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Bibliography on: History of Genetics

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ESP: PubMed Auto Bibliography 14 Nov 2022 at 02:03 Created: 

History of Genetics

Created with PubMed® Query: "Genetics/*history"[MESH] NOT pmcbook NOT ispreviousversion

Citations The Papers (from PubMed®)


RevDate: 2022-10-25
CmpDate: 2022-10-25

Bertoldi N (2022)

"Batesonian Mendelism" and "Pearsonian biometry": shedding new light on the controversy between William Bateson and Karl Pearson.

History and philosophy of the life sciences, 44(4):49 pii:10.1007/s40656-022-00528-5.

This paper contributes to the ongoing reassessment of the controversy between William Bateson and Karl Pearson by characterising what we call "Batesonian Mendelism" and "Pearsonian biometry" as coherent and competing scientific outlooks. Contrary to the thesis that such a controversy stemmed from diverging theoretical commitments on the nature of heredity and evolution, we argue that Pearson's and Bateson's alternative views on those processes ultimately relied on different appraisals of the methodological value of the statistical apparatus developed by Francis Galton. Accordingly, we contend that Bateson's belief in the primacy of cross-breeding experiments over statistical analysis constituted a minimal methodological unifying condition ensuring the internal coherence of Batesonian Mendelism. Moreover, this same belief implied a view of the study of heredity and evolution as an experimental endeavour and a conception of heredity and evolution as fundamentally discontinuous processes. Similarly, we identify a minimal methodological unifying condition for Pearsonian biometry, which we characterise as the view that experimental methods had to be subordinate to statistical analysis, according to methodological standards set by biometrical research. This other methodological commitment entailed conceiving the study of heredity and evolution as subsumable under biometry and primed Pearson to regard discontinuous hereditary and evolutionary processes as exceptions to a statistical norm. Finally, we conclude that Batesonian Mendelism and Pearsonian biometry represented two potential versions of a single genetics-based evolutionary synthesis since the methodological principles and the phenomena that played a central role in the former were also acknowledged by the latter-albeit as fringe cases-and conversely.

RevDate: 2022-09-28
CmpDate: 2022-09-26

Pederson T (2022)

Medical genetics then and now.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 36(10):e22565.

RevDate: 2022-09-19
CmpDate: 2022-09-08

Noble S, Burgess SM, E Strauss (2022)

Christine Guthrie (1945-2022).

Science (New York, N.Y.), 377(6610):1049.

RNA trailblazer who illuminated splicing mechanics.

RevDate: 2022-09-13
CmpDate: 2022-09-13

Worliczek HL (2022)

"How Many Individuals Consider Themselves to Be Cell Biologists but Are Informed by the Journal That Their Work Is Not Cell Biology".

Berichte zur Wissenschaftsgeschichte, 45(3):344-354.

What can we gain from co-analyzing experimental cultures, regionalization, and disciplinary phenomena of late twentieth century life sciences under our historiographic looking glass? This essay investigates the potential of such a strategy for the case of cell biology after 1960. By merging perspectives from historical epistemology inspired by the work of Hans-Jörg Rheinberger with a focus on boundary work in the realm of scientific publishing, community building, and disciplinary norms, a set of understudied scientific practices is exposed. These practices, historically subsumed under the label descriptive, have been as central in cell biology as hypothesis-driven research aiming at mechanistic explanations of cellular function. Against the background of an increasing molecular-mechanistic imperative in cell biology since the late 1960s, knowledge from descriptive practices was often judged as having low value but was nonetheless frequently cited and considered essential. Investigating the underlying epistemic practices and their interactions with disciplinary gatekeeping phenomena (as policed by journals and learned societies) provides historiographic access to the plurality of experimental cultures of cell biology, scattered into many interdisciplinary research fields-with some of them only partially engaged with mechanistic questions.

RevDate: 2022-08-23
CmpDate: 2022-08-04

Carlson JR (2022)

Sidney Altman and the RNA revolution.

Proceedings of the National Academy of Sciences of the United States of America, 119(32):e2211692119.

RevDate: 2022-08-09
CmpDate: 2022-08-09

Pontarotti G, Mossio M, A Pocheville (2022)

The genotype-phenotype distinction: from Mendelian genetics to 21st century biology.

Genetica, 150(3-4):223-234.

The Genotype-Phenotype (G-P) distinction was proposed in the context of Mendelian genetics, in the wake of late nineteenth century studies about heredity. In this paper, we provide a conceptual analysis that highlights that the G-P distinction was grounded on three pillars: observability, transmissibility, and causality. Originally, the genotype is the non-observable and transmissible cause of its observable and non-transmissible effect, the phenotype. We argue that the current developments of biology have called the validity of such pillars into question. First, molecular biology has unveiled the putative material substrate of the genotype (qua DNA), making it an observable object. Second, numerous findings on non-genetic heredity suggest that some phenotypic traits can be directly transmitted. Third, recent organicist approaches to biological phenomena have emphasized the reciprocal causality between parts of a biological system, which notably applies to the relation between genotypes and phenotypes. As a consequence, we submit that the G-P distinction has lost its general validity, although it can still apply to specific situations. This calls for forging new frameworks and concepts to better describe heredity and development.

RevDate: 2022-08-01
CmpDate: 2022-07-22

Berry A, J Browne (2022)

Mendel and Darwin.

Proceedings of the National Academy of Sciences of the United States of America, 119(30):e2122144119.

Evolution by natural selection is an explicitly genetic theory. Darwin recognized that a working theory of inheritance was central to his theory and spent much of his scientific life seeking one. The seeds of his attempt to fill this gap, his "provisional hypothesis" of pangenesis, appear in his notebooks when he was first formulating his evolutionary ideas. Darwin, in short, desperately needed Mendel. In this paper, we set Mendel's work in the context of experimental biology and animal/plant breeding of the period and review both the well-known story of possible contact between Mendel and Darwin and the actual contact between their ideas after their deaths. Mendel's contributions to evolutionary biology were fortuitous. Regardless, it is Mendel's work that completed Darwin's theory. The modern theory based on the marriage between Mendel's and Darwin's ideas as forged most comprehensively by R. A. Fisher is both Darwin's achievement and Mendel's.

RevDate: 2022-07-26
CmpDate: 2022-07-22

Stenseth NC, Andersson L, HE Hoekstra (2022)

Gregor Johann Mendel and the development of modern evolutionary biology.

Proceedings of the National Academy of Sciences of the United States of America, 119(30):e2201327119.

RevDate: 2022-07-26
CmpDate: 2022-07-22

Barton NH (2022)

The "New Synthesis".

Proceedings of the National Academy of Sciences of the United States of America, 119(30):e2122147119.

When Mendel's work was rediscovered in 1900, and extended to establish classical genetics, it was initially seen in opposition to Darwin's theory of evolution by natural selection on continuous variation, as represented by the biometric research program that was the foundation of quantitative genetics. As Fisher, Haldane, and Wright established a century ago, Mendelian inheritance is exactly what is needed for natural selection to work efficiently. Yet, the synthesis remains unfinished. We do not understand why sexual reproduction and a fair meiosis predominate in eukaryotes, or how far these are responsible for their diversity and complexity. Moreover, although quantitative geneticists have long known that adaptive variation is highly polygenic, and that this is essential for efficient selection, this is only now becoming appreciated by molecular biologists-and we still do not have a good framework for understanding polygenic variation or diffuse function.

RevDate: 2022-07-22
CmpDate: 2022-07-22

Bomblies K, CL Peichel (2022)

Genetics of adaptation.

Proceedings of the National Academy of Sciences of the United States of America, 119(30):e2122152119.

The rediscovery of Mendel's work showing that the heredity of phenotypes is controlled by discrete genes was followed by the reconciliation of Mendelian genetics with evolution by natural selection in the middle of the last century with the Modern Synthesis. In the past two decades, dramatic advances in genomic methods have facilitated the identification of the loci, genes, and even individual mutations that underlie phenotypic variants that are the putative targets of natural selection. Moreover, these methods have also changed how we can study adaptation by flipping the problem around, allowing us to first examine what loci show evidence of having been under selection, and then connecting these genetic variants to phenotypic variation. As a result, we now have an expanding list of actual genetic changes that underlie potentially adaptive phenotypic variation. Here, we synthesize how considering the effects of these adaptive loci in the context of cellular environments, genomes, organisms, and populations has provided new insights to the genetic architecture of adaptation.

RevDate: 2022-07-21
CmpDate: 2022-07-21

Kendler KS (2022)

Medical genetics in the 19th century as background to the development of psychiatric genetics.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 189(5):119-127.

This article examines the relationship between the early efforts of alienists to understand the role of heredity in the etiology of insanity in the 19th century and the parallel efforts of the nascent discipline of medical genetics. I review three monographs on general medical genetics: Adams in 1814, Steinau in 1843, and Lithgow in 1889. Numerous parallels were seen between their writings and those of their contemporary alienists working on mental disorders including (i) an emphasis on the transmission of the liability to illness rather than the illness itself, (ii) discussions of the homogeneous versus heterogeneous nature of familial transmission of disease, (iii) the relative value of direct versus indirect hereditary effects, (iv) the role of mothers versus fathers in transmitting liability, (v) possible environmental sources of familial clustering, and (vi) the transmission of age at onset of illness. All three medical genetic authors noted that insanity was among the more heritable of human disorders. Furthermore, Lithgow noted the importance of heritable influences on the non-psychotic forms of psychiatric illness rarely seen in asylums. This survey demonstrates substantial consilience in the topics of interest and conclusions of the nascent general medical and psychiatric genetics' communities in the 19th century.

RevDate: 2022-06-21
CmpDate: 2022-06-16

Guérin TM, S Marcand (2022)

Breakage in breakage-fusion-bridge cycle: an 80-year-old mystery.

Trends in genetics : TIG, 38(7):641-645.

2021 marked the 80th anniversary of Barbara McClintock's pioneering article on the breakage-fusion-bridge (BFB) cycle. Of the three steps of the BFB cycle, breakage remains the least understood despite its major contribution to mutagenesis. We discuss recent findings shedding light on how chromatin bridges break in yeast and animal cells.

RevDate: 2022-05-31
CmpDate: 2022-05-31

Radick G (2022)

Mendel the fraud? A social history of truth in genetics.

Studies in history and philosophy of science, 93:39-46.

Two things about Gregor Mendel are common knowledge: first, that he was the "monk in the garden" whose experiments with peas in mid-nineteenth-century Moravia became the starting point for genetics; second, that, despite that exalted status, there is something fishy, maybe even fraudulent, about the data that Mendel reported. Although the notion that Mendel's numbers were, in statistical terms, too good to be true was well understood almost immediately after the famous "rediscovery" of his work in 1900, the problem became widely discussed and agonized over only from the 1960s, for reasons having as much to do with Cold War geopolitics as with traditional concerns about the objectivity of science. Appreciating the historical origins of the problem as we have inherited it can be a helpful step in shifting the discussion in more productive directions, scientific as well as historiographic.

RevDate: 2022-05-02
CmpDate: 2022-05-02

Anonymous (2022)

2021 ASHG awards and addresses.

American journal of human genetics, 109(3):379-380.

Each year at the annual meeting of the American Society of Human Genetics (ASHG), addresses are given in honor of the Society and a number of award winners. A summary of each of these is provided below. On the following pages, we have printed the Presidential Address as well as the addresses for the William Allan Award, the Curt Stern Award, and the McKusick Leadership Award. Recordings of these addresses, as well as those of many other presentations, can be found at

RevDate: 2022-04-05
CmpDate: 2022-04-05

Shan Y (2021)

Beyond Mendelism and Biometry.

Studies in history and philosophy of science, 89:155-163.

Historiographical analyses of the development of genetics in the first decade of the 20th century have been to a great extent framed in the context of the Mendelian-Biometrician controversy. Much has been discussed on the nature, origin, development, and legacy of the controversy. However, such a framework is becoming less useful and fruitful. This paper challenges the traditional historiography framed by the Mendelian-Biometrician distinction. It argues that the Mendelian-Biometrician distinction fails to reflect the theoretical and methodological diversity in the controversy. It also argues that the Mendelian-Biometrician distinction is not helpful to make a full understanding of the development of genetics in the first decade of the twentieth century.

RevDate: 2022-03-30
CmpDate: 2022-03-30

Mutesa L (2022)

A genetic research story of giving back and returning to the country of a thousand hills.

Nature genetics, 54(3):216-218.

RevDate: 2022-03-18
CmpDate: 2022-03-18

Isabella AJ, Leyva-Díaz E, Kaneko T, et al (2021)

The field of neurogenetics: where it stands and where it is going.

Genetics, 218(4):.

RevDate: 2022-03-11
CmpDate: 2022-03-11

Ishihama Y, Chen YJ, Cho JY, et al (2021)

Asia-Oceania HUPO: Past, Present, and Future.

Molecular & cellular proteomics : MCP, 20:100048.

The Asia-Oceania Human Proteome Organization (AOHUPO; was officially founded on June 7, 2001, by Richard J. Simpson (Australia), Akira Tsugita (Japan), and Young-Ki Paik (Korea) and launched on October 1-4, 2001, at the second scientific meeting of the International Proteomics Conference held in Canberra, Australia. Inaugural council members of the AOHUPO elected were Richard J. Simpson (Australia, president), Qi-Chang Xia (China), Kazuyuki Nakamura (Japan), Akira Tsugita (Japan, VIce President), Young-Ki Paik (Korea, secretary general), Mike Hubbard (New Zealand), Max C. M. Chung (Singapore), Shui-Tien Chen (Taiwan), and John Bennett (Philippines). The first AOHUPO conference was held on March 26-27, 2002, at the Seoul National University, Seoul, Korea, conjointly with the second Annual Meeting of KHUPO. Since then, biennial AOHUPO conferences have been held in Taipei (2004), Singapore (2006), Cairns (2008), Hyderabad (2010), Beijing (2012), Bangkok (2014), Sun Moon Lake (2016), and Osaka (2018). The 10th AOHUPO conference is scheduled to be held in Busan on June 30 to July 2, 2021, to celebrate our 20th anniversary.

RevDate: 2022-03-07
CmpDate: 2022-03-07

Passarge E (2021)

Origins of human genetics. A personal perspective.

European journal of human genetics : EJHG, 29(7):1038-1044.

Genetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses. This personal account suggests that the origins of human genetics can best be traced to the years 1949 to 1959. Several genetic scientific advances in genetics in 1949 yielded results directly relating to humans for the first time, except for a few earlier observations. In 1949 the first textbook of human genetics was published, the American Journal of Human Genetics was founded, and in the previous year the American Society of Human Genetics. In 1940 in Britain a textbook entitled Introduction to Medical Genetics served as a foundation for introducing genetic aspects into medicine. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells in 1959 and subsequent years revealed that many human diseases, including cancer, have genetic causes. It became possible to arrive at a precise cause-related genetic diagnosis. As a result the risk of occurrence or re-occurrence of a disease within a family could be assessed correctly. Genetic counseling as a new concept became a basis for improved patient care. Taken together the advances in medically orientated genetic research and patient care since 1949 have resulted in human genetics being both, a basic medical and a basic biological science. Prior to 1949 genetics was not generally viewed in a medical context. Although monogenic human diseases were recognized in 1902, their occurrence and distribution were considered mainly at the population level.

RevDate: 2022-02-25
CmpDate: 2022-02-25

Minari J, Yokono M, Takashima K, et al (2021)

Looking back: three key lessons from 20 years of shaping Japanese genome research regulations.

Journal of human genetics, 66(11):1039-1041.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Freeberg MA, Fromont LA, D'Altri T, et al (2022)

The European Genome-phenome Archive in 2021.

Nucleic acids research, 50(D1):D980-D987.

The European Genome-phenome Archive (EGA - is a resource for long term secure archiving of all types of potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical research projects. Its mission is to foster hosted data reuse, enable reproducibility, and accelerate biomedical and translational research in line with the FAIR principles. Launched in 2008, the EGA has grown quickly, currently archiving over 4,500 studies from nearly one thousand institutions. The EGA operates a distributed data access model in which requests are made to the data controller, not to the EGA, therefore, the submitter keeps control on who has access to the data and under which conditions. Given the size and value of data hosted, the EGA is constantly improving its value chain, that is, how the EGA can contribute to enhancing the value of human health data by facilitating its submission, discovery, access, and distribution, as well as leading the design and implementation of standards and methods necessary to deliver the value chain. The EGA has become a key GA4GH Driver Project, leading multiple development efforts and implementing new standards and tools, and has been appointed as an ELIXIR Core Data Resource.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Lee C, Antonarakis SE, Hamosh A, et al (2021)

Three decades of the Human Genome Organization.

American journal of medical genetics. Part A, 185(11):3314-3321.

The Human Genome Organization (HUGO) was initially established in 1988 to help integrate international scientific genomic activity and to accelerate the diffusion of knowledge from the efforts of the human genome project. Its founding President was Victor McKusick. During the late 1980s and 1990s, HUGO organized lively gene mapping meetings to accurately place genes on the genome as chromosomes were being sequenced. With the completion of the Human Genome Project, HUGO went through some transitions and self-reflection. In 2020, HUGO (which hosts a large annual scientific meeting and comprises the renowned HUGO Gene Nomenclature Committee [HGNC], responsible for naming genes, and an outstanding Ethics Committee) was merged with the Human Genome Variation Society (HGVS; which defines the correct nomenclature for variation description) and the Human Variome Project (HVP; championed by the late Richard Cotton) into a single organization that is committed to assembling human genomic variation from all over the world. This consolidated effort, under a new Executive Board and seven focused committees, will facilitate efficient and effective communication and action to bring the benefits of increasing knowledge of genome diversity and biology to people all over the world.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Puffenberger EG (2021)

Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania.

American journal of medical genetics. Part A, 185(11):3322-3333.

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.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Romeo G, Bobrow M, Ferguson-Smith M, et al (2021)

Victor McKusick and his role in the founding of the European School of Genetic Medicine.

American journal of medical genetics. Part A, 185(11):3253-3258.

Between 1988 and 2007, during the courses of the European School of Genetic Medicine, many of us had the opportunity to appreciate the tolerant and open-minded personality of Victor McKusick. He was gifted with a unique foresight for the innovations introduced into medicine through the development of the Human Genome Project. The aim of our separate contributions in this article is to document how his insights had an important impact on the European medical training system.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Francomano CA (2021)

Victor Almon McKusick: In the footsteps of Mendel and Osler.

American journal of medical genetics. Part A, 185(11):3193-3201.

Victor Almon McKusick (VAM) is widely recognized as the father of the field of medical genetics. He established one of the first medical genetics clinics in the United States at Johns Hopkins in 1957 and developed a robust training program with the tripartite mission of education, research, and clinical care. Thousands of clinicians and scientists were educated over the years through the Short Course in Medical and Molecular Genetics, which VAM founded with Dr. Thomas Roderick in 1960. His Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders, serves as the authoritative reference for geneticists around the globe. Throughout his career he was an advocate for mapping the human genome. He collaborated with Dr. Frank Ruddle in founding the International Human Gene Mapping Workshops in the early 70's and was an avid proponent of the Human Genome Project. He was the founding President of the Human Genome Organization and a founding editor of the journal Genomics. His prodigious contributions to the field of medical genetics were recognized by multiple honors, culminating with the Japan Prize in 2008.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Wray C, Cox G, D Valle (2021)

Victor McKusick and his short course.

American journal of medical genetics. Part A, 185(11):3242-3252.

The Short Course in Human and Mammalian Genetics and Genomics (aka the "Short Course" or the "Bar Harbor course") is one of Victor McKusick's landmark contributions to medical genetics. Conceived in 1959 as a way to increase the contribution of genetic advances to medicine, it has directly affected more than 7000 students and 600 participating faculty from around the world. Now, more than 10 years after his death, it continues to be a vibrant disseminator of genetics, and genomics knowledge for medicine, a catalytic agent for ongoing research and a source of collegiality in our field. What an extraordinary gift!

RevDate: 2022-02-24
CmpDate: 2022-02-24

Rasmussen SA, A Hamosh (2021)

Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction.

American journal of medical genetics. Part A, 185(11):3189-3192.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Scott AF, JS Amberger (2021)

The genes of OMIM: A legacy of Victor McKusick.

American journal of medical genetics. Part A, 185(11):3276-3283.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Hamosh A, Amberger JS, Bocchini C, et al (2021)

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.

American journal of medical genetics. Part A, 185(11):3259-3265.

Victor McKusick's many contributions to medicine are legendary, but his magnum opus is Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their associated genes. The catalog, originally published in 1966 in book form, became available on the internet as Online Mendelian Inheritance in Man (OMIM®) in 1987. The first of 12 editions of MIM included 1486 entries; this number has increased to over 25,000 entries in OMIM as of April 2021, which demonstrates the growth of knowledge about Mendelian phenotypes and their genes through the years. OMIM now has over 20,000 unique users a day, including users from every country in the world. Many of the early decisions made by McKusick, such as to maintain MIM data in a computer-readable format, to separate phenotype entries from those for genes, and to give phenotypes and genes MIM numbers, have proved essential to the long-term utility and flexibility of his catalog. Based on his extensive knowledge of genetics and vision of its future in the field of medicine, he developed a framework for the capture and summary of information from the published literature on phenotypes and their associated genes; this catalog continues to serve as an indispensable resource to the genetics community.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Passarge E (2021)

In Memoriam: "Holstein cows in Holstein." Victor A. McKusick: 40 years of remembrance from Europe.

American journal of medical genetics. Part A, 185(11):3208-3211.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Rasmussen SA, Pomputius A, Amberger JS, et al (2021)

Viewing Victor McKusick's legacy through the lens of his bibliography.

American journal of medical genetics. Part A, 185(11):3212-3223.

Victor McKusick's contributions to the field of medical genetics are legendary and include his contributions as a mentor, as creator of Mendelian Inheritance in Man (now Online Mendelian Inheritance in Man [OMIM®]), and as a leader in the field of medical genetics. McKusick's full bibliography includes 772 publications. Here we review the 453 papers authored by McKusick and indexed in PubMed, from his earliest paper published in the New England Journal of Medicine in 1949 to his last paper published in American Journal of Medical Genetics Part A in 2008. This review of his bibliography chronicles McKusick's evolution from an internist and cardiologist with an interest in genetics to an esteemed leader in the growing field of medical genetics. Review of his bibliography also provides a historical perspective of the development of the discipline of medical genetics. This field came into its own during his lifetime, transitioning from the study of interesting cases and families used to codify basic medical genetics principles to an accredited medical specialty that is expected to transform healthcare. Along the way, he helped to unite the fields of medical and human genetics to focus on mapping the human genome, culminating in completion of the Human Genome Project. This review confirms the critical role played by Victor McKusick as the founding father of medical genetics.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Antonarakis SE (2021)

History of the methodology of disease gene identification.

American journal of medical genetics. Part A, 185(11):3266-3275.

The past 45 years have witnessed a triumph in the discovery of genes and genetic variation that cause Mendelian disorders due to high impact variants. Important discoveries and organized projects have provided the necessary tools and infrastructure for the identification of gene defects leading to thousands of monogenic phenotypes. This endeavor can be divided in three phases in which different laboratory strategies were employed for the discovery of disease-related genes: (i) the biochemical phase, (ii) the genetic linkage followed by positional cloning phase, and (iii) the sequence identification phase. However, much more work is needed to identify all the high impact genomic variation that substantially contributes to the phenotypic variation.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Corson VL, BA Bernhardt (2021)

The evolution of genetic counseling at Johns Hopkins Hospital and beyond.

American journal of medical genetics. Part A, 185(11):3230-3235.

In celebration of the 100th birthday of Dr. Victor A. McKusick, we look back at the history of genetic counseling at Johns Hopkins Hospital and at some milestones for the profession. With the first students graduating from the Human Genetics program at Sarah Lawrence College in 1971, the genetic counseling profession is celebrating its 50th anniversary this year. The profession has seen growth in numbers and scope of practice, the evolution of a national society, the advent of certification and accreditation, the proliferation of graduate programs, the pursuit of state licensure, and collaboration with fellow genetics professionals. Many of the early jobs were at academic centers, such as Johns Hopkins Hospital, while today counselors are employed in a multitude of settings and engaged in a variety of roles.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Ferguson-Smith MA (2021)

Human cytogenetics at Johns Hopkins Hospital, 1959-1962.

American journal of medical genetics. Part A, 185(11):3236-3241.

An account is given of the introduction of human cytogenetics to the Division of Medical Genetics at Johns Hopkins Hospital, and the first 3 years' work of the chromosome diagnostic laboratory that was established at the time. Research on human sex chromosome disorders, including novel discoveries in the Turner and Klinefelter syndromes, is described together with original observations on chromosome behavior at mitosis. It is written in celebration of the centenary of the birth of Victor McKusick, the acknowledged father of Medical Genetics, who established the Division and had the foresight to ensure that it included the investigation of human chromosomes.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Hall JG (2021)

The contributions of careful clinical observations: A legacy.

American journal of medical genetics. Part A, 185(11):3202-3207.

Clinical Medicine is an Art which is learned, together with hard work, as an apprentice-observing how a master works, and improving with experience and exposure. Clinicians are performing multiple things at the same time-trying to make a diagnosis, providing best therapies and preventative strategies, and looking for the underlying mechanism(s). Families want to know what to expect over time-the natural history of their disorder. Rare disease networks and parent support groups are helping in this effort. Information technologies and international collaborative efforts are changing the way clinical genetics is provided.

RevDate: 2022-02-24
CmpDate: 2022-02-24

Migeon BR, HH Kazazian (Jr) (2021)

Reflections on the history of genetic medicine at Johns Hopkins University.

American journal of medical genetics. Part A, 185(11):3224-3229.

Two members of the faculty-who witnessed the birth of Genetic Medicine and remained to see it evolve-present their reflections about the history of genetic medicine at the Johns Hopkins Medical Institutions. They tell how the genetic units in Pediatrics and Medicine that were initiated by Barton Childs and Victor McKusick, respectively, became the McKusick Nathans Department of Genetic Medicine in 2020.

RevDate: 2022-02-23
CmpDate: 2022-02-23

Anonymous (2022)

A very Mendelian year.

Nature genetics, 54(1):1.

RevDate: 2022-02-17
CmpDate: 2022-02-17

Rasmussen SA, A Hamosh (2021)

Memories of Victor A. McKusick.

American journal of medical genetics. Part A, 185(11):3377-3383.

RevDate: 2022-02-17
CmpDate: 2022-02-17

Juengst ET (2021)

Anticipating the ethical, legal, and social implications of human genome research: An ongoing experiment.

American journal of medical genetics. Part A, 185(11):3369-3376.

Dr. Victor McKusick was a founding member of the joint NIH-DOE working group that designed the federal effort to address the ethical, legal, and social implications of the US Human Genome Project in 1989. A key feature of this effort was its commitment to anticipating genomics-driven questions before they became urgent practical dilemmas, by complementing the scientific effort to map and sequence the human genome with projects by a wide range of social scientists, humanities scholars, legal experts, and public educators designed to equip society with the foresight required to optimize the public welfare benefits of new genomic information. This article describes the origins of that experiment and the model of anticipatory science policy that it produced, as one piece of Dr. McKusick's extraordinary intellectual legacy.

RevDate: 2022-02-16
CmpDate: 2022-02-16

Ptushenko VV (2021)

The pushback against state interference in science: how Lysenkoism tried to suppress Genetics and how it was eventually defeated.

Genetics, 219(4):.

Genetics in the Soviet Union (USSR) achieved state-of-the-art results and had reached a peak of development by the mid-1930s due to the efforts of the scientific schools of several major figures, including Sergei Navashin, Nikolai Koltsov, Grigorii Levitsky, Yuri Filipchenko, Nikolai Vavilov, and Solomon Levit. Unfortunately, the Soviet government distrusted intellectually independent science and this led to state support for a fraudulent pseudoscientific concept widely known as Lysenkoism, which hugely damaged biology as a whole. Decades of dominance of the Lysenkoism had ruinous effects and the revival of biology in the USSR in the late 1950s-early 1960s was very difficult. In fact, this was realized to be a problem for Soviet science as a whole, and many mathematicians, physicists, chemists, and other scientists made efforts to rehabilitate genetics and to transfer biology to the "jurisdiction" of science from that of politics. The key events in the history of these attempts to pushback against state interference in science, and to promote the development of genetics and molecular biology, are described in this paper. These efforts included supportive letters to the authorities (e.g., the famous "Letter of three hundred"), (re)publishing articles and giving lectures on "forbidden" science, and organizing laboratories and departments for research in genetics and molecular biology under the cover of nuclear physics or of other projects respected by the government and Communist party leaders. The result was that major figures in the hard sciences played a major part in the revival of genetics and biology in the USSR.

RevDate: 2022-02-14
CmpDate: 2022-02-14

Bagheri N, Carpenter AE, Lundberg E, et al (2022)

The new era of quantitative cell imaging-challenges and opportunities.

Molecular cell, 82(2):241-247.

Quantitative optical microscopy-an emerging, transformative approach to single-cell biology-has seen dramatic methodological advancements over the past few years. However, its impact has been hampered by challenges in the areas of data generation, management, and analysis. Here we outline these technical and cultural challenges and provide our perspective on the trajectory of this field, ushering in a new era of quantitative, data-driven microscopy. We also contrast it to the three decades of enormous advances in the field of genomics that have significantly enhanced the reproducibility and wider adoption of a plethora of genomic approaches.

RevDate: 2022-02-14
CmpDate: 2022-02-14

Škorić D, Černi S, Ćurković-Perica M, et al (2021)

Legacy of Plant Virology in Croatia-From Virus Identification to Molecular Epidemiology, Evolution, Genomics and Beyond.

Viruses, 13(12):.

This paper showcases the development of plant virology in Croatia at the University of Zagreb, Faculty of Science, from its beginning in the 1950s until today, more than 70 years later. The main achievements of the previous and current group members are highlighted according to various research topics and fields. Expectedly, some of those accomplishments remained within the field of plant virology, but others make part of a much-extended research spectrum exploring subviral pathogens, prokaryotic plant pathogens, fungi and their viruses, as well as their interactions within ecosystems. Thus, the legacy of plant virology in Croatia continues to contribute to the state of the art of microbiology far beyond virology. Research problems pertinent for directing the future research endeavors are also proposed in this review.

RevDate: 2022-02-11
CmpDate: 2022-02-11

Anonymous (2022)

The people behind the papers - Chunyan Fang and Xiaoling Tong.

Development (Cambridge, England), 149(2):.

Hox genes play a key role in determining body plan, but previous research indicated that forewing development occurs independently of Antennapedia, the Hox gene expressed in the thoracic region. Now, a new paper in Development describes an essential role for Antennapedia in wing development of silkworm, Drosophila and Tribolium. We caught up with first author, Chunyan Fang, and corresponding author, Xiaoling Tong, a group leader at the State Key Laboratory of Silkworm Genome Biology at Southwest University in China, to find out more about their research.

RevDate: 2022-02-11
CmpDate: 2022-02-11

Stoeger T, LA Nunes Amaral (2022)

The characteristics of early-stage research into human genes are substantially different from subsequent research.

PLoS biology, 20(1):e3001520.

Throughout the last 2 decades, several scholars observed that present day research into human genes rarely turns toward genes that had not already been extensively investigated in the past. Guided by hypotheses derived from studies of science and innovation, we present here a literature-wide data-driven meta-analysis to identify the specific scientific and organizational contexts that coincided with early-stage research into human genes throughout the past half century. We demonstrate that early-stage research into human genes differs in team size, citation impact, funding mechanisms, and publication outlet, but that generalized insights derived from studies of science and innovation only partially apply to early-stage research into human genes. Further, we demonstrate that, presently, genome biology accounts for most of the initial early-stage research, while subsequent early-stage research can engage other life sciences fields. We therefore anticipate that the specificity of our findings will enable scientists and policymakers to better promote early-stage research into human genes and increase overall innovation within the life sciences.

RevDate: 2022-02-11
CmpDate: 2022-02-11

Aviv T, Sicheri F, Bernstein A, et al (2021)

Remembering a pioneer in biotechnology.

Nature, 600(7889):386.

RevDate: 2022-02-03
CmpDate: 2022-02-03

Lakhotia SC (2021)

Dosage compensation in Drosophila in the 1960s: a personal historical perspective.

Journal of genetics, 100:.

Early genetic studies with Drosophila revealed similar mutant phenotypes for many X-linked genes, in males with one and in females with two copies of the mutant allele following the XY/XX mode of sex determination. These observations led to evocation of the phenomenon of dosage compensation. By the 1960s, contrasting theories were advanced by H. J. Muller and R. B. Goldschmidt to explain the equalized expression of many X-linked genes despite their dosage difference in male and female flies. Evidence from genetic studies led Muller to propose existence of many modifiers whose action on individual X-linked genes resulted, through a 'piecemeal' regulation, in equalized expression of the dosage compensated X-linked genes, while Goldschmidt believed that invocation of multiple modifiers or compensators was unnecessary since dosage compensation was a direct outcome of the sex-specific physiologies of male and female flies. Muller did not agree with some cytological studies that suggested that the single X-chromosome in male cells works twice as hard as each of the two X-chromosomes in female cells (hyperactive male X model), but preferred partial repression of each X-chromosome in female flies. This historical perspective relates these divergent theories with my own doctoral work in A. S. Mukherjee's laboratory at Calcutta University, which, while ruling out Golschmidt's sex-physiology theory, established cell-autonomous regulation of the earlier proposed hyperactivity of the single X in male Drosophila in a piecemeal manner.

RevDate: 2022-01-28
CmpDate: 2022-01-28

Nahata KD, Bollen N, Gill MS, et al (2021)

On the Use of Phylogeographic Inference to Infer the Dispersal History of Rabies Virus: A Review Study.

Viruses, 13(8):.

Rabies is a neglected zoonotic disease which is caused by negative strand RNA-viruses belonging to the genus Lyssavirus. Within this genus, rabies viruses circulate in a diverse set of mammalian reservoir hosts, is present worldwide, and is almost always fatal in non-vaccinated humans. Approximately 59,000 people are still estimated to die from rabies each year, leading to a global initiative to work towards the goal of zero human deaths from dog-mediated rabies by 2030, requiring scientific efforts from different research fields. The past decade has seen a much increased use of phylogeographic and phylodynamic analyses to study the evolution and spread of rabies virus. We here review published studies in these research areas, making a distinction between the geographic resolution associated with the available sequence data. We pay special attention to environmental factors that these studies found to be relevant to the spread of rabies virus. Importantly, we highlight a knowledge gap in terms of applying these methods when all required data were available but not fully exploited. We conclude with an overview of recent methodological developments that have yet to be applied in phylogeographic and phylodynamic analyses of rabies virus.

RevDate: 2022-01-27
CmpDate: 2022-01-27

Dason JS, Anreiter I, CF Wu (2021)

Transcending boundaries: from quantitative genetics to single genes.

Journal of neurogenetics, 35(3):95-98.

RevDate: 2022-01-27
CmpDate: 2022-01-27

Pereira HS, Williams KD, JS de Belle (2021)

Marla Sokolowski: and now for someone completely different.

Journal of neurogenetics, 35(3):112-116.

A comprehensive science, technology, engineering, and mathematics (STEM) education has persistent formative effects on individuals, communities, and society. In this regard, Marla Sokolowski's academic legacy will forever reflect her unique contributions to STEM education and mentoring. Furthermore, her creative and multidisciplinary approach to research has resulted in groundbreaking advances in our understanding of behavior genetics. Illustrated here are a few of our life-long learning experiences drawn mainly from earlier parts of Marla's career.

RevDate: 2022-01-27
CmpDate: 2022-01-27

Boyce WT (2021)

Travels with Curly: A personal, collegial tribute to Professor Marla Sokolowski.

Journal of neurogenetics, 35(3):117-118.

Marla Sokolowski's work and humanity has influenced the careers of hundreds, perhaps thousands, of younger scientists. Her fundamental research on the neurogenetic underpinnings of behavior in Drosophila melanogaster is remarkable not only for its scientific brilliance, but for the humility, care, and humor with which it was conducted.

RevDate: 2022-01-27
CmpDate: 2022-01-27

Reiss AP, CH Rankin (2021)

Gaining an understanding of behavioral genetics through studies of foraging in Drosophila and learning in C. elegans.

Journal of neurogenetics, 35(3):119-131.

The pursuit of understanding behavior has led to investigations of how genes, the environment, and the nervous system all work together to produce and influence behavior, giving rise to a field of research known as behavioral neurogenetics. This review focuses on the research journeys of two pioneers of aspects of behavioral neurogenetic research: Dr. Marla Sokolowski and Dr. Catharine Rankin as examples of how different approaches have been used to understand relationships between genes and behavior. Marla Sokolowski's research is centered around the discovery and analysis of foraging, a gene responsible for the natural behavioral polymorphism of Drosophila melanogaster larvae foraging behavior. Catharine Rankin's work began with demonstrating the ability to learn in Caenorhabditis elegans and then setting out to investigate the mechanisms underlying the "simplest" form of learning, habituation. Using these simple invertebrate organisms both investigators were able to perform in-depth dissections of behavior at genetic and molecular levels. By exploring their research and highlighting their findings we present ways their work has furthered our understanding of behavior and contributed to the field of behavioral neurogenetics.

RevDate: 2022-01-27
CmpDate: 2022-01-27

Atwood HL (2021)

Marla Sokolowski Retrospectively.

Journal of neurogenetics, 35(3):107-109.

Marla Sokolowski's scientific achievements established her as an internationally recognized leader in behavioural genetics. As a graduate student, she made a significant discovery while observing natural populations of the fruit fly, Drosophila melanogaster: the larvae exhibited a behavioural polymorphism which she traced to alleles of a single gene. Some larvae were 'sitters' which fed in a restricted location, while others were 'rovers' which ranged more widely in feeding. The gene in question, foraging, codes for a cyclic GMP kinase which is expressed in numerous locations throughout larval and adult Drosophila. Building on this foundation, she and her students have elucidated the genetic and environmental factors that account for individual differences in behaviour. In this article, I review significant stages of her scientific career.

RevDate: 2022-01-27
CmpDate: 2022-01-27

Sokolowski AB (2021)

The long view: a spouse's perspective.

Journal of neurogenetics, 35(3):99-100.

RevDate: 2022-01-27
CmpDate: 2022-01-27

Sokolowski HM (2021)

Women in science: a daughter's perspective.

Journal of neurogenetics, 35(3):101-103.

In the first grade, in one of my first classes, my teacher read us a story about a scientist. To my utter shock, the scientist was a man. After the story, I asked the teacher, 'can men be scientists?' She looked at me, bewildered, and replied: 'of course, anyone can be a scientist.' It was not until later that my teacher learned that my mother is a scientist, and the only scientists I had ever met were women, like me.

RevDate: 2022-01-27
CmpDate: 2022-01-27

Greenspan RJ (2021)

Learning about quantitative genetics from Marla Sokolowski.

Journal of neurogenetics, 35(3):110-111.

Marla Sokolowski is a true pioneer in behavioral genetics, having made the first molecular delineation of a naturally occurring behavioral polymorphism in her work on the foraging locus in Drosophila melanogaster. The gene was subsequently found to be responsible for behavioral variants and types in many other species, both invertebrate and mammal (human). The path to get there is a paradigmatic example of how to use the power of genetic analysis, including some rather esoteric techniques, to zero in on a gene and delineate its molecular identity and its pleiotropic roles.

RevDate: 2022-01-27
CmpDate: 2022-01-27

Sokolowski DJ (2021)

Women in science: a son's perspective.

Journal of neurogenetics, 35(3):104-106.

I am often asked how our mother inspired my sister Moriah and me to want to become scientists. She never directly suggested we should go down that path. Instead, she shared the aspects of the natural world, that she loved, with us while keeping the non-science aspects of her job separate from our lives at home. Now, I have learned that her perspective provides insights that spark innovative discoveries, some of which challenged the status quo. Her passion for research has allowed her to pursue what she believes to be worth studying. Her personality and collaborative nature allow her to be teased at home, facilitate a room of diverse opinions, and command a hall of hundreds of people. Her respect for those around her is inspiring. My mom's trust in her trainees and collaborators allows her to answer questions that could fundamentally not be answered had she pigeonholed herself to a single field. She managed to accomplish everything while being nothing other than my mom to me, and I am so glad that I am growing into a person who can truly appreciate the woman she is to everyone else.

RevDate: 2022-01-21
CmpDate: 2022-01-21

Diepenbroek M, Amory C, Niederstätter H, et al (2021)

Genetic and phylogeographic evidence for Jewish Holocaust victims at the Sobibór death camp.

Genome biology, 22(1):200.

Six million Jews were killed by Nazi Germany and its collaborators during World War II. Archaeological excavations in the area of the death camp in Sobibór, Poland, revealed ten sets of human skeletal remains presumptively assigned to Polish victims of the totalitarian regimes. However, their genetic analyses indicate that the remains are of Ashkenazi Jews murdered as part of the mass extermination of European Jews by the Nazi regime and not of otherwise hypothesised non-Jewish partisan combatants. In accordance with traditional Jewish rite, the remains were reburied in the presence of a Rabbi at the place of their discovery.

RevDate: 2022-01-26
CmpDate: 2022-01-26

Azzi A, WJ Whelan (2021)

The history of IUBMB Life (1980-2020).

IUBMB life, 73(6):818-824.

RevDate: 2022-01-25
CmpDate: 2022-01-25

Kaback HR (2021)

It's Better To Be Lucky Than Smart.

Annual review of biochemistry, 90:1-29.

Bacterial cytoplasmic membrane vesicles provide a unique experimental system for studying active transport. Vesicles are prepared by lysis of osmotically sensitized cells (i.e., protoplasts or spheroplasts) and comprise osmotically intact, unit-membrane-bound sacs that are approximately 0.5-1.0 μm in diameter and devoid of internal structure. Their metabolic activities are restricted to those provided by the enzymes of the membrane itself, and each vesicle is functional. The energy source for accumulation of a particular substrate can be determined by studying which compounds or experimental conditions drive solute accumulation, and metabolic conversion of the transported substrate or the energy source is minimal. These properties of the vesicle system constitute a considerable advantage over intact cells, as the system provides clear definition of the reactions involved in the transport process. This discussion is not intended as a general review but is concerned with respiration-dependent active transport in membrane vesicles from Escherichia coli. Emphasis is placed on experimental observations demonstrating that respiratory energy is converted primarily into work in the form of a solute concentration gradient that is driven by a proton electrochemical gradient, as postulated by the chemiosmotic theory of Peter Mitchell.

RevDate: 2022-01-20
CmpDate: 2022-01-20

D'Cunha Burkardt D, Sanchez-Lara PA, Girisha KM, et al (2021)

A celebration in honor of John M. Graham, Jr, MD, ScD.

American journal of medical genetics. Part A, 185(9):2617-2619.

RevDate: 2022-01-20
CmpDate: 2022-01-20

Miller M (2021)

The Dysmorphology Unit from 1976 to 1980: Fleeting fellow, deformations, and John Graham.

American journal of medical genetics. Part A, 185(9):2622-2626.

RevDate: 2022-01-20
CmpDate: 2022-01-20

Graham JM (Jr) (2021)

Reflections on a career in dysmorphology, teratology, and clinical genetics.

American journal of medical genetics. Part A, 185(9):2620-2621.

RevDate: 2022-01-14
CmpDate: 2022-01-14

Melero-Martin JM, Dudley AC, AW Griffioen (2021)

Adieu to parting Editor in Chief and pioneering scientist Dr. Joyce Bischoff.

Angiogenesis, 24(2):191-193.

RevDate: 2022-01-12
CmpDate: 2022-01-12

Abbasi J (2021)

After 12 Years, NIH Director Francis S. Collins Seeks His Next Chapter.

JAMA, 326(23):2349-2352.

RevDate: 2022-01-04
CmpDate: 2022-01-04

Almarri MA, Haber M, Lootah RA, et al (2021)

The genomic history of the Middle East.

Cell, 184(18):4612-4625.e14.

The Middle East region is important to understand human evolution and migrations but is underrepresented in genomic studies. Here, we generated 137 high-coverage physically phased genome sequences from eight Middle Eastern populations using linked-read sequencing. We found no genetic traces of early expansions out-of-Africa in present-day populations but found Arabians have elevated Basal Eurasian ancestry that dilutes their Neanderthal ancestry. Population sizes within the region started diverging 15-20 kya, when Levantines expanded while Arabians maintained smaller populations that derived ancestry from local hunter-gatherers. Arabians suffered a population bottleneck around the aridification of Arabia 6 kya, while Levantines had a distinct bottleneck overlapping the 4.2 kya aridification event. We found an association between movement and admixture of populations in the region and the spread of Semitic languages. Finally, we identify variants that show evidence of selection, including polygenic selection. Our results provide detailed insights into the genomic and selective histories of the Middle East.

RevDate: 2021-12-29
CmpDate: 2021-12-29

Allen KN, CP Whitman (2021)

The Birth of Genomic Enzymology: Discovery of the Mechanistically Diverse Enolase Superfamily.

Biochemistry, 60(46):3515-3528.

Enzymes are categorized into superfamilies by sequence, structural, and mechanistic similarities. The evolutionary implications can be profound. Until the mid-1990s, the approach was fragmented largely due to limited sequence and structural data. However, in 1996, Babbitt et al. published a paper in Biochemistry that demonstrated the potential power of mechanistically diverse superfamilies to identify common ancestry, predict function, and, in some cases, predict specificity. This Perspective describes the findings of the original work and reviews the current understanding of structure and mechanism in the founding family members. The outcomes of the genomic enzymology approach have reached far beyond the functional assignment of members of the enolase superfamily, inspiring the study of superfamilies and the adoption of sequence similarity networks and genome context and yielding fundamental insights into enzyme evolution.

RevDate: 2021-12-28
CmpDate: 2021-12-28

Byeon YJJ, Islamaj R, Yeganova L, et al (2021)

Evolving use of ancestry, ethnicity, and race in genetics research-A survey spanning seven decades.

American journal of human genetics, 108(12):2215-2223.

To inform continuous and rigorous reflection about the description of human populations in genomics research, this study investigates the historical and contemporary use of the terms "ancestry," "ethnicity," "race," and other population labels in The American Journal of Human Genetics from 1949 to 2018. We characterize these terms' frequency of use and assess their odds of co-occurrence with a set of social and genetic topical terms. Throughout The Journal's 70-year history, "ancestry" and "ethnicity" have increased in use, appearing in 33% and 26% of articles in 2009-2018, while the use of "race" has decreased, occurring in 4% of articles in 2009-2018. Although its overall use has declined, the odds of "race" appearing in the presence of "ethnicity" has increased relative to the odds of occurring in its absence. Forms of population descriptors "Caucasian" and "Negro" have largely disappeared from The Journal (<1% of articles in 2009-2018). Conversely, the continental labels "African," "Asian," and "European" have increased in use and appear in 18%, 14%, and 42% of articles from 2009-2018, respectively. Decreasing uses of the terms "race," "Caucasian," and "Negro" are indicative of a transition away from the field's history of explicitly biological race science; at the same time, the increasing use of "ancestry," "ethnicity," and continental labels should serve to motivate ongoing reflection as the terminology used to describe genetic variation continues to evolve.

RevDate: 2021-12-20
CmpDate: 2021-12-20

Pederson T (2021)

Francis S. Collins: Transformer and translator for NIH.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 35(12):e22022.

RevDate: 2021-12-17
CmpDate: 2021-12-17

Burgess RR (2021)

What is in the black box? The discovery of the sigma factor and the subunit structure of E. coli RNA polymerase.

The Journal of biological chemistry, 297(5):101310.

This Reflections article is focused on the 5 years while I was a graduate student (1964-1969). During this period, I made some of the most significant discoveries of my career. I have written this article primarily for a protein biochemistry audience, my colleagues who shared this exciting time in science, and the many scientists over the last 50 years who have contributed to our knowledge of transcriptional machinery and their regulation. It is also written for today's graduate students, postdocs, and scientists who may not know much about the discoveries and technical advances that are now taken for granted, to show that even with methods primitive by today's standards, we were still able to make foundational advances. I also hope to provide a glimpse into how fortunate I was to be a graduate student over 50 years ago in the golden age of molecular biology.

RevDate: 2021-12-14
CmpDate: 2021-12-06

Ravindran S (2021)

Profile of Patrick Cramer.

Proceedings of the National Academy of Sciences of the United States of America, 118(30):.

RevDate: 2021-12-14
CmpDate: 2021-12-03

Viegas J (2021)

Profile of Claude Desplan.

Proceedings of the National Academy of Sciences of the United States of America, 118(28):.

RevDate: 2021-12-14
CmpDate: 2021-12-03

Davis TH (2021)

Profile of Scott Edwards.

Proceedings of the National Academy of Sciences of the United States of America, 118(21):.

RevDate: 2021-12-14
CmpDate: 2021-12-06

Pehlivanoglu B, Aysal A, Kececi SD, et al (2021)

A Nobel-Winning Scientist: Aziz Sancar and the Impact of his Work on the Molecular Pathology of Neoplastic Diseases.

Turk patoloji dergisi, 37(2):93-105.

Aziz Sancar, Nobel Prize winning Turkish scientist, made several discoveries which had a major impact on molecular sciences, particularly disciplines that focus on carcinogenesis and cancer treatment, including molecular pathology. Cloning the photolyase gene, which was the initial step of his work on DNA repair mechanisms, discovery of the "Maxicell" method, explanation of the mechanism of nucleotide excision repair and transcription-coupled repair, discovery of "molecular matchmakers", and mapping human excision repair genes at single nucleotide resolution constitute his major research topics. Moreover, Sancar discovered the cryptochromes, the clock genes in humans, in 1998, and this discovery led to substantial progress in the understanding of the circadian clock and the introduction of the concept of "chrono-chemoterapy" for more effective therapy in cancer patients. This review focuses on Aziz Sancar's scientific studies and their reflections on molecular pathology of neoplastic diseases. While providing a new perspective for researchers working in the field of pathology and molecular pathology, this review is also an evidence of how basic sciences and clinical sciences complete each other.

RevDate: 2021-12-14
CmpDate: 2021-12-13

Cabrera VM (2021)

Human molecular evolutionary rate, time dependency and transient polymorphism effects viewed through ancient and modern mitochondrial DNA genomes.

Scientific reports, 11(1):5036.

Human evolutionary genetics gives a chronological framework to interpret the human history. It is based on the molecular clock hypothesis that suppose a straightforward relationship between the mutation rate and the substitution rate with independence of other factors as demography dynamics. Analyzing ancient and modern human complete mitochondrial genomes we show here that, along the time, the substitution rate can be significantly slower or faster than the average germline mutation rate confirming a time dependence effect mainly attributable to changes in the effective population size of the human populations, with an exponential growth in recent times. We also detect that transient polymorphisms play a slowdown role in the evolutionary rate deduced from haplogroup intraspecific trees. Finally, we propose the use of the most divergent lineages within haplogroups as a practical approach to correct these molecular clock mismatches.

RevDate: 2021-12-14
CmpDate: 2021-12-13

Tsagakis I, Vertessy B, D Wright (2021)

An open chat with…Beáta Vertessy.

FEBS open bio, 11(2):338-339.

RevDate: 2021-11-29
CmpDate: 2021-11-29

Eve A (2021)

Transitions in development - an interview with Tom Nowakowski.

Development (Cambridge, England), 148(19):.

Tom Nowakowski is an Assistant Professor at University of California San Francisco (UCSF), where he uses single-cell sequencing technologies to study neurodevelopment. He is also a Chan Zuckerberg Biohub Investigator and a Next Generation Leader at the Allen Institute for Brain Science. We met with Tom over Zoom to hear more about his career, his transition to becoming a group leader and his plans for the future.

RevDate: 2021-11-29
CmpDate: 2021-11-29

Ahmed F (2021)

Profile of Howard Y. Chang.

Proceedings of the National Academy of Sciences of the United States of America, 118(15):.

RevDate: 2021-11-29
CmpDate: 2021-11-29

Borovik A (2021)

A mathematician's view of the unreasonable ineffectiveness of mathematics in biology.

Bio Systems, 205:104410.

This paper discusses, from a mathematician's point of view, the thesis formulated by Israel Gelfand, one of the greatest mathematicians of the 20th century, and one of the pioneers of mathematical biology, about the unreasonable ineffectiveness of mathematics in biology as compared with the obvious success of mathematics in physics. The author discusses the limitations of the mainstream mathematics of today when it is used in biology. He suggests that some emerging directions in mathematics have potential to enhance the role of mathematics in biology.

RevDate: 2021-11-29
CmpDate: 2021-11-29

de la Vega CG, Gómez R, Page J, et al (2021)

Julio S. Rufas: A true chromosome lover.

Chromosoma, 130(1):1-2.

RevDate: 2021-11-29
CmpDate: 2021-11-29

Valdebenito J, F Medina (2019)

Machine learning approaches to study glioblastoma: A review of the last decade of applications.

Cancer reports (Hoboken, N.J.), 2(6):e1226.

BACKGROUND: Glioblastoma (GB, formally glioblastoma multiforme) is a malignant type of brain cancer that currently has no cure and is characterized by being highly heterogeneous with high rates of re-incidence and therapy resistance. Thus, it is urgent to characterize the mechanisms of GB pathogenesis to help researchers identify novel therapeutic targets to cure this devastating disease. Recently, a promising approach to identifying novel therapeutic targets is the integration of tumor omics data with clinical information using machine learning (ML) techniques.

RECENT FINDINGS: ML has become a valuable addition to the researcher's toolbox, thanks to its flexibility, multidimensional approach, and a growing community of users. The goal of this review is to introduce basic concepts and applications of ML for studying GB to clinicians and practitioners who are new to data science. ML applications include exploring large data sets, finding new relevant patterns, predicting outcomes, or merely understanding associations of the complex molecular networks presented within the tumor. Here, we review ML applications published between 2008 and 2018 and discuss ML strategies intending to identify new potential therapeutic targets to improve the management and treatment of GB.

CONCLUSIONS: ML applications to study GB vary in purpose and complexity, with positive results. In GB studies, ML is often used to analyze high-dimensional datasets with prediction or classification as a primary goal. Despite the strengths of ML techniques, they are not fail-safe and methodological issues can occur in GB studies that use them. This is why researchers need to be aware of these issues when planning and appraising studies that apply ML to the study of GB.

RevDate: 2021-11-22
CmpDate: 2021-11-22

Ikle JM, AL Gloyn (2021)

100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function.

The Journal of endocrinology, 250(3):R23-R35 pii:JOE-21-0067.

Since the discovery of insulin 100 years ago, our knowledge and understanding of diabetes have grown exponentially. Specifically, with regards to the genetics underlying diabetes risk, our discoveries have paralleled developments in our understanding of the human genome and our ability to study genomics at scale; these advancements in genetics have both accompanied and led to those in diabetes treatment. This review will explore the timeline and history of gene discovery and how this has coincided with progress in the fields of genomics. Examples of genetic causes of monogenic diabetes are presented and the continuing expansion of allelic series in these genes and the challenges these now cause for diagnostic interpretation along with opportunities for patient stratification are discussed.

RevDate: 2021-11-16
CmpDate: 2021-11-16

Monckton DG (2021)

The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington's Disease: A Historical Perspective.

Journal of Huntington's disease, 10(1):7-33.

The discovery in the early 1990s of the expansion of unstable simple sequence repeats as the causative mutation for a number of inherited human disorders, including Huntington's disease (HD), opened up a new era of human genetics and provided explanations for some old problems. In particular, an inverse association between the number of repeats inherited and age at onset, and unprecedented levels of germline instability, biased toward further expansion, provided an explanation for the wide symptomatic variability and anticipation observed in HD and many of these disorders. The repeats were also revealed to be somatically unstable in a process that is expansion-biased, age-dependent and tissue-specific, features that are now increasingly recognised as contributory to the age-dependence, progressive nature and tissue specificity of the symptoms of HD, and at least some related disorders. With much of the data deriving from affected individuals, and model systems, somatic expansions have been revealed to arise in a cell division-independent manner in critical target tissues via a mechanism involving key components of the DNA mismatch repair pathway. These insights have opened new approaches to thinking about how the disease could be treated by suppressing somatic expansion and revealed novel protein targets for intervention. Exciting times lie ahead in turning these insights into novel therapies for HD and related disorders.

RevDate: 2021-11-02
CmpDate: 2021-11-02

Anonymous (2020)

Society for Glycobiology Awards-2020.

Glycobiology, 30(12):936-940.

RevDate: 2021-10-27
CmpDate: 2021-10-27

Jordan B (2021)

[CRISPR Nobel, at last…].

Medecine sciences : M/S, 37(1):77-80.

The 2020 Nobel Prize in chemistry rewards two brilliant scientists who have followed quite different career paths but have collaborated very successfully. Of course, the history of the CRISPR system is complex and involves many other individuals, but their contribution has been essential. It is difficult to overstate the importance of this system for the functional interpretation of massive genome data as well as for (sometimes problematic) clinical applications.

RevDate: 2021-10-26
CmpDate: 2021-10-26

Loison L (2021)

Epigenetic inheritance and evolution: a historian's perspective.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 376(1826):20200120.

The aim of this article is to put the growing interest in epigenetics in the field of evolutionary theory into a historical context. First, I assess the view that epigenetic inheritance could be seen as vindicating a revival of (neo)Lamarckism. Drawing on Jablonka's and Lamb's considerable output, I identify several differences between modern epigenetics and what Lamarckism was in the history of science. Even if Lamarckism is not back, epigenetic inheritance might be appealing for evolutionary biologists because it could potentiate two neglected mechanisms: the Baldwin effect and genetic assimilation. Second, I go back to the first ideas about the Baldwin effect developed in the late nineteenth century to show that the efficiency of this mechanism was already linked with a form of non-genetic inheritance. The opposition to all forms of non-genetic inheritance that prevailed at the time of the rise of the Modern Synthesis helps to explain why the Baldwin effect was understood as an insignificant mechanism during the second half of the twentieth century. Based on this historical reconstruction, in §4, I examine what modern epigenetics can bring to the picture and under what conditions epigenetic inheritance might be seen as strengthening the causal relationship between adaptability and adaptation. Throughout I support the view that the Baldwin effect and genetic assimilation, even if they are quite close, should not be conflated, and that drawing a line between these concepts is helpful in order to better understand where epigenetic inheritance might endorse a new causal role. This article is part of the theme issue 'How does epigenetics influence the course of evolution?'

RevDate: 2021-10-22
CmpDate: 2021-10-22

Batista FD (2021)

In conversation with the Chief Editor.

The EMBO journal, 40(8):e108116.

An interview with Facundo D Batista, The EMBO Journal new Editor-in-Chief.

RevDate: 2021-10-20
CmpDate: 2021-10-20

Cooper KL (2021)

In the Spotlight-Early Career Researcher.

Journal of experimental zoology. Part B, Molecular and developmental evolution, 336(5):391-392.

RevDate: 2021-10-20
CmpDate: 2021-10-20

Mendenhall AR, Lithgow GJ, Kim S, et al (2021)

Career Retrospective: Tom Johnson-Genetics, Genomics, Stress, Stochastic Variation, and Aging.

The journals of gerontology. Series A, Biological sciences and medical sciences, 76(7):e85-e91.

RevDate: 2021-10-12
CmpDate: 2021-10-12

Hanawalt PC, Samson LD, B Van Houten (2021)

The life and legacy of Sam Wilson (1939-2021).

DNA repair, 104:103138.

RevDate: 2021-10-04
CmpDate: 2021-10-04

Sollid LM, Lundin KEA, Leivestad T, et al (2021)

Erik Thorsby (1938-2021).

Immunogenetics, 73(3):203-205.

RevDate: 2021-10-04
CmpDate: 2021-10-04

Wynshaw-Boris A (2021)

EDITORIAL: 'An Improbable Fifteen Years as Executive Editor'.

Human molecular genetics, 30(1):1-2.

RevDate: 2021-09-30
CmpDate: 2021-09-30

Jackson L, Tsosie KS, K Fox (2021)

Changing the wrapping won't fix genetic-racism package.

Nature, 597(7877):475.

RevDate: 2021-09-30
CmpDate: 2021-09-30

Aneli S, Caldon M, Saupe T, et al (2021)

Through 40,000 years of human presence in Southern Europe: the Italian case study.

Human genetics, 140(10):1417-1431.

The Italian Peninsula, a natural pier across the Mediterranean Sea, witnessed intricate population events since the very beginning of the human occupation in Europe. In the last few years, an increasing number of modern and ancient genomes from the area have been published by the international research community. This genomic perspective started unveiling the relevance of Italy to understand the post-Last Glacial Maximum (LGM) re-peopling of Europe, the earlier phase of the Neolithic westward migrations, and its linking role between Eastern and Western Mediterranean areas after the Iron Age. However, many open questions are still waiting for more data to be addressed in full. With this review, we summarize the current knowledge emerging from the available ancient Italian individuals and, by re-analysing them all at once, we try to shed light on the avenues future research in the area should cover. In particular, open questions concern (1) the fate of pre-Villabruna Europeans and to what extent their genomic components were absorbed by the post-LGM hunter-gatherers; (2) the role of Sicily and Sardinia before LGM; (3) to what degree the documented genetic structure within the Early Neolithic settlers can be described as two separate migrations; (4) what are the population events behind the marked presence of an Iranian Neolithic-like component in Bronze Age and Iron Age Italian and Southern European samples.

RevDate: 2021-09-28
CmpDate: 2021-09-28

FEBS Journal Editorial Team, A Heck (2021)

Editor Profile: Albert Heck.

The FEBS journal, 288(18):5228-5230.

In this special interview series, we profile members of The FEBS Journal editorial board to highlight their research and perspectives on the journal and more. Albert Heck is Professor of Chemistry and Pharmaceutical Sciences at Utrecht University, Scientific Director of the Netherlands Proteomics Center, and Head of the Biomolecular Mass Spectrometry and Proteomics group in Utrecht University since September 1998. He has served as Editorial Board Member of The FEBS Journal since 2020.

RevDate: 2021-09-23
CmpDate: 2021-09-23

Dorado G, Gálvez S, Rosales TE, et al (2021)

Analyzing Modern Biomolecules: The Revolution of Nucleic-Acid Sequencing - Review.

Biomolecules, 11(8):.

Recent developments have revolutionized the study of biomolecules. Among them are molecular markers, amplification and sequencing of nucleic acids. The latter is classified into three generations. The first allows to sequence small DNA fragments. The second one increases throughput, reducing turnaround and pricing, and is therefore more convenient to sequence full genomes and transcriptomes. The third generation is currently pushing technology to its limits, being able to sequence single molecules, without previous amplification, which was previously impossible. Besides, this represents a new revolution, allowing researchers to directly sequence RNA without previous retrotranscription. These technologies are having a significant impact on different areas, such as medicine, agronomy, ecology and biotechnology. Additionally, the study of biomolecules is revealing interesting evolutionary information. That includes deciphering what makes us human, including phenomena like non-coding RNA expansion. All this is redefining the concept of gene and transcript. Basic analyses and applications are now facilitated with new genome editing tools, such as CRISPR. All these developments, in general, and nucleic-acid sequencing, in particular, are opening a new exciting era of biomolecule analyses and applications, including personalized medicine, and diagnosis and prevention of diseases for humans and other animals.

RevDate: 2021-09-01
CmpDate: 2021-09-01

Anonymous (2021)

Meet the authors: Michael Ranes and Sebastian Guettler.

Molecular cell, 81(16):3237-3240.

We talk to first and last authors Michael Ranes and Sebastian Guettler about their paper, "Reconstitution of the destruction complex defines roles of AXIN polymers and APC in β-catenin capture, phosphorylation, and ubiquitylation," how questions at conferences drove the work, the research in the Guettler lab, and Michael's experience as a Black scientist and his hopes for the future.

RevDate: 2021-09-01
CmpDate: 2021-09-01

Anonymous (2021)

The power of perpetual collaboration: An interview with Elçin Ünal and Gloria Brar.

Molecular cell, 81(16):3229-3236.

Here, Elçin Ünal and Gloria Brar tell us how the Br-Ün Lab came to be, the cons, but mostly the pros, of running a joint lab and things to consider, as well as their philosophies in research and mentoring a diverse group of scientists.

RevDate: 2021-08-26
CmpDate: 2021-08-26

FEBS Journal Editorial Team, B Derry (2021)

Editor Profile: Brent Derry.

The FEBS journal, 288(15):4435-4438.

In this special interview series, we profile members of The FEBS Journal editorial board to highlight their research focus and perspectives on the journal and future directions in their field. Brent Derry is Professor at the Department of Molecular Genetics of University of Toronto and Senior Scientist of the Developmental & Stem Cell Biology Program at The Hospital for Sick Children (Toronto, Canada). He has served as an editorial board member of The FEBS Journal since 2017.

RevDate: 2021-08-26
CmpDate: 2021-08-26

The Febs Journal Editorial Team , H Lee (2021)

Editor Profile: Hyunsook Lee.

The FEBS journal, 288(15):4439-4441.

In this special interview series, we profile members of The FEBS Journal editorial board to highlight their research focus, perspectives on the journal and future directions in their field. Hyunsook Lee is Professor at the Laboratory of Cancer Cell Biology at Seoul National University in Korea. She has served as an editorial board member of The FEBS Journal since 2018.

RevDate: 2021-08-03
CmpDate: 2021-08-03

Minor W, Jaskolski M, Martin SJ, et al (2021)

Dr. Alexander Wlodawer-celebrating five decades of service to the structural biology community.

The FEBS journal, 288(14):4160-4164.

This 75th birthday tribute to our Editorial Board member Alexander Wlodawer recounts his decades-long service to the community of structural biology researchers. His former and current colleagues tell the story of his upbringing and education, followed by an account of his dedication to quality and rigor in crystallography and structural science. The FEBS Journal Editor-in-Chief Seamus Martin further highlights Alex's outstanding contributions to the journal's success over many years.


ESP Quick Facts

ESP Origins

In the early 1990's, Robert Robbins was a faculty member at Johns Hopkins, where he directed the informatics core of GDB — the human gene-mapping database of the international human genome project. To share papers with colleagues around the world, he set up a small paper-sharing section on his personal web page. This small project evolved into The Electronic Scholarly Publishing Project.

ESP Support

In 1995, Robbins became the VP/IT of the Fred Hutchinson Cancer Research Center in Seattle, WA. Soon after arriving in Seattle, Robbins secured funding, through the ELSI component of the US Human Genome Project, to create the original ESP.ORG web site, with the formal goal of providing free, world-wide access to the literature of classical genetics.

ESP Rationale

Although the methods of molecular biology can seem almost magical to the uninitiated, the original techniques of classical genetics are readily appreciated by one and all: cross individuals that differ in some inherited trait, collect all of the progeny, score their attributes, and propose mechanisms to explain the patterns of inheritance observed.

ESP Goal

In reading the early works of classical genetics, one is drawn, almost inexorably, into ever more complex models, until molecular explanations begin to seem both necessary and natural. At that point, the tools for understanding genome research are at hand. Assisting readers reach this point was the original goal of The Electronic Scholarly Publishing Project.

ESP Usage

Usage of the site grew rapidly and has remained high. Faculty began to use the site for their assigned readings. Other on-line publishers, ranging from The New York Times to Nature referenced ESP materials in their own publications. Nobel laureates (e.g., Joshua Lederberg) regularly used the site and even wrote to suggest changes and improvements.

ESP Content

When the site began, no journals were making their early content available in digital format. As a result, ESP was obliged to digitize classic literature before it could be made available. For many important papers — such as Mendel's original paper or the first genetic map — ESP had to produce entirely new typeset versions of the works, if they were to be available in a high-quality format.

ESP Help

Early support from the DOE component of the Human Genome Project was critically important for getting the ESP project on a firm foundation. Since that funding ended (nearly 20 years ago), the project has been operated as a purely volunteer effort. Anyone wishing to assist in these efforts should send an email to Robbins.

ESP Plans

With the development of methods for adding typeset side notes to PDF files, the ESP project now plans to add annotated versions of some classical papers to its holdings. We also plan to add new reference and pedagogical material. We have already started providing regularly updated, comprehensive bibliographies to the ESP.ORG site.

Electronic Scholarly Publishing
961 Red Tail Lane
Bellingham, WA 98226

E-mail: RJR8222 @

Papers in Classical Genetics

The ESP began as an effort to share a handful of key papers from the early days of classical genetics. Now the collection has grown to include hundreds of papers, in full-text format.

Digital Books

Along with papers on classical genetics, ESP offers a collection of full-text digital books, including many works by Darwin (and even a collection of poetry — Chicago Poems by Carl Sandburg).


ESP now offers a much improved and expanded collection of timelines, designed to give the user choice over subject matter and dates.


Biographical information about many key scientists.

Selected Bibliographies

Bibliographies on several topics of potential interest to the ESP community are now being automatically maintained and generated on the ESP site.

ESP Picks from Around the Web (updated 07 JUL 2018 )