@article {pmid40024437,
year = {2025},
author = {Merchant, SS},
title = {The Elements of Life, Photosynthesis and Genomics.},
journal = {Journal of molecular biology},
volume = {437},
number = {11},
pages = {169054},
doi = {10.1016/j.jmb.2025.169054},
pmid = {40024437},
issn = {1089-8638},
mesh = {*Photosynthesis/genetics ; *Genomics/history ; Chlamydomonas/genetics/metabolism ; History, 20th Century ; History, 21st Century ; },
abstract = {I am a Professor of Biochemistry, Biophysics and Structural Biology and Plant and Microbial Biology at the University of California in Berkeley. I was born and raised in India, emigrated to the United States to attend university, earning a B.S. in Molecular Biology and a Ph.D. in Biochemistry at the University of Wisconsin in Madison. Following post-doctoral studies with Lawrence Bogorad at Harvard University where I became interested in genetic control of trace element quotas, I joined the department of Chemistry and Biochemistry at UCLA. One of the first to appreciate essential trace metals as potential regulators of gene expression, I articulated the details of the nutritional Cu regulon in Chlamydomonas. In parallel, I used genetic approaches to discover the genes governing missing steps in tetrapyrrole metabolism, including the attachment of heme to apocytochromes in the thylakoid lumen and the factors catalyzing the formation of ring V in chlorophyll. After biochemistry and classical genetics, I embraced genomics, taking a leadership role on the Joint Genome Institute's efforts on the Chlamydomonas genome and more recently, contributing to high quality assemblies of several genomes in the green algal radiation, and large transcriptomic and proteomic datasets - focusing on the diel metabolic cycle in synchronized cultures and acclimation to key environmental and nutritional stressors - that are well-used and appreciated by the community. A new venture in Berkeley is the promotion of Auxenochlorella protothecoides as the true "green yeast" and as a platform for engineering algae to produce useful bioproducts.},
}

*Photosynthesis/genetics
*Genomics/history
Chlamydomonas/genetics/metabolism
History, 20th Century
History, 21st Century

@article {pmid40015370,
year = {2025},
author = {Nussinov, R},
title = {Pioneer in Molecular Biology: Conformational Ensembles in Molecular Recognition, Allostery, and Cell Function.},
journal = {Journal of molecular biology},
volume = {437},
number = {11},
pages = {169044},
doi = {10.1016/j.jmb.2025.169044},
pmid = {40015370},
issn = {1089-8638},
support = {Z01 BC010440/ImNIH/Intramural NIH HHS/United States ; Z01 BC010441/ImNIH/Intramural NIH HHS/United States ; Z01 BC010442/ImNIH/Intramural NIH HHS/United States ; },
mesh = {*Molecular Biology/history/methods ; Allosteric Regulation ; *Proteins/chemistry/metabolism ; Algorithms ; Humans ; History, 20th Century ; Protein Conformation ; Nucleic Acid Conformation ; RNA/chemistry ; Protein Binding ; Models, Molecular ; },
abstract = {In 1978, for my PhD, I developed the efficient O(n[3]) dynamic programming algorithm for the-then open problem of RNA secondary structure prediction. This algorithm, now dubbed the "Nussinov algorithm", "Nussinov plots", and "Nussinov diagrams", is still taught across Europe and the U.S. As sequences started coming out in the 1980s, I started seeking genome-encoded functional signals, later becoming a bioinformatics trend. In the early 1990s I transited to proteins, co-developing a powerful computer vision-based docking algorithm. In the late 1990s, I proposed the foundational role of conformational ensembles in molecular recognition and allostery. At the time, conformational ensembles and free energy landscapes were viewed as physical properties of proteins but were not associated with function. The classical view of molecular recognition and binding was based on only two conformations captured by crystallography: open and closed. I proposed that all conformational states preexist. Proteins always have not one folded form-nor two-but many folded forms. Thus, rather than inducing fit, binding can work by shifting the ensembles between states, and this shifting, or redistributing the ensembles to maintain equilibrium, is the origin of the allosteric effect and protein, thus cell, function. This transformative paradigm impacted community views in allosteric drug design, catalysis, and regulation. Dynamic conformational ensemble shifts are now acknowledged as the origin of recognition, allostery, and signaling, underscoring that conformational ensembles-not proteins-are the workhorses of the cell, pioneering the fundamental idea that dynamic ensembles are the driving force behind cellular processes. Nussinov was recognized as pioneer in molecular biology by JMB.},
}

*Molecular Biology/history/methods
Allosteric Regulation
*Proteins/chemistry/metabolism
Algorithms
Humans
History, 20th Century
Protein Conformation
Nucleic Acid Conformation
RNA/chemistry
Protein Binding
Models, Molecular

@article {pmid39460448,
year = {2025},
author = {Parikh, R and Diab, J and Guevara, R and Russell, H and Campbell, P},
title = {'Great Masquerader': a history of diagnosing pheochromocytoma.},
journal = {ANZ journal of surgery},
volume = {95},
number = {1-2},
pages = {77-83},
doi = {10.1111/ans.19257},
pmid = {39460448},
issn = {1445-2197},
mesh = {*Pheochromocytoma/diagnosis ; Humans ; *Adrenal Gland Neoplasms/diagnosis ; Diagnosis, Differential ; History, 20th Century ; History, 21st Century ; Catecholamines/urine/metabolism/blood ; Headache/etiology ; History, 19th Century ; Tachycardia/etiology/diagnosis ; },
abstract = {INTRODUCTION: Pheochromocytoma is a unique tumour with a variety of clinical presentations. Coined as 'the great masquerader', it can present with the classical triad of headache, sweating and tachycardia and sometimes in an acute hypertensive crisis. This paper describes the evolutionary history of the diagnosis of this condition.

METHODS: A literature review was conducted using Medline Database from 1900 to 2023 outlining the methods of diagnosis for pheochromocytoma.

RESULTS: There have been diagnostic dilemmas and localization challenges of pheochromocytoma over the last century. From the first description of pheochromocytoma in 1886 to the first successful resection in 1926, there was poor recognition of its atypical symptoms and lack of reliable diagnostic tests. Over the next few decades, there were significant advances in screening and biochemical tests. Further understanding of catecholamine release and metabolic pathways led to the development of tests to identify end products of catecholamine metabolism in plasma and urine. Computed imaging however heralded significant improvement in surgical planning and management. The evolution of histopathological diagnosis with the use of immunostains and genetic testing has further contributed to the identification of malignant pheochromocytomas and an understanding of their behaviours.

CONCLUSION: Significant advances in the biochemical and imaging have shaped our understanding of pathophysiology and management. These diagnostic advances have enabled early and accurate detection and localization of pheochromocytomas to enable prompt surgical management.},
}

*Pheochromocytoma/diagnosis
Humans
*Adrenal Gland Neoplasms/diagnosis
Diagnosis, Differential
History, 20th Century
History, 21st Century
Catecholamines/urine/metabolism/blood
Headache/etiology
History, 19th Century
Tachycardia/etiology/diagnosis

@article {pmid39983693,
year = {2025},
author = {Price, C and Smith, S and Stewart, J and Hanson, J},
title = {Acute Q Fever Patients Requiring Intensive Care Unit Support in Tropical Australia, 2015-2023.},
journal = {Emerging infectious diseases},
volume = {31},
number = {2},
pages = {332-335},
doi = {10.3201/eid3102.240422},
pmid = {39983693},
issn = {1080-6059},
mesh = {Humans ; *Q Fever/diagnosis/epidemiology ; *Intensive Care Units ; Male ; Middle Aged ; Adult ; Female ; Queensland/epidemiology ; Australia/epidemiology ; Aged ; Anti-Bacterial Agents/therapeutic use ; Coxiella burnetii/genetics ; Acute Disease ; History, 21st Century ; },
abstract = {Acute Q fever is classically described as a mild illness. We report 9 patients with acute Q fever in Queensland, Australia, who required intensive care unit support to survive. Clinicians should consider an acute Q fever diagnosis and its empirical treatment in critically ill persons in the appropriate clinical context.},
}

Humans
*Q Fever/diagnosis/epidemiology
*Intensive Care Units
Male
Middle Aged
Adult
Female
Queensland/epidemiology
Australia/epidemiology
Aged
Anti-Bacterial Agents/therapeutic use
Coxiella burnetii/genetics
Acute Disease
History, 21st Century

@article {pmid39632989,
year = {2025},
author = {Ghadiri, N},
title = {The history of uveitis: from antiquity to the present day.},
journal = {Eye (London, England)},
volume = {39},
number = {3},
pages = {488-491},
pmid = {39632989},
issn = {1476-5454},
mesh = {Humans ; *Uveitis/history ; History, Ancient ; History, Medieval ; History, 20th Century ; History, 16th Century ; History, 18th Century ; History, 19th Century ; History, 17th Century ; History, 15th Century ; *Ophthalmology/history ; History, 21st Century ; },
abstract = {This comprehensive review traces the historical understanding and treatment of uveitis from ancient civilisations to modern medicine, a history which reflects the evolution of medical understanding and practice in general. Early descriptions of ocular inflammation appear in Egyptian medical papyri from 1700 BCE, with subsequent contributions from Greek and Roman physicians, including Hippocrates and Galen, who provided foundational observations of ocular inflammatory conditions. Medieval scholars in the Middle East, particularly Avicenna, preserved and advanced classical knowledge while recognising the systemic nature of ocular inflammation. The Renaissance and Enlightenment periods brought anatomical precision and the emergence of ophthalmology as a distinct specialty, notably through innovations such as Helmholtz's ophthalmoscope in 1851. The twentieth century marked a paradigm shift with the evolution of immunological understanding, leading to the recognition of autoimmune mechanisms and genetic predispositions in uveitis. The introduction of corticosteroids mid-century revolutionised treatment, followed by the development of steroid-sparing immunomodulatory agents and, more recently, targeted biological therapies. Contemporary advances in imaging technology and the establishment of international collaborative groups have standardised classification and treatment approaches. This historical perspective demonstrates the progression from empirical observations to precision medicine in uveitis, highlighting the importance of understanding this evolution for advancing future therapeutic strategies.},
}

Humans
*Uveitis/history
History, Ancient
History, Medieval
History, 20th Century
History, 16th Century
History, 18th Century
History, 19th Century
History, 17th Century
History, 15th Century
*Ophthalmology/history
History, 21st Century

@article {pmid39883774,
year = {2025},
author = {Daly, KG and Mullin, VE and Hare, AJ and Halpin, Á and Mattiangeli, V and Teasdale, MD and Rossi, C and Geiger, S and Krebs, S and Medugorac, I and Sandoval-Castellanos, E and Özbaşaran, M and Duru, G and Gülcür, S and Pöllath, N and Collins, M and Frantz, L and Vila, E and Zidarov, P and Stoddart, S and Boldgiv, B and Orlando, L and Pearson, MP and Mullville, J and Askeyev, IV and Askeyev, AO and Askeyev, OV and Shaymuratova, DN and Van den Hurk, Y and Zeeb-Lanz, A and Arbogast, RM and Hemmer, H and Davoudi, H and Amiri, S and Doost, SB and Decruyenaere, D and Fathi, H and Khazaeli, R and Hassanzadeh, Y and Sardari, A and Lhuillier, J and Abdolahi, M and Summers, GD and Marro, C and Bahshaliyev, V and Berthon, R and Çakirlar, C and Benecke, N and Scheu, A and Burger, J and Sauer, E and Horwitz, LK and Arbuckle, B and Buitenhuis, H and Gourichon, L and Bulatović, J and O'Connor, T and Orton, D and Jalabadze, M and Rhodes, S and Chazan, M and Özkaya, V and Zeder, M and Atıcı, L and Mashkour, M and Peters, J and Bradley, DG},
title = {Ancient genomics and the origin, dispersal, and development of domestic sheep.},
journal = {Science (New York, N.Y.)},
volume = {387},
number = {6733},
pages = {492-497},
doi = {10.1126/science.adn2094},
pmid = {39883774},
issn = {1095-9203},
mesh = {Animals ; *Genomics ; *Sheep, Domestic/genetics ; *Genome ; *DNA, Ancient/analysis ; Humans ; Sheep/genetics ; Europe ; History, Ancient ; },
abstract = {The origins and prehistory of domestic sheep (Ovis aries) are incompletely understood; to address this, we generated data from 118 ancient genomes spanning 12,000 years sampled from across Eurasia. Genomes from Central Türkiye ~8000 BCE are genetically proximal to the domestic origins of sheep but do not fully explain the ancestry of later populations, suggesting a mosaic of wild ancestries. Genomic signatures indicate selection by ancient herders for pigmentation patterns, hornedness, and growth rate. Although the first European sheep flocks derive from Türkiye, in a notable parallel with ancient human genome discoveries, we detected a major influx of Western steppe-related ancestry in the Bronze Age.},
}

Animals
*Genomics
*Sheep, Domestic/genetics
*Genome
*DNA, Ancient/analysis
Humans
Sheep/genetics
Europe
History, Ancient

@article {pmid39743601,
year = {2025},
author = {Speidel, L and Silva, M and Booth, T and Raffield, B and Anastasiadou, K and Barrington, C and Götherström, A and Heather, P and Skoglund, P},
title = {High-resolution genomic history of early medieval Europe.},
journal = {Nature},
volume = {637},
number = {8044},
pages = {118-126},
pmid = {39743601},
issn = {1476-4687},
mesh = {Humans ; *Genome, Human/genetics ; Europe/ethnology ; History, Medieval ; *Genomics ; Scandinavian and Nordic Countries ; Human Migration/history ; Haplotypes/genetics ; Male ; Genetics, Population ; DNA, Ancient/analysis ; Female ; },
abstract = {Many known and unknown historical events have remained below detection thresholds of genetic studies because subtle ancestry changes are challenging to reconstruct. Methods based on shared haplotypes[1,2] and rare variants[3,4] improve power but are not explicitly temporal and have not been possible to adopt in unbiased ancestry models. Here we develop Twigstats, an approach of time-stratified ancestry analysis that can improve statistical power by an order of magnitude by focusing on coalescences in recent times, while remaining unbiased by population-specific drift. We apply this framework to 1,556 available ancient whole genomes from Europe in the historical period. We are able to model individual-level ancestry using preceding genomes to provide high resolution. During the first half of the first millennium CE, we observe at least two different streams of Scandinavian-related ancestry expanding across western, central and eastern Europe. By contrast, during the second half of the first millennium CE, ancestry patterns suggest the regional disappearance or substantial admixture of these ancestries. In Scandinavia, we document a major ancestry influx by approximately 800 CE, when a large proportion of Viking Age individuals carried ancestry from groups related to central Europe not seen in individuals from the early Iron Age. Our findings suggest that time-stratified ancestry analysis can provide a higher-resolution lens for genetic history.},
}

Humans
*Genome, Human/genetics
Europe/ethnology
History, Medieval
*Genomics
Scandinavian and Nordic Countries
Human Migration/history
Haplotypes/genetics
Male
Genetics, Population
DNA, Ancient/analysis
Female

@article {pmid39349134,
year = {2024},
author = {Forsdyke, DR},
title = {William Bateson, black slavery, eugenics and speciation: The relative roles of politics and science.},
journal = {Bio Systems},
volume = {246},
number = {},
pages = {105348},
doi = {10.1016/j.biosystems.2024.105348},
pmid = {39349134},
issn = {1872-8324},
mesh = {Humans ; *Eugenics/history ; *Politics ; *Enslavement/history ; History, 20th Century ; Genetic Speciation ; History, 19th Century ; Science/history ; },
abstract = {The peace of the world is challenged by societal confrontations that can often be labeled "racial" or "ethnic." Emblematic of this is discrimination based on skin colour. William Bateson's background suggests sympathy with the black emancipation movement. Yet the movement's success is attributed more to battles between political figures than between scientists with contending views on the biology of racial differences. However, in the long term, Bateson's contributions to slavery and eugenic issues may be seen as no less important than those of politicians. Mendel's discovery of what we now know as "genes" languished until seized upon by Bateson in 1900. For six exhausting years he struggled to win scientific acceptance of these biological character-determining units. Later, he pressed the Mendelian message home to the general public, opposing simplistic applications of Mendelian principles to human affairs, and arguing that minor genic differences that distinguished "races" - e.g. skin colour - do not initiate new species. Bateson praised the "physiological selection" speciation hypothesis of Darwin's young research associate, George Romanes. This enthusiasm was rekindled by Robert Lock and formulated in modern terms with C. R. Crowther. Thus, the spark that initiates a divergence into two species can be non-genic. This normal form of hybrid sterility, based on genome-wide DNA sequence differences, operates on, but has not succeeded in dividing, the human species. It should not be labeled "idiopathic," and be clearly distinguished both from pathological sterility and undiagnosed sterilities that may prove to be pathological. We are one reproductively isolated population, the human species.},
}

Humans
*Eugenics/history
*Politics
*Enslavement/history
History, 20th Century
Genetic Speciation
History, 19th Century
Science/history

@article {pmid38177408,
year = {2024},
author = {Sharko, FS and Boulygina, ES and Tsygankova, SV and Slobodova, NV and Rastorguev, SM and Krasivskaya, AA and Belinsky, AB and Härke, H and Kadieva, AA and Demidenko, SV and Malashev, VY and Shvedchikova, TY and Dobrovolskaya, MV and Reshetova, IK and Korobov, DS and Nedoluzhko, AV},
title = {Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus.},
journal = {European journal of human genetics : EJHG},
volume = {32},
number = {11},
pages = {1483-1491},
pmid = {38177408},
issn = {1476-5438},
mesh = {Humans ; *DNA, Ancient/analysis ; Female ; Male ; *Genome, Human ; Archaeology ; History, Ancient ; White People/genetics ; Polymorphism, Single Nucleotide ; Russia ; },
abstract = {The North Caucasus played a key role during the ancient colonization of Eurasia and the formation of its cultural and genetic ancestry. Previous archeogenetic studies described a relative genetic and cultural continuity of ancient Caucasus societies, since the Eneolithic period. The Koban culture, which formed in the Late Bronze Age on the North Caucasian highlands, is considered as a cultural "bridge" between the ancient and modern autochthonous peoples of the Caucasus. Here, we discuss the place of this archeological culture and its representatives in the genetic orbit of Caucasian cultures using genome-wide SNP data from five individuals of the Koban culture and one individual of the early Alanic culture as well as previously published genomic data of ancient and modern North Caucasus individuals. Ancient DNA analysis shows that an ancient individual from Klin-Yar III, who was previously described as male, was in fact a female. Additional studies on well-preserved ancient human specimens are necessary to determine the level of local mobility and kinship between individuals in ancient societies of North Caucasus. Further studies with a larger sample size will allow us gain a deeper understanding of this topic.},
}

Humans
*DNA, Ancient/analysis
Female
Male
*Genome, Human
Archaeology
History, Ancient
White People/genetics
Polymorphism, Single Nucleotide
Russia

@article {pmid39208190,
year = {2024},
author = {Viger, RS and Bouchard, MF and Tremblay, JJ},
title = {A STAR for the ages: a 30-year historical perspective of the role of transcription factors in the regulation of steroidogenic acute regulatory gene expression.},
journal = {The Journal of endocrinology},
volume = {263},
number = {2},
pages = {},
doi = {10.1530/JOE-24-0087},
pmid = {39208190},
issn = {1479-6805},
mesh = {*Phosphoproteins/genetics/metabolism ; Humans ; Animals ; *Transcription Factors/metabolism/genetics ; *Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; },
abstract = {The steroidogenic acute regulatory (STAR) protein is an essential cholesterol transporter that shuttles cholesterol from the outer to the inner mitochondrial membrane in the major steroidogenic endocrine organs. It is a key player in the acute regulation of steroid hormone biosynthesis in response to tropic hormone stimulation. Its discovery 30 years ago sparked immediate interest in understanding how STAR action is controlled. Since increased STAR gene expression is a classic feature of the acute regulation of steroidogenesis, a special emphasis was placed on defining the transcriptional regulatory mechanisms that underlie its rapid induction in response to tropic hormone stimulation. These mechanisms include the effects of enhancers, the regulation of chromatin accessibility, the impact of epigenetic factors, and the role of transcription factors. Over the past three decades, understanding the transcription factors that regulate STAR gene expression has been the subject of more than 170 independent scientific publications, making it one of, and if not the best, studied genes in the steroidogenic pathway. This intense research effort has led to the identification of dozens of transcription factors and their related binding sites in STAR 5' flanking (promoter) sequences across multiple species. STAR gene transcription appears to be complex in that a large number of transcription factors have been proposed to interact with either isolated or overlapping regulatory sequences that are tightly clustered over a relatively short promoter region upstream of the STAR transcription start site. Many of these transcription factors appear to work in unique combinatorial codes and are impacted by diverse hormonal and intracellular signaling pathways. This review provides a retrospective overview of the transcription factors proposed to regulate both basal and acute (hormonal) STAR gene expression, and how insights in this area have evolved over the past 30 years.},
}

*Phosphoproteins/genetics/metabolism
Humans
Animals
*Transcription Factors/metabolism/genetics
*Gene Expression Regulation
History, 20th Century
History, 21st Century

@article {pmid39268685,
year = {2024},
author = {Scheib, CL and Hui, R and Rose, AK and D'Atanasio, E and Inskip, SA and Dittmar, J and Cessford, C and Griffith, SJ and Solnik, A and Wiseman, R and Neil, B and Biers, T and Harknett, SJ and Sasso, S and Biagini, SA and Runfeldt, G and Duhig, C and Evans, C and Metspalu, M and Millett, MJ and O'Connell, TC and Robb, JE and Kivisild, T},
title = {Low Genetic Impact of the Roman Occupation of Britain in Rural Communities.},
journal = {Molecular biology and evolution},
volume = {41},
number = {9},
pages = {},
pmid = {39268685},
issn = {1537-1719},
support = {2000368/Z/15/Z/WT_/Wellcome Trust/United Kingdom ; //St John's College, Cambridge/ ; 2014-2020.4.01.15-0012//European Regional Development Fund/ ; PRG243//Estonian Research Council/ ; 2014-2020.4.01.16-0030//European Union through the European Regional Development Fund/ ; /WT_/Wellcome Trust/United Kingdom ; },
mesh = {Humans ; United Kingdom ; *Human Migration ; *Rural Population ; History, Ancient ; DNA, Ancient/analysis ; Genetics, Population ; },
abstract = {The Roman period saw the empire expand across Europe and the Mediterranean, including much of what is today Great Britain. While there is written evidence of high mobility into and out of Britain for administrators, traders, and the military, the impact of imperialism on local, rural population structure, kinship, and mobility is invisible in the textual record. The extent of genetic change that occurred in Britain during the Roman military occupation remains underexplored. Here, using genome-wide data from 52 ancient individuals from eight sites in Cambridgeshire covering the period of Roman occupation, we show low levels of genetic ancestry differentiation between Romano-British sites and indications of larger populations than in the Bronze Age and Neolithic. We find no evidence of long-distance migration from elsewhere in the Empire, though we do find one case of possible temporary mobility within a family unit during the Late Romano-British period. We also show that the present-day patterns of genetic ancestry composition in Britain emerged after the Roman period.},
}

Humans
United Kingdom
*Human Migration
*Rural Population
History, Ancient
DNA, Ancient/analysis
Genetics, Population

@article {pmid39264389,
year = {2024},
author = {Wu, Q},
title = {Controlling systems and controlling legacies: Barbara McClintock's 1961 conversation with two bacterial geneticists.},
journal = {History and philosophy of the life sciences},
volume = {46},
number = {3},
pages = {31},
pmid = {39264389},
issn = {1742-6316},
mesh = {History, 20th Century ; *Zea mays/genetics ; United States ; Nobel Prize ; Genetics/history ; },
abstract = {Barbara McClintock (1902-1992), the renowned American maize geneticist, received the 1983 Nobel Prize "for her discovery of mobile genetic elements," becoming the seventh woman scientist to receive a Nobel Prize. However, Nathaniel Comfort points out that McClintock viewed her primary contribution as the elucidation of control systems, rather than the discovery of mobile elements. McClintock's interest in control systems dates back to the 1940s, and this paper investigates her 1961 conversation with François Jacob and Jacques Monod, where she sought to shape the interpretation of her work by drawing parallels between maize control systems and a bacterial system they had recently discovered. Despite McClintock's efforts, Jacob and Monod rejected her parallels and suggested that her contribution was limited to mobile elements. Through an examination of their published papers, I argue that Jacob and Monod's rejection stemmed from their failure to fully comprehend maize control systems. Disciplinary discrepancy helps explain Jacob and Monod's lack of comprehension: they were molecular geneticists working on bacteria, while McClintock was a classical geneticist studying maize. I further argue that gender played a role, as McClintock experienced the Matilda effect-the under-recognition of her contribution, reinforced by the reactions of two male geneticists, and ironically, by the award of the Nobel Prize. Control systems, stemming from McClintock's reverence for organisms, embodied what Evelyn Fox Keller defines as "gender-neutral science." This divergent view of science provides insight into why Jacob and Monod failed to grasp McClintock's work in 1961.},
}

History, 20th Century
*Zea mays/genetics
United States
Nobel Prize
Genetics/history

@article {pmid39196943,
year = {2024},
author = {Rodríguez-Varela, R and Yaka, R and Pochon, Z and Sanchez-Pinto, I and Solaun, JL and Naidoo, T and Guinet, B and Pérez-Ramallo, P and Lagerholm, VK and de Anca Prado, V and Valdiosera, C and Krzewińska, M and Herrasti, L and Azkarate, A and Götherström, A},
title = {Five centuries of consanguinity, isolation, health, and conflict in Las Gobas: A Northern Medieval Iberian necropolis.},
journal = {Science advances},
volume = {10},
number = {35},
pages = {eadp8625},
pmid = {39196943},
issn = {2375-2548},
mesh = {Humans ; Spain ; History, Medieval ; *Consanguinity ; Phylogeny ; Archaeology ; Female ; Male ; Animals ; },
abstract = {Between the 8th and 11th centuries CE, the Iberian Peninsula underwent profound upheaval due to the Umayyad invasion against the Visigoths, resulting in population shifts and lasting demographic impacts. Our understanding of this period is hindered by limited written sources and few archaeogenetic studies. We analyzed 33 individuals from Las Gobas, a necropolis in northern Spain, spanning the 7th to 11th centuries. By combining archaeological and osteological data with kinship, metagenomics, and ancestry analyses, we investigate conflicts, health, and demography of these individuals. We reveal intricate family relationships and genetic continuity within a consanguineous population while also identifying several zoonoses indicative of close interactions with animals. Notably, one individual was infected with a variola virus phylogenetically clustering with the northern European variola complex between ~885 and 1000 CE. Last, we did not detect a significant increase of North African or Middle East ancestries over time since the Islamic conquest of Iberia, possibly because this community remained relatively isolated.},
}

Humans
Spain
History, Medieval
*Consanguinity
Phylogeny
Archaeology
Female
Male
Animals

@article {pmid38995059,
year = {2024},
author = {Marrache, M and Sponseller, PD},
title = {Victor McKusick: Father of Medical Genetics and his Impact on Orthopaedics.},
journal = {Journal of surgical orthopaedic advances},
volume = {33},
number = {2},
pages = {68-71},
pmid = {38995059},
issn = {1548-825X},
mesh = {History, 20th Century ; *Orthopedics/history ; *Genetics, Medical/history ; Humans ; History, 21st Century ; },
abstract = {Victor McKusick, an iconic figure in medicine and considered the founding father of medical genetics, lived an exemplary life bound to inspire others. As a geneticist, McKusick was heavily involved in the Human Genome Project and the development of the widely used Online Mendelian Inheritance in Man. As a researcher and prolific writer, he published more than 700 research articles, reviews, and books. McKusick educated and inspired thousands of students, doctors, and scientists while performing landmark studies in hereditary disorders and skeletal dysplasias. This brief history describes the life of Dr. Victor McKusick and his tremendous impact on orthopaedic surgery. (Journal of Surgical Orthopaedic Advances 33(2):068-071, 2024).},
}

History, 20th Century
*Orthopedics/history
*Genetics, Medical/history
Humans
History, 21st Century

@article {pmid38867050,
year = {2024},
author = {Michel, M and Skourtanioti, E and Pierini, F and Guevara, EK and Mötsch, A and Kocher, A and Barquera, R and Bianco, RA and Carlhoff, S and Coppola Bove, L and Freilich, S and Giffin, K and Hermes, T and Hiß, A and Knolle, F and Nelson, EA and Neumann, GU and Papac, L and Penske, S and Rohrlach, AB and Salem, N and Semerau, L and Villalba-Mouco, V and Abadie, I and Aldenderfer, M and Beckett, JF and Brown, M and Campus, FGR and Chenghwa, T and Cruz Berrocal, M and Damašek, L and Duffett Carlson, KS and Durand, R and Ernée, M and Fântăneanu, C and Frenzel, H and García Atiénzar, G and Guillén, S and Hsieh, E and Karwowski, M and Kelvin, D and Kelvin, N and Khokhlov, A and Kinaston, RL and Korolev, A and Krettek, KL and Küßner, M and Lai, L and Look, C and Majander, K and Mandl, K and Mazzarello, V and McCormick, M and de Miguel Ibáñez, P and Murphy, R and Németh, RE and Nordqvist, K and Novotny, F and Obenaus, M and Olmo-Enciso, L and Onkamo, P and Orschiedt, J and Patrushev, V and Peltola, S and Romero, A and Rubino, S and Sajantila, A and Salazar-García, DC and Serrano, E and Shaydullaev, S and Sias, E and Šlaus, M and Stančo, L and Swanston, T and Teschler-Nicola, M and Valentin, F and Van de Vijver, K and Varney, TL and Vigil-Escalera Guirado, A and Waters, CK and Weiss-Krejci, E and Winter, E and Lamnidis, TC and Prüfer, K and Nägele, K and Spyrou, M and Schiffels, S and Stockhammer, PW and Haak, W and Posth, C and Warinner, C and Bos, KI and Herbig, A and Krause, J},
title = {Ancient Plasmodium genomes shed light on the history of human malaria.},
journal = {Nature},
volume = {631},
number = {8019},
pages = {125-133},
pmid = {38867050},
issn = {1476-4687},
mesh = {Female ; Humans ; Male ; Altitude ; Americas/epidemiology ; Asia/epidemiology ; Biological Evolution ; Disease Resistance/genetics ; *DNA, Ancient/analysis ; Europe/epidemiology ; *Genome, Mitochondrial/genetics ; *Genome, Protozoan/genetics ; History, Ancient ; *Malaria/parasitology/history/transmission/epidemiology ; Malaria, Falciparum/epidemiology/history/parasitology/transmission ; Malaria, Vivax/epidemiology/history/parasitology/transmission ; *Plasmodium/genetics/classification ; Plasmodium falciparum/genetics/isolation & purification ; Plasmodium malariae/genetics/isolation & purification ; Plasmodium vivax/genetics/isolation & purification ; },
abstract = {Malaria-causing protozoa of the genus Plasmodium have exerted one of the strongest selective pressures on the human genome, and resistance alleles provide biomolecular footprints that outline the historical reach of these species[1]. Nevertheless, debate persists over when and how malaria parasites emerged as human pathogens and spread around the globe[1,2]. To address these questions, we generated high-coverage ancient mitochondrial and nuclear genome-wide data from P. falciparum, P. vivax and P. malariae from 16 countries spanning around 5,500 years of human history. We identified P. vivax and P. falciparum across geographically disparate regions of Eurasia from as early as the fourth and first millennia BCE, respectively; for P. vivax, this evidence pre-dates textual references by several millennia[3]. Genomic analysis supports distinct disease histories for P. falciparum and P. vivax in the Americas: similarities between now-eliminated European and peri-contact South American strains indicate that European colonizers were the source of American P. vivax, whereas the trans-Atlantic slave trade probably introduced P. falciparum into the Americas. Our data underscore the role of cross-cultural contacts in the dissemination of malaria, laying the biomolecular foundation for future palaeo-epidemiological research into the impact of Plasmodium parasites on human history. Finally, our unexpected discovery of P. falciparum in the high-altitude Himalayas provides a rare case study in which individual mobility can be inferred from infection status, adding to our knowledge of cross-cultural connectivity in the region nearly three millennia ago.},
}

Female
Humans
Male
Altitude
Americas/epidemiology
Asia/epidemiology
Biological Evolution
Disease Resistance/genetics
*DNA, Ancient/analysis
Europe/epidemiology
*Genome, Mitochondrial/genetics
*Genome, Protozoan/genetics
History, Ancient
*Malaria/parasitology/history/transmission/epidemiology
Malaria, Falciparum/epidemiology/history/parasitology/transmission
Malaria, Vivax/epidemiology/history/parasitology/transmission
*Plasmodium/genetics/classification
Plasmodium falciparum/genetics/isolation & purification
Plasmodium malariae/genetics/isolation & purification
Plasmodium vivax/genetics/isolation & purification

@article {pmid38867041,
year = {2024},
author = {Barquera, R and Del Castillo-Chávez, O and Nägele, K and Pérez-Ramallo, P and Hernández-Zaragoza, DI and Szolek, A and Rohrlach, AB and Librado, P and Childebayeva, A and Bianco, RA and Penman, BS and Acuña-Alonzo, V and Lucas, M and Lara-Riegos, JC and Moo-Mezeta, ME and Torres-Romero, JC and Roberts, P and Kohlbacher, O and Warinner, C and Krause, J},
title = {Ancient genomes reveal insights into ritual life at Chichén Itzá.},
journal = {Nature},
volume = {630},
number = {8018},
pages = {912-919},
pmid = {38867041},
issn = {1476-4687},
mesh = {Humans ; Mexico ; *Genome, Human/genetics ; Male ; *Ceremonial Behavior ; *DNA, Ancient/analysis ; History, Ancient ; Female ; Burial/history ; Archaeology ; Twins/genetics ; History, Medieval ; },
abstract = {The ancient city of Chichén Itzá in Yucatán, Mexico, was one of the largest and most influential Maya settlements during the Late and Terminal Classic periods (AD 600-1000) and it remains one of the most intensively studied archaeological sites in Mesoamerica[1-4]. However, many questions about the social and cultural use of its ceremonial spaces, as well as its population's genetic ties to other Mesoamerican groups, remain unanswered[2]. Here we present genome-wide data obtained from 64 subadult individuals dating to around AD 500-900 that were found in a subterranean mass burial near the Sacred Cenote (sinkhole) in the ceremonial centre of Chichén Itzá. Genetic analyses showed that all analysed individuals were male and several individuals were closely related, including two pairs of monozygotic twins. Twins feature prominently in Mayan and broader Mesoamerican mythology, where they embody qualities of duality among deities and heroes[5], but until now they had not been identified in ancient Mayan mortuary contexts. Genetic comparison to present-day people in the region shows genetic continuity with the ancient inhabitants of Chichén Itzá, except at certain genetic loci related to human immunity, including the human leukocyte antigen complex, suggesting signals of adaptation due to infectious diseases introduced to the region during the colonial period.},
}

Humans
Mexico
*Genome, Human/genetics
Male
*Ceremonial Behavior
*DNA, Ancient/analysis
History, Ancient
Female
Burial/history
Archaeology
Twins/genetics
History, Medieval

@article {pmid38843826,
year = {2024},
author = {Librado, P and Tressières, G and Chauvey, L and Fages, A and Khan, N and Schiavinato, S and Calvière-Tonasso, L and Kusliy, MA and Gaunitz, C and Liu, X and Wagner, S and Der Sarkissian, C and Seguin-Orlando, A and Perdereau, A and Aury, JM and Southon, J and Shapiro, B and Bouchez, O and Donnadieu, C and Collin, YRH and Gregersen, KM and Jessen, MD and Christensen, K and Claudi-Hansen, L and Pruvost, M and Pucher, E and Vulic, H and Novak, M and Rimpf, A and Turk, P and Reiter, S and Brem, G and Schwall, C and Barrey, É and Robert, C and Degueurce, C and Horwitz, LK and Klassen, L and Rasmussen, U and Kveiborg, J and Johannsen, NN and Makowiecki, D and Makarowicz, P and Szeliga, M and Ilchyshyn, V and Rud, V and Romaniszyn, J and Mullin, VE and Verdugo, M and Bradley, DG and Cardoso, JL and Valente, MJ and Telles Antunes, M and Ameen, C and Thomas, R and Ludwig, A and Marzullo, M and Prato, O and Bagnasco Gianni, G and Tecchiati, U and Granado, J and Schlumbaum, A and Deschler-Erb, S and Mráz, MS and Boulbes, N and Gardeisen, A and Mayer, C and Döhle, HJ and Vicze, M and Kosintsev, PA and Kyselý, R and Peške, L and O'Connor, T and Ananyevskaya, E and Shevnina, I and Logvin, A and Kovalev, AA and Iderkhangai, TO and Sablin, MV and Dashkovskiy, PK and Graphodatsky, AS and Merts, I and Merts, V and Kasparov, AK and Pitulko, VV and Onar, V and Öztan, A and Arbuckle, BS and McColl, H and Renaud, G and Khaskhanov, R and Demidenko, S and Kadieva, A and Atabiev, B and Sundqvist, M and Lindgren, G and López-Cachero, FJ and Albizuri, S and Trbojević Vukičević, T and Rapan Papeša, A and Burić, M and Rajić Šikanjić, P and Weinstock, J and Asensio Vilaró, D and Codina, F and García Dalmau, C and Morer de Llorens, J and Pou, J and de Prado, G and Sanmartí, J and Kallala, N and Torres, JR and Maraoui-Telmini, B and Belarte Franco, MC and Valenzuela-Lamas, S and Zazzo, A and Lepetz, S and Duchesne, S and Alexeev, A and Bayarsaikhan, J and Houle, JL and Bayarkhuu, N and Turbat, T and Crubézy, É and Shingiray, I and Mashkour, M and Berezina, NY and Korobov, DS and Belinskiy, A and Kalmykov, A and Demoule, JP and Reinhold, S and Hansen, S and Wallner, B and Roslyakova, N and Kuznetsov, PF and Tishkin, AA and Wincker, P and Kanne, K and Outram, A and Orlando, L},
title = {Widespread horse-based mobility arose around 2200 BCE in Eurasia.},
journal = {Nature},
volume = {631},
number = {8022},
pages = {819-825},
pmid = {38843826},
issn = {1476-4687},
mesh = {Animals ; Female ; Male ; *Animal Husbandry/history ; Asia ; *Domestication ; Europe ; Genome/genetics ; History, Ancient ; *Horses/classification/genetics ; Reproduction ; *Transportation/history/methods ; Phylogeny ; },
abstract = {Horses revolutionized human history with fast mobility[1]. However, the timeline between their domestication and their widespread integration as a means of transport remains contentious[2-4]. Here we assemble a collection of 475 ancient horse genomes to assess the period when these animals were first reshaped by human agency in Eurasia. We find that reproductive control of the modern domestic lineage emerged around 2200 BCE, through close-kin mating and shortened generation times. Reproductive control emerged following a severe domestication bottleneck starting no earlier than approximately 2700 BCE, and coincided with a sudden expansion across Eurasia that ultimately resulted in the replacement of nearly every local horse lineage. This expansion marked the rise of widespread horse-based mobility in human history, which refutes the commonly held narrative of large horse herds accompanying the massive migration of steppe peoples across Europe around 3000 BCE and earlier[3,5]. Finally, we detect significantly shortened generation times at Botai around 3500 BCE, a settlement from central Asia associated with corrals and a subsistence economy centred on horses[6,7]. This supports local horse husbandry before the rise of modern domestic bloodlines.},
}

Animals
Female
Male
*Animal Husbandry/history
Asia
*Domestication
Europe
Genome/genetics
History, Ancient
*Horses/classification/genetics
Reproduction
*Transportation/history/methods
Phylogeny

@article {pmid38806487,
year = {2024},
author = {Bagnasco, G and Marzullo, M and Cattaneo, C and Biehler-Gomez, L and Mazzarelli, D and Ricciardi, V and Müller, W and Coppa, A and McLaughlin, R and Motta, L and Prato, O and Schmidt, F and Gaveriaux, F and Marras, GB and Millet, MA and Madgwick, R and Ballantyne, R and Makarewicz, CA and Trentacoste, A and Reimer, P and Mattiangeli, V and Bradley, DG and Malone, C and Esposito, C and Breslin, EM and Stoddart, S},
title = {Bioarchaeology aids the cultural understanding of six characters in search of their agency (Tarquinia, ninth-seventh century BC, central Italy).},
journal = {Scientific reports},
volume = {14},
number = {1},
pages = {11895},
pmid = {38806487},
issn = {2045-2322},
support = {/WT_/Wellcome Trust/United Kingdom ; },
mesh = {Italy ; Humans ; *Archaeology ; History, Ancient ; Male ; DNA, Ancient/analysis ; Female ; },
abstract = {Etruria contained one of the great early urban civilisations in the Italian peninsula during the first millennium BC, much studied from a cultural, humanities-based, perspective, but relatively little with scientific data, and rarely in combination. We have addressed the unusual location of twenty inhumations found in the sacred heart of the Etruscan city of Tarquinia, focusing on six of these as illustrative, contrasting with the typical contemporary cremations found in cemeteries on the edge of the city. The cultural evidence suggests that the six skeletons were also distinctive in their ritualization and memorialisation. Focusing on the six, as a representative sample, the scientific evidence of osteoarchaeology, isotopic compositions, and ancient DNA has established that these appear to show mobility, diversity and violence through an integrated bioarchaeological approach. The combination of multiple lines of evidence makes major strides towards a deeper understanding of the role of these extraordinary individuals in the life of the early city of Etruria.},
}

Italy
Humans
*Archaeology
History, Ancient
Male
DNA, Ancient/analysis
Female

@article {pmid38750053,
year = {2024},
author = {Cabrera, VM},
title = {New Canary Islands Roman mediated settlement hypothesis deduced from coalescence ages of curated maternal indigenous lineages.},
journal = {Scientific reports},
volume = {14},
number = {1},
pages = {11150},
pmid = {38750053},
issn = {2045-2322},
mesh = {Humans ; *DNA, Mitochondrial/genetics ; *DNA, Ancient/analysis ; *Phylogeography ; Spain ; Phylogeny ; Genetics, Population ; Indigenous Peoples/genetics ; Archaeology ; Human Migration ; History, Ancient ; High-Throughput Nucleotide Sequencing ; },
abstract = {Numerous genetic studies have contributed to reconstructing the human history of the Canary Islands population. The recent use of new ancient DNA targeted enrichment and next-generation sequencing techniques on new Canary Islands samples have greatly improved these molecular results. However, the bulk of the available data is still provided by the classic mitochondrial DNA phylogenetic and phylogeographic studies carried out on the indigenous, historical, and extant human populations of the Canary Islands. In the present study, making use of all the accumulated mitochondrial information, the existence of DNA contamination and archaeological sample misidentification in those samples is evidenced. Following a thorough review of these cases, the new phylogeographic analysis revealed the existence of a heterogeneous indigenous Canarian population, asymmetrically distributed across the various islands, which most likely descended from a unique mainland settlement. These new results and new proposed coalescent ages are compatible with a Roman-mediated arrival driven by the exploitation of the purple dye manufacture in the Canary Islands.},
}

Humans
*DNA, Mitochondrial/genetics
*DNA, Ancient/analysis
*Phylogeography
Spain
Phylogeny
Genetics, Population
Indigenous Peoples/genetics
Archaeology
Human Migration
History, Ancient
High-Throughput Nucleotide Sequencing

@article {pmid38702218,
year = {2024},
author = {Gilbert, SF},
title = {Reprint of: Prelude to molecularization: The double gradient model of Sulo Toivonen and Lauri Saxén.},
journal = {Cells & development},
volume = {178},
number = {},
pages = {203919},
doi = {10.1016/j.cdev.2024.203919},
pmid = {38702218},
issn = {2667-2901},
mesh = {History, 20th Century ; Animals ; *Body Patterning/genetics ; Models, Biological ; Developmental Biology/history ; Organizers, Embryonic/metabolism ; },
abstract = {The present molecular investigations of Organizer phenomena show a remarkable connection to the earlier classical embryological studies that used transplantation as a method for making mechanistic models of induction. One of the most prominent of these connections is the dual gradient model for anterior-posterior and dorsal-ventral polarity. This paper will discuss some of the history of how transplantation experiments provided data that could be interpreted in terms of two gradients of biologically active materials. It will highlight how the attempts to discover the elusive Induktionsstoffen gave rise to the double gradient model of Sulo Toivonen and Lauri Saxén in the 1950s and 1960s. This paper will also document how this research into the identity of these molecules gave rise to the developmental genetics that eventually would find the molecules responsible for primary embryonic induction.},
}

History, 20th Century
Animals
*Body Patterning/genetics
Models, Biological
Developmental Biology/history
Organizers, Embryonic/metabolism

@article {pmid38656677,
year = {2024},
author = {Hoquet, T},
title = {Darwin and the White Shipwrecked Sailor: Beyond Blending Inheritance and the Jenkin Myth.},
journal = {Journal of the history of biology},
volume = {57},
number = {1},
pages = {17-49},
pmid = {38656677},
issn = {1573-0387},
mesh = {History, 19th Century ; *Selection, Genetic ; Humans ; *Biological Evolution ; },
abstract = {This paper revisits Fleeming Jenkin's anonymous review of Charles Darwin's Origin of Species, published in the North British Review in June 1867. This review is usually revered for its impact on Darwin's theory of descent with modification. Its classical interpretation states that Jenkin, a Professor of Engineering at the University of Edinburgh, made a compelling case against natural selection based on the fact of "blending inheritance" and the "swamping" of advantageous variations. Those themes, however, are strikingly absent from Jenkin's text. They were later read into Jenkin's text by scholars trying to explain how Darwinian selection was reconciled with Mendelian genes and the birth of the Modern Synthesis. While many scholars have tried to measure Jenkin's effect on Darwin, the value of the 1867 review remains unclear. This paper re-examines its content and concludes that Jenkin's "able review" was in fact written by an engineer whose competencies in biology were very low. Focusing on the figure of the shipwrecked white sailor isolated on an island inhabited by Black people, this paper also underlines the racial assumptions behind Jenkin's review. "Blending inheritance" is thus a theme linked to theoretical reworkings on the question of race and skin colors, taking its root in Galton's typology of heredity. Darwin was probably mostly unimpressed by Jenkin's review. The problems raised by the review were not so much "blending inheritance" and "swamping" but a conundrum of problems related to the effects of intercrossing on variation and reversion.},
}

History, 19th Century
*Selection, Genetic
Humans
*Biological Evolution

@article {pmid38639989,
year = {2024},
author = {Cano-Prieto, C and Undabarrena, A and de Carvalho, AC and Keasling, JD and Cruz-Morales, P},
title = {Triumphs and Challenges of Natural Product Discovery in the Postgenomic Era.},
journal = {Annual review of biochemistry},
volume = {93},
number = {1},
pages = {411-445},
doi = {10.1146/annurev-biochem-032620-104731},
pmid = {38639989},
issn = {1545-4509},
mesh = {*Biological Products/chemistry/metabolism/history ; *Genomics/methods ; Humans ; Drug Discovery/methods/history ; History, 20th Century ; History, 21st Century ; },
abstract = {Natural products have played significant roles as medicine and food throughout human history. Here, we first provide a brief historical overview of natural products, their classification and biosynthetic origins, and the microbiological and genetic methods used for their discovery. We also describe and discuss the technologies that revolutionized the field, which transitioned from classic genetics to genome-centric discovery approximately two decades ago. We then highlight the most recent advancements and approaches in the current postgenomic era, in which genome mining is a standard operation and high-throughput analytical methods allow parallel discovery of genes and molecules at an unprecedented pace. Finally, we discuss the new challenges faced by the field of natural products and the future of systematic heterologous expression and strain-independent discovery, which promises to deliver more molecules in vials than ever before.},
}

*Biological Products/chemistry/metabolism/history
*Genomics/methods
Humans
Drug Discovery/methods/history
History, 20th Century
History, 21st Century

@article {pmid38491841,
year = {2024},
author = {Kendler, KS and Klee, A},
title = {Luxenburger's 1939 Essay on "Schizophrenia and its Hereditary Circle".},
journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics},
volume = {195},
number = {6},
pages = {e32977},
doi = {10.1002/ajmg.b.32977},
pmid = {38491841},
issn = {1552-485X},
mesh = {Humans ; *Schizophrenia/genetics/history ; *Genetic Predisposition to Disease ; History, 20th Century ; },
abstract = {In 1939, Hans Luxenburger published a detailed overview of the current status of schizophrenia genetics research, reaching six major conclusions. First, schizophrenia is clearly a hereditary disease. Second, however, schizophrenia is not the hereditary trait itself but rather the consequences of a slowly developing biological progress, the nature of which remains entirely unknown. Third, the full manifestation of the disorder requires certain environmental influences that must come into play. In around 30% of cases, the environment can inhibit hereditary factors so that the predisposition does not manifest in schizophrenia. Fourth, the mode of inheritance of schizophrenia remains unknown, although recessivity is more likely than dominance and monomerism is more likely than polymerism. Fifth, current evidence suggests that schizophrenia is likely etiologically homogenous. Sixth, schizophrenia is part of a hereditary circle that includes "normal" variants of the human personality (schizothymia), a pathological version of this dimension (schizoidia), and other schizophrenia-like delusional syndromes. Luxenburger is skeptical of efforts to clarify further Mendelian transmission models in the absence of pathophysiological markers because schizophrenia cannot serve as a typical phenotype for genetic analysis. By contrast, he strongly supports empirical work on hereditary prognosis, which does not depend on assumptions about any particular phenotype-genotype relationship.},
}

Humans
*Schizophrenia/genetics/history
*Genetic Predisposition to Disease
History, 20th Century

@article {pmid38453993,
year = {2024},
author = {Bergfeldt, N and Kırdök, E and Oskolkov, N and Mirabello, C and Unneberg, P and Malmström, H and Fraser, M and Sanchez-Quinto, F and Jorgensen, R and Skar, B and Lidén, K and Jakobsson, M and Storå, J and Götherström, A},
title = {Identification of microbial pathogens in Neolithic Scandinavian humans.},
journal = {Scientific reports},
volume = {14},
number = {1},
pages = {5630},
pmid = {38453993},
issn = {2045-2322},
support = {2017-02503//Vetenskapsrådet/ ; 2019-00849//Vetenskapsrådet/ ; P21-0266//Riksbankens Jubileumsfond/ ; P19.0740:1//Riksbankens Jubileumsfond/ ; },
mesh = {Humans ; Agriculture ; *DNA, Mitochondrial/genetics ; Europe ; History, Ancient ; *Yersinia/classification/isolation & purification ; *Microbiota ; },
abstract = {With the Neolithic transition, human lifestyle shifted from hunting and gathering to farming. This change altered subsistence patterns, cultural expression, and population structures as shown by the archaeological/zooarchaeological record, as well as by stable isotope and ancient DNA data. Here, we used metagenomic data to analyse if the transitions also impacted the microbiome composition in 25 Mesolithic and Neolithic hunter-gatherers and 13 Neolithic farmers from several Scandinavian Stone Age cultural contexts. Salmonella enterica, a bacterium that may have been the cause of death for the infected individuals, was found in two Neolithic samples from Battle Axe culture contexts. Several species of the bacterial genus Yersinia were found in Neolithic individuals from Funnel Beaker culture contexts as well as from later Neolithic context. Transmission of e.g. Y. enterocolitica may have been facilitated by the denser populations in agricultural contexts.},
}

Humans
Agriculture
*DNA, Mitochondrial/genetics
Europe
History, Ancient
*Yersinia/classification/isolation & purification
*Microbiota

@article {pmid38308451,
year = {2024},
author = {Navarro-Romero, MT and Muñoz, ML and Krause-Kyora, B and Cervini-Silva, J and Alcalá-Castañeda, E and David, RE},
title = {Bioanthropological analysis of human remains from the archaic and classic period discovered in Puyil cave, Mexico.},
journal = {American journal of biological anthropology},
volume = {184},
number = {2},
pages = {e24903},
doi = {10.1002/ajpa.24903},
pmid = {38308451},
issn = {2692-7691},
support = {2015-Marzo 2016-290936//Consejo Nacional de Ciencia y Tecnología/ ; 2014_Primer Periodo-380118//Consejo Nacional de Ciencia y Tecnología/ ; },
mesh = {Humans ; Mexico ; *Caves ; *DNA, Mitochondrial/genetics ; *Body Remains/chemistry/anatomy & histology ; Radiometric Dating ; Male ; History, Ancient ; Female ; Anthropology, Physical ; Archaeology ; },
abstract = {OBJECTIVES: Determine the geographic place of origin and maternal lineage of prehistoric human skeletal remains discovered in Puyil Cave, Tabasco State, Mexico, located in a region currently populated by Olmec, Zoque and Maya populations.

MATERIALS AND METHODS: All specimens were radiocarbon ([14]C) dated (beta analytic), had dental modifications classified, and had an analysis of 13 homologous reference points conducted to evaluate artificial cranial deformation (ACD). Following DNA purification, hypervariable region I (HVR-1) of the mitogenome was amplified and Sanger sequenced. Finally, Next Generation Sequencing (NGS) was performed for total DNA. Mitochondrial DNA (mtDNA) variants and haplogroups were determined using BioEdit 7.2 and IGV software and confirmed with MITOMASTER and WebHome softwares.

RESULTS: Radiocarbon dating ([14]C) demonstrated that the inhabitants of Puyil Cave lived during the Archaic and Classic Periods and displayed tabular oblique and tabular mimetic ACD. These pre-Hispanic remains exhibited five mtDNA lineages: A, A2, C1, C1c and D4. Network analysis revealed a close genetic affinity between pre-Hispanic Puyil Cave inhabitants and contemporary Maya subpopulations from Mexico and Guatemala, as well as individuals from Bolivia, Brazil, the Dominican Republic, and China.

CONCLUSIONS: Our results elucidate the dispersal of pre-Hispanic Olmec and Maya ancestors and suggest that ACD practices are closely related to Olmec and Maya practices. Additionally, we conclude that ACD has likely been practiced in the region since the Middle-Archaic Period.},
}

Humans
Mexico
*Caves
*DNA, Mitochondrial/genetics
*Body Remains/chemistry/anatomy & histology
Radiometric Dating
Male
History, Ancient
Female
Anthropology, Physical
Archaeology

@article {pmid38051388,
year = {2024},
author = {Tory, K},
title = {The dominant findings of a recessive man: from Mendel's kid pea to kidney.},
journal = {Pediatric nephrology (Berlin, Germany)},
volume = {39},
number = {7},
pages = {2049-2059},
pmid = {38051388},
issn = {1432-198X},
support = {K135798//National Research, Development and Innovation Office (NKFIA/OTKA)/ ; TKP2021-EGA-24//Ministry of Innovation and Technology of Hungary from the National Research, Development and Innovation Fund/ ; TKP2021-NVA-15//Ministry of Innovation and Technology of Hungary from the National Research, Development and Innovation Fund/ ; },
mesh = {Humans ; Male ; Genes, Dominant ; *Genes, Recessive ; History, 19th Century ; History, 20th Century ; *Kidney Diseases/genetics/history/diagnosis/congenital ; Phenotype ; },
abstract = {The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms "dominant" and "recessive" characters and determined their 3:1 ratio in the offspring of heterozygous "hybrid" plants. This distribution allowed calculation of the number of the phenotype-determining "elements," i.e., the alleles, and has been used ever since to prove the monogenic origin of a disorder. The Mendelian inheritance of monogenic kidney disorders is still of great help in distinguishing them from those with multifactorial origin in clinical practice. Inheritance of most monogenic kidney disorders fits to Mendel's observations: the equal contribution of the two parents and the complete penetrance or the direct correlation between the frequency of the recessive character and the degree of inbreeding. Nevertheless, beyond the truth of these basic concepts, several observations have expanded their genetic characteristics. The extreme genetic heterogeneity, the pleiotropy of the causal genes and the role of modifiers in ciliopathies, the digenic inheritance and parental imprinting in some tubulopathies, and the incomplete penetrance and eventual interallelic interactions in podocytopathies, reflect this expansion. For all these reasons, the transmission pattern in a natural setting may depend not only on the "character" but also on the causal gene and the variant. Mendel's passion for research combined with his modest personality and meticulous approach can still serve as an example in the work required to understand the non-Mendelian universe of genetics.},
}

Humans
Male
Genes, Dominant
*Genes, Recessive
History, 19th Century
History, 20th Century
*Kidney Diseases/genetics/history/diagnosis/congenital
Phenotype

@article {pmid38030719,
year = {2024},
author = {Fortes-Lima, CA and Burgarella, C and Hammarén, R and Eriksson, A and Vicente, M and Jolly, C and Semo, A and Gunnink, H and Pacchiarotti, S and Mundeke, L and Matonda, I and Muluwa, JK and Coutros, P and Nyambe, TS and Cikomola, JC and Coetzee, V and de Castro, M and Ebbesen, P and Delanghe, J and Stoneking, M and Barham, L and Lombard, M and Meyer, A and Steyn, M and Malmström, H and Rocha, J and Soodyall, H and Pakendorf, B and Bostoen, K and Schlebusch, CM},
title = {The genetic legacy of the expansion of Bantu-speaking peoples in Africa.},
journal = {Nature},
volume = {625},
number = {7995},
pages = {540-547},
pmid = {38030719},
issn = {1476-4687},
support = {/WT_/Wellcome Trust/United Kingdom ; },
mesh = {Humans ; Africa, Western ; Datasets as Topic ; Democratic Republic of the Congo ; *DNA, Ancient/analysis ; *Emigration and Immigration/history ; Founder Effect ; Gene Flow/genetics ; Genetic Variation/genetics ; *Genetics, Population ; History, Ancient ; *Language/history ; Linguistics/history ; Zambia ; Geographic Mapping ; },
abstract = {The expansion of people speaking Bantu languages is the most dramatic demographic event in Late Holocene Africa and fundamentally reshaped the linguistic, cultural and biological landscape of the continent[1-7]. With a comprehensive genomic dataset, including newly generated data of modern-day and ancient DNA from previously unsampled regions in Africa, we contribute insights into this expansion that started 6,000-4,000 years ago in western Africa. We genotyped 1,763 participants, including 1,526 Bantu speakers from 147 populations across 14 African countries, and generated whole-genome sequences from 12 Late Iron Age individuals[8]. We show that genetic diversity amongst Bantu-speaking populations declines with distance from western Africa, with current-day Zambia and the Democratic Republic of Congo as possible crossroads of interaction. Using spatially explicit methods[9] and correlating genetic, linguistic and geographical data, we provide cross-disciplinary support for a serial-founder migration model. We further show that Bantu speakers received significant gene flow from local groups in regions they expanded into. Our genetic dataset provides an exhaustive modern-day African comparative dataset for ancient DNA studies[10] and will be important to a wide range of disciplines from science and humanities, as well as to the medical sector studying human genetic variation and health in African and African-descendant populations.},
}

Humans
Africa, Western
Datasets as Topic
Democratic Republic of the Congo
*DNA, Ancient/analysis
*Emigration and Immigration/history
Founder Effect
Gene Flow/genetics
Genetic Variation/genetics
*Genetics, Population
History, Ancient
*Language/history
Linguistics/history
Zambia
Geographic Mapping

@article {pmid37932928,
year = {2024},
author = {Kendler, KS and Klee, A},
title = {Bruno Schulz's 1936 book "Methodology of medical genetic research particularly with regard to psychiatry".},
journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics},
volume = {195},
number = {3},
pages = {e32963},
doi = {10.1002/ajmg.b.32963},
pmid = {37932928},
issn = {1552-485X},
mesh = {Male ; Humans ; *Psychiatry/history ; Eugenics/history ; Genetic Research ; Books ; Germany ; },
abstract = {In 1936, Bruno Schulz published the first detailed, book-length review of the methodology of psychiatric genetic research, based on his experiences at the German Research Institute of Psychiatry. Emphasis is placed on proper selection of relatives and the ascertainment corrections required for Mendelian transmission models. Twin studies are considered as is the impact of reduced fertility on patterns of risk. For the field work, Schulz emphasizes the importance of trust-building, confidentiality, collateral informants, and the use of medical and other administrative records, all ideally stored in personal files. Several methods of age-correction are reviewed. Schulz provides detailed algebraic treatments of these and other problems, including tests for etiologic homogeneity, with worked examples. He emphasizes two fundamental concerns in psychiatric genetics research: (i) its inter-dependency with the optimal diagnostic boundaries, which are rarely known and (ii) the genetic homogeneity of clinical samples. Given these problems, he is pessimistic about finding Mendelian transmission patterns. He assesses the predominant 19th-century method of psychiatric genetic investigation-"hereditary burden"-to be crude and biased by family size. Although written at a time of consolidation of Nazi power in Germany, this book nowhere endorses their racial/eugenic policies and can be seen as subtly questioning them.},
}

Male
Humans
*Psychiatry/history
Eugenics/history
Genetic Research
Books
Germany

@article {pmid37528090,
year = {2023},
author = {Chyleński, M and Makarowicz, P and Juras, A and Krzewińska, M and Pospieszny, Ł and Ehler, E and Breszka, A and Górski, J and Taras, H and Szczepanek, A and Polańska, M and Włodarczak, P and Lasota-Kuś, A and Wójcik, I and Romaniszyn, J and Szmyt, M and Kośko, A and Ignaczak, M and Sadowski, S and Matoga, A and Grossman, A and Ilchyshyn, V and Yahodinska, MO and Romańska, A and Tunia, K and Przybyła, M and Grygiel, R and Szostek, K and Dabert, M and Götherström, A and Jakobsson, M and Malmström, H},
title = {Patrilocality and hunter-gatherer-related ancestry of populations in East-Central Europe during the Middle Bronze Age.},
journal = {Nature communications},
volume = {14},
number = {1},
pages = {4395},
pmid = {37528090},
issn = {2041-1723},
mesh = {Humans ; History, Ancient ; *Human Migration ; *Genome, Human/genetics ; Europe ; Poland ; Social Change ; },
abstract = {The demographic history of East-Central Europe after the Neolithic period remains poorly explored, despite this region being on the confluence of various ecological zones and cultural entities. Here, the descendants of societies associated with steppe pastoralists form Early Bronze Age were followed by Middle Bronze Age populations displaying unique characteristics. Particularly, the predominance of collective burials, the scale of which, was previously seen only in the Neolithic. The extent to which this re-emergence of older traditions is a result of genetic shift or social changes in the MBA is a subject of debate. Here by analysing 91 newly generated genomes from Bronze Age individuals from present Poland and Ukraine, we discovered that Middle Bronze Age populations were formed by an additional admixture event involving a population with relatively high proportions of genetic component associated with European hunter-gatherers and that their social structure was based on, primarily patrilocal, multigenerational kin-groups.},
}

Humans
History, Ancient
*Human Migration
*Genome, Human/genetics
Europe
Poland
Social Change

@article {pmid37286608,
year = {2023},
author = {Simões, LG and Günther, T and Martínez-Sánchez, RM and Vera-Rodríguez, JC and Iriarte, E and Rodríguez-Varela, R and Bokbot, Y and Valdiosera, C and Jakobsson, M},
title = {Northwest African Neolithic initiated by migrants from Iberia and Levant.},
journal = {Nature},
volume = {618},
number = {7965},
pages = {550-556},
pmid = {37286608},
issn = {1476-4687},
mesh = {Humans ; Africa, Northern ; *Agriculture/history ; *Archaeology ; Europe/ethnology ; Farmers/history ; Genome, Human/genetics ; Genomics ; History, Ancient ; *Human Migration/history ; *Transients and Migrants/history ; Africa, Western ; Diffusion of Innovation ; },
abstract = {In northwestern Africa, lifestyle transitioned from foraging to food production around 7,400 years ago but what sparked that change remains unclear. Archaeological data support conflicting views: (1) that migrant European Neolithic farmers brought the new way of life to North Africa[1-3] or (2) that local hunter-gatherers adopted technological innovations[4,5]. The latter view is also supported by archaeogenetic data[6]. Here we fill key chronological and archaeogenetic gaps for the Maghreb, from Epipalaeolithic to Middle Neolithic, by sequencing the genomes of nine individuals (to between 45.8- and 0.2-fold genome coverage). Notably, we trace 8,000 years of population continuity and isolation from the Upper Palaeolithic, via the Epipaleolithic, to some Maghrebi Neolithic farming groups. However, remains from the earliest Neolithic contexts showed mostly European Neolithic ancestry. We suggest that farming was introduced by European migrants and was then rapidly adopted by local groups. During the Middle Neolithic a new ancestry from the Levant appears in the Maghreb, coinciding with the arrival of pastoralism in the region, and all three ancestries blend together during the Late Neolithic. Our results show ancestry shifts in the Neolithization of northwestern Africa that probably mirrored a heterogeneous economic and cultural landscape, in a more multifaceted process than observed in other regions.},
}

Humans
Africa, Northern
*Agriculture/history
*Archaeology
Europe/ethnology
Farmers/history
Genome, Human/genetics
Genomics
History, Ancient
*Human Migration/history
*Transients and Migrants/history
Africa, Western
Diffusion of Innovation

@article {pmid37148220,
year = {2023},
author = {Schioldann, J},
title = {Classic Text No. 135: 'On inheritance of the insanities', by Jens Chr. Smith (1924).},
journal = {History of psychiatry},
volume = {34},
number = {3},
pages = {350-362},
doi = {10.1177/0957154X231169217},
pmid = {37148220},
issn = {0957-154X},
mesh = {Humans ; History, 20th Century ; Adolescent ; *Psychotic Disorders/genetics/history ; *Psychiatry/history ; Translations ; },
abstract = {Serious and realistic research into the inheritance of the psychoses started in earnest at the beginning of the twentieth century. This was encouraged by both the acceptance of the Kraepelinian classification and the rediscovery of the Mendelian model of inheritance. The application of Mendelian rules to the very complex genetics of the psychoses led to agonizing debate. The Classic Text is a translation of the introduction of the doctoral thesis of Jens Chr. Smith, a little-known Danish psychiatrist who was able to summarize, with the enthusiasm typical to his youth and with surprising accuracy, the early stages of the debate mentioned above.},
}

Humans
History, 20th Century
Adolescent
*Psychotic Disorders/genetics/history
*Psychiatry/history
Translations

@article {pmid37068234,
year = {2023},
author = {Cohen, P and Bacilieri, R and Ramos-Madrigal, J and Privman, E and Boaretto, E and Weber, A and Fuks, D and Weiss, E and Erickson-Gini, T and Bucking, S and Tepper, Y and Cvikel, D and Schmidt, J and Gilbert, MTP and Wales, N and Bar-Oz, G and Meiri, M},
title = {Ancient DNA from a lost Negev Highlands desert grape reveals a Late Antiquity wine lineage.},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
volume = {120},
number = {17},
pages = {e2213563120},
pmid = {37068234},
issn = {1091-6490},
mesh = {History, Ancient ; *Vitis/genetics ; *Wine ; DNA, Ancient ; Archaeology ; Israel ; },
abstract = {Recent excavations of Late Antiquity settlements in the Negev Highlands of southern Israel uncovered a society that established commercial-scale viticulture in an arid environment [D. Fuks et al., Proc. Natl. Acad. Sci. U.S.A. 117, 19780-19791 (2020)]. We applied target-enriched genome-wide sequencing and radiocarbon dating to examine grapevine pips that were excavated at three of these sites. Our analyses revealed centuries long and continuous grape cultivation in the Southern Levant. The genetically diverse pips also provided clues to ancient cultivation strategies aimed at improving agricultural productivity and ensuring food security. Applying genomic prediction analysis, a pip dated to the eighth century CE was determined to likely be from a white grape, to date the oldest to be identified. In a kinship analysis, another pip was found to be descendant from a modern Greek cultivar and was thus linked with several popular historic wines that were once traded across the Byzantine Empire. These findings shed light on historical Byzantine trading networks and on the genetic contribution of Levantine varieties to the classic Aegean landscape.},
}

History, Ancient
*Vitis/genetics
*Wine
DNA, Ancient
Archaeology
Israel

@article {pmid36946062,
year = {2023},
author = {Ptushenko, VV and Ramensky, EV},
title = {Biologist Nikolai K. Koltzoff: the forgotten genius.},
journal = {Genetics},
volume = {224},
number = {1},
pages = {},
doi = {10.1093/genetics/iyad033},
pmid = {36946062},
issn = {1943-2631},
mesh = {Animals ; History, 20th Century ; *Heredity ; Russia ; Biological Evolution ; Mutagenesis ; *Bombyx ; },
abstract = {Nikolai K. Koltzoff (Koltsov) (1872-1940) is one of the key figures in Russian biology. He essentially initiated Russian physicochemical biology and established a large scientific school in the area. Among his disciples, there are the geneticists B.L. Astaurov, S.S. Chetverikov, N.P. Dubinin, V.P. Efroimson, I.A. Rapoport, V.V. Sakharov, and N.V. Timofeeff-Ressovsky; histologist G.I. Roskin, experimental surgeon A.G. Lapchinsky, developmental biologist M.M. Zavadovsky, physiologist L.V. Krushinsky, microbiologist S.M. Gershenson, biochemist V.A. Engelhardt, hydrobiologist G.G. Vinberg, cytologist M.A. Peshkov, and many other famous Soviet biologists. He made several fundamental discoveries; the first of them was the discovery of the cytoskeleton (1903). He was the first to formulate the idea of a crystal-like mechanism for copying inherited information (1927) and the principles of epigenetics (as well as the term itself, in 1934; it seems astonishing, but as early as 1915, he hypothesized that the gene methylation might be a mechanism of genetic variability). He started the work which later led his disciples V.V. Sakharov and I.A. Rapoport to the discovery of chemical mutagenesis. His research on sex regulation in silkworms was later successfully continued by B.L. Astaurov. Koltzoff encouraged S.S. Chetverikov, the entomologist, to study the genetics of natural Drosophila populations, which went on to form the basis of the Modern Synthesis reconciling Darwinian evolutionary theory and the Mendelian laws of heredity. Unfortunately, the name of N.K. Koltzoff has almost sunk into oblivion. This is largely due to the fact that mentioning his name was prohibited in the USSR over a long period of time, since he was a staunch opponent of Lysenko. In this paper dedicated to the 150th anniversary of Koltzoff, we briefly describe the milestones of the life and scientific research of this outstanding biologist and his scientific school.},
}

Animals
History, 20th Century
*Heredity
Russia
Biological Evolution
Mutagenesis
*Bombyx

@article {pmid36943805,
year = {2023},
author = {van Dijk, PJ and Noel Ellis, TH},
title = {Gregor Mendel and the theory of species multiplication.},
journal = {Genetics},
volume = {224},
number = {2},
pages = {},
doi = {10.1093/genetics/iyad046},
pmid = {36943805},
issn = {1943-2631},
mesh = {History, 19th Century ; Phenotype ; *Hybridization, Genetic ; Inheritance Patterns ; Pisum sativum/genetics ; Databases, Genetic ; *Genetics ; },
abstract = {According to the revisionist interpretation of Mendel's pea crosses, his primary aim was not to study the inheritance of traits. Instead, he was interested in the question raised by Linnaeus as to whether new species could arise from the hybridization of existing species. The genetic interpretation is therefore seen as ahistorical by the revisionists. This view goes back to the 1979 article "Mendel no Mendelian?" by the historian of science R.C. Olby. A closer analysis shows that Olby implicitly assumed Mendel adhered to the unusual strictest species definition for Pisum. However, we argue that Mendel only mentions the hypothetical application of this strict definition in his 1866 paper. Like most of his contemporaries, Mendel accepted variation within species where the differences between varieties and species were a matter of degree. After researching variable hybrids in peas (Pisum; 1854-1863), Mendel also studied constant hybrids in hawkweeds (Hieracium; 1866-1873), which he considered to be new species. There is no debate about the latter, but the matter becomes muddled because Olby lumps Pisum and Hieracium together, despite their having completely different reproduction systems. Based on newly discovered historical sources, we also dispute several other assumptions made by Olby. We do not consider Olby's claim that Mendel conducted the Pisum experiments to investigate species multiplication to be tenable.},
}

History, 19th Century
Phenotype
*Hybridization, Genetic
Inheritance Patterns
Pisum sativum/genetics
Databases, Genetic
*Genetics

@article {pmid36847224,
year = {2023},
author = {Kendler, KS and Klee, A},
title = {The era of the Dawn of Mendelian research in the field of psychiatry: Rüdin's 1922 review paper "regarding the heredity of mental disturbances".},
journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics},
volume = {192},
number = {3-4},
pages = {53-61},
doi = {10.1002/ajmg.b.32934},
pmid = {36847224},
issn = {1552-485X},
mesh = {Humans ; History, 20th Century ; Eugenics ; *Heredity ; *Mental Disorders ; *Bipolar Disorder ; *Psychiatry ; Germany ; },
abstract = {On September 27, 1922, Ernst Rüdin gave an address to the Annual Conference of the German Society of Genetics entitled "Regarding the Heredity of Mental Disturbances." Published in a 37-page article, Rüdin reviewed the progress in the field of Mendelian psychiatric genetics, then hardly more than a decade old. Topics included (a) the status of Mendelian analyses of dementia praecox and manic-depressive insanity which had expanded to include two and three locus and early polygenic models and sometimes included, respectively, schizoid and cyclothymic personalities; (b) a critique of theories for the explanation of co-occurrence of different psychiatric disorders within families; and (c) a sharp methodologic critique of Davenport and Rosanoff's contemporary work which emphasized Rüdin's commitment to careful, expert phenotyping, a primary focus on well-validated psychiatric disorders and not broad spectra of putatively inter-related conditions, and an emphasis on rigorous statistical modeling as seen in his continued collaboration with Wilhelm Weinberg.},
}

Humans
History, 20th Century
Eugenics
*Heredity
*Mental Disorders
*Bipolar Disorder
*Psychiatry
Germany

@article {pmid36493775,
year = {2023},
author = {Koptekin, D and Yüncü, E and Rodríguez-Varela, R and Altınışık, NE and Psonis, N and Kashuba, N and Yorulmaz, S and George, R and Kazancı, DD and Kaptan, D and Gürün, K and Vural, KB and Gemici, HC and Vassou, D and Daskalaki, E and Karamurat, C and Lagerholm, VK and Erdal, ÖD and Kırdök, E and Marangoni, A and Schachner, A and Üstündağ, H and Shengelia, R and Bitadze, L and Elashvili, M and Stravopodi, E and Özbaşaran, M and Duru, G and Nafplioti, A and Rose, CB and Gencer, T and Darbyshire, G and Gavashelishvili, A and Pitskhelauri, K and Çevik, Ö and Vuruşkan, O and Kyparissi-Apostolika, N and Büyükkarakaya, AM and Oğuzhanoğlu, U and Günel, S and Tabakaki, E and Aliev, A and Ibrahimov, A and Shadlinski, V and Sampson, A and Kılınç, GM and Atakuman, Ç and Stamatakis, A and Poulakakis, N and Erdal, YS and Pavlidis, P and Storå, J and Özer, F and Götherström, A and Somel, M},
title = {Spatial and temporal heterogeneity in human mobility patterns in Holocene Southwest Asia and the East Mediterranean.},
journal = {Current biology : CB},
volume = {33},
number = {1},
pages = {41-57.e15},
pmid = {36493775},
issn = {1879-0445},
mesh = {Humans ; Male ; History, Ancient ; *Racial Groups ; Iran ; *Genome, Human ; Gene Flow ; Human Migration ; Genetics, Population ; },
abstract = {We present a spatiotemporal picture of human genetic diversity in Anatolia, Iran, Levant, South Caucasus, and the Aegean, a broad region that experienced the earliest Neolithic transition and the emergence of complex hierarchical societies. Combining 35 new ancient shotgun genomes with 382 ancient and 23 present-day published genomes, we found that genetic diversity within each region steadily increased through the Holocene. We further observed that the inferred sources of gene flow shifted in time. In the first half of the Holocene, Southwest Asian and the East Mediterranean populations homogenized among themselves. Starting with the Bronze Age, however, regional populations diverged from each other, most likely driven by gene flow from external sources, which we term "the expanding mobility model." Interestingly, this increase in inter-regional divergence can be captured by outgroup-f3-based genetic distances, but not by the commonly used FST statistic, due to the sensitivity of FST, but not outgroup-f3, to within-population diversity. Finally, we report a temporal trend of increasing male bias in admixture events through the Holocene.},
}

Humans
Male
History, Ancient
*Racial Groups
Iran
*Genome, Human
Gene Flow
Human Migration
Genetics, Population

@article {pmid36260544,
year = {2022},
author = {Kendler, KS and Klee, A},
title = {Hermann Hoffmann's 1921 Monograph: "The Offspring of Endogenous Psychoses: Genealogical-Characterological Examinations".},
journal = {Schizophrenia bulletin},
volume = {48},
number = {Suppl 1},
pages = {S20-S27},
pmid = {36260544},
issn = {1745-1701},
mesh = {Adult ; Humans ; Eugenics ; *Psychotic Disorders ; },
abstract = {Five years after the publication of Rüdin's major sibling study, Hermann Hoffmann, working with Rüdin, performed the first systematic study of the risk for dementia praecox (DP) in offspring of DP probands. Field work was limited to 3 months. Hoffmann ascertained families with at least one parent with certain DP, after Kraepelin, with children the youngest of whom were at least 30 years old. These families contained 103 offspring 30 years or older of whom 7 had definite DP and two possible DP for an estimated risk of 6.8%-8.7%. Hoffmann assessed schizoidia in these children, reporting the quite high risk figure of 47.6%. Hoffmann explored a wide range of two and three locus recessive models in his modest sample. He finds Rüdin's two locus recessive model at the boundary of his results and then reviews three additional more complex models. The simplest is a three-locus recessive model which fits his data better. He also explores an oligogenic three locus model with risk classes of individuals with 1 to 6 risk alleles and an epistatic model where two loci form a di-recessive model for schizoidia, and the third locus is a dominant required for the expression of psychosis. Hoffman questioned whether DP was a "unit-character" appropriate for Mendelian analysis and advocated for a much larger study of offspring. His work should be appreciated in light of his enthusiastic endorsement of Nazi eugenic goals.},
}

Adult
Humans
Eugenics
*Psychotic Disorders

@article {pmid36260542,
year = {2022},
author = {Kendler, KS and Klee, A},
title = {Rüdin's 1916 Monograph: On the Inheritance and Primary Origin of Dementia Praecox.},
journal = {Schizophrenia bulletin},
volume = {48},
number = {Suppl 1},
pages = {S8-S19},
pmid = {36260542},
issn = {1745-1701},
mesh = {Male ; Humans ; Eugenics ; *Psychotic Disorders ; Risk Factors ; Morbidity ; *Schizophrenia/genetics ; },
abstract = {In 1916, Ernst Rüdin published the first modern family study in the history of psychiatric genetics, the major goal of which was to test whether the pattern of risk in the siblings of dementia praecox (DP) probands followed Mendelian expectations. He utilized systematic ascertainment of probands and multisourced diagnostic assessments of probands and relatives, applying the narrow Kraepelinian concept of DP. In a novel step, he collaborated closely with a statistical geneticist-Wilhelm Weinberg-and applied his sibling, proband, and age correction methods. In his key sample-701 sibships when neither parent had DP-the morbid risk for DP in siblings was 4.48%, much lower than 25% expected for a recessive disorder. Risk for DP was increased by alcoholism or other mental disorders in parents. Other non-DP psychoses were common in both siblings and parents of DP probands. Rüdin discussed several alternative genetic models for DP including a 2-locus recessive, incomplete penetrance, and an oligogenic model. The high rates of other psychoses and psychopathic personalities in relatives might arise, he suggested, because these disorders shared genetic risks with DP. Rüdin established that DP, when carefully studied, ran in families, did not have a simple Mendelian genetic transmission pattern, and appeared likely to be genetically related to other non-DP psychotic disorders and perhaps some kinds of psychopathic personalities. This study, the most important in Rüdin's career, should be viewed in the context of his later extensive support of and collaboration with Nazi eugenic policies.},
}

Male
Humans
Eugenics
*Psychotic Disorders
Risk Factors
Morbidity
*Schizophrenia/genetics

@article {pmid36191217,
year = {2022},
author = {Reitsema, LJ and Mittnik, A and Kyle, B and Catalano, G and Fabbri, PF and Kazmi, ACS and Reinberger, KL and Sineo, L and Vassallo, S and Bernardos, R and Broomandkhoshbacht, N and Callan, K and Candilio, F and Cheronet, O and Curtis, E and Fernandes, D and Lari, M and Lawson, AM and Mah, M and Mallick, S and Mandl, K and Micco, A and Modi, A and Oppenheimer, J and Özdogan, KT and Rohland, N and Stewardson, K and Vai, S and Vergata, C and Workman, JN and Zalzala, F and Zaro, V and Achilli, A and Anagnostopoulos, A and Capelli, C and Constantinou, V and Lancioni, H and Olivieri, A and Papadopoulou, A and Psatha, N and Semino, O and Stamatoyannopoulos, J and Valliannou, I and Yannaki, E and Lazaridis, I and Patterson, N and Ringbauer, H and Caramelli, D and Pinhasi, R and Reich, D},
title = {The diverse genetic origins of a Classical period Greek army.},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
volume = {119},
number = {41},
pages = {e2205272119},
pmid = {36191217},
issn = {1091-6490},
support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG012287/HG/NHGRI NIH HHS/United States ; n/a//Howard Hughes Medical Institute (HHMI)/ ; },
mesh = {*Archaeology/methods ; Europe ; Greece ; History, Ancient ; Humans ; *Military Personnel ; Warfare ; },
abstract = {Trade and colonization caused an unprecedented increase in Mediterranean human mobility in the first millennium BCE. Often seen as a dividing force, warfare is in fact another catalyst of culture contact. We provide insight into the demographic dynamics of ancient warfare by reporting genome-wide data from fifth-century soldiers who fought for the army of the Greek Sicilian colony of Himera, along with representatives of the civilian population, nearby indigenous settlements, and 96 present-day individuals from Italy and Greece. Unlike the rest of the sample, many soldiers had ancestral origins in northern Europe, the Steppe, and the Caucasus. Integrating genetic, archaeological, isotopic, and historical data, these results illustrate the significant role mercenaries played in ancient Greek armies and highlight how participation in war contributed to continental-scale human mobility in the Classical world.},
}

*Archaeology/methods
Europe
Greece
History, Ancient
Humans
*Military Personnel
Warfare

@article {pmid36007055,
year = {2022},
author = {Lazaridis, I and Alpaslan-Roodenberg, S and Acar, A and Açıkkol, A and Agelarakis, A and Aghikyan, L and Akyüz, U and Andreeva, D and Andrijašević, G and Antonović, D and Armit, I and Atmaca, A and Avetisyan, P and Aytek, Aİ and Bacvarov, K and Badalyan, R and Bakardzhiev, S and Balen, J and Bejko, L and Bernardos, R and Bertsatos, A and Biber, H and Bilir, A and Bodružić, M and Bonogofsky, M and Bonsall, C and Borić, D and Borovinić, N and Bravo Morante, G and Buttinger, K and Callan, K and Candilio, F and Carić, M and Cheronet, O and Chohadzhiev, S and Chovalopoulou, ME and Chryssoulaki, S and Ciobanu, I and Čondić, N and Constantinescu, M and Cristiani, E and Culleton, BJ and Curtis, E and Davis, J and Demcenco, TI and Dergachev, V and Derin, Z and Deskaj, S and Devejyan, S and Djordjević, V and Duffett Carlson, KS and Eccles, LR and Elenski, N and Engin, A and Erdoğan, N and Erir-Pazarcı, S and Fernandes, DM and Ferry, M and Freilich, S and Frînculeasa, A and Galaty, ML and Gamarra, B and Gasparyan, B and Gaydarska, B and Genç, E and Gültekin, T and Gündüz, S and Hajdu, T and Heyd, V and Hobosyan, S and Hovhannisyan, N and Iliev, I and Iliev, L and Iliev, S and İvgin, İ and Janković, I and Jovanova, L and Karkanas, P and Kavaz-Kındığılı, B and Kaya, EH and Keating, D and Kennett, DJ and Deniz Kesici, S and Khudaverdyan, A and Kiss, K and Kılıç, S and Klostermann, P and Kostak Boca Negra Valdes, S and Kovačević, S and Krenz-Niedbała, M and Krznarić Škrivanko, M and Kurti, R and Kuzman, P and Lawson, AM and Lazar, C and Leshtakov, K and Levy, TE and Liritzis, I and Lorentz, KO and Łukasik, S and Mah, M and Mallick, S and Mandl, K and Martirosyan-Olshansky, K and Matthews, R and Matthews, W and McSweeney, K and Melikyan, V and Micco, A and Michel, M and Milašinović, L and Mittnik, A and Monge, JM and Nekhrizov, G and Nicholls, R and Nikitin, AG and Nikolov, V and Novak, M and Olalde, I and Oppenheimer, J and Osterholtz, A and Özdemir, C and Özdoğan, KT and Öztürk, N and Papadimitriou, N and Papakonstantinou, N and Papathanasiou, A and Paraman, L and Paskary, EG and Patterson, N and Petrakiev, I and Petrosyan, L and Petrova, V and Philippa-Touchais, A and Piliposyan, A and Pocuca Kuzman, N and Potrebica, H and Preda-Bălănică, B and Premužić, Z and Price, TD and Qiu, L and Radović, S and Raeuf Aziz, K and Rajić Šikanjić, P and Rasheed Raheem, K and Razumov, S and Richardson, A and Roodenberg, J and Ruka, R and Russeva, V and Şahin, M and Şarbak, A and Savaş, E and Schattke, C and Schepartz, L and Selçuk, T and Sevim-Erol, A and Shamoon-Pour, M and Shephard, HM and Sideris, A and Simalcsik, A and Simonyan, H and Sinika, V and Sirak, K and Sirbu, G and Šlaus, M and Soficaru, A and Söğüt, B and Sołtysiak, A and Sönmez-Sözer, Ç and Stathi, M and Steskal, M and Stewardson, K and Stocker, S and Suata-Alpaslan, F and Suvorov, A and Szécsényi-Nagy, A and Szeniczey, T and Telnov, N and Temov, S and Todorova, N and Tota, U and Touchais, G and Triantaphyllou, S and Türker, A and Ugarković, M and Valchev, T and Veljanovska, F and Videvski, Z and Virag, C and Wagner, A and Walsh, S and Włodarczak, P and Workman, JN and Yardumian, A and Yarovoy, E and Yavuz, AY and Yılmaz, H and Zalzala, F and Zettl, A and Zhang, Z and Çavuşoğlu, R and Rohland, N and Pinhasi, R and Reich, D and Davtyan, R},
title = {The genetic history of the Southern Arc: A bridge between West Asia and Europe.},
journal = {Science (New York, N.Y.)},
volume = {377},
number = {6609},
pages = {eabm4247},
pmid = {36007055},
issn = {1095-9203},
support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG012287/HG/NHGRI NIH HHS/United States ; },
mesh = {Asia ; Balkan Peninsula ; Europe ; *Gene Flow ; *Genome, Human ; History, Ancient ; *Human Migration/history ; Humans ; White People/genetics ; },
abstract = {By sequencing 727 ancient individuals from the Southern Arc (Anatolia and its neighbors in Southeastern Europe and West Asia) over 10,000 years, we contextualize its Chalcolithic period and Bronze Age (about 5000 to 1000 BCE), when extensive gene flow entangled it with the Eurasian steppe. Two streams of migration transmitted Caucasus and Anatolian/Levantine ancestry northward, and the Yamnaya pastoralists, formed on the steppe, then spread southward into the Balkans and across the Caucasus into Armenia, where they left numerous patrilineal descendants. Anatolia was transformed by intra-West Asian gene flow, with negligible impact of the later Yamnaya migrations. This contrasts with all other regions where Indo-European languages were spoken, suggesting that the homeland of the Indo-Anatolian language family was in West Asia, with only secondary dispersals of non-Anatolian Indo-Europeans from the steppe.},
}

Asia
Balkan Peninsula
Europe
*Gene Flow
*Genome, Human
History, Ancient
*Human Migration/history
Humans
White People/genetics

@article {pmid36007054,
year = {2022},
author = {Lazaridis, I and Alpaslan-Roodenberg, S and Acar, A and Açıkkol, A and Agelarakis, A and Aghikyan, L and Akyüz, U and Andreeva, D and Andrijašević, G and Antonović, D and Armit, I and Atmaca, A and Avetisyan, P and Aytek, Aİ and Bacvarov, K and Badalyan, R and Bakardzhiev, S and Balen, J and Bejko, L and Bernardos, R and Bertsatos, A and Biber, H and Bilir, A and Bodružić, M and Bonogofsky, M and Bonsall, C and Borić, D and Borovinić, N and Bravo Morante, G and Buttinger, K and Callan, K and Candilio, F and Carić, M and Cheronet, O and Chohadzhiev, S and Chovalopoulou, ME and Chryssoulaki, S and Ciobanu, I and Čondić, N and Constantinescu, M and Cristiani, E and Culleton, BJ and Curtis, E and Davis, J and Demcenco, TI and Dergachev, V and Derin, Z and Deskaj, S and Devejyan, S and Djordjević, V and Duffett Carlson, KS and Eccles, LR and Elenski, N and Engin, A and Erdoğan, N and Erir-Pazarcı, S and Fernandes, DM and Ferry, M and Freilich, S and Frînculeasa, A and Galaty, ML and Gamarra, B and Gasparyan, B and Gaydarska, B and Genç, E and Gültekin, T and Gündüz, S and Hajdu, T and Heyd, V and Hobosyan, S and Hovhannisyan, N and Iliev, I and Iliev, L and Iliev, S and İvgin, İ and Janković, I and Jovanova, L and Karkanas, P and Kavaz-Kındığılı, B and Kaya, EH and Keating, D and Kennett, DJ and Deniz Kesici, S and Khudaverdyan, A and Kiss, K and Kılıç, S and Klostermann, P and Kostak Boca Negra Valdes, S and Kovačević, S and Krenz-Niedbała, M and Krznarić Škrivanko, M and Kurti, R and Kuzman, P and Lawson, AM and Lazar, C and Leshtakov, K and Levy, TE and Liritzis, I and Lorentz, KO and Łukasik, S and Mah, M and Mallick, S and Mandl, K and Martirosyan-Olshansky, K and Matthews, R and Matthews, W and McSweeney, K and Melikyan, V and Micco, A and Michel, M and Milašinović, L and Mittnik, A and Monge, JM and Nekhrizov, G and Nicholls, R and Nikitin, AG and Nikolov, V and Novak, M and Olalde, I and Oppenheimer, J and Osterholtz, A and Özdemir, C and Özdoğan, KT and Öztürk, N and Papadimitriou, N and Papakonstantinou, N and Papathanasiou, A and Paraman, L and Paskary, EG and Patterson, N and Petrakiev, I and Petrosyan, L and Petrova, V and Philippa-Touchais, A and Piliposyan, A and Pocuca Kuzman, N and Potrebica, H and Preda-Bălănică, B and Premužić, Z and Price, TD and Qiu, L and Radović, S and Raeuf Aziz, K and Rajić Šikanjić, P and Rasheed Raheem, K and Razumov, S and Richardson, A and Roodenberg, J and Ruka, R and Russeva, V and Şahin, M and Şarbak, A and Savaş, E and Schattke, C and Schepartz, L and Selçuk, T and Sevim-Erol, A and Shamoon-Pour, M and Shephard, HM and Sideris, A and Simalcsik, A and Simonyan, H and Sinika, V and Sirak, K and Sirbu, G and Šlaus, M and Soficaru, A and Söğüt, B and Sołtysiak, A and Sönmez-Sözer, Ç and Stathi, M and Steskal, M and Stewardson, K and Stocker, S and Suata-Alpaslan, F and Suvorov, A and Szécsényi-Nagy, A and Szeniczey, T and Telnov, N and Temov, S and Todorova, N and Tota, U and Touchais, G and Triantaphyllou, S and Türker, A and Ugarković, M and Valchev, T and Veljanovska, F and Videvski, Z and Virag, C and Wagner, A and Walsh, S and Włodarczak, P and Workman, JN and Yardumian, A and Yarovoy, E and Yavuz, AY and Yılmaz, H and Zalzala, F and Zettl, A and Zhang, Z and Çavuşoğlu, R and Rohland, N and Pinhasi, R and Reich, D and Davtyan, R},
title = {Ancient DNA from Mesopotamia suggests distinct Pre-Pottery and Pottery Neolithic migrations into Anatolia.},
journal = {Science (New York, N.Y.)},
volume = {377},
number = {6609},
pages = {982-987},
pmid = {36007054},
issn = {1095-9203},
support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG012287/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; },
mesh = {Archaeology ; Armenia ; Cyprus ; DNA, Ancient ; *Farmers/history ; *Gene Flow ; History, Ancient ; *Human Migration/history ; Mesopotamia ; },
abstract = {We present the first ancient DNA data from the Pre-Pottery Neolithic of Mesopotamia (Southeastern Turkey and Northern Iraq), Cyprus, and the Northwestern Zagros, along with the first data from Neolithic Armenia. We show that these and neighboring populations were formed through admixture of pre-Neolithic sources related to Anatolian, Caucasus, and Levantine hunter-gatherers, forming a Neolithic continuum of ancestry mirroring the geography of West Asia. By analyzing Pre-Pottery and Pottery Neolithic populations of Anatolia, we show that the former were derived from admixture between Mesopotamian-related and local Epipaleolithic-related sources, but the latter experienced additional Levantine-related gene flow, thus documenting at least two pulses of migration from the Fertile Crescent heartland to the early farmers of Anatolia.},
}

Archaeology
Armenia
Cyprus
DNA, Ancient
*Farmers/history
*Gene Flow
History, Ancient
*Human Migration/history
Mesopotamia

@article {pmid36007020,
year = {2022},
author = {Lazaridis, I and Alpaslan-Roodenberg, S and Acar, A and Açıkkol, A and Agelarakis, A and Aghikyan, L and Akyüz, U and Andreeva, D and Andrijašević, G and Antonović, D and Armit, I and Atmaca, A and Avetisyan, P and Aytek, Aİ and Bacvarov, K and Badalyan, R and Bakardzhiev, S and Balen, J and Bejko, L and Bernardos, R and Bertsatos, A and Biber, H and Bilir, A and Bodružić, M and Bonogofsky, M and Bonsall, C and Borić, D and Borovinić, N and Bravo Morante, G and Buttinger, K and Callan, K and Candilio, F and Carić, M and Cheronet, O and Chohadzhiev, S and Chovalopoulou, ME and Chryssoulaki, S and Ciobanu, I and Čondić, N and Constantinescu, M and Cristiani, E and Culleton, BJ and Curtis, E and Davis, J and Demcenco, TI and Dergachev, V and Derin, Z and Deskaj, S and Devejyan, S and Djordjević, V and Duffett Carlson, KS and Eccles, LR and Elenski, N and Engin, A and Erdoğan, N and Erir-Pazarcı, S and Fernandes, DM and Ferry, M and Freilich, S and Frînculeasa, A and Galaty, ML and Gamarra, B and Gasparyan, B and Gaydarska, B and Genç, E and Gültekin, T and Gündüz, S and Hajdu, T and Heyd, V and Hobosyan, S and Hovhannisyan, N and Iliev, I and Iliev, L and Iliev, S and İvgin, İ and Janković, I and Jovanova, L and Karkanas, P and Kavaz-Kındığılı, B and Kaya, EH and Keating, D and Kennett, DJ and Deniz Kesici, S and Khudaverdyan, A and Kiss, K and Kılıç, S and Klostermann, P and Kostak Boca Negra Valdes, S and Kovačević, S and Krenz-Niedbała, M and Krznarić Škrivanko, M and Kurti, R and Kuzman, P and Lawson, AM and Lazar, C and Leshtakov, K and Levy, TE and Liritzis, I and Lorentz, KO and Łukasik, S and Mah, M and Mallick, S and Mandl, K and Martirosyan-Olshansky, K and Matthews, R and Matthews, W and McSweeney, K and Melikyan, V and Micco, A and Michel, M and Milašinović, L and Mittnik, A and Monge, JM and Nekhrizov, G and Nicholls, R and Nikitin, AG and Nikolov, V and Novak, M and Olalde, I and Oppenheimer, J and Osterholtz, A and Özdemir, C and Özdoğan, KT and Öztürk, N and Papadimitriou, N and Papakonstantinou, N and Papathanasiou, A and Paraman, L and Paskary, EG and Patterson, N and Petrakiev, I and Petrosyan, L and Petrova, V and Philippa-Touchais, A and Piliposyan, A and Pocuca Kuzman, N and Potrebica, H and Preda-Bălănică, B and Premužić, Z and Price, TD and Qiu, L and Radović, S and Raeuf Aziz, K and Rajić Šikanjić, P and Rasheed Raheem, K and Razumov, S and Richardson, A and Roodenberg, J and Ruka, R and Russeva, V and Şahin, M and Şarbak, A and Savaş, E and Schattke, C and Schepartz, L and Selçuk, T and Sevim-Erol, A and Shamoon-Pour, M and Shephard, HM and Sideris, A and Simalcsik, A and Simonyan, H and Sinika, V and Sirak, K and Sirbu, G and Šlaus, M and Soficaru, A and Söğüt, B and Sołtysiak, A and Sönmez-Sözer, Ç and Stathi, M and Steskal, M and Stewardson, K and Stocker, S and Suata-Alpaslan, F and Suvorov, A and Szécsényi-Nagy, A and Szeniczey, T and Telnov, N and Temov, S and Todorova, N and Tota, U and Touchais, G and Triantaphyllou, S and Türker, A and Ugarković, M and Valchev, T and Veljanovska, F and Videvski, Z and Virag, C and Wagner, A and Walsh, S and Włodarczak, P and Workman, JN and Yardumian, A and Yarovoy, E and Yavuz, AY and Yılmaz, H and Zalzala, F and Zettl, A and Zhang, Z and Çavuşoğlu, R and Rohland, N and Pinhasi, R and Reich, D and Davtyan, R},
title = {A genetic probe into the ancient and medieval history of Southern Europe and West Asia.},
journal = {Science (New York, N.Y.)},
volume = {377},
number = {6609},
pages = {940-951},
pmid = {36007020},
issn = {1095-9203},
support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG012287/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; },
mesh = {Archaeology ; Asia ; Europe ; Genetic Variation ; Greece ; History, Ancient ; History, Medieval ; *Human Migration/history ; Humans ; *Population/genetics ; },
abstract = {Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and included both people with some steppe ancestry and others, like the Griffin Warrior, without it. Similarly, people in the central area of the Urartian Kingdom around Lake Van lacked the steppe ancestry characteristic of the kingdom's northern provinces. Anatolia exhibited extraordinary continuity down to the Roman and Byzantine periods, with its people serving as the demographic core of much of the Roman Empire, including the city of Rome itself. During medieval times, migrations associated with Slavic and Turkic speakers profoundly affected the region.},
}

Archaeology
Asia
Europe
Genetic Variation
Greece
History, Ancient
History, Medieval
*Human Migration/history
Humans
*Population/genetics

@article {pmid34532947,
year = {2021},
author = {Puffenberger, EG},
title = {Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania.},
journal = {American journal of medical genetics. Part A},
volume = {185},
number = {11},
pages = {3322-3333},
doi = {10.1002/ajmg.a.62489},
pmid = {34532947},
issn = {1552-4833},
mesh = {Amish/genetics ; Founder Effect ; Genetic Diseases, Inborn/genetics/*history ; *Genetic Predisposition to Disease ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Pennsylvania/epidemiology ; Translational Science, Biomedical/trends ; },
abstract = {Founder populations have long contributed to our knowledge of rare disease genes and phenotypes. From the pioneering work of Dr. Victor McKusick to today, research in these groups has shed light on rare recessive phenotypes, expanded the clinical spectrum of disease, and facilitated disease gene identification. Current clinical and research studies in these special groups augment the wealth of knowledge already gained, provide new insights into emerging problems such as variant interpretation and reduced penetrance, and contribute to the development of novel therapies for rare genetic diseases. Clinical developments over the past 30 years have altered the fundamental relationship with the Lancaster Plain communities: research has become more collaborative, and the knowledge imparted by these studies is now being harnessed to provide cutting-edge translational medicine to the very community of vulnerable individuals who need it most.},
}

Amish/genetics
Founder Effect
Genetic Diseases, Inborn/genetics/*history
*Genetic Predisposition to Disease
Genetics, Medical/*history
History, 20th Century
History, 21st Century
Humans
Pennsylvania/epidemiology
Translational Science, Biomedical/trends

@article {pmid32532136,
year = {2020},
author = {Capelli, I and Aiello, V and Gasperoni, L and Comai, G and Corradetti, V and Ravaioli, M and Biagini, E and Graziano, C and La Manna, G},
title = {Kidney Transplant in Fabry Disease: A Revision of the Literature.},
journal = {Medicina (Kaunas, Lithuania)},
volume = {56},
number = {6},
pages = {},
pmid = {32532136},
issn = {1648-9144},
mesh = {Adult ; Fabry Disease/*complications/history/mortality ; Female ; History, 20th Century ; History, 21st Century ; Humans ; Kidney Transplantation/adverse effects/*history/*standards ; Male ; },
abstract = {Fabry disease is classified as a rare X-linked disease caused by a complete or partial defect of enzyme alpha-galactosidase, due to GLA gene mutations. This disorder leads to intracellular globotriaosylceramide (Gb3) deposition associated with increased Gb3 plasma levels. Most of the symptoms of the disease, involving kidneys, heart and nervous system, result from this progressive Gb3 deposition. The incidence is estimated in 1/50,000 to 1/117,000 in males. Fabry nephropathy begins with microalbuminuria and/or proteinuria, which, in the classic form, appear from childhood. Thus, a progressive decline of renal function can start at a young age, and evolve to kidney failure, requiring dialysis or renal transplantation. Enzyme replacement therapy (ERT), available since 2001 for Fabry disease, has been increasingly introduced into the clinical practice, with overall positive short-term and long-term effects in terms of ventricular hypertrophy and renal function. Kidney transplantation represents a relevant therapeutic option for Fabry nephropathy management, for patients reaching end-stage renal disease, but little is known about long-term outcomes, overall patient survival or the possible role of ERT after transplant. The purpose of this review is to analyze the literature on every aspect related to kidney transplantation in patients with Fabry nephropathy: from the analysis of transplant outcomes, to the likelihood of disease recurrence, up to the effects of ERT and its possible interference with immunosuppression.},
}

Adult
Fabry Disease/*complications/history/mortality
Female
History, 20th Century
History, 21st Century
Humans
Kidney Transplantation/adverse effects/*history/*standards
Male

@article {pmid24166811,
year = {2013},
author = {Neri, G and Marini, R and Cappa, M and Borrelli, P and Opitz, JM},
title = {Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.},
journal = {American journal of medical genetics. Part A},
volume = {161A},
number = {11},
pages = {2697-2703},
doi = {10.1002/ajmg.a.36317},
pmid = {24166811},
issn = {1552-4833},
mesh = {Arrhythmias, Cardiac/diagnosis/*history ; Genetic Diseases, X-Linked/diagnosis/*history ; Gigantism/diagnosis/*history ; Heart Defects, Congenital/diagnosis/*history ; History, 21st Century ; Humans ; Intellectual Disability/diagnosis/*history ; Male ; },
abstract = {The following paper by Professor GiovanniNeri and colleagues was originally published in 1988, American Journal of Medical Genetics 30:287–299. This paper represented a seminal work at the time of publication as it not only reported a new family with a disorder that had been called the “gigantism-dysplasia syndrome”, but also suggested naming the condition the Simpson-Golabi-Behmel syndrome. This eponym has clearly stood “the test of time”, and that designation is now widely accepted. This paper is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We report on another family with the so-called "gigantism-dysplasia syndrome", an X-linked condition characterized by pre-and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al. in 1975 and by Behmel et al. in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.},
}

Arrhythmias, Cardiac/diagnosis/*history
Genetic Diseases, X-Linked/diagnosis/*history
Gigantism/diagnosis/*history
Heart Defects, Congenital/diagnosis/*history
History, 21st Century
Humans
Intellectual Disability/diagnosis/*history
Male

@article {pmid9855494,
year = {1998},
author = {Zeviani, M and Moraes, CT and DiMauro, S and Nakase, H and Bonilla, E and Schon, EA and Rowland, LP},
title = {Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988.},
journal = {Neurology},
volume = {51},
number = {6},
pages = {1525 and 8 pages following},
doi = {10.1212/wnl.51.6.1525-a},
pmid = {9855494},
issn = {0028-3878},
mesh = {DNA, Mitochondrial/*genetics ; *Gene Deletion ; History, 20th Century ; Humans ; Kearns-Sayre Syndrome/*genetics ; Restriction Mapping ; },
}

DNA, Mitochondrial/*genetics
*Gene Deletion
History, 20th Century
Humans
Kearns-Sayre Syndrome/*genetics
Restriction Mapping

@article {pmid9853812,
year = {1998},
author = {Hammer, RE},
title = {Egg culture: the foundation.},
journal = {The International journal of developmental biology},
volume = {42},
number = {7},
pages = {833-839},
pmid = {9853812},
issn = {0214-6282},
mesh = {Animals ; Animals, Genetically Modified ; Culture Techniques/*history/methods ; *Embryonic and Fetal Development ; Fertilization in Vitro/*history/methods ; History, 20th Century ; Humans ; Ovum/*growth & development ; },
abstract = {Ralph Brinster began his classic work on egg culture more than 35 years ago. His interest in mammalian egg culture had developed, in part, as a consequence of his experiences with animal breeding and reproduction that he gained while growing up on a farm. Ralph decided early in his career that an in vitro approach to culturing eggs would provide a powerful tool with which to study the development of these cells. Beginning at the close of the 19th century, a number of investigators had performed in vitro studies on egg culture and the related area of egg transfer; however, the ability to recover and transplant eggs had reached a much higher level of perfection than had culture. Eggs of many species could be successfully transferred, but there was no reliable technique for egg culture. In 1963, Ralph reported a method for culturing eggs in microdrops of medium under oil (Brinster, 1963), which has become universally used. Two years later, he identified pyruvate as the central and essential energy source for early stages of mouse eggs (Brinster, 1965b). These two developments revolutionized in vitro studies of mammalian eggs and issued in an era of intense research activity concerning egg culture and egg manipulation. Effective formulations of culture media could now be developed to allow routine in vitro maintenance of eggs, and important parameters for these recipes were soon determined. It was quickly established that the requirement for pyruvate as an energy source exists at ovulation in many species and is already present in germ cells of the mouse fetus. The metabolic activity of the fertilized mouse egg was shown to be low and comparable to bone; however, four days later, at the blastocyst stage of development, the metabolic activity was comparable to brain. Thus, a foundation of understanding about the biology of early mammalian eggs was established between 1960 and 1970, and subsequent studies have broadened this understanding. However, the greatest impact of a simple, reliable egg culture method has been to provide the ability to perform complicated manipulative procedures on preimplantation stages of mammalian embryos. In no area has this been more important than in development of transgenic animals. All methods for generating germ line genetic modifications rely on the ability to maintain and manipulate eggs and early developmental stages in vitro without loss of developmental competence. The importance of efficient egg culture to manipulation and transgenesis is fundamental and enabling.},
}

Animals
Animals, Genetically Modified
Culture Techniques/*history/methods
*Embryonic and Fetal Development
Fertilization in Vitro/*history/methods
History, 20th Century
Humans
Ovum/*growth & development

@article {pmid9806453,
year = {1998},
author = {Gulcher, J and Stefansson, K},
title = {Population genomics: laying the groundwork for genetic disease modeling and targeting.},
journal = {Clinical chemistry and laboratory medicine},
volume = {36},
number = {8},
pages = {523-527},
doi = {10.1515/CCLM.1998.089},
pmid = {9806453},
issn = {1434-6621},
mesh = {Genealogy and Heraldry ; Genetic Diseases, Inborn/*genetics ; *Genetics, Population ; *Genome ; Humans ; Iceland ; },
abstract = {The family has proven the most appropriate unit with which to study Mendelian diseases. There are, however, certain limitations on the use of the family as a fundamental unit in the study of common diseases, most of which are complex genetic diseases. The groups that are most likely to yield the genetics of complex diseases are isolated populations with strong founder effects. Therefore, access to such populations is proving to be a precious resource in the work on the genetics of common diseases. The Icelandic population is an excellent population for the study of the genetics of common diseases; it is genetically homogeneous, with founder effects for many traits, and the genealogy of the entire nation is well documented back to the founding days. Furthermore, the nature of the Icelandic national health care system facilitates the assignment of phenotypes in the search for disease genes. Decode Genetics has begun to study of the genetics of 20 of the most common diseases in the Western parts of the world. The company has placed the groundwork for the construction of an encrypted database with information on the health care of the entire nation, genealogy of the entire nation, genotyping information with high density of markers on a large part of the nation (including typing for known disease genes), and resource use in the Icelandic health care system. The plan is to build the database with approval of participating individuals as well as Icelandic government and health care officials. The database will be used to model health care as viewed in the context of genetic predisposition to the development of disease. The database will also be used in the search for drug targets in complex diseases and in the solution of pharmacogenomic problems. Basing the company in Iceland directly benefits the population in terms of employment and return on investment as well as providing the health care system with an information resource which may be used in preventive medicine and in the optimization of health care in Iceland.},
}

Genealogy and Heraldry
Genetic Diseases, Inborn/*genetics
*Genetics, Population
*Genome
Humans
Iceland

@article {pmid9769919,
year = {1998},
author = {Cavalli-Sforza, L},
title = {[Man and the diversity of his genome. An extraordinary phase in the history of population genetics].},
journal = {Pathologie-biologie},
volume = {46},
number = {2},
pages = {98-102},
pmid = {9769919},
issn = {0369-8114},
mesh = {Africa ; Europe ; *Genetic Variation ; Genetics, Population/*history ; *Genome, Human ; History, 20th Century ; Humans ; },
abstract = {Population genetics is almost eighty years old, but benefited only very recently from the advantages of direct DNA analysis. Nevertheless, much knowledge had already accumulated and was completely confirmed by the study of DNA markers. Major benefits of the latter came with microsatellites. It allowed to discover an error made with classical markers but even more seriously with RFLPs, because of the practically involuntary sampling of individuals almost exclusively of European origin for the detection of polymorphisms. Among other evolutionary application of microsatellites, the most attractive is their very recent use for dating population separations during the recent migration out of Africa of modern humans. They confirm the theory that this expansion was quite recent. Single nucleotide substitutions are the major material of evolution, and so far markers of this kind were rare. A new method, DHPLC, is excellent for their detection and testing. In humans it has been applied almost exclusively to the Y chromosome, and in a year it has given a completely new picture of Y chromosome genetics. Some applications of statistical methods to genetic geography of classical markers and ADN markers will show the power of the geographical approach, and therefore the need of a wide collection of population samples, as will be made possible by the HGDP (Human Genome Diversity Project).},
}

Africa
Europe
*Genetic Variation
Genetics, Population/*history
*Genome, Human
History, 20th Century
Humans

@article {pmid9709997,
year = {1998},
author = {Moser, HW and Moser, AB and Frayer, KK and Chen, W and Schulman, JD and O'Neill, BP and Kishimoto, Y},
title = {Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. 1981.},
journal = {Neurology},
volume = {51},
number = {2},
pages = {334 and 9 pages following},
doi = {10.1212/wnl.51.2.334-a},
pmid = {9709997},
issn = {0028-3878},
mesh = {Adolescent ; Adrenoleukodystrophy/blood/genetics/*history ; Fatty Acids/blood/*history ; Female ; Heterozygote ; History, 20th Century ; Humans ; Lipids/blood/history ; Male ; },
}

Adolescent
Adrenoleukodystrophy/blood/genetics/*history
Fatty Acids/blood/*history
Female
Heterozygote
History, 20th Century
Humans
Lipids/blood/history
Male

@article {pmid9709996,
year = {1998},
author = {Austin, JH},
title = {Metachromatic form of diffuse cerebral sclerosis: I. Diagnosis during life by urine sediment examination. 1957.},
journal = {Neurology},
volume = {51},
number = {2},
pages = {333 and 12 pages following},
doi = {10.1212/wnl.51.2.333-a},
pmid = {9709996},
issn = {0028-3878},
mesh = {Coloring Agents ; Electrochemistry ; History, 20th Century ; Humans ; Leukodystrophy, Metachromatic/diagnosis/genetics/urine ; Male ; Solubility ; Staining and Labeling ; },
}

Coloring Agents
Electrochemistry
History, 20th Century
Humans
Leukodystrophy, Metachromatic/diagnosis/genetics/urine
Male
Solubility
Staining and Labeling

@article {pmid9688189,
year = {1998},
author = {Dehner, LP},
title = {The evolution of the diagnosis and understanding of primitive and embryonic neoplasms in children: living through an epoch.},
journal = {Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc},
volume = {11},
number = {7},
pages = {669-685},
pmid = {9688189},
issn = {0893-3952},
mesh = {Child ; Forecasting ; History, 19th Century ; History, 20th Century ; Humans ; Medical Oncology/history ; Molecular Biology ; Neoplasms, Complex and Mixed/epidemiology/*history/pathology/therapy ; Neoplasms, Germ Cell and Embryonal/epidemiology/*history/pathology/therapy ; Sarcoma/history/pathology ; },
abstract = {Approximately 30% of malignant neoplasms in children are dysontogenetic tumors whose pathologic features resemble or recapitulate those of the developing organ or tissue of origin. Archetypes include classic neuroblastoma, Wilms' tumor, and embryonal rhabdomyosarcoma. This review traces the history of the principal types of dysontogenetic neoplasms and the primitive round cell tumors, Ewing's sarcoma, and peripheral primitive neuroectodermal tumor. Retinoblastoma, neuroblastoma, and Wilms' tumor were first described in the 19th century but with several different appellations than those we use today. Although some progress was made in the surgical management of Wilms' tumor during the 1940s and 1950s, most of these unique solid neoplasms of childhood were seen as essentially untreatable and inevitably fatal; surgery and perhaps irradiation were the principal therapeutic offerings. The folic acid analogue, aminopterin, was reported in 1948 as inducing the first complete but temporary remission in acute childhood leukemia. The chemotherapeutic era began shortly thereafter with effective chemotherapy in the management of Wilms' tumor with the introduction of dactinomycin. Pathologists were no longer restricted to being purveyors of the death sentence; they were now responsible for differentiating one type of primitive and embryonic neoplasm from another by using a variety of ancillary techniques, including tissue culture, electron microscopy, immunohistochemistry, and cytogenetics. Favorable or unfavorable morphologic types and subtypes of tumors were defined and, together with the pathologic staging, became incorporated into the therapeutic plan and prognostic assessment. During the past 40 years, these tumors progressed from being virtually treatment resistant to having an overall 5-year survival of 70% or greater. Through the cooperative efforts of pediatric hematologists/oncologists, pediatric surgeons, radiation therapists, and pathologists, the primitive and embryonic neoplasms of childhood are now viewed as some of the most treatable and curable of cancers.},
}

Child
Forecasting
History, 19th Century
History, 20th Century
Humans
Medical Oncology/history
Molecular Biology
Neoplasms, Complex and Mixed/epidemiology/*history/pathology/therapy
Neoplasms, Germ Cell and Embryonal/epidemiology/*history/pathology/therapy
Sarcoma/history/pathology

@article {pmid9521237,
year = {1998},
author = {Kennedy, WR and Alter, M and Sung, JH},
title = {Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait.},
journal = {Neurology},
volume = {50},
number = {3},
pages = {583 and 10 pages following},
doi = {10.1212/wnl.50.3.583},
pmid = {9521237},
issn = {0028-3878},
support = {R42 NS071979/NS/NINDS NIH HHS/United States ; },
mesh = {Age of Onset ; Genes, Recessive ; Genetic Linkage ; History, 20th Century ; Humans ; Male ; Muscular Atrophy, Spinal/genetics/*history ; Pedigree ; X Chromosome ; },
}

Age of Onset
Genes, Recessive
Genetic Linkage
History, 20th Century
Humans
Male
Muscular Atrophy, Spinal/genetics/*history
Pedigree
X Chromosome

@article {pmid9259363,
year = {1997},
author = {Valtin, H and Schroeder, HA},
title = {Familial hypothalamic diabetes insipidus in rats (Brattleboro strain). 1964.},
journal = {Journal of the American Society of Nephrology : JASN},
volume = {8},
number = {8},
pages = {1333-1341},
doi = {10.1681/ASN.V881333},
pmid = {9259363},
issn = {1046-6673},
support = {H-5076//PHS HHS/United States ; HE-06181//PHS HHS/United States ; },
mesh = {Animals ; Diabetes Insipidus/genetics/*history/physiopathology ; Diuresis ; Female ; History, 20th Century ; Hypothalamic Diseases/genetics/history/physiopathology ; Male ; Rats ; Rats, Brattleboro ; Vasopressins/physiology ; },
}

Animals
Diabetes Insipidus/genetics/*history/physiopathology
Diuresis
Female
History, 20th Century
Hypothalamic Diseases/genetics/history/physiopathology
Male
Rats
Rats, Brattleboro
Vasopressins/physiology

@article {pmid9209755,
year = {1997},
author = {Thompson, E},
title = {Symbol grounding: a bridge from artificial life, to artificial intelligence.},
journal = {Brain and cognition},
volume = {34},
number = {1},
pages = {48-71},
doi = {10.1006/brcg.1997.0906},
pmid = {9209755},
issn = {0278-2626},
mesh = {Animals ; *Artificial Intelligence ; Computational Biology ; DNA/genetics ; Humans ; Mental Processes/physiology ; Neural Networks, Computer ; Philosophy ; Semantics ; Symbolism ; Trinucleotide Repeats/genetics ; },
abstract = {This paper develops a bridge from AL issues about the symbol-matter relation to AI issues about symbol-grounding by focusing on the concepts of formality and syntactic interpretability. Using the DNA triplet-amino acid specification relation as a paradigm, it is argued that syntactic properties can be grounded as high-level features of the non-syntactic interactions in a physical dynamical system. This argument provides the basis for a rebuttal of John Searle's recent assertion that syntax is observer-relative (1990, 1992). But the argument as developed also challenges the classic symbol-processing theory of mind against which Searle is arguing, as well as the strong AL thesis that life is realizable in a purely computational medium. Finally, it provides a new line of support for the autonomous systems approach in AL and AI (Varela & Bourgine 1992a, 1992b).},
}

Animals
*Artificial Intelligence
Computational Biology
DNA/genetics
Humans
Mental Processes/physiology
Neural Networks, Computer
Philosophy
Semantics
Symbolism
Trinucleotide Repeats/genetics

@article {pmid9140400,
year = {1997},
author = {Bowers, JE and Meredith, CP},
title = {The parentage of a classic wine grape, Cabernet Sauvignon.},
journal = {Nature genetics},
volume = {16},
number = {1},
pages = {84-87},
doi = {10.1038/ng0597-84},
pmid = {9140400},
issn = {1061-4036},
mesh = {Alleles ; *Crosses, Genetic ; France ; Fruit/classification/*genetics ; Gene Frequency ; Genetic Linkage ; History, 17th Century ; History, 18th Century ; Likelihood Functions ; Microsatellite Repeats/*genetics ; Polymorphism, Restriction Fragment Length ; *Wine/history ; },
abstract = {The world's great wines are produced from a relatively small number of classic European cultivars of Vitis vinifera L Most are thought to be centuries old and their origins have long been the subject of speculation. Among the most prominent of these cultivars is Cabernet Sauvignon, described as "the world's most renowned grape variety for the production of fine red wine". Although now grown in many countries, Cabernet Sauvignon derives its fame from its long association with the Bordeaux region of France, where it has been grown at least since the 17th century. We present microsatellite DNA evidence for the hypothesis that Cabernet Sauvignon is the progeny of two other Bordeaux cultivars, Cabernet franc and Sauvignon blanc. Likelihood ratios support this hypothesis to a very high degree of probability. A close relationship between Cabernet Sauvignon and Cabernet franc has been suspected but the genetic contribution of Sauvignon blanc, despite its similar name, is a surprise.},
}

Alleles
*Crosses, Genetic
France
Fruit/classification/*genetics
Gene Frequency
Genetic Linkage
History, 17th Century
History, 18th Century
Likelihood Functions
Microsatellite Repeats/*genetics
Polymorphism, Restriction Fragment Length
*Wine/history

@article {pmid9224941,
year = {1997},
author = {Melnick, M},
title = {Cleft lip and palate etiology and its meaning in early 20th century England: Galton/Pearson vs. Bateson; polygenically poor protoplasm vs. Mendelism.},
journal = {Journal of craniofacial genetics and developmental biology},
volume = {17},
number = {2},
pages = {65-79},
pmid = {9224941},
issn = {0270-4145},
mesh = {Cleft Lip/genetics/*history ; Cleft Palate/genetics/*history ; England ; Eugenics/history ; Female ; Genetics, Medical/history ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Male ; Models, Genetic ; Pedigree ; },
abstract = {At the outset of the 20th century in England there arose a venomous dispute between Mendelian geneticists such as Bateson and anti-Mendelian biometricians such as Pearson over the genetic etiology of such "physical deformities" as cleft lip and palate. To Pearson et al., such traits were an expression of physical and racial degeneracy which could be traced to polygenically poor protoplasm. To Bateson et al., such traits were Mendelian unit characters whose segregation could be seen in carefully constructed family pedigrees. Bateson dismissed the work of the anti-Mendelians as "unsound in construction" and predicted such thinking would inevitably lead to "brutal" control of those the larger society deemed unfit. History proved Bateson astutely prescient.},
}

Cleft Lip/genetics/*history
Cleft Palate/genetics/*history
England
Eugenics/history
Female
Genetics, Medical/history
History, 18th Century
History, 19th Century
History, 20th Century
Humans
Male
Models, Genetic
Pedigree

@article {pmid9137624,
year = {1997},
author = {Gould, SE and Grainger, RM},
title = {Neural induction and antero-posterior patterning in the amphibian embryo: past, present and future.},
journal = {Cellular and molecular life sciences : CMLS},
volume = {53},
number = {4},
pages = {319-338},
doi = {10.1007/pl00000609},
pmid = {9137624},
issn = {1420-682X},
mesh = {Amphibians/*embryology ; Animals ; Body Patterning ; Drosophila/embryology ; Ectoderm/physiology ; Embryology/*history ; Embryonic Induction ; History, 20th Century ; Intercellular Signaling Peptides and Proteins ; Mesoderm/physiology ; Models, Biological ; Nervous System/*embryology ; Proteins/physiology ; Xenopus Proteins ; },
abstract = {Neural induction and patterning in competent ectoderm occurs during gastrula and early neurula stages in response to signals from dorsal mesoderm. The earliest views of antero-posterior (A-P) patterning were modified beginning in the 1930s, as complexities concerning the timing of the pattern-forming process and potential sources of the patterning signals were revealed. In the 1950s and 1960s several different models for A-P patterning were proposed, all of which, however, bear a number of similarities, including a two-component system for generating A-P axial information in the embryo. Early attempts to identify neural-inducing molecules were largely unsuccessful due to technical limitations in biochemical analyses and concerns about assaying neural responses. The advent of modern molecular genetic technology has permitted more precise tests of a number of classic observations about the timing of A-P patterning and the sources of patterning signals. While some early observations have been confirmed, a number of new concepts have emerged in recent years, particularly concerning the source of patterning signals in the embryo. Striking progress has been made in identifying putative neural-inducing molecules, and recent experiments have begun to suggest how these might contribute to A-P patterning. While the successes in recent years have been revealing, many of the classic issues concerning neural induction and patterning remain essentially as they were when first defined many decades ago. The power of modern molecular genetics, however, should permit many of these issues to be significantly clarified in the decades to come.},
}

Amphibians/*embryology
Animals
Body Patterning
Drosophila/embryology
Ectoderm/physiology
Embryology/*history
Embryonic Induction
History, 20th Century
Intercellular Signaling Peptides and Proteins
Mesoderm/physiology
Models, Biological
Nervous System/*embryology
Proteins/physiology
Xenopus Proteins

@article {pmid9463076,
year = {1997},
author = {Allen, GE},
title = {The social and economic origins of genetic determinism: a case history of the American Eugenics Movement, 1900-1940 and its lessons for today.},
journal = {Genetica},
volume = {99},
number = {2-3},
pages = {77-88},
doi = {10.1007/BF02259511},
pmid = {9463076},
issn = {0016-6707},
mesh = {Eugenics/*history ; Female ; Genetic Diseases, Inborn/economics/genetics ; Genetics, Behavioral/history ; Germany ; History, 20th Century ; Human Genome Project ; Humans ; Male ; Politics ; Social Conditions ; United Kingdom ; United States ; },
abstract = {Eugenics, the attempt to improve the genetic quality of the human species by 'better breeding', developed as a worldwide movement between 1900 and 1940. It was particularly prominent in the United States, Britain and Germany, and in those countries was based on the then-new science of Mendelian genetics. Eugenicists developed research programs to determine the degree in which traits such as Huntington's chorea, blindness, deafness, mental retardation (feeblemindedness), intelligence, alcoholism, schizophrenia, manic depression, rebelliousness, nomadism, prostitution and feeble inhibition were genetically determined. Eugenicists were also active in the political arena, lobbying in the United States for immigration restriction and compulsory sterilization laws for those deemed genetically unfit; in Britain they lobbied for incarceration of genetically unfit and in Germany for sterilization and eventually euthanasia. In all these countries one of the major arguments was that of efficiency: that it was inefficient to allow genetic defects to be multiplied and then have to try and deal with the consequences of state care for the offspring. National socialists called genetically defective individuals 'useless eaters' and argued for sterilization or euthanasia on economic grounds. Similar arguments appeared in the United States and Britain as well. At the present time (1997) much research and publicity is being given to claims about a genetic basis for all the same behaviors (alcoholism, manic depression, etc.), again in an economic context--care for people with such diseases is costing too much. There is an important lesson to learn from the past: genetic arguments are put forward to mask the true--social and economic--causes of human behavioral defects.},
}

Eugenics/*history
Female
Genetic Diseases, Inborn/economics/genetics
Genetics, Behavioral/history
Germany
History, 20th Century
Human Genome Project
Humans
Male
Politics
Social Conditions
United Kingdom
United States

@article {pmid9336074,
year = {1997},
author = {Cabello, F and Springer, AD},
title = {[Emergent diseases: old and new diseases. Etiological and climatic aspects. Socioeconomic and cultural influences].},
journal = {Revista medica de Chile},
volume = {125},
number = {1},
pages = {74-84},
pmid = {9336074},
issn = {0034-9887},
mesh = {Chile/epidemiology ; Communicable Diseases/*epidemiology/history ; Cultural Characteristics ; Epidemiologic Factors ; History, 20th Century ; Meteorological Concepts ; Prevalence ; Socioeconomic Factors ; },
abstract = {During recent years the world has experienced the reemergence of old communicable diseases and the emergence of new ones caused by novel pathogens such as the HIV virus and Borrelia burgdorferi. The problem consists mostly in the reemergence of old diseases but specially in industrialized countries new pathogens have also been described. Although the emergence of these infections in rare instances is due to genetic changes of pathogens to more virulent forms, most commonly they are due to changes in the environment and the host. Rapidly deteriorating living standards, disintegration of sanitation and public health infrastructure, cultural changes, migration and variations in behavior are some of the factors involved in the worldwide increase of infectious diseases. The degradation of natural habitats including forests and marine niches accompanied by climatic changes, are also playing an increasing role in the detrimental evolution of these diseases. The global emergence of these diseases calls into question the doctrine of epidemiological transition and directs us to scrutinize the paradigm that bases the prevention of these diseases solely on vaccination. The current situation also highlights the limitations of classical epidemiology in dealing with unexpected problems, and strongly suggests that this discipline should incorporate into its analysis findings from other fields, including ecological, climatological, and economical information. As most of the negative social and economical developments that impinge on the detrimental evolution of these diseases are increasing world-wide, it can be predicted that the problems posed by these infections will continue and perhaps worsen in the near future.},
}

Chile/epidemiology
Communicable Diseases/*epidemiology/history
Cultural Characteristics
Epidemiologic Factors
History, 20th Century
Meteorological Concepts
Prevalence
Socioeconomic Factors

@article {pmid9008732,
year = {1996},
author = {Luchnik, NV},
title = {[The chromosome cycle of DNA. 1971].},
journal = {Radiatsionnaia biologiia, radioecologiia},
volume = {36},
number = {6},
pages = {774-779},
pmid = {9008732},
issn = {0869-8031},
mesh = {Animals ; Cell Cycle/genetics/radiation effects ; Chromosome Aberrations/genetics ; Chromosomes/genetics/*radiation effects ; DNA/genetics/*history ; History, 20th Century ; Translations ; },
abstract = {A hypothesis on the behaviour of DNA molecules during the cell cycle has been put forward using information on the regularities observed in the formation of chromosome aberrations while irradiating different stages of the cell cycle. The relevant statements of the hypothesis are as follows. 1) The cell cycle involves two stages of intermolecular proofs. The first proof occurs before DNA synthesis, the second one before mitosis. 2) The probable mechanism of the proofs is connected with the formation of hybrid DNA molecules. 3) In the case of multistrandedness, the second proof follows a relay-race principle.},
}

Animals
Cell Cycle/genetics/radiation effects
Chromosome Aberrations/genetics
Chromosomes/genetics/*radiation effects
DNA/genetics/*history
History, 20th Century
Translations

@article {pmid8837700,
year = {1996},
author = {Kendler, KS and Zerbin-Rüdin, E},
title = {Abstract and review of "Zur Erbpathologie der Schizophrenie" (Contribution to the genetics of schizophrenia). 1916.},
journal = {American journal of medical genetics},
volume = {67},
number = {4},
pages = {343-346},
doi = {10.1002/(SICI)1096-8628(19960726)67:4<343::AID-AJMG5>3.0.CO;2-N},
pmid = {8837700},
issn = {0148-7299},
support = {MH-41953/MH/NIMH NIH HHS/United States ; },
mesh = {Female ; History, 20th Century ; Humans ; Male ; Morbidity ; Nuclear Family ; Risk Factors ; Schizophrenia/diagnosis/epidemiology/*genetics ; },
abstract = {Starting from the 722 probands originally studied by Rüdin, Bruno Schulz re-examined them and their relatives confirming the diagnosis in 660. While Rüdin sought for mendelian ratios in siblings, Schulz, anticipating modern methods, focused on the family study method as an approach to clarifying possible etiologic heterogeneity within the schizophrenia syndrome. Using a Kraepelian approach to diagnosis, Schulz reports a MR for narrowly and broadly defined schizophrenia of 6.7 and 8.2% in siblings and 2.6 and 3.7% in parents. He found no evidence for a difference in risk of illness in siblings as a function of either the gender or outcome of the proband. The risk for schizophrenia was significantly increased in siblings of hebephrenic probands. Compared to siblings of probands with no identified factor which precipitated their schizophrenia, the risk for schizophrenia was significantly decreased in probands with a physical etiologic factor but did not differ in siblings of probands with a psychological etiologic factor. The risk for schizophrenia was particularly low in siblings of probands whose onset of illness occurred within a year of major head trauma.},
}

Female
History, 20th Century
Humans
Male
Morbidity
Nuclear Family
Risk Factors
Schizophrenia/diagnosis/epidemiology/*genetics

@article {pmid8837699,
year = {1996},
author = {Kendler, KS and Zerbin-Rüdin, E},
title = {Abstract and review of "Studien Uber Vererbung und Entstehung Geistiger Störungen. I. Zur Vererbung und Neuentstehung der Dementia praecox." (Studies on the inheritance and origin of mental illness: I. To the problem of the inheritance and primary origin of dementia praecox). 1916.},
journal = {American journal of medical genetics},
volume = {67},
number = {4},
pages = {338-342},
doi = {10.1002/(SICI)1096-8628(19960726)67:4<338::AID-AJMG4>3.0.CO;2-I},
pmid = {8837699},
issn = {0148-7299},
support = {MH-41953/MH/NIMH NIH HHS/United States ; },
mesh = {Female ; History, 20th Century ; Humans ; Male ; Morbidity ; Nuclear Family ; Risk Factors ; Schizophrenia/epidemiology/*genetics ; },
abstract = {The first major family study of schizophrenia, reported by Ernst Rüdin in 1916, examined 2,732 siblings of 755 probands, diagnosed according to the teachings of Kraepelin. This study, the goal of which was to see whether the segregation pattern of schizophrenia in siblings conformed to simple mendelian expectations, was the first in psychiatry to use systematic ascertainment, proband correction and calculation of an age corrected risk of illness--the morbid risk (MR). The MR for narrowly and broadly defined schizophrenia in this sample can be calculated to equal 5.4 and 7.7%. "Other psychoses"--a heterogeneous category--were also common in these siblings (a MR of 5.1%). In a small sample of half-siblings, the MR for narrowly defined schizophrenia was quite low (0.6%). The risk for schizophrenia in siblings was significantly increased by a parental diagnosis of alcoholism, a history of schizophrenia in second or third degree relatives, and, particularly, by a parental diagnosis of "other psychoses." No evidence was found for sex-specific transmission of schizophrenia in these sibships. The MR for narrowly and broadly definite schizophrenia in parents of these probands can be estimated to be 2.3% and 3.9%, respectively. In accord with more recent studies, Rüdin found i) a familial relationship between schizophrenia and other psychoses ii) a substantially lower risk for schizophrenia in parents vs. siblings and iii) a segregation pattern of schizophrenia in siblings that did not conform to that expected for a simple mendelian disorder.},
}

Female
History, 20th Century
Humans
Male
Morbidity
Nuclear Family
Risk Factors
Schizophrenia/epidemiology/*genetics

@article {pmid8653976,
year = {1996},
author = {Otto, JC},
title = {An account of an hemorrhagic disposition existing in certain families.},
journal = {Clinical orthopaedics and related research},
volume = {},
number = {328},
pages = {4-6},
doi = {10.1097/00003086-199607000-00002},
pmid = {8653976},
issn = {0009-921X},
mesh = {Hemophilia A/genetics/*history ; History, 19th Century ; },
}

Hemophilia A/genetics/*history
History, 19th Century

@article {pmid8784780,
year = {1996},
author = {Garrod, AE},
title = {The incidence of alkaptonuria: a study in chemical individuality. 1902.},
journal = {Molecular medicine (Cambridge, Mass.)},
volume = {2},
number = {3},
pages = {274-282},
pmid = {8784780},
issn = {1076-1551},
mesh = {Alkaptonuria/epidemiology/*genetics/*history ; Female ; History, 20th Century ; Humans ; Male ; },
}

Alkaptonuria/epidemiology/*genetics/*history
Female
History, 20th Century
Humans
Male

@article {pmid8690571,
year = {1996},
author = {Kathren, RL},
title = {Pathway to a paradigm: the linear nonthreshold dose-response model in historical context. The American Academy of Health Physics 1995 Radiology Centennial Hartman Oration.},
journal = {Health physics},
volume = {70},
number = {5},
pages = {621-635},
doi = {10.1097/00004032-199605000-00002},
pmid = {8690571},
issn = {0017-9078},
mesh = {Dose-Response Relationship, Radiation ; Health Physics/history ; History, 19th Century ; History, 20th Century ; Radiation Dosage ; Radiation Protection/*history ; Radiology/*history ; },
abstract = {This paper traces the evolution of the linear nonthreshold dose-response model and its acceptance as a paradigm in radiation protection practice and risk analysis. Deterministic effects such as skin burns and even deep tissue trauma were associated with excessive exposure to x rays shortly after their discovery, and carcinogenicity was observed as early as 1902. Still, it was not until 1925 that the first protective limits were suggested. For three decades these limits were based on the concept of a tolerance dose which, if not exceeded, would result in no demonstrable harm to the individual and implicitly assumed a threshold dose below which radiation effects would be absent. After World War II, largely because of genetic concerns related to atmospheric weapons testing, radiation protection dose limits were expressed in terms of a risk based maximum permissible dose which clearly implied no threshold. The 1927 discovery by Muller of x-ray induced genetic mutations in fruit flies, linear with dose and with no apparent threshold, was an important underpinning of the standards. The linear nonthreshold dose-response model was originally used to provide an upper limit estimate of the risk, with zero being the lower limit, of low level irradiation since the dose-response curve could not be determined at low dose levels. Evidence to the contrary such as hormesis and the classic studies of the radium dial painters notwithstanding, the linear nonthreshold model gained greater acceptance and in the centennial year of the discovery of x rays stands as a paradigm although serious questions are beginning to be raised regarding its general applicability. The work includes a brief digression describing the work of x-ray protection pioneer William Rollins and concludes with a recommendation for application of a de minimis dose level in radiation protection.},
}

Dose-Response Relationship, Radiation
Health Physics/history
History, 19th Century
History, 20th Century
Radiation Dosage
Radiation Protection/*history
Radiology/*history

@article {pmid9136281,
year = {1996},
author = {Wailoo, K},
title = {Genetic marker of segregation: sickle cell anemia, thalassemia, and racial ideology in American medical writing 1920-1950.},
journal = {History and philosophy of the life sciences},
volume = {18},
number = {3},
pages = {305-320},
pmid = {9136281},
issn = {0391-9714},
mesh = {Black or African American/history ; Anemia, Sickle Cell/genetics/*history ; Black People/genetics/*history ; Female ; History, 20th Century ; Humans ; Male ; *Prejudice ; Race Relations/*history ; Thalassemia/genetics/*history ; United States ; },
abstract = {This paper focuses on sickle cell anemia and thalassemia as case studies of genetic disease in America. Before the 1950s, these diseases were perceived by many physicians as closely related (indeed, by some as indistinguishable). Sickle cell anemia was defined by most American physicians as a Mendelian dominant disorder specific to African-Americans. As such, it could be 'spread' by any individual parent 'carrier' through reproduction. This view of the disease fed into (and was supported by) prevalent social concerns about miscegenation and, more generally, the dangers inherent in 'negro blood'. A particularly thorny problem for American physicians was how to explain cases of 'sickle cell anemia in white patients'. The paper examines how views about race, blood, and Mendelian genetics informed broader debates about the nature of hereditary disease and social relations in America from 1910 to 1950.},
}

Black or African American/history
Anemia, Sickle Cell/genetics/*history
Black People/genetics/*history
Female
History, 20th Century
Humans
Male
*Prejudice
Race Relations/*history
Thalassemia/genetics/*history
United States

@article {pmid8940903,
year = {1996},
author = {Fujimura, JH},
title = {Standardizing practices: a socio-history of experimental systems in classical genetic and virological cancer research, ca. 1920-1978.},
journal = {History and philosophy of the life sciences},
volume = {18},
number = {1},
pages = {3-54},
pmid = {8940903},
issn = {0391-9714},
mesh = {Animals ; Clinical Protocols ; Disease Models, Animal ; History, 20th Century ; Humans ; Mice ; Molecular Biology/*history ; Neoplasms/etiology/*history ; Proto-Oncogene Mas ; Proto-Oncogenes ; *Research Design ; United States ; Virology/*history ; },
abstract = {This paper presents a narrative history of technologies in cancer research circa 1920-1978 and a theoretical perspective on the complex, intertwined relationships between scientific problems, material practices and technologies, concepts and theories, and other historical circumstances. The history presents several active lines of research and technology development in the genetics of cancer in the United States which were constitutive of proto-oncogene work in its current form. I write this history from the perspective of technology development. Scientists participating in cancer research created tools with which to study their problems of interest, but the development of the tools also influenced the questions asked and answered in the form of concepts and theories developed. These tools included genetic ideas of the 1920s, inbred mouse colonies, chemicals and antibiotics developed during World War Two, tissue cultures and their technical procedures, and viruses. I examine these tools as standardized experimental systems that standardized materials as well as practices in laboratories. Inbred animals, tissue culture materials and methods, and tumor viruses as experimental systems gave materiality to "genes' and "cancer'. They are technical-natural objects that stand-in for nature in the laboratory.},
}

Animals
Clinical Protocols
Disease Models, Animal
History, 20th Century
Humans
Mice
Molecular Biology/*history
Neoplasms/etiology/*history
Proto-Oncogene Mas
Proto-Oncogenes
*Research Design
United States
Virology/*history

@article {pmid8787945,
year = {1996},
author = {Zucker, TF and Zucker, LM},
title = {Fat accretion and growth in the rat.},
journal = {Obesity research},
volume = {4},
number = {1},
pages = {102-108},
doi = {10.1002/j.1550-8528.1996.tb00520.x},
pmid = {8787945},
issn = {1071-7323},
support = {A-4085//PHS HHS/United States ; C-4241//PHS HHS/United States ; },
mesh = {*Adipose Tissue ; Animals ; Body Composition ; Breeding ; History, 20th Century ; Male ; Mutation ; Obesity/*genetics ; Rats ; *Weight Gain ; },
}

*Adipose Tissue
Animals
Body Composition
Breeding
History, 20th Century
Male
Mutation
Obesity/*genetics
Rats
*Weight Gain

@article {pmid8787944,
year = {1996},
author = {Ingalls, AM and Dickie, MM and Snell, GD},
title = {Obese, a new mutation in the house mouse.},
journal = {Obesity research},
volume = {4},
number = {1},
pages = {101},
doi = {10.1002/j.1550-8528.1996.tb00519.x},
pmid = {8787944},
issn = {1071-7323},
mesh = {Animals ; History, 20th Century ; Mice ; Mice, Obese/*genetics ; Obesity/*genetics ; },
}

Animals
History, 20th Century
Mice
Mice, Obese/*genetics
Obesity/*genetics

@article {pmid8787943,
year = {1996},
author = {Danforth, CH},
title = {Hereditary adiposity in mice.},
journal = {Obesity research},
volume = {4},
number = {1},
pages = {96-100},
doi = {10.1002/j.1550-8528.1996.tb00518.x},
pmid = {8787943},
issn = {1071-7323},
mesh = {Adipose Tissue ; Albinism/genetics ; Animals ; Body Composition ; Hair Color/genetics ; History, 20th Century ; Mice ; Mice, Obese/*genetics ; Obesity/*genetics ; },
}

Adipose Tissue
Albinism/genetics
Animals
Body Composition
Hair Color/genetics
History, 20th Century
Mice
Mice, Obese/*genetics
Obesity/*genetics

@article {pmid8553034,
year = {1995},
author = {Mathis, M},
title = {[Scientific raisins from 125 years SMW (Swiss Medical Weekly). Familial colon carcinoma. A pedigree from canton Aargau. 1926].},
journal = {Schweizerische medizinische Wochenschrift},
volume = {125},
number = {50},
pages = {2449-2454},
pmid = {8553034},
issn = {0036-7672},
mesh = {Adenomatous Polyposis Coli/genetics/*history ; History, 20th Century ; Humans ; Pedigree ; },
}

Adenomatous Polyposis Coli/genetics/*history
History, 20th Century
Humans
Pedigree

@article {pmid8538298,
year = {1995},
author = {Häggblom, L and Sanner, G},
title = {[Joint hypermobility, skin hyper-elasticity, connective tissue fragility: classical symptoms of Ehlers-Danlos syndrome].},
journal = {Lakartidningen},
volume = {92},
number = {50},
pages = {4809-4813},
pmid = {8538298},
issn = {0023-7205},
mesh = {Denmark ; Dermatology/*history ; Ehlers-Danlos Syndrome/diagnosis/genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Paris ; Pedigree ; },
}

Denmark
Dermatology/*history
Ehlers-Danlos Syndrome/diagnosis/genetics/*history
History, 19th Century
History, 20th Century
Humans
Paris
Pedigree

@article {pmid8539738,
year = {1995},
author = {Wolland, AM and Lindback, T},
title = {[Cornelia de Lange syndrome and the woman behind the syndrome].},
journal = {Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke},
volume = {115},
number = {30},
pages = {3724-3726},
pmid = {8539738},
issn = {0029-2001},
mesh = {Child ; Child, Preschool ; De Lange Syndrome/diagnosis/genetics/*history ; Female ; History, 19th Century ; History, 20th Century ; Humans ; Infant ; Infant, Newborn ; Male ; Netherlands ; Pediatrics/history ; Syndrome ; },
abstract = {The phrase syndrome indicates that certain symptoms and signs run together as a clinical entity. Collectively they characterize a particular disease or abnormal condition. Some syndromes are rare, but it is important to recognize them. Correct and early diagnosis is important for the individuals concerned, and for their families. Cornelia de Lange syndrome in its classical form is a syndrome of several congenital abnormalities and mental retardation. When not fully developed the syndrome may cause diagnostic problems. The authors discuss some biographical data about Cornelia de Lange and some matters concerning the syndrome.},
}

Child
Child, Preschool
De Lange Syndrome/diagnosis/genetics/*history
Female
History, 19th Century
History, 20th Century
Humans
Infant
Infant, Newborn
Male
Netherlands
Pediatrics/history
Syndrome

@article {pmid7478482,
year = {1995},
author = {Lörincz, P and Tímár, L and Czeizel, E},
title = {[Cases of diseases registered with the Genetic Counseling Service during the past 20 years, in the light of their etiology].},
journal = {Orvosi hetilap},
volume = {136},
number = {44},
pages = {2385-2388},
pmid = {7478482},
issn = {0030-6002},
mesh = {Consanguinity ; Family Planning Services ; Female ; Genetic Counseling/*history ; Genetic Diseases, Inborn/classification/epidemiology/*genetics ; History, 20th Century ; Humans ; Hungary/epidemiology ; Infant Mortality ; Infant, Newborn ; Male ; Mutation ; Teratogens ; },
abstract = {The authors analyse the experiences of their Genetic Counseling Clinic between 1979-1992. They show the formation of the motives of presenting and consulting. They range the consultants in three etiological categories (genetical, teratological and clinical entities). The proportion of new consultants increased fourfold and this tendency documents unambiguously the claim of family planners for this very important medical service. The proportion of Mendelian disorders, mutagen risk and consanguinity are relatively continuous. Because of teratogen risk the rate of presenting decreased moderately. The proportion of consultants shows a definite increase of multifactorial frequent disorders, which they value as a favorable tendency. For decreasing of unjustified cases they suggest the necessity of pre-screening.},
}

Consanguinity
Family Planning Services
Female
Genetic Counseling/*history
Genetic Diseases, Inborn/classification/epidemiology/*genetics
History, 20th Century
Humans
Hungary/epidemiology
Infant Mortality
Infant, Newborn
Male
Mutation
Teratogens

@article {pmid8748019,
year = {1995},
author = {Barton, NH and Wilson, I},
title = {Genealogies and geography.},
journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences},
volume = {349},
number = {1327},
pages = {49-59},
doi = {10.1098/rstb.1995.0090},
pmid = {8748019},
issn = {0962-8436},
mesh = {Gene Frequency ; *Genealogy and Heraldry ; Genes/genetics ; *Genetics, Population ; Genotype ; Humans ; Mathematics ; },
abstract = {Any sample of genes traces back to a single common ancestor. Each gene also has other properties: its sequence, its geographic location and the phenotype and fitness of the organism that carries it. With sexual reproduction, different genes have different genealogies, which gives us much more information, but also greatly complicates population genetic analysis. We review the close relation between the distribution of genealogies and the classic theory of identity by descent in spatially structured populations, and develop a simple diffusion approximation to the distribution of coalescence times in a homogeneous two-dimensional habitat. This shows that when neighbourhood size is large (as in most populations) only a small fraction of pairs of genes are closely related, and only this fraction gives information about current rates of gene flow. The increase of spatial dispersion with lineage age is thus a poor estimator of gene flow. The bulk of the genealogy depends on the long-term history of the population; we discuss ways of inferring this history from the concordance between genealogies across loci.},
}

Gene Frequency
*Genealogy and Heraldry
Genes/genetics
*Genetics, Population
Genotype
Humans
Mathematics

@article {pmid8521157,
year = {1995},
author = {Laurence, JZ and Moon, RC},
title = {Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development. 1866.},
journal = {Obesity research},
volume = {3},
number = {4},
pages = {400-403},
doi = {10.1002/j.1550-8528.1995.tb00166.x},
pmid = {8521157},
issn = {1071-7323},
mesh = {Female ; History, 19th Century ; Humans ; Laurence-Moon Syndrome/genetics/*history ; Male ; Ophthalmoscopy/history ; Retinitis Pigmentosa/genetics/*history ; },
}

Female
History, 19th Century
Humans
Laurence-Moon Syndrome/genetics/*history
Male
Ophthalmoscopy/history
Retinitis Pigmentosa/genetics/*history

@article {pmid7597407,
year = {1995},
author = {Hanhart, E},
title = {[Scientific raisins from 125 years SMW (Swiss Medical Weekly). Contribution to constitutional and hereditary research with the help of studies on hereditary ataxia (46 new cases of Friedreich's disease). 1923].},
journal = {Schweizerische medizinische Wochenschrift},
volume = {125},
number = {23},
pages = {1185-1189},
pmid = {7597407},
issn = {0036-7672},
mesh = {Friedreich Ataxia/genetics/*history ; History, 20th Century ; Humans ; },
}

Friedreich Ataxia/genetics/*history
History, 20th Century
Humans

@article {pmid8521292,
year = {1995},
author = {Avery, OT and MacLeod, CM and McCarty, M},
title = {Studies on the chemical nature of the substance inducing transformation of pneumococcal types. Induction of transformation by a desoxyribonucleic acid fraction isolated from Pneumococcus type III. 1944.},
journal = {Molecular medicine (Cambridge, Mass.)},
volume = {1},
number = {4},
pages = {344-365},
pmid = {8521292},
issn = {1076-1551},
mesh = {DNA, Bacterial/*history ; History, 20th Century ; Streptococcus pneumoniae/*genetics ; *Transformation, Bacterial ; },
}

DNA, Bacterial/*history
History, 20th Century
Streptococcus pneumoniae/*genetics
*Transformation, Bacterial

@article {pmid7488943,
year = {1995},
author = {Bender, MA},
title = {Cytogenetics research in radiation biology.},
journal = {Stem cells (Dayton, Ohio)},
volume = {13 Suppl 1},
number = {},
pages = {172-181},
pmid = {7488943},
issn = {1066-5099},
mesh = {Animals ; Cell Death/radiation effects ; Chromosome Aberrations ; *Cytogenetics/history ; DNA Damage ; Dose-Response Relationship, Radiation ; History, 20th Century ; Humans ; Linear Energy Transfer ; Models, Biological ; Mutation ; Neoplasms, Radiation-Induced/etiology/genetics ; *Radiobiology/history ; Research/history ; },
abstract = {Radiation cytogenetics goes back approximately six decades and not only contributed to the earliest development of radiobiology, but continues to contribute today. Contributions on three levels are outlined here. Early contributions to radiobiological theory include the nature of dose-effect curves, dose-rate and fractionation effects, and linear energy transfer (LET) effects. Understanding of the roles of aberrations in endpoints such as cell killing, mutation and carcinogenesis have more recently contributed to unraveling mechanisms in these important radiobiological effects. Finally, the study of various details of classical radiation cytogenetics, such as half chromatid exchange or sister chromatid union, has contributed to our current understanding of cytogenetic phenomena on the molecular level.},
}

Animals
Cell Death/radiation effects
Chromosome Aberrations
*Cytogenetics/history
DNA Damage
Dose-Response Relationship, Radiation
History, 20th Century
Humans
Linear Energy Transfer
Models, Biological
Mutation
Neoplasms, Radiation-Induced/etiology/genetics
*Radiobiology/history
Research/history

@article {pmid7628072,
year = {1995},
author = {Scriver, CR},
title = {Whatever happened to PKU?.},
journal = {Clinical biochemistry},
volume = {28},
number = {2},
pages = {137-144},
doi = {10.1016/0009-9120(94)00076-8},
pmid = {7628072},
issn = {0009-9120},
mesh = {Female ; Genetic Heterogeneity ; History, 20th Century ; Humans ; Male ; Mutation ; Phenylketonurias/genetics/*history ; },
abstract = {The history of PKU is one of science in the discovery of an inborn error of metabolism and a chemical cause of mental retardation; and also one of technology with the development of methods to prevent disease. PKU is the classic example of success in the prevention of a genetic disease. Meanwhile, the science has continued to evolve over the 60 years since the discovery of PKU, generating new understanding of its clinical and metabolic phenotypes and about phenylalanine hydroxylation. At least five known genes are involved in hydroxylation of phenylalanine, synthesis of tetrahybrobiopterin and regeneration of this cofactor. The genes have been cloned and mutations characterized for several enzymes (GTPCH, 6-PTPS, PHS/DoCH, DHPR, PAH). A new animal model (the enu mouse) is contributing to knowledge about pathogenesis of brain disease and potential new treatments. The human phenylalanine hydroxylase gene (PAH) itself harbors 99% of the mutations causing hyperphenylalaninemia, over 170 different mutations have been identified at this locus. They cause loss of function; none affecting regulation has been identified. The aggregate PKU gene frequency at 1% is polymorphic in many human populations and mutations are highly stratified by region and population reflecting a variety of mechanisms (founder effect, genetic drift, hypermutability and, perhaps, selection) for their occurrence and distribution.},
}

Female
Genetic Heterogeneity
History, 20th Century
Humans
Male
Mutation
Phenylketonurias/genetics/*history

@article {pmid8718799,
year = {1995},
author = {Vrbová, H},
title = {[Analysis of the literary legacy of Professor Josef Charvát].},
journal = {Sbornik lekarsky},
volume = {96},
number = {2},
pages = {147-155},
pmid = {8718799},
issn = {0036-5327},
mesh = {Czech Republic ; History, 20th Century ; Humans ; Internal Medicine/history ; },
abstract = {The literary inheritance of Professor Joseph Charvát (1897-1984) consists of 10 monographs and 545 other titles, some of which have not appeared in the public press. The author himself arranged his original papers written in Czech as well as other European languages, reviews, essays on health education, publicistic discourses and Varia chronologically from 1922 till 1981. His literary inheritance reflects the history of the Czech internal medicine, the Czech medical faculty of Charles University in Prague and the Czech society and illustrates the broad field of interests of the author. As a disciple of Joseph Pelnár, he was a broadly oriented internist and a classic of the Czech academic medicine. He is recognized as the founder of Czechoslovak endocrinology and one of the founders of behavioural medicine (21). He was interested in medical education (12) and promotion of clinical science and research. He predicted the significance of biocybernetics, clinical genetics and social medicine and public health for the further development of health sciences. His literary inheritance reflects his civic responsibility, courage and authority he enjoyed in the Czech society during the Thirties, the Forties and the Sixties. His work gives evidence of his activities in the World Health Organization and on Economic and Social Council of the Advisory Committee of United Nations, concerning the application of science and technology to the general world development (13, 14, 15, 16). Professor Joseph Charvát's inheritance has not only historical relevance as it contains specific entities, such as holistic approach to medicine, science, men and human society, which should be rediscovered in the present time. Important is also his warning that the progress of humanistic subjects in medicine lags behind the advances in natural science and technology. Professor Charvát offers an interesting concept of creativity. His mastery of communication and his ethical reflexion on scientific knowledge in natural sciences are of lasting value. The dominant principle of his attitude toward problem solving, in medicine and in the society as well, is a positive feedback concept.},
}

Czech Republic
History, 20th Century
Humans
Internal Medicine/history

@article {pmid8563453,
year = {1995},
author = {Reagan, LJ},
title = {Linking midwives and abortion in the Progressive Era.},
journal = {Bulletin of the history of medicine},
volume = {69},
number = {4},
pages = {569-598},
pmid = {8563453},
issn = {0007-5140},
mesh = {Abortion, Induced/*history ; Female ; History, 19th Century ; History, 20th Century ; Humans ; Midwifery/*history ; Obstetrics/history ; Pregnancy ; United States ; },
}

Abortion, Induced/*history
Female
History, 19th Century
History, 20th Century
Humans
Midwifery/*history
Obstetrics/history
Pregnancy
United States

@article {pmid8563251,
year = {1995},
author = {Li, P and Waldo, D and Pineo, S and Foster, P},
title = {An efficient delivery of historical information for the Mendelian Inheritance in Man database.},
journal = {Proceedings. Symposium on Computer Applications in Medical Care},
volume = {},
number = {},
pages = {127-131},
pmid = {8563251},
issn = {0195-4210},
mesh = {Database Management Systems ; *Databases, Factual/history ; *Genetics, Medical ; History, 20th Century ; Humans ; Online Systems ; Programming Languages ; Quality Control ; *Software ; },
abstract = {The ability to manage information with regard to changes in a database is critical for quality control. This information can also provide audit trails about the time of the change and the person who made the change. In addition, historical information can provide the proper context in which to interpret the relationships between the current and past data. In most genomic databases, only the most recent copy of the information is presented to the user, thereby losing the audit trail and the historical context. Therefore, we have constructed a delivery mechanism for the historical information in the Mendelian Inheritance in Man database. Furthermore, this feature was designed to optionally display only the changes so that the user can bypass the unchanged portions of the text. It was anticipated that technical problems would influence the acceptance of this information delivery. However, the involvement of the editorial staff became the critical factor.},
}

Database Management Systems
*Databases, Factual/history
*Genetics, Medical
History, 20th Century
Humans
Online Systems
Programming Languages
Quality Control
*Software

@article {pmid8534508,
year = {1995},
author = {Grubb, R},
title = {Perspectives and future directions. Immunogenetics.},
journal = {Experimental and clinical immunogenetics},
volume = {12},
number = {3},
pages = {217-221},
doi = {10.1159/000424874},
pmid = {8534508},
issn = {0254-9670},
mesh = {Autoimmune Diseases/genetics/immunology ; Blood Group Antigens/genetics ; Disease Susceptibility/immunology ; Forecasting ; Genetic Predisposition to Disease ; HLA Antigens/genetics ; History, 20th Century ; Humans ; Immunogenetics/history/*trends ; Immunoglobulin Allotypes/genetics ; Rh-Hr Blood-Group System/genetics/history ; Risk Assessment ; Virus Diseases/genetics/immunology ; },
abstract = {An outline of the history of immunogenetics is presented. The usefulness of the Rh, HLA and Gm systems in disease prediction and prevention will increase with our capacity precisely to relate polymorphic variants to particular functions and pathophysiological events. Alloimmunization to Gm markers is common in rheumatoid arthritis, an allegedly autoimmune disease. This paradox and the paradox of nonnominal allotypes, disobeying Mendelian rules, are resolved by the interpretation that herpesviruses may transfer nonself polymorphic genes. Transduction of such genes may be important also in AIDS pathogenesis.},
}

Autoimmune Diseases/genetics/immunology
Blood Group Antigens/genetics
Disease Susceptibility/immunology
Forecasting
Genetic Predisposition to Disease
HLA Antigens/genetics
History, 20th Century
Humans
Immunogenetics/history/*trends
Immunoglobulin Allotypes/genetics
Rh-Hr Blood-Group System/genetics/history
Risk Assessment
Virus Diseases/genetics/immunology

@article {pmid7762985,
year = {1995},
author = {Bertranpetit, J and Sala, J and Calafell, F and Underhill, PA and Moral, P and Comas, D},
title = {Human mitochondrial DNA variation and the origin of Basques.},
journal = {Annals of human genetics},
volume = {59},
number = {1},
pages = {63-81},
doi = {10.1111/j.1469-1809.1995.tb01606.x},
pmid = {7762985},
issn = {0003-4800},
support = {GMS 20467/GM/NIGMS NIH HHS/United States ; GMS 28428/GM/NIGMS NIH HHS/United States ; },
mesh = {Base Sequence ; DNA, Mitochondrial/*genetics ; Emigration and Immigration ; Ethnicity/*genetics/history ; Europe ; Gene Frequency ; Genetic Markers ; History, Modern 1601- ; Humans ; Italy ; Middle East ; Molecular Sequence Data ; Polymerase Chain Reaction ; Population Dynamics ; Spain ; White People/genetics ; },
abstract = {The hypervariable segment I of the control region of the mtDNA (positions 16024-16383) was PCR-amplified from mouth scrape and hairs and sequenced in 45 unrelated individuals of pure matrilineal Basque descent. Twenty-seven different sequences were found, of which 21 are unique to the Basques. The allelic partition observed, together with resampling experiments, suggested that much more variation remained to be discovered. The mean pairwise difference in number of nucleotides between individuals was 3-15, a very low value. Moreover, the number of steps for the most parsimonious tree is very low compared to the number of different sequences. Both findings suggest that the Basque population was founded by a few lineages that diverged in a short time span. The number of nucleotide differences between individuals was shown not to be influenced by the distance between their birthplaces, thus validating the sampling strategy used a posteriori. The pairwise difference distribution agreed well with the three-parameter model proposed by Rogers & Harpending (1992). The parameter estimates found for the Basques implied that a demographic expansion (or perhaps two, given the bimodal shape of the distribution) took place sometime between 14500 and 42000 BP which is in agreement with archaeological data. Our sample was compared to other populations for which D-loop sequences were available through the Nei & Miller (1990) distance. In a neighbour-joining tree, all the Caucasoid samples, including the Basques, appeared tightly clustered, whereas African samples were the most distant to the Caucasoids and also the most heterogeneous. Although classical markers, such as blood groups and protein polymorphisms, clearly separate the Basques (and the Sardinians) from other European populations, this distinctiveness was not found using D-loop sequences.},
}

Base Sequence
DNA, Mitochondrial/*genetics
Emigration and Immigration
Ethnicity/*genetics/history
Europe
Gene Frequency
Genetic Markers
History, Modern 1601-
Humans
Italy
Middle East
Molecular Sequence Data
Polymerase Chain Reaction
Population Dynamics
Spain
White People/genetics

@article {pmid7766954,
year = {1994},
author = {Følling, I},
title = {The discovery of phenylketonuria.},
journal = {Acta paediatrica (Oslo, Norway : 1992). Supplement},
volume = {407},
number = {},
pages = {4-10},
doi = {10.1111/j.1651-2227.1994.tb13440.x},
pmid = {7766954},
issn = {0803-5326},
mesh = {Awards and Prizes ; History, 20th Century ; Humans ; Intellectual Disability/history ; Norway ; Phenylketonurias/genetics/*history/urine ; Philosophy ; United States ; },
abstract = {In 1934, two severely mentally retarded children were examined by Dr Asbjørn Følling. He proved, by classical organic chemistry, that they excreted phenylpyruvic acid in their urine. The substance was also found in the urine of eight additional mentally retarded patients. Based on these observations, oligophrenia phenylpyrouvica (later termed phenylketonuria) was described as a new inborn error of metabolism. Følling later showed the pattern of an autosomal recessive genetic disease, probably caused by a block in phenylalanine metabolism, and that asymptomatic heterozygote carriers of the trait could be detected by phenylalanine loading. The stepwise elucidation and the line of reasoning are described. Phenylketonuria was the first inborn error of metabolism shown to affect the mind, and its importance as a model disease is emphasized. The article finally gives some insight into aspects of the personality of the discoverer.},
}

Awards and Prizes
History, 20th Century
Humans
Intellectual Disability/history
Norway
Phenylketonurias/genetics/*history/urine
Philosophy
United States

@article {pmid7821729,
year = {1994},
author = {De Meyts, P},
title = {The structural basis of insulin and insulin-like growth factor-I receptor binding and negative co-operativity, and its relevance to mitogenic versus metabolic signalling.},
journal = {Diabetologia},
volume = {37 Suppl 2},
number = {},
pages = {S135-48},
pmid = {7821729},
issn = {0012-186X},
mesh = {Amino Acid Sequence ; Animals ; *Awards and Prizes ; Belgium ; Cell Division ; *Diabetes Mellitus/history ; Europe ; Exons ; History, 20th Century ; Humans ; Insulin/*physiology ; Insulin-Like Growth Factor I/*physiology ; Macromolecular Substances ; Models, Molecular ; Models, Structural ; Receptor, IGF Type 1/chemistry/genetics/*physiology ; Receptor, Insulin/chemistry/genetics/*physiology ; *Signal Transduction ; Societies, Medical ; },
abstract = {Insulin and insulin-like growth factor-I exhibit a set of non-classical receptor binding properties suggestive of negative co-operativity or site-site interactions between the two receptor halves: curvilinear Scatchard plots, acceleration of dissociation of bound labelled ligand at high dilution in the presence of unlabelled ligand. The alpha 2 beta 2 receptor dimer binds only one ligand molecule with high affinity. The dose-response curve for the acceleration of 125I-insulin by unlabelled insulin is bell-shaped, with a disappearance of the negative co-operativity at insulin concentrations over 0.1 mumol/l. This phenomenon had been attributed to insulin dimerization, but new data with non-dimerizing analogues and insulins modified at the hexamer-forming surface indicate the presence of a second binding site on the insulin molecule's hexamer face. This site binds to a second domain on the receptor. A new binding model for insulin and insulin-like growth factor-I is proposed where the bivalent ligand bridges the two receptor alpha subunits alternatively at opposite sites in a symmetrical receptor structure. The implications of the model for negative co-operativity, bell-shaped biological curves, and the divergence between mitogenic and metabolic signalling are discussed in the context of the evolution of the properties of insulin and insulin-like growth factor-I.},
}

Amino Acid Sequence
Animals
*Awards and Prizes
Belgium
Cell Division
*Diabetes Mellitus/history
Europe
Exons
History, 20th Century
Humans
Insulin/*physiology
Insulin-Like Growth Factor I/*physiology
Macromolecular Substances
Models, Molecular
Models, Structural
Receptor, IGF Type 1/chemistry/genetics/*physiology
Receptor, Insulin/chemistry/genetics/*physiology
*Signal Transduction
Societies, Medical

@article {pmid8085089,
year = {1994},
author = {Cruz-Coke, R},
title = {[The evolution theory in the medical sciences in Chile].},
journal = {Revista medica de Chile},
volume = {122},
number = {2},
pages = {211-214},
pmid = {8085089},
issn = {0034-9887},
mesh = {*Biological Evolution ; Chile ; History, 19th Century ; History, 20th Century ; },
abstract = {The evolutionist ideas of Lamarck, Darwin and Haeckel entered the country through the arrival of their books. "On the origin of Species" arrived in Chile in 1869. The most outstanding immigrant european physicians that discussed these ideas were Rodulfo A Phillippi (1808-1904) and Juan José Brunner (1825-1899). Both discussed Darwin's ideas in their books and conferences as academics of the Faculty of Medicine of the University of Chile. The first Chilean physicians that read and discussed the validity of evolution theory were Adolfo Valderrama (1834-1902) and Pedro Candia Salgado. Both wrote articles about this matter in Revista Médica de Chile in 1872 and 1874. The professor of general biology, Juan Noé Crevani, italian physician and zoologist that arrived in Chile in 1912, was the first to teach directly the concepts of the evolution theory until his death in 1947. Professor Noé founded the great biological school of the twentieth century in Chile and his disciples introduced the concepts of Mendelian theory and neodarwinism in the decade of fifties. The theory of evolution was taught as a chapter of general biology in the Faculty of Medicine between 1913 and 1947, but its practical applications to medicine were introduced with the birth of medical genetics in the decade of fifties and the foundation of Chilean Genetics society in 1964, under the direction of professors Danko Brncic and Gustavo Hoecker, both awarded with the National Sciences Prize.},
}

*Biological Evolution
Chile
History, 19th Century
History, 20th Century

@article {pmid8005636,
year = {1994},
author = {Bhende, YM and Deshpande, CK and Bhatia, HM and Sanger, R and Race, RR and Morgan, WT and Watkins, WM},
title = {A "new" blood-group character related to the ABO system. 1952.},
journal = {The Indian journal of medical research},
volume = {99},
number = {},
pages = {3 p.},
pmid = {8005636},
issn = {0971-5916},
mesh = {ABO Blood-Group System/genetics/*history/immunology ; History, 20th Century ; Humans ; Male ; },
}

ABO Blood-Group System/genetics/*history/immunology
History, 20th Century
Humans
Male

@article {pmid8280741,
year = {1993},
author = {Horowitz, SL and Chabora, AJ},
title = {A translation of Christopher Jacob Trew's article, "Observations presenting examples of missing palate. 1757.},
journal = {The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association},
volume = {30},
number = {6},
pages = {593-594},
doi = {10.1597/1545-1569_1993_030_0593_opeomp_2.3.co_2},
pmid = {8280741},
issn = {1055-6656},
mesh = {Cleft Lip/*history/pathology ; Cleft Palate/*history/pathology ; Germany ; History, 18th Century ; Humans ; Palate/pathology ; },
abstract = {The following "Observation" appeared (in Latin) in the Deutsche Akademie der Naturforscher Leopoldina of 1757 and to our knowledge has never been published in the English literature. We came across the report in the early 1970s while preparing the report "Cleft lip and cleft palate: one genetic system" (Chabora and Horowitz, 1974). The 1757 paper was translated by a member of the Columbia University Greek and Latin Department, but reached us too late for inclusion in our references. Forgotten for many years, the paper, and its translation, recently came to light in our files. Christopher Jacob Trew's clear description of penetrance and expressivity in a kindred in which both cleft lip and palate and isolated cleft palate are segregating may be something of an historic curiosity at this point, but we expect that others will enjoy reading this early example of a careful and thoughtful pedigree study.},
}

Cleft Lip/*history/pathology
Cleft Palate/*history/pathology
Germany
History, 18th Century
Humans
Palate/pathology

@article {pmid8279481,
year = {1993},
author = {Beighton, P and Sujansky, E and Patzak, B and Portele, KA},
title = {Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.},
journal = {American journal of medical genetics},
volume = {47},
number = {6},
pages = {843-847},
doi = {10.1002/ajmg.1320470609},
pmid = {8279481},
issn = {0148-7299},
mesh = {Achondroplasia/genetics/pathology ; Adult ; Austria ; Bone Diseases, Developmental/*genetics/pathology ; Bone and Bones/*pathology ; Cleidocranial Dysplasia/genetics/pathology ; Exostoses, Multiple Hereditary/genetics/pathology ; Female ; Humans ; Infant ; Male ; Marfan Syndrome/genetics/pathology ; Middle Aged ; *Museums ; *Pathology ; Rickets/genetics/*pathology ; },
abstract = {Skeletal material in the Museum of Pathological Anatomy, Vienna, has been appraised in order to modify existing descriptive designations and to establish diagnoses of specific genetic disorders. In this way osseous material relating to classical genetic syndromes has been identified and will be available for further study. Among the skeletons of adults in the museum, the following genetic conditions could be diagnosed: achondroplasia, Marfan syndrome, cleidocranial dysostosis, and diaphyseal aclasia. In adult sisters with dwarfism and a rickety bone disorder, the final diagnosis was uncertain. Infantile bone dysplasias, genetic conditions involving the skull, and malformation syndromes which are all represented in the museum are currently being analyzed.},
}

Achondroplasia/genetics/pathology
Adult
Austria
Bone Diseases, Developmental/*genetics/pathology
Bone and Bones/*pathology
Cleidocranial Dysplasia/genetics/pathology
Exostoses, Multiple Hereditary/genetics/pathology
Female
Humans
Infant
Male
Marfan Syndrome/genetics/pathology
Middle Aged
*Museums
*Pathology
Rickets/genetics/*pathology

@article {pmid8222248,
year = {1993},
author = {Goldberg, DM and Diamandis, EP},
title = {Models of neoplasia and their diagnostic implications: a historical perspective.},
journal = {Clinical chemistry},
volume = {39},
number = {11 Pt 2},
pages = {2360-2374},
pmid = {8222248},
issn = {0009-9147},
mesh = {History, 20th Century ; Humans ; *Models, Biological ; Neoplasm Metastasis ; Neoplasms/chemically induced/diagnosis/etiology/genetics/*history ; Phenotype ; },
abstract = {In comparison with normal cells, cancer cells have an enhanced ability to trap both nitrogen and energy; an enhanced operation of the glycolytic and direct oxidative pathways, leading to accumulation of lactate and increased production of NADPH; and a greater content of lysosomal hydrolases. These changes represent a reprogramming of gene expression, which, at its most specific, is accompanied by the reappearance in the cell and ultimately in the body fluids of oncodevelopmental proteins not normally found in mature adult tissues. The most florid stage of this reprogramming leads to the metastatic phenotype, which confers upon the cancer cell the ability to stimulate angiogenesis, invade the bloodstream and lymphatic vessel, and arrest and proliferate in distant tissues. The diagnostic implications of these phenotypic changes are illustrated for cancer of the cervix uteri and cancer of the colon. We also review the classical theories of neoplasia, including the cellular anoxia concept of Warburg, the deletion hypothesis of Potter, and various other mechanisms emphasizing genomic derepression and impaired immunity. The critical steps in chemical carcinogenesis are described, and the Vogelstein-Lane model is presented, emphasizing the stepwise and cumulative genomic changes affecting chromosomes 5q, 17p, 18q, and gene amplification of chromosome 12 as well as genomic instability resulting from reduced DNA methylation. The main consequences of these genomic alterations include overexpression or activation of oncogenes such as c-myc and k-ras, together with mutation or functional inactivation of suppressor genes such as p53. Finally, the implications of these findings for diagnosis and management are illustrated by reference to recent investigations in cancers of the breast, colon, and bladder, in which these genomic alterations can be detected by examination of appropriate cellular material and by detection in serum of antibodies to the p53 gene product.},
}

History, 20th Century
Humans
*Models, Biological
Neoplasm Metastasis
Neoplasms/chemically induced/diagnosis/etiology/genetics/*history
Phenotype

@article {pmid8210994,
year = {1993},
author = {Tonegawa, S},
title = {The Nobel Lectures in Immunology. The Nobel Prize for Physiology or Medicine, 1987. Somatic generation of immune diversity.},
journal = {Scandinavian journal of immunology},
volume = {38},
number = {4},
pages = {303-319},
doi = {10.1111/j.1365-3083.1993.tb01731.x},
pmid = {8210994},
issn = {0300-9475},
mesh = {*Allergy and Immunology/history ; *Antibody Diversity ; Awards and Prizes ; *Genes, Immunoglobulin ; History, 20th Century ; Humans ; *Nobel Prize ; Receptors, Antigen, T-Cell/*genetics ; },
}

*Allergy and Immunology/history
*Antibody Diversity
Awards and Prizes
*Genes, Immunoglobulin
History, 20th Century
Humans
*Nobel Prize
Receptors, Antigen, T-Cell/*genetics

@article {pmid7688132,
year = {1993},
author = {Portin, P},
title = {The concept of the gene: short history and present status.},
journal = {The Quarterly review of biology},
volume = {68},
number = {2},
pages = {173-223},
doi = {10.1086/418039},
pmid = {7688132},
issn = {0033-5770},
mesh = {Animals ; Chromosomes ; DNA/genetics ; Eukaryotic Cells/physiology ; Europe ; Gene Expression Regulation ; *Genes ; Genetic Code ; Genetic Techniques/history ; Genetics/*history ; History, 20th Century ; Humans ; Models, Genetic ; Prokaryotic Cells/physiology ; Protein Biosynthesis ; Proteins/genetics ; RNA/genetics ; United States ; },
abstract = {The concept of the gene is and has always been a continuously evolving one. In order to provide a structure for understanding the concept, its history is divided into classical, neoclassical, and modern periods. The classical view prevailed into the 1930s, and conceived the gene as an indivisible unit of genetic transmission, recombination, mutation, and function. The discovery of intragenic recombination in the early 1940s and the establishment of DNA as the physical basis of inheritance led to the neoclassical concept of the gene, which prevailed until the 1970s. In this view the gene (or cistron, as it was called then) was subdivided into its constituent parts, mutons and recons, identified as nucleotides. Each cistron was believed to be responsible for the synthesis of a single mRNA and hence for one polypeptide. This colinearity hypothesis prevailed from 1955 to the 1970s. Starting from the early 1970s, DNA technologies have led to the modern period of gene conceptualization, wherein none of the classical or neoclassical criteria are sufficient to define a gene. Modern discoveries include those of repeated genes, split genes and alternative splicing, assembled genes, overlapping genes, transposable genes, complex promoters, multiple polyadenylation sites, polyprotein genes, editing of the primary transcript, and nested genes. We are currently left with a rather abstract, open, and generalized concept of the gene, even though our comprehension of the structure and organization of the genetic material has greatly increased.},
}

Animals
Chromosomes
DNA/genetics
Eukaryotic Cells/physiology
Europe
Gene Expression Regulation
*Genes
Genetic Code
Genetic Techniques/history
Genetics/*history
History, 20th Century
Humans
Models, Genetic
Prokaryotic Cells/physiology
Protein Biosynthesis
Proteins/genetics
RNA/genetics
United States

@article {pmid8272644,
year = {1993},
author = {Cruz-Coke, R},
title = {[Fiftieth anniversary of classical genetics of professor Noe (1943-1993)].},
journal = {Revista medica de Chile},
volume = {121},
number = {5},
pages = {581-587},
pmid = {8272644},
issn = {0034-9887},
mesh = {Chile ; Education, Medical/history ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Schools, Medical/history ; Universities/history ; },
abstract = {Fifty years ago, the author was a student of Dr Juan Noé's general biology course. Dr Noé, an italian physician and biologist, was the most outstanding european teacher in Chile during the first half of twentieth century (1912-1947) and was the founder of the "Instituto de Biología de la Universidad de Chile". In 1943 Dr Noé taught to the author the classical genetics of that age that included basic concepts of mendelian theory, evolution, comparative anatomy, cytogenetics, eugenics and normal and pathological inheritance. He also undertook controversial problems of those times such as eugenics, racism, humanism and the ambiguity about "inherited defects" associated to syphilis, alcoholism and tuberculosis. The author received a firm education on the history of biological sciences, mendelism, evolution and genetic etiology of classical hereditary diseases such as hemophilia, daltonism, Huntington chorea and muscular dystrophy. Furthermore, Noé made mention of the hereditary etiology of cancer in animals and human leukemias and of the concept of polygenic diseases as a consequence inheritance-environment interactions. The author concludes emphasizing the importance of basic and clinical education in the teaching of medical genetics.},
}

Chile
Education, Medical/history
Genetics, Medical/*history
History, 20th Century
Humans
Schools, Medical/history
Universities/history

@article {pmid8456501,
year = {1993},
author = {Modell, B and Kuliev, AM},
title = {A scientific basis for cost-benefit analysis of genetics services.},
journal = {Trends in genetics : TIG},
volume = {9},
number = {2},
pages = {46-52},
doi = {10.1016/0168-9525(93)90186-L},
pmid = {8456501},
issn = {0168-9525},
mesh = {Abortion, Therapeutic ; Algorithms ; *Cost-Benefit Analysis ; Eugenics ; Europe ; Female ; Genetic Counseling/*economics ; Genetic Diseases, Inborn ; Genetic Testing/*economics ; Health Policy ; Humans ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis/*economics ; Resource Allocation ; State Medicine/economics ; United Kingdom ; World Health Organization ; beta-Thalassemia/genetics/prevention & control ; },
abstract = {Economic appraisal of genetics services is important, but, in this sensitive area, analyses limited to financial aspects understandably cause public concern. Evaluation of these services must take account of their aim of helping everyone with a genetic disadvantage to live and reproduce as normally as possible, and must apply equally to patients and to couples at risk of having affected children. Here we propose that the classical concept of genetic fitness can be useful in evaluating genetics services, because it is measurable, and truly represents their underlying aim.},
}

Abortion, Therapeutic
Algorithms
*Cost-Benefit Analysis
Eugenics
Europe
Female
Genetic Counseling/*economics
Genetic Diseases, Inborn
Genetic Testing/*economics
Health Policy
Humans
Infant, Newborn
Pregnancy
Prenatal Diagnosis/*economics
Resource Allocation
State Medicine/economics
United Kingdom
World Health Organization
beta-Thalassemia/genetics/prevention & control

@article {pmid8261258,
year = {1993},
author = {Hopper, JL},
title = {Variance components for statistical genetics: applications in medical research to characteristics related to human diseases and health.},
journal = {Statistical methods in medical research},
volume = {2},
number = {3},
pages = {199-223},
doi = {10.1177/096228029300200302},
pmid = {8261258},
issn = {0962-2802},
mesh = {Genetic Diseases, Inborn/*genetics ; *Genetic Variation ; *Health Status ; History, 20th Century ; Humans ; *Models, Genetic ; *Models, Statistical ; Multivariate Analysis ; Pedigree ; Social Environment ; },
abstract = {RA Fisher introduced variance components in 1918. He synthesized Mendelian inheritance with Darwin's theory of evolution by showing that the genetic variance of a continuous trait could be decomposed into additive and non-additive components. The model can be extended to include environmental factors, interactions, covariation, and non-random mating. Identifiability depends critically on design. Methods of analysis include modelling the mean squares from a fixed effects analysis of variance, and covariance structure modelling, which can be extended to multivariate traits and has been used to study ordinal traits by reference to postulated, unmeasured, latent 'liabilities'. These methods operate on dependent observations within independent groups of the same size and structure, and therefore require balanced designs ('regular' pedigrees). A multivariate normal model handles data in its generic form, utilizes data efficiently from all members of pedigrees of unequal size or varying structure, accommodates individuals missing at random, and allows flexible modelling with tests of distributional assumptions and fit. Most analytical methods use least squares or maximum likelihood under normal theory. Robust methods, scale transformation, ascertainment, path diagrams and correlational path models (popular in behavioural genetics through addressing nonrandom mating and social interactions), 'heritability', and the contribution and limitations of statistical modelling to the 'nature-nurture' debate, are discussed.},
}

Genetic Diseases, Inborn/*genetics
*Genetic Variation
*Health Status
History, 20th Century
Humans
*Models, Genetic
*Models, Statistical
Multivariate Analysis
Pedigree
Social Environment

@article {pmid7520820,
year = {1993},
author = {Cavalli-Sforza, LL and Piazza, A},
title = {Human genomic diversity in Europe: a summary of recent research and prospects for the future.},
journal = {European journal of human genetics : EJHG},
volume = {1},
number = {1},
pages = {3-18},
doi = {10.1159/000472383},
pmid = {7520820},
issn = {1018-4813},
support = {GMS20467/GM/NIGMS NIH HHS/United States ; },
mesh = {Africa ; Alleles ; Americas ; Asia ; Australia ; DNA/genetics ; Ethnicity/genetics/history ; Europe ; Gene Frequency ; Genetic Markers ; *Genetic Variation ; History, Ancient ; Human Genome Project ; Humans ; Language ; Phylogeny ; Polymorphism, Genetic ; Population Dynamics ; },
abstract = {Gene frequencies in Europe are intermediate with respect to those of other continents. A phylogenetic tree reconstructed from 95 gene frequencies tested on 26 European samples shows some deviant populations (Lapps, Sardinians, Greeks, Yugoslavs, Basques, Icelanders and Finns) and other weakly structured populations. This behavior may have a simple interpretation: Europeans have not evolved according to a tree of descent probably because of the major role played by migrations in prehistorical and historical times. The leading component of the European genetic landscape is a gradient that originates in the Middle East and is directed to the northwest. According to the hypothesis by Ammerman and Cavalli-Sforza this gradient was generated by a migration of Neolithic farmers from Anatolia followed by continuous, partial admixture of the expanding farmers with local hunter-gatherers. Other leading components of the gene frequencies in Europe show correlations with possible movements of Uralic-speaking people and pastoral nomads from a region north of the Caucasus and Black Sea, which according to Gimbutas is the area of origin of Indo-European speakers. This analysis is based on classical pre-DNA genetic markers. The prospect of future research using DNA polymorphisms is discussed in the context of the Human Genome Project.},
}

Africa
Alleles
Americas
Asia
Australia
DNA/genetics
Ethnicity/genetics/history
Europe
Gene Frequency
Genetic Markers
*Genetic Variation
History, Ancient
Human Genome Project
Humans
Language
Phylogeny
Polymorphism, Genetic
Population Dynamics