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Bibliography on: History of Genetics

The Electronic Scholarly Publishing Project: Providing world-wide, free access to classic scientific papers and other scholarly materials, since 1993.


ESP: PubMed Auto Bibliography 17 Sep 2021 at 01:34 Created: 

History of Genetics

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

Citations The Papers (from PubMed®)


RevDate: 2021-09-13
CmpDate: 2021-09-13

Conti AA (2021)

"A hundred years since the birth of Rosalind Elsie Franklin, a brilliant and gifted scientist".

Internal and emergency medicine, 16(2):531-532.

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

Lipshitz HD (2021)

The Descent of Databases.

Genetics, 217(3):.

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: 2021-08-23
CmpDate: 2021-08-23

Fernández-Medarde A, De Las Rivas J, E Santos (2021)

40 Years of RAS-A Historic Overview.

Genes, 12(5):.

It has been over forty years since the isolation of the first human oncogene (HRAS), a crucial milestone in cancer research made possible through the combined efforts of a few selected research groups at the beginning of the 1980s. Those initial discoveries led to a quantitative leap in our understanding of cancer biology and set up the onset of the field of molecular oncology. The following four decades of RAS research have produced a huge pool of new knowledge about the RAS family of small GTPases, including how they regulate signaling pathways controlling many cellular physiological processes, or how oncogenic mutations trigger pathological conditions, including developmental syndromes or many cancer types. However, despite the extensive body of available basic knowledge, specific effective treatments for RAS-driven cancers are still lacking. Hopefully, recent advances involving the discovery of novel pockets on the RAS surface as well as highly specific small-molecule inhibitors able to block its interaction with effectors and/or activators may lead to the development of new, effective treatments for cancer. This review intends to provide a quick, summarized historical overview of the main milestones in RAS research spanning from the initial discovery of the viral RAS oncogenes in rodent tumors to the latest attempts at targeting RAS oncogenes in various human cancers.

RevDate: 2021-08-23
CmpDate: 2021-08-23

Araújo Neto LA, LA Teixeira (2020)

New problems of a new health system: the creation of a national public policy of rare diseases care in Brazil (1990s-2010s).

Salud colectiva, 16:e2210.

This study discusses actors and institution movements leading to the disclosure in 2014 of Resolution 199 by the Brazilian Ministry of Health, which establishes the National Policy for the Comprehensive Care of Persons with Rare Diseases. Taking as sources the mainstream newspapers, drafts law, and secondary literature on the subject, we begin our analysis in the early 1990s when the first patient associations were created in Brazil - mainly for claiming more funds for research on genetic diseases - and arrive at the late 2010s when negotiations for a national policy are taking place in the National Congress. Resolution 199 is part of an ongoing process and the path towards its disclosure and the complications that followed have given us elements to discuss contemporary aspects of the Brazilian public health. Based on the references of the history of the present time and the social studies of science, we argue that two aspects have been fundamental to creating a national policy: framing different illnesses within the terminology "rare diseases" and the construction of a public perception about the right of health which is guaranteed by the 1988 Brazilian Constitution.

RevDate: 2021-08-19
CmpDate: 2021-08-19

McGovern MF (2021)

Genes go digital: Mendelian Inheritance in Man and the genealogy of electronic publishing in biomedicine.

British journal for the history of science, 54(2):213-231.

Mendelian Inheritance in Man (MIM), a computerized catalogue of human genetic disorders authored and maintained by cardiologist and medical genetics pioneer Victor A. McKusick, played a major part in demarcating between a novel biomedical science and the eugenic projects of racial betterment which existed prior to its emergence. Nonetheless, it built upon prior efforts to systematize genetic knowledge tied to individuals and institutions invested in eugenics. By unpacking the process of digitizing a homespun cataloguing project and charting its development into an online database, this article aims to illuminate how the institution-building efforts of one individual created an 'information order' for accessing genetic information that tacitly shaped the norms and priorities of the field toward the pursuit of specific genes associated with discernible genetic disorders. This was not by design, but rather arose through negotiation with the catalogue's users; it accommodated further changes as biomedical research displaced the Mendelian paradigm. While great effort was expended toward making sequence data available to investigators during the Human Genome Project, MIM was largely taken for granted as a 'legacy system', McKusick's own labour of love. Drawing on recent histories of biomedical data, the article suggests that the bibliographical work of curation and translation is a central feature of value production in the life sciences meriting attention in its own right.

RevDate: 2021-08-18
CmpDate: 2021-08-18

Limon J, K Mrózek (2021)

Albert de la Chapelle-pro memoriam.

Journal of applied genetics, 62(3):455-458.

In this brief article, we celebrate the life and numerous scientific achievements of Dr. Albert de la Chapelle, a pioneer in the fields of human genetics and cytogenetics.

RevDate: 2021-08-12
CmpDate: 2021-08-12

Lipshitz HD (2021)

The Origin of GENETICS.

Genetics, 217(1):1-2.

RevDate: 2021-08-11
CmpDate: 2021-08-11

Zebell SG (2021)

A broad view: Dick Flavell.

Plant physiology, 185(3):727-730.

RevDate: 2021-08-11
CmpDate: 2021-08-11

Rushton AR (2021)

Counting human chromosomes before 1960: preconceptions, perceptions and predilections.

Annals of science, 78(1):92-116.

In 1956 the biomedical world was surprised to hear a report that human cells each contained forty six chromosomes, rather than the forty eight count that had been documented since the 1920s. Application of available techniques to culture human cells in vitro, halt their division at metaphase, and disperse chromosomes in an optical plane permitted perception of visual images not seen before. Researchers continued to obtain the preconceived forty eight counts until reeducation with these novel epistemic 'chromosomes' convinced them that they could confidently report forty six chromosomes per cell. Within only a few years, and virtually without dissent, the social community of human cytogeneticists agreed upon a shared visual culture of human chromosome count and morphology. The initial forty six count proved not to be an anomaly. A new comparison of historical and ethnomethodological studies has suggested a better understanding of how applied technologies coupled with altered human perceptions established a new science. Human cytogenetics then collaborated with medical genetics to correlate changes in the new human karyotype with disorders of clinical significance.

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.

RevDate: 2021-08-02
CmpDate: 2021-08-02

Breslauer KJ (2021)

The shaping of a molecular linguist: How a career studying DNA energetics revealed the language of molecular communication.

The Journal of biological chemistry, 296:100522.

My personal and professional journeys have been far from predictable based on my early childhood. Owing to a range of serendipitous influences, I miraculously transitioned from a rebellious, apathetic teenage street urchin who did poorly in school to a highly motivated, disciplined, and ambitious academic honors student. I was the proverbial "late bloomer." Ultimately, I earned my PhD in biophysical chemistry at Yale, followed by a postdoc fellowship at Berkeley. These two meccas of thermodynamics, coupled with my deep fascination with biology, instilled in me a passion to pursue an academic career focused on mapping the energy landscapes of biological systems. I viewed differential energetics as the language of molecular communication that would dictate and control biological structures, as well as modulate the modes of action associated with biological functions. I wanted to be a "molecular linguist." For the next 50 years, my group and I used a combination of spectroscopic and calorimetric techniques to characterize the energy profiles of the polymorphic conformational space of DNA molecules, their differential ligand-binding properties, and the energy landscapes associated with mutagenic DNA damage recognition, repair, and replication. As elaborated below, the resultant energy databases have enabled the development of quantitative molecular biology through the rational design of primers, probes, and arrays for diagnostic, therapeutic, and molecular-profiling protocols, which collectively have contributed to a myriad of biomedical assays. Such profiling is further justified by yielding unique energy-based insights that complement and expand elegant, structure-based understandings of biological processes.

RevDate: 2021-07-23
CmpDate: 2021-06-25

Yu X, H Li (2021)

Origin of ethnic groups, linguistic families, and civilizations in China viewed from the Y chromosome.

Molecular genetics and genomics : MGG, 296(4):783-797.

East Asia, geographically extending to the Pamir Plateau in the west, to the Himalayan Mountains in the southwest, to Lake Baikal in the north and to the South China Sea in the south, harbors a variety of people, cultures, and languages. To reconstruct the natural history of East Asians is a mission of multiple disciplines, including genetics, archaeology, linguistics, and ethnology. Geneticists confirm the recent African origin of modern East Asians. Anatomically modern humans arose in Africa and immigrated into East Asia via a southern route approximately 50,000 years ago. Following the end of the Last Glacial Maximum approximately 12,000 years ago, rice and millet were domesticated in the south and north of East Asia, respectively, which allowed human populations to expand and linguistic families and ethnic groups to develop. These Neolithic populations produced a strong relation between the present genetic structures and linguistic families. The expansion of the Hongshan people from northeastern China relocated most of the ethnic populations on a large scale approximately 5300 years ago. Most of the ethnic groups migrated to remote regions, producing genetic structure differences between the edge and center of East Asia. In central China, pronounced population admixture occurred and accelerated over time, which subsequently formed the Han Chinese population and eventually the Chinese civilization. Population migration between the north and the south throughout history has left a smooth gradient in north-south changes in genetic structure. Observation of the process of shaping the genetic structure of East Asians may help in understanding the global natural history of modern humans.

RevDate: 2021-06-16
CmpDate: 2021-06-16

Anonymous (2021)

Meet the author: Amy Tresenrider.

Molecular cell, 81(10):2055-2056.

Amy Tresenrider is the first author of "Integrated genomic analysis reveals key features of long undecoded transcript isoform (LUTI)-based gene repression." She shares with us insights behind the paper along with her perspectives on the importance of individualized mentorship and collaborations near and far.

RevDate: 2021-06-30
CmpDate: 2021-06-30

Byers PH (2021)

2020 McKusick Award address.

American journal of human genetics, 108(5):761-763.

This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website.

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

Anonymous (2021)

Meet the authors: Ewelina M. Małecka and Sarah A. Woodson.

Molecular cell, 81(9):1857-1858.

We talk to Ewelina Małecka and Sarah Woodson about their paper, "Stepwise sRNA targeting of structured bacterial mRNAs leads to abortive annealing," who inspired them along their scientific paths, the research in Sarah's lab and the environment she looks to create, as well as Ewelina's advice for aspiring scientists.

RevDate: 2021-08-02
CmpDate: 2021-08-02

Richardson JS, Richardson DC, DS Goodsell (2021)

Seeing the PDB.

The Journal of biological chemistry, 296:100742.

Ever since the first structures of proteins were determined in the 1960s, structural biologists have required methods to visualize biomolecular structures, both as an essential tool for their research and also to promote 3D comprehension of structural results by a wide audience of researchers, students, and the general public. In this review to celebrate the 50th anniversary of the Protein Data Bank, we present our own experiences in developing and applying methods of visualization and analysis to the ever-expanding archive of protein and nucleic acid structures in the worldwide Protein Data Bank. Across that timespan, Jane and David Richardson have concentrated on the organization inside and between the macromolecules, with ribbons to show the overall backbone "fold" and contact dots to show how the all-atom details fit together locally. David Goodsell has explored surface-based representations to present and explore biological subjects that range from molecules to cells. This review concludes with some ideas about the current challenges being addressed by the field of biomolecular visualization.

RevDate: 2021-08-02
CmpDate: 2021-08-02

Wolberger C (2021)

How structural biology transformed studies of transcription regulation.

The Journal of biological chemistry, 296:100741.

The past 4 decades have seen remarkable advances in our understanding of the structural basis of gene regulation. Technological advances in protein expression, nucleic acid synthesis, and structural biology made it possible to study the proteins that regulate transcription in the context of ever larger complexes containing proteins bound to DNA. This review, written on the occasion of the 50th anniversary of the founding of the Protein Data Bank focuses on the insights gained from structural studies of protein-DNA complexes and the role the PDB has played in driving this research. I cover highlights in the field, beginning with X-ray crystal structures of the first DNA-binding domains to be studied, through recent cryo-EM structures of transcription factor binding to nucleosomal DNA.

RevDate: 2021-08-02
CmpDate: 2021-08-02

Sali A (2021)

From integrative structural biology to cell biology.

The Journal of biological chemistry, 296:100743.

Integrative modeling is an increasingly important tool in structural biology, providing structures by combining data from varied experimental methods and prior information. As a result, molecular architectures of large, heterogeneous, and dynamic systems, such as the ∼52-MDa Nuclear Pore Complex, can be mapped with useful accuracy, precision, and completeness. Key challenges in improving integrative modeling include expanding model representations, increasing the variety of input data and prior information, quantifying a match between input information and a model in a Bayesian fashion, inventing more efficient structural sampling, as well as developing better model validation, analysis, and visualization. In addition, two community-level challenges in integrative modeling are being addressed under the auspices of the Worldwide Protein Data Bank (wwPDB). First, the impact of integrative structures is maximized by PDB-Development, a prototype wwPDB repository for archiving, validating, visualizing, and disseminating integrative structures. Second, the scope of structural biology is expanded by linking the wwPDB resource for integrative structures with archives of data that have not been generally used for structure determination but are increasingly important for computing integrative structures, such as data from various types of mass spectrometry, spectroscopy, optical microscopy, proteomics, and genetics. To address the largest of modeling problems, a type of integrative modeling called metamodeling is being developed; metamodeling combines different types of input models as opposed to different types of data to compute an output model. Collectively, these developments will facilitate the structural biology mindset in cell biology and underpin spatiotemporal mapping of the entire cell.

RevDate: 2021-08-02
CmpDate: 2021-08-02

Michalska K, A Joachimiak (2021)

Structural genomics and the Protein Data Bank.

The Journal of biological chemistry, 296:100747.

The field of Structural Genomics arose over the last 3 decades to address a large and rapidly growing divergence between microbial genomic, functional, and structural data. Several international programs took advantage of the vast genomic sequence information and evaluated the feasibility of structure determination for expanded and newly discovered protein families. As a consequence, structural genomics has developed structure-determination pipelines and applied them to a wide range of novel, uncharacterized proteins, often from "microbial dark matter," and later to proteins from human pathogens. Advances were especially needed in protein production and rapid de novo structure solution. The experimental three-dimensional models were promptly made public, facilitating structure determination of other members of the family and helping to understand their molecular and biochemical functions. Improvements in experimental methods and databases resulted in fast progress in molecular and structural biology. The Protein Data Bank structure repository played a central role in the coordination of structural genomics efforts and the structural biology community as a whole. It facilitated development of standards and validation tools essential for maintaining high quality of deposited structural data.

RevDate: 2021-06-12
CmpDate: 2021-03-24

Eichler EE (2021)

2020 William Allan Award introduction: Mary-Claire King.

American journal of human genetics, 108(3):383-385.

This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website. Photo credit: Clare McLean.

RevDate: 2021-08-02
CmpDate: 2021-08-02

Viegas J (2021)

Profile of Mark Stoneking.

Proceedings of the National Academy of Sciences of the United States of America, 118(8):.

RevDate: 2021-04-30
CmpDate: 2021-04-30

Portera M, M Mandrioli (2021)

Who's afraid of epigenetics? Habits, instincts, and Charles Darwin's evolutionary theory.

History and philosophy of the life sciences, 43(1):20.

Our paper aims at bringing to the fore the crucial role that habits play in Charles Darwin's theory of evolution by means of natural selection. We have organized the paper in two steps: first, we analyse value and functions of the concept of habit in Darwin's early works, notably in his Notebooks, and compare these views to his mature understanding of the concept in the Origin of Species and later works; second, we discuss Darwin's ideas on habits in the light of today's theories of epigenetic inheritance, which describe the way in which the functioning and expression of genes is modified by the environment, and how these modifications are transmitted over generations. We argue that Darwin's lasting and multifaceted interest in the notion of habit, throughout his intellectual life, is both conceptually and methodologically relevant. From a conceptual point of view, intriguing similarities can be found between Darwin's (early) conception of habit and contemporary views on epigenetic inheritance. From a methodological point of view, we suggest that Darwin's plastic approach to habits, from his early writings up to the mature works, can provide today's evolutionary scientists with a viable methodological model to address the challenging task of extending and expanding evolutionary theory, with particular reference to the integration of epigenetic mechanisms into existing models of evolutionary change. Over his entire life Darwin has modified and reassessed his views on habits as many times as required by evidence: his work on this notion may represent the paradigm of a habit of good scientific research methodology.

RevDate: 2021-03-09
CmpDate: 2021-03-09

Powell K (2021)

The broken promise that undermines human genome research.

Nature, 590(7845):198-201.

RevDate: 2021-03-31
CmpDate: 2021-03-31

Anonymous (2021)

The next 20 years of human genomics must be more equitable and more open.

Nature, 590(7845):183-184.

RevDate: 2021-03-09
CmpDate: 2021-03-09

Gates AJ, Gysi DM, Kellis M, et al (2021)

A wealth of discovery built on the Human Genome Project - by the numbers.

Nature, 590(7845):212-215.

RevDate: 2021-03-09
CmpDate: 2021-03-09

Rotimi CN, AA Adeyemo (2021)

From one human genome to a complex tapestry of ancestry.

Nature, 590(7845):220-221.

RevDate: 2021-08-03
CmpDate: 2021-03-09

Miga KH (2021)

Breaking through the unknowns of the human reference genome.

Nature, 590(7845):217-218.

RevDate: 2021-02-23
CmpDate: 2021-02-23

Fraser CM (2021)

A genome to celebrate.

Science (New York, N.Y.), 371(6529):545.

RevDate: 2021-03-26
CmpDate: 2021-02-16

Grote M, Onaga L, Creager ANH, et al (2021)

The molecular vista: current perspectives on molecules and life in the twentieth century.

History and philosophy of the life sciences, 43(1):16.

This essay considers how scholarly approaches to the development of molecular biology have too often narrowed the historical aperture to genes, overlooking the ways in which other objects and processes contributed to the molecularization of life. From structural and dynamic studies of biomolecules to cellular membranes and organelles to metabolism and nutrition, new work by historians, philosophers, and STS scholars of the life sciences has revitalized older issues, such as the relationship of life to matter, or of physicochemical inquiries to biology. This scholarship points to a novel molecular vista that opens up a pluralist view of molecularizations in the twentieth century and considers their relevance to current science.

RevDate: 2021-07-27
CmpDate: 2021-07-27

Stretton AOW (2020)

My life with Sydney, 1961-1971.

Journal of neurogenetics, 34(3-4):225-237.

During the 1961-1971 decade, Sydney Brenner made several significant contributions to molecular biology-showing that the genetic code is a triplet code; discovery of messenger RNA; colinearity of gene and protein; decoding of chain terminating codons; and then an important transition: the development of the nematode Caenorhabditis elegans into the model eucaryote genetic system that has permeated the whole of recent biology.

RevDate: 2021-07-27
CmpDate: 2021-07-27

Waterston RH, DG Moerman (2020)

John Sulston (1942-2018): a personal perspective.

Journal of neurogenetics, 34(3-4):238-246.

John Sulston changed the way we do science, not once, but three times - initially with the complete cell lineage of the nematode Caenorhabditis elegans, next with completion of the genome sequences of the worm and human genomes and finally with his strong and active advocacy for open data sharing. His contributions were widely recognized and in 2002 he received the Nobel Prize in Physiology and Medicine.

RevDate: 2021-01-21
CmpDate: 2021-01-21

Collins FS, Doudna JA, Lander ES, et al (2021)

Human Molecular Genetics and Genomics - Important Advances and Exciting Possibilities.

The New England journal of medicine, 384(1):1-4.

RevDate: 2020-12-16
CmpDate: 2020-12-16

Anonymous (2020)

Education, Experience, and Action: An Interview with Dr. Trevor K. Archer.

Molecular cell, 80(5):749-751.

We asked Dr. Archer about his experiences in academia, struggles he has faced, and thoughts on addressing racial bias. We hope that this series sparks a larger discussion of issues faced by underrepresented scientists and ways the scientific community can foster diversity and better support underrepresented scientists. The opinions expressed here are those of Dr. Archer and not the NIH/NIEHS or the US government.

RevDate: 2021-02-08
CmpDate: 2021-02-08

Azar B (2020)

Profile of Haig H. Kazazian Jr.

Proceedings of the National Academy of Sciences of the United States of America, 117(51):32185-32188.

RevDate: 2021-07-14
CmpDate: 2021-07-14

Reha-Krantz LJ, MF Goodman (2020)

John W. (Jan) Drake: A Biochemical View of a Geneticist Par Excellence.

Genetics, 216(4):827-836.

John W. Drake died 02-02-2020, a mathematical palindrome, which he would have enjoyed, given his love of "word play and logic," as stated in his obituary and echoed by his family, friends, students, and colleagues. Many aspects of Jan's career have been reviewed previously, including his early years as a Caltech graduate student, and when he was editor-in-chief, with the devoted assistance of his wife Pam, of this journal for 15 impactful years. During his editorship, he raised the profile of GENETICS as the flagship journal of the Genetics Society of America and inspired and contributed to the creation of the Perspectives column, coedited by Jim Crow and William Dove. At the same time, Jan was building from scratch the Laboratory of Molecular Genetics on the newly established Research Triangle Park campus of the National Institute of Environmental Health Science, which he headed for 30 years. This commentary offers a unique perspective on Jan's legacy; we showcase Jan's 1969 benchmark discovery of antimutagenic T4 DNA polymerases and the research by three generations (and counting) of scientists whose research stems from that groundbreaking discovery. This is followed by a brief discussion of Jan's passion: his overriding interest in analyzing mutation rates across species. Several anecdotal stories are included to bring alive one of Jan's favorite phrases, "to think like a geneticist." We feature Jan's genetical approach to mutation studies, along with the biochemistry of DNA polymerase function, our area of expertise. But in the end, we acknowledge, as Jan did, that genetics, also known as in vivo biochemistry, prevails.

RevDate: 2021-05-31
CmpDate: 2021-01-21

Ravindran S (2020)

Profile of Se-Jin Lee.

Proceedings of the National Academy of Sciences of the United States of America, 117(49):30870-30872.

RevDate: 2021-04-16
CmpDate: 2021-04-16

Weake VM (2021)

Gcn5: The quintessential histone acetyltransferase.

Biochimica et biophysica acta. Gene regulatory mechanisms, 1864(2):194658.

RevDate: 2021-07-07
CmpDate: 2021-07-07

Pierpont EI, Berry SA, Lin AE, et al (2021)

Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020).

American journal of medical genetics. Part A, 185(2):319-323.

RevDate: 2021-02-08
CmpDate: 2021-02-08

Anonymous (2020)

Frans H. J. Claas, PhD, Eurotransplant Reference Laboratory, Department of Immunohaematology and Blood Transfusion, Leiden University Medical Center, Leiden, Netherlands.

Transplantation, 104(12):2461-2463.

RevDate: 2021-07-29
CmpDate: 2021-07-29

Roca-Rada X, Souilmi Y, Teixeira JC, et al (2020)

Ancient DNA Studies in Pre-Columbian Mesoamerica.

Genes, 11(11):.

Mesoamerica is a historically and culturally defined geographic area comprising current central and south Mexico, Belize, Guatemala, El Salvador, and border regions of Honduras, western Nicaragua, and northwestern Costa Rica. The permanent settling of Mesoamerica was accompanied by the development of agriculture and pottery manufacturing (2500 BCE-150 CE), which led to the rise of several cultures connected by commerce and farming. Hence, Mesoamericans probably carried an invaluable genetic diversity partly lost during the Spanish conquest and the subsequent colonial period. Mesoamerican ancient DNA (aDNA) research has mainly focused on the study of mitochondrial DNA in the Basin of Mexico and the Yucatán Peninsula and its nearby territories, particularly during the Postclassic period (900-1519 CE). Despite limitations associated with the poor preservation of samples in tropical areas, recent methodological improvements pave the way for a deeper analysis of Mesoamerica. Here, we review how aDNA research has helped discern population dynamics patterns in the pre-Columbian Mesoamerican context, how it supports archaeological, linguistic, and anthropological conclusions, and finally, how it offers new working hypotheses.

RevDate: 2021-02-01
CmpDate: 2021-02-01

Lee SH, Kim DH, Kuzmanov U, et al (2021)

Membrane proteomic profiling of the heart: past, present, and future.

American journal of physiology. Heart and circulatory physiology, 320(1):H417-H423.

Cardiovascular diseases remain the most rapidly rising contributing factor of all-cause mortality and the leading cause of inpatient hospitalization worldwide, with costs exceeding $30 billion annually in North America. Cell surface and membrane-associated proteins play an important role in cardiomyocyte biology and are involved in the pathogenesis of many human heart diseases. In cardiomyocytes, membrane proteins serve as critical signaling receptors, Ca2+ cycling regulators, and electrical propagation regulators, all functioning in concert to maintain spontaneous and synchronous contractions of cardiomyocytes. Membrane proteins are excellent pharmaceutical targets due to their uniquely exposed position within the cell. Perturbations in cardiac membrane protein localization and function have been implicated in the progression and pathogenesis of many heart diseases. However, previous attempts at profiling the cardiac membrane proteome have yielded limited results due to poor technological developments for isolating hydrophobic, low-abundance membrane proteins. Comprehensive mapping and characterization of the cardiac membrane proteome thereby remains incomplete. This review will focus on recent advances in mapping the cardiac membrane proteome and the role of novel cardiac membrane proteins in the healthy and the diseased heart.

RevDate: 2021-05-09
CmpDate: 2021-01-15

Viegas J (2020)

Profile of Masayori Inouye.

Proceedings of the National Academy of Sciences of the United States of America, 117(46):28543-28545.

RevDate: 2021-07-30
CmpDate: 2021-07-30

Ortiz R (2020)

Göte Turesson's research legacy to Hereditas: from the ecotype concept in plants to the analysis of landraces' diversity in crops.

Hereditas, 157(1):44.

Hereditas began with articles on plants since its first issue in May 1920 (six out of eight) and continued with more original articles (43% of the total of this journal) on plants (of which 72% of those in plants were on crops) until today. In December 1922, the 140-page article The Genotypical Response of the Plant Species to the Habitat by evolutionary botanist Göte Turesson (Institute of Genetics, Lund University, Åkarp, Sweden) became available. This publication shows that plant phenology has a genetic basis and may ensue from local adaptation. As a result of this research involving various plant species, Turesson elaborated further in this article his term ecotype "as an ecological sub-unit to cover the product arising as a result of the genotypical response of an ecospecies to a particular habitat." Although plant articles included in Hereditas involved from its beginning, trait inheritance, mutants, linkage analysis, cytology or cytogenetics, and more recently gene mapping and analysis of quantitative trait loci with the aid of DNA markers, among others, since the mid-1980s several publications refer to the population biology of plant landraces, which are locally grown cultivars that evolved over time by adapting to their natural and cultural environment (i.e., agriculture), and that may become isolated from other populations of the same crop. This article provides a briefing about research on plant science in the journal with emphasis on crops, summarizes the legacy to genetics of Göte Turesson, and highlights some landrace diversity research results and their potential for plant breeding.

RevDate: 2021-07-14
CmpDate: 2021-07-14

Bender WW (2020)

Molecular Lessons from the Drosophila Bithorax Complex.

Genetics, 216(3):613-617.

The Genetics Society of America's (GSA's) Edward Novitski Prize recognizes a single experimental accomplishment or a body of work in which an exceptional level of creativity, and intellectual ingenuity, has been used to design and execute scientific experiments to solve a difficult problem in genetics. The 2020 recipient is Welcome W. Bender of Harvard Medical School, recognizing his creativity and ingenuity in revealing the molecular nature and regulation of the bithorax gene complex.

RevDate: 2021-07-14
CmpDate: 2021-07-14

Fink GR (2020)

A Morgan Legacy.

Genetics, 216(3):611-612.

The Thomas Hunt Morgan Medal recognizes lifetime contributions to the field of genetics. The 2020 recipient is Gerald R. Fink of Massachusetts Institute of Technology and the Whitehead Institute for Biomedical Research, recognizing the discovery of principles central to genome organization and regulation in eukaryotic cells.

RevDate: 2020-12-21
CmpDate: 2020-12-21

Verdin E (2020)

Paolo Sassone-Corsi (1956-2020).

Science (New York, N.Y.), 370(6516):532.

RevDate: 2021-03-24
CmpDate: 2021-03-24

Van Houten B (2020)

Graphical snapshot of Samuel H. Wilson.

DNA repair, 93:102934.

RevDate: 2021-03-24
CmpDate: 2021-03-24

Hanawalt PC (2020)

Tribute to Sam Wilson: Shining a light on base excision DNA repair.

DNA repair, 93:102933.

RevDate: 2021-06-28
CmpDate: 2021-06-28

Zvénigorosky V, Duchesne S, Romanova L, et al (2020)

The genetic legacy of legendary and historical Siberian chieftains.

Communications biology, 3(1):581.

Seventeen years of archaeological and anthropological expeditions in North-Eastern Siberia (in the Sakha Republic, Yakutia) have permitted the genetic analysis of 150 ancient (15th-19th century) and 510 modern individuals. Almost all males were successfully analysed (Y-STR) and this allowed us to identify paternal lineages and their geographical expansion through time. This genetic data was confronted with mythological, historical and material evidence to establish the sequence of events that built the modern Yakut genetic diversity. We show that the ancient Yakuts recovered from this large collection of graves are not representative of an ancient population. Uncommonly, we were also able to demonstrate that the funerary preference observed here involved three specific male lineages, especially in the 18th century. Moreover, this dominance was likely caused by the Russian conquest of Siberia which allowed some male clans to rise to new levels of power. Finally, we give indications that some mythical and historical figures might have been the actors of those genetic changes. These results help us reconsider the genetic dynamics of colonization in some regions, question the distinction between fact and myth in national histories and provide a rare insight into a funerary ensemble by revealing the biased process of its composition.

RevDate: 2021-02-25
CmpDate: 2021-02-25

Peixoto P, Cartron PF, Serandour AA, et al (2020)

From 1957 to Nowadays: A Brief History of Epigenetics.

International journal of molecular sciences, 21(20):.

Due to the spectacular number of studies focusing on epigenetics in the last few decades, and particularly for the last few years, the availability of a chronology of epigenetics appears essential. Indeed, our review places epigenetic events and the identification of the main epigenetic writers, readers and erasers on a historic scale. This review helps to understand the increasing knowledge in molecular and cellular biology, the development of new biochemical techniques and advances in epigenetics and, more importantly, the roles played by epigenetics in many physiological and pathological situations.

RevDate: 2021-07-26
CmpDate: 2021-07-26

Kendler KS (2021)

The Prehistory of Psychiatric Genetics: 1780-1910.

The American journal of psychiatry, 178(6):490-508.

While psychiatric genetics has emerged as one of our most dynamic research fields, the historical context in which we view these developments is limited. To provide such a perspective, the author reviews 48 representative texts, published from 1780 to 1910, examining the inheritance of insanity. Six main conclusions emerge. First, most authors viewed heredity as among the strongest risk factors for insanity. Second, most writers concluded that a predisposition to illness rather than the illness itself was transmitted in families. Third, the probabilistic nature of the transmission was noted, as insanity often skipped generations or affected only a few of many siblings. Fourth, authors discussed the homogeneity versus heterogeneity of familial transmission of the various forms of insanities. Heterogeneous transmission was usually seen as the rule-with relatives of insane patients affected with a wide variety of psychiatric, and sometimes neurological, illnesses. Homogeneous transmission ("like begets like") was the exception. Fifth, writers noted that odd and eccentric personality features were common in the relatives of their insane patients. Finally, inheritance was commonly understood to include prior environmental parental experiences, and some authors noted that parent-offspring transmission of insanity could arise from psychological or intrauterine effects. Many of these conclusions, arising solely from clinical experience and without an understanding of biological mechanisms, statistical analyses, or necessary controls, are supported by later, more rigorous methods. Rather than entirely rejecting its value, we might view this literature as a complementary resource, likely more biased, but suffused with the extensive clinical knowledge of our forebears.

RevDate: 2021-03-02
CmpDate: 2021-03-02

Letarov AV (2020)

History of Early Bacteriophage Research and Emergence of Key Concepts in Virology.

Biochemistry. Biokhimiia, 85(9):1093-1010.

The viruses of bacteria - bacteriophages - were discovered 20 years after the discovery of viruses. However, this was mainly the bacteriophage research that, after the first 40 years, yielded the modern concept of the virus and to large extent formed the grounds of the emerging molecular genetics and molecular biology. Many specific aspects of the bacteriophage research history have been addressed in the existing publications. The integral outline of the events that led to the formation of the key concepts of modern virology is presented in this review. This includes the opposition of F. d'Herelle and J. Bordet viewpoints over the nature of the bacteriophage, the history of lysogeny discovery and of determination of the mechanisms of underlying this phenomenon, the work of the Phage group led by M. Delbruck in USA, the development of the genetic analysis of bacteriophages and other research that eventually led to emergence of the concept of the virus (bacteriophage) as a transmissive genetic program. The review also covers a brief history of early applications of the bacteriophages such as phage therapy and phage typing.

RevDate: 2021-07-14
CmpDate: 2021-07-14

Botstein D (2020)

Perspective: Linkage Maps, Communities of Geneticists, and Genome Databases.

Genetics, 216(2):261-262.

The Thomas Hunt Morgan Medal recognizes lifetime contributions to the field of genetics. The 2020 recipient is David Botstein of Calico Labs and Princeton University, recognizing his multiple contributions to genetics, including the collaborative development of methods for defining genetic pathways, mapping genomes, and analyzing gene expression.

RevDate: 2021-06-03
CmpDate: 2020-11-30

Ragsdale AP, Nelson D, Gravel S, et al (2020)

Lessons Learned from Bugs in Models of Human History.

American journal of human genetics, 107(4):583-588.

Simulation plays a central role in population genomics studies. Recent years have seen rapid improvements in software efficiency that make it possible to simulate large genomic regions for many individuals sampled from large numbers of populations. As the complexity of the demographic models we study grows, however, there is an ever-increasing opportunity to introduce bugs in their implementation. Here, we describe two errors made in defining population genetic models using the msprime coalescent simulator that have found their way into the published record. We discuss how these errors have affected downstream analyses and give recommendations for software developers and users to reduce the risk of such errors.

RevDate: 2021-02-08
CmpDate: 2021-02-08

Turda M (2020)

Subversive affinities: Embracing soviet science in late 1940s Romania.

Studies in history and philosophy of biological and biomedical sciences, 83:101131.

This article discusses the appropriation of Soviet science in Romania during the late 1940s. To achieve this, I discuss various publications on biology, anthropology, heredity and genetics. In a climate of major political change, following the end of the Second World War, all scientific fields in Romania were gradually subjected to political pressures to adapt and change according to a new ideological context. Yet the adoption of Soviet science during the late 1940s was not a straightforward process of scientific acculturation. Whilst the deference to Soviet authors remained consistent through most of Romanian scientific literature at the time, what is perhaps less visible is the attempt to refashion Romanian science itself in order to serve the country's new political imaginary and social transformation. Some Romanian biologists and physicians embraced Soviet scientific theories as a demonstration of their loyalty to the newly established regime. Others, however, were remained committed to local and Western scientific traditions they deemed essential to the survival of their discipline. A critical reassessment of the late 1940s is essential to an understanding of these dissensions as well as of the overall political and institutional constraints shaping the development of a new politics of science in communist Romania.

RevDate: 2021-02-16
CmpDate: 2020-12-14

Anonymous (2020)

Marking a milestone.

Nature reviews. Genetics, 21(10):573.

RevDate: 2020-11-06
CmpDate: 2020-11-06

Josephy D (2020)

A tribute to Prof. Bruce Ames.

Mutation research, 856-857:503221.

RevDate: 2020-11-02
CmpDate: 2020-11-02

Moreau-Gachelin F, Camonis J, de Gunzburg J, et al (2020)

[Armand Tavitian (1931-2020): from oncogenes to the Ras superfamily].

Medecine sciences : M/S, 36(8-9):810-812.

RevDate: 2021-04-01
CmpDate: 2021-04-01

Bruckner-Tuderman L (2020)

ESDR around the Millennium Change.

The Journal of investigative dermatology, 140(9S):S158-S159.

RevDate: 2020-12-14
CmpDate: 2020-12-10

Lodish HF (2020)

Over 60 Years of Experimental Hematology (without a License).

Experimental hematology, 89:1-12.

I am deeply honored to receive the International Society for Experimental Hematology (ISEH) 2020 Donald Metcalf Lecture Award. Although I am not a physician and have had no formal training in hematology, I have had the privilege of working with some of the top hematologists in the world, beginning in 1970 when Dr. David Nathan was a sabbatical visitor in my laboratory and introduced me to hematological diseases. And I take this award to be given not just to me but to an exceptional group of MD and PhD trainees and visitors in my laboratory who have cloned and characterized many proteins and RNAs important for red cell development and function. Many of these projects involved taking exceptionally large risks in developing and employing novel experimental technologies. Unsurprisingly, all of these trainees have gone on to become leaders in hematology and, more broadly, in molecular cell biology and molecular medicine. To illustrate some of the challenges we have faced and the technologies we had to develop, I have chosen several of our multiyear projects to describe in some detail: elucidating the regulation of translation of α- and β-globin mRNAs and the defect in beta thalassemia in the 1970s; cloning the Epo receptor and several red cell membrane proteins in the 1980s and 1990s; and more recently, determining the function of many microRNAs and long noncoding RNAs in red cell development. I summarize how we are currently utilizing single-cell transcriptomics (scRNAseq) to understand how dividing transit-amplifying burst-forming unit erythroid progenitors balance the need for more progenitor cells with the need for terminally differentiated erythroid cells, and to identify drugs potentially useful in treating Epo-resistant anemias such as Diamond Blackfan anemia. I hope that the lessons I learned in managing these diverse fellows and projects, initially without having grants to support them, will be helpful to others who would like to undertake ambitious and important lines of research in hematology.

RevDate: 2021-02-22
CmpDate: 2021-02-22

Guffroy A, Martin T, V Gies (2020)


La Revue de medecine interne, 41(10):649-652.

RevDate: 2021-08-02
CmpDate: 2021-07-02

Mathieson I (2020)

Human adaptation over the past 40,000 years.

Current opinion in genetics & development, 62:97-104.

Over the past few years several methodological and data-driven advances have greatly improved our ability to robustly detect genomic signatures of selection in humans. New methods applied to large samples of present-day genomes provide increased power, while ancient DNA allows precise estimation of timing and tempo. However, despite these advances, we are still limited in our ability to translate these signatures into understanding about which traits were actually under selection, and why. Combining information from different populations and timescales may allow interpretation of selective sweeps. Other modes of selection have proved more difficult to detect. In particular, despite strong evidence of the polygenicity of most human traits, evidence for polygenic selection is weak, and its importance in recent human evolution remains unclear. Balancing selection and archaic introgression seem important for the maintenance of potentially adaptive immune diversity, but perhaps less so for other traits.

RevDate: 2021-02-15
CmpDate: 2021-02-15

Keyser C, Zvénigorosky V, Gonzalez A, et al (2021)

Genetic evidence suggests a sense of family, parity and conquest in the Xiongnu Iron Age nomads of Mongolia.

Human genetics, 140(2):349-359.

In an effort to characterize the people who composed the groups known as the Xiongnu, nuclear and whole mitochondrial DNA data were generated from the skeletal remains of 52 individuals excavated from the Tamir Ulaan Khoshuu (TUK) cemetery in Central Mongolia. This burial site, attributed to the Xiongnu period, was used from the first century BC to the first century AD. Kinship analyses were conducted using autosomal and Y-chromosomal DNA markers along with complete sequences of the mitochondrial genome. These analyses suggested close kin relationships between many individuals. Nineteen such individuals composed a large family spanning five generations. Within this family, we determined that a woman was of especially high status; this is a novel insight into the structure and hierarchy of societies from the Xiongnu period. Moreover, our findings confirmed that the Xiongnu had a strongly admixed mitochondrial and Y-chromosome gene pools and revealed a significant western component in the Xiongnu group studied. Using a fine-scale approach (haplotype instead of haplogroup-level information), we propose Scytho-Siberians as ancestors of the Xiongnu and Huns as their descendants.

RevDate: 2021-04-01
CmpDate: 2021-04-01

Cramer P (2020)

Rosalind Franklin and the Advent of Molecular Biology.

Cell, 182(4):787-789.

Rosalind Franklin provided the key data for deriving the double helix structure of DNA. The English chemist also pioneered structural studies of colloids, viruses, and RNA. To celebrate the 100th anniversary of Franklin's birth, I summarize her work, which shaped the emerging discipline of molecular biology.

RevDate: 2021-07-16
CmpDate: 2021-07-16

Weiss RA (2020)

A perspective on the early days of RAS research.

Cancer metastasis reviews, 39(4):1023-1028.

The name of the oncogene, ras, has its origin in studies of murine leukemia viruses in the 1960s by Jenny Harvey (H-ras) and by Werner Kirsten (K-ras) which, at high doses, produced sarcomas in rats. Transforming retroviruses were isolated, and its oncogene was named ras after rat sarcoma. From 1979, cellular ras sequences with transforming properties were identified by transfection of tumor DNA initially by Robert Weinberg from rodent tumors, and the isolation of homologous oncogenes from human tumors soon followed, including HRAS and KRAS, and a new member of the family named NRAS. I review these discoveries, placing emphasis on the pioneering research of Christopher Marshall and Alan Hall, who subsequently made immense contributions to our understanding of the functions of RAS and related small GTPases to signal transduction pathways, cell structure, and the behavior of normal and malignant cells.

RevDate: 2021-06-08
CmpDate: 2021-06-08

Mazzeu JF, HG Brunner (2020)

50 years of Robinow syndrome.

American journal of medical genetics. Part A, 182(9):2005-2007.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Evans D, Medland SE, N Gillespie (2020)


Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):67.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Eaves L (2020)

Birmingham and Beyond.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):68-71.

Nick Martin was a doctoral student of mine at the University of Birmingham in the mid 1970s. In this review, I discuss two of Nick's earliest and most seminal contributions to the field of behavior genetics. First, Martin and Eaves' (1977) extension of the model-fitting approach to multivariate data, which laid the theoretical groundwork for a generation of multivariate behavior genetic studies. Second, the Martin et al.'s (1978) manuscript on the power of the classical twin design, which showed that thousands of twin pairs would be required in order to reliably estimate components of variance, and has served as impetus for the formation of large-scale twin registries across the world. I discuss these contributions against the historical backdrop of a time when we and others were struggling with the challenge of figuring out how to incorporate gene-by-environment interaction, gene-environment correlation, mate selection and cultural transmission into more complex genetic models of human behavior.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Sham PC, Purcell SM, Cherny SS, et al (2020)

Statistical Power and the Classical Twin Design.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):87-89.

Dr Nick Martin has made enormous contributions to the field of behavior genetics over the past 50 years. Of his many seminal papers that have had a profound impact, we focus on his early work on the power of twin studies. He was among the first to recognize the importance of sample size calculation before conducting a study to ensure sufficient power to detect the effects of interest. The elegant approach he developed, based on the noncentral chi-squared distribution, has been adopted by subsequent researchers for other genetic study designs, and today remains a standard tool for power calculations in structural equation modeling and other areas of statistical analysis. The present brief article discusses the main aspects of his seminal paper, and how it led to subsequent developments, by him and others, as the field of behavior genetics evolved into the present era.

RevDate: 2021-06-18
CmpDate: 2021-04-01

Tomáška Ľ, Cesare AJ, AlTurki TM, et al (2020)

Twenty years of t-loops: A case study for the importance of collaboration in molecular biology.

DNA repair, 94:102901.

Collaborative studies open doors to breakthroughs otherwise unattainable by any one laboratory alone. Here we describe the initial collaboration between the Griffith and de Lange laboratories that led to thinking about the telomere as a DNA template for homologous recombination, the proposal of telomere looping, and the first electron micrographs of t-loops. This was followed by collaborations that revealed t-loops across eukaryotic phyla. The Griffith and Tomáška/Nosek collaboration revealed circular telomeric DNA (t-circles) derived from the linear mitochondrial chromosomes of nonconventional yeast, which spurred discovery of t-circles in ALT-positive human cells. Collaborative work between the Griffith and McEachern labs demonstrated t-loops and t-circles in a series of yeast species. The de Lange and Zhuang laboratories then applied super-resolution light microscopy to demonstrate a genetic role for TRF2 in loop formation. Recent work from the Griffith laboratory linked telomere transcription with t-loop formation, providing a new model of the t-loop junction. A recent collaboration between the Cesare and Gaus laboratories utilized super-resolution light microscopy to provide details about t-loops as protective elements, followed by the Boulton and Cesare laboratories showing how cell cycle regulation of TRF2 and RTEL enables t-loop opening and reformation to promote telomere replication. Twenty years after the discovery of t-loops, we reflect on the collective history of their research as a case study in collaborative molecular biology.

RevDate: 2021-08-02
CmpDate: 2020-12-01

Rahman AH, D Homann (2020)

Mass cytometry and type 1 diabetes research in the age of single-cell data science.

Current opinion in endocrinology, diabetes, and obesity, 27(4):231-239.

PURPOSE OF REVIEW: New single-cell tec. hnologies developed over the past decade have considerably reshaped the biomedical research landscape, and more recently have found their way into studies probing the pathogenesis of type 1 diabetes (T1D). In this context, the emergence of mass cytometry in 2009 revolutionized immunological research in two fundamental ways that also affect the T1D world: first, its ready embrace by the community and rapid dissemination across academic and private science centers alike established a new standard of analytical complexity for the high-dimensional proteomic stratification of single-cell populations; and second, the somewhat unexpected arrival of mass cytometry awoke the flow cytometry field from its seeming sleeping beauty stupor and precipitated substantial technological advances that by now approach a degree of analytical dimensionality comparable to mass cytometry.

RECENT FINDINGS: Here, we summarize in detail how mass cytometry has thus far been harnessed for the pursuit of discovery studies in T1D science; we provide a succinct overview of other single-cell analysis platforms that already have been or soon will be integrated into various T1D investigations; and we briefly consider how effective adoption of these technologies requires an adjusted model for expense allocation, prioritization of experimental questions, division of labor, and recognition of scientific contributions.

SUMMARY: The introduction of contemporary single-cell technologies in general, and of mass cytometry, in particular, provides important new opportunities for current and future T1D research; the necessary reconfiguration of research strategies to accommodate implementation of these technologies, however, may both broaden research endeavors by fostering genuine team science, and constrain their actual practice because of the need for considerable investments into infrastructure and technical expertise.

RevDate: 2020-10-09
CmpDate: 2020-10-09

Jordan B (2020)

[Junk DNA is out of fashion].

Medecine sciences : M/S, 36(6-7):675-677.

A systematic search for non-conventional open reading frames in human DNA reveals a large number of small ORFs encoding peptides generally smaller than 100 amino-acids. These ORFs are transcribed and translated into small proteins, which are demonstrated to have functional significance by bulk CRISPR inactivation. Evidence is also found for bicistronic mRNAs including such a small ORF upstream of a canonical coding sequence. These findings add a new facet to our understanding of biological processes.

RevDate: 2021-05-04
CmpDate: 2020-10-14

Immunological Genome Project (2020)

ImmGen at 15.

Nature immunology, 21(7):700-703.

RevDate: 2020-09-09
CmpDate: 2020-09-09

Konashev M (2020)

Soviet genetics and the communist party: was it all bad and wrong, or none at all?.

History and philosophy of the life sciences, 42(2):27 pii:10.1007/s40656-020-00323-0.

The history of genetics and the evolutionary theory in the USSR is multidimensional. Only in the 1920s after the October Revolution, and due in large part to that Revolution, the science of genetics arose in Soviet Russia. Genetics was limited, but not obliterated in the second half of the 1950s, and was restored in the late 1960s, after the resignation of Nikita S. Khrushchev. In the subsequent period, Soviet genetics experienced a resurgence, though one not as successful as geneticists would have liked. The Communist party bodies interfered constantly, but with different consequences for the development of genetics than when the earlier periods. The main troubles for Soviet genetics occurred during the unique, well-known, most contradictory, and tragic Stalinist period. The start date for the defeat of genetics is also known-August, 1948. In the social history of science and especially in the history of evolutionary biology (including genetics) it is natural, necessary, and even expected to adopt an evolutionary approach. In particular, historians of science need to consider and explain the evolution and dependence of Soviet science in regards to the evolution of Soviet society, the Soviet state, and the Communist party. This evolutionary perspective reflects the standards of evolutionary biology, evolutionary macrosociology, and also the history of science.

RevDate: 2021-06-16
CmpDate: 2020-12-08

Yunusbaev U, Ionusbaev A, Han G, et al (2020)

Recent effective population size in Eastern European plain Russians correlates with the key historical events.

Scientific reports, 10(1):9729.

Effective population size reflects the history of population growth, contraction, and structuring. When the effect of structuring is negligible, the inferred trajectory of the effective population size can be informative about the key events in the history of a population. We used the IBDNe and DoRIS approaches, which exploit the data on IBD sharing between genomes, to reconstruct the recent effective population size in two population datasets of Russians from Eastern European plain: (1) ethnic Russians sampled from the westernmost part of Russia; (2) ethnic Russians, Bashkirs, and Tatars sampled from the Volga-Ural region. In this way, we examined changes in effective population size among ethnic Russians that reside in their historical area at the West of the plain, and that expanded eastward to come into contact with the indigenous peoples at the East of the plain. We compared the inferred demographic trajectories of each ethnic group to written historical data related to demographic events such as migration, war, colonization, famine, establishment, and collapse of empires. According to IBDNe estimations, 200 generations (~6000 years) ago, the effective size of the ancestral populations of Russians, Bashkirs, and Tatars hovered around 3,000, 30,000, and 8,000 respectively. Then, the ethnic Russians exponentially grew with increasing rates for the last 115 generations and become the largest ethnic group of the plain. Russians do not show any drop in effective population size after the key historical conflicts, including the Mongol invasion. The only exception is a moderate drop in the 17th century, which is well known in Russian history as The Smuta. Our analyses suggest a more eventful recent population history for the two small ethnic groups that came into contact with ethnic Russians in the Volga-Ural region. We found that the effective population size of Bashkirs and Tatars started to decrease during the time of the Mongol invasion. Interestingly, there is an even stronger drop in the effective population size that coincides with the expansion of Russians to the East. Thus, 15-20 generations ago, i.e. in the 16-18th centuries in the trajectories of Bashkirs and Tatars, we observe the bottlenecks of four and twenty thousand, respectively. Our results on the recent effective population size correlate with the key events in the history of populations of the Eastern European plain and have importance for designing biomedical studies in the region.

RevDate: 2020-12-18
CmpDate: 2020-09-07

Pederson T (2020)

The 50th anniversary of reverse transcriptase-and its ironic legacy in the time of coronavirus.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 34(6):7219-7221.

RevDate: 2020-12-15
CmpDate: 2020-08-28

Ravindran S (2020)

Profile of Christopher A. Walsh.

Proceedings of the National Academy of Sciences of the United States of America, 117(25):13861-13863.

RevDate: 2020-11-23
CmpDate: 2020-11-23

Veigl SJ, Harman O, E Lamm (2020)

Friedrich Miescher's Discovery in the Historiography of Genetics: From Contamination to Confusion, from Nuclein to DNA.

Journal of the history of biology, 53(3):451-484.

In 1869, Johann Friedrich Miescher discovered a new substance in the nucleus of living cells. The substance, which he called nuclein, is now known as DNA, yet both Miescher's name and his theoretical ideas about nuclein are all but forgotten. This paper traces the trajectory of Miescher's reception in the historiography of genetics. To his critics, Miescher was a "contaminator," whose preparations were impure. Modern historians portrayed him as a "confuser," whose misunderstandings delayed the development of molecular biology. Each of these portrayals reflects the disciplinary context in which Miescher's work was evaluated. Using archival sources to unearth Miescher's unpublished speculations-including an analogy between the hereditary material and language, and a speculation that a series of asymmetric carbon atoms could account for hereditary variation-this paper clarifies the ways in which the past was judged through the lens of contemporary concerns. It also shows how organization, structure, function, and information were already being considered when nuclein was first discovered nearly 150 years ago.

RevDate: 2021-01-04
CmpDate: 2021-01-04

Anava S, Neuhof M, Gingold H, et al (2020)

Illuminating Genetic Mysteries of the Dead Sea Scrolls.

Cell, 181(6):1218-1231.e27.

The discovery of the 2,000-year-old Dead Sea Scrolls had an incomparable impact on the historical understanding of Judaism and Christianity. "Piecing together" scroll fragments is like solving jigsaw puzzles with an unknown number of missing parts. We used the fact that most scrolls are made from animal skins to "fingerprint" pieces based on DNA sequences. Genetic sorting of the scrolls illuminates their textual relationship and historical significance. Disambiguating the contested relationship between Jeremiah fragments supplies evidence that some scrolls were brought to the Qumran caves from elsewhere; significantly, they demonstrate that divergent versions of Jeremiah circulated in parallel throughout Israel (ancient Judea). Similarly, patterns discovered in non-biblical scrolls, particularly the Songs of the Sabbath Sacrifice, suggest that the Qumran scrolls represent the broader cultural milieu of the period. Finally, genetic analysis divorces debated fragments from the Qumran scrolls. Our study demonstrates that interdisciplinary approaches enrich the scholar's toolkit.

RevDate: 2021-07-06
CmpDate: 2021-07-06

Lamm E, Harman O, SJ Veigl (2020)

Before Watson and Crick in 1953 Came Friedrich Miescher in 1869.

Genetics, 215(2):291-296.

In 1869, the young Swiss biochemist Friedrich Miescher discovered the molecule we now refer to as DNA, developing techniques for its extraction. In this paper we explain why his name is all but forgotten, and his role in the history of genetics is mostly overlooked. We focus on the role of national rivalries and disciplinary turf wars in shaping historical memory, and on how the story we tell shapes our understanding of the science. We highlight that Miescher could just as correctly be portrayed as the person who understood the chemical nature of chromatin (before the term existed), and the first to suggest how stereochemistry might serve as the basis for the transmission of hereditary variation.

RevDate: 2021-07-06
CmpDate: 2021-07-06

Bassler BL (2020)

From Biochemistry to Genetics in a Flash of Light.

Genetics, 215(2):287-289.

The Genetics Society of America (GSA) Medal recognizes researchers who have made outstanding contributions to the field of genetics in the past 15 years. The 2019 GSA Medal is awarded to Bonnie L. Bassler of Princeton University and the Howard Hughes Medical Institute in recognition of her groundbreaking studies of bacterial chemical communication and regulation of group behaviors.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Bulik C, Kennedy M, T Wade (2020)

ANGI - Anorexia Nervosa Genetics Initiative.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):135-136.

Identification of genetic variants associated with eating disorders is underway. The Anorexia Nervosa Genetics Initiative, an initiative of the Klarman Family Foundation, has contributed to advancing the field, yielding a large-scale genome-wide association study published in Nature Genetics. Eight genetic variants significantly associated with anorexia nervosa were identified, along with patterns of genetic correlations that suggest both psychiatric and metabolic origins of this serious and life-threatening illness. This article details the role of Professor Nick Martin in contributing to this important collaboration.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Colodro-Conde L, B Couvy-Duchesne (2020)

Nick Martin's Contribution to GxE Research.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):131-134.

The study and identification of genotype-environment interactions (GxE) has been a hot topic in the field of human genetics for several decades. Yet the extent to which GxE contributes to human behavior variability, and its mechanisms, remains largely unknown. Nick Martin has contributed important advances to the field of GxE for human behavior, which include methodological developments, novel analyses and reviews. Here, we will first review Nick's contributions to the GxE research, which started during his PhD and consistently appears in many of his over 1000 publications. Then, we recount a project that led to an article testing the diathesis-stress model for the origins of depression. In this publication, we observed the presence of an interaction between polygenic risk scores for depression (the risk in our 'genotype') and stressful life events (the experiences from our 'environment'), which provided the first empirical support of this model.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Verhulst B (2020)

Sociopolitical Attitudes Through the Lens of Behavioral Genetics: Contributions from Dr Nicholas Martin.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):125-126.

Professor Nicholas (Nick) Martin spearheaded initial investigations into the genetic basis of political attitudes and behaviors, demonstrating that behaviors that are perceived as socially constructed could have a biological basis. As he showed, the typical mode of inheritance for political attitudes consists of approximately equal proportions of variance from additive genetic, shared environmental and unique environmental sources. This differs from other psychological variables, such as personality traits, which tend to be characterized by genetic and unique environmental sources of variation. By treating political attitudes as a model phenotype, Nick Martin was able to leverage the unique pattern of observed intergenerational transmission for political attitudes to reexamine the quintessential assumptions of the classical twin model. Specifically, by creatively leveraging the nuances of the genetic architecture of political attitudes, he was able to demonstrate the robustness of the equal environments assumption and suggest corrections to account for assortative mating. These advances have had a substantial impact on both the fields of political science, as well as behavioral and quantitative genetics.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Martin HC (2020)

Nature via Nurture, the Martin Way.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):137-138.

I recount early formative experiences with my father, Nick Martin.

RevDate: 2021-01-10
CmpDate: 2020-10-13

Haber M, Nassar J, Almarri MA, et al (2020)

A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years.

American journal of human genetics, 107(1):149-157.

The Iron and Classical Ages in the Near East were marked by population expansions carrying cultural transformations that shaped human history, but the genetic impact of these events on the people who lived through them is little-known. Here, we sequenced the whole genomes of 19 individuals who each lived during one of four time periods between 800 BCE and 200 CE in Beirut on the Eastern Mediterranean coast at the center of the ancient world's great civilizations. We combined these data with published data to traverse eight archaeological periods and observed any genetic changes as they arose. During the Iron Age (∼1000 BCE), people with Anatolian and South-East European ancestry admixed with people in the Near East. The region was then conquered by the Persians (539 BCE), who facilitated movement exemplified in Beirut by an ancient family with Egyptian-Lebanese admixed members. But the genetic impact at a population level does not appear until the time of Alexander the Great (beginning 330 BCE), when a fusion of Asian and Near Easterner ancestry can be seen, paralleling the cultural fusion that appears in the archaeological records from this period. The Romans then conquered the region (31 BCE) but had little genetic impact over their 600 years of rule. Finally, during the Ottoman rule (beginning 1516 CE), Caucasus-related ancestry penetrated the Near East. Thus, in the past 4,000 years, three limited admixture events detectably impacted the population, complementing the historical records of this culturally complex region dominated by the elite with genetic insights from the general population.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Kendler K (2020)

Recollections of Nick Martin: 1983-1986.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):82-83.

This short essay recounts the author's interactions with Nick Martin in the years they both worked with Lindon Eaves at Virginia Commonwealth University. Although coming from very different academic traditions, they became close colleagues building their young careers together. Nick generously shared his statistical genetics expertise and the author taught Nick a thing or two about psychiatric illness.

RevDate: 2020-08-24
CmpDate: 2020-08-24

Hermes TR, Frachetti MD, Voyakin D, et al (2020)

High mitochondrial diversity of domesticated goats persisted among Bronze and Iron Age pastoralists in the Inner Asian Mountain Corridor.

PloS one, 15(5):e0233333.

Goats were initially managed in the Near East approximately 10,000 years ago and spread across Eurasia as economically productive and environmentally resilient herd animals. While the geographic origins of domesticated goats (Capra hircus) in the Near East have been long-established in the zooarchaeological record and, more recently, further revealed in ancient genomes, the precise pathways by which goats spread across Asia during the early Bronze Age (ca. 3000 to 2500 cal BC) and later remain unclear. We analyzed sequences of hypervariable region 1 and cytochrome b gene in the mitochondrial genome (mtDNA) of goats from archaeological sites along two proposed transmission pathways as well as geographically intermediary sites. Unexpectedly high genetic diversity was present in the Inner Asian Mountain Corridor (IAMC), indicated by mtDNA haplotypes representing common A lineages and rarer C and D lineages. High mtDNA diversity was also present in central Kazakhstan, while only mtDNA haplotypes of lineage A were observed from sites in the Northern Eurasian Steppe (NES). These findings suggest that herding communities living in montane ecosystems were drawing from genetically diverse goat populations, likely sourced from communities in the Iranian Plateau, that were sustained by repeated interaction and exchange. Notably, the mitochondrial genetic diversity associated with goats of the IAMC also extended into the semi-arid region of central Kazakhstan, while NES communities had goats reflecting an isolated founder population, possibly sourced via eastern Europe or the Caucasus region.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Keller MC (2020)

Nick Martin as a Mentor - A Perspective.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):112-113.

Nick Martin has had an outsized influence on the field of behavioral genetics. Much of this influence stems from his mentorship of young scientists. I describe Nick's mentorship, and what makes it special, from a personal perspective.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Yang J (2020)

The SNP-Based Heritability - A Commentary on Yang et al. (2010).

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):118-119.

I write this commentary as a part of a special issue published in this journal to celebrate Nick Martin's contribution to the field of human genetics. In this commentary, I briefly describe the background of the Yang et al. (2010) study and show some of the unpublished details of this study, its contribution to tackling the missing heritability problem and Nick's contribution to the work.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Hewitt JK (2020)

Nick Martin and the 'Boulder Workshops'.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):80-81.

The author provides a personal perspective on Nick Martin's contributions to behavioral genetics and his role in the workshops on statistical genetics held annually in Boulder. Highlighted are Prof. Martin's seminal work on multivariate behavioral genetics, his career-long commitment to the value of the study of twins, and his enthusiastic support of the didactic mission of the 'Boulder workshops'. These contributions and activities continue unabated as we celebrate Prof. Martin's 70th birthday.

RevDate: 2021-05-04
CmpDate: 2021-05-04

Nyholt DR (2020)

Migraine, Human Genetics and a Passion for Science.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):105-106.

This note reflects on my collaborations with Nick Martin and the GenEpi group over the past 20 years. Over the past two decades, our work together has focused on gene mapping and understanding the genetic architecture of a wide range of traits with particular foci on migraine and common baldness. Our migraine research has included latent class and twin analyses cumulating in genome-wide association analyses which had identified 44 (34 new) risk variants for migraine. Leveraging these results through polygenic risk score analyses identified subgroups of patients likely to respond to triptans (an acute migraine drug), providing the first step toward precision medicine in migraine [Kogelman et al. (2019) Neurology Genetics, 5, e364].

RevDate: 2021-05-04
CmpDate: 2021-05-04

Hatemi P (2020)

The Barbarians Are at the Gate!.

Twin research and human genetics : the official journal of the International Society for Twin Studies, 23(2):120-122.

Nicholas Martin's contribution to science is well known. This article reviews one small part of his pioneering work that integrated political and social attitudes with behavior genetics. Nick Martin, in part, led to a paradigm shift in the social sciences, and in political science in particular. These fields were previously wed to behavioralist approaches and now routinely include genetic influences in both theoretical and empirical study. This article also celebrates a part of Nick's contribution that many do not know. Nick Martin does not just build science, he builds scientists. There are many who would not be academics or scholars without Nick's guidance, mentorship and friendship. This review was written to express the deepest appreciation for what he has done and continues to do for science and the scientist.

RevDate: 2021-04-22
CmpDate: 2021-02-23

Nekrutenko A, MC Schatz (2020)

In memory of James Taylor: the birth of Galaxy.

Genome biology, 21(1):105.

RevDate: 2021-04-20
CmpDate: 2020-08-04

Furtwängler A, Rohrlach AB, Lamnidis TC, et al (2020)

Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland.

Nature communications, 11(1):1915.

Genetic studies of Neolithic and Bronze Age skeletons from Europe have provided evidence for strong population genetic changes at the beginning and the end of the Neolithic period. To further understand the implications of these in Southern Central Europe, we analyze 96 ancient genomes from Switzerland, Southern Germany, and the Alsace region in France, covering the Middle/Late Neolithic to Early Bronze Age. Similar to previously described genetic changes in other parts of Europe from the early 3rd millennium BCE, we detect an arrival of ancestry related to Late Neolithic pastoralists from the Pontic-Caspian steppe in Switzerland as early as 2860-2460 calBCE. Our analyses suggest that this genetic turnover was a complex process lasting almost 1000 years and involved highly genetically structured populations in this region.

RevDate: 2021-04-21
CmpDate: 2021-04-21

Ogbunugafor CB (2020)

A Reflection on 50 Years of John Maynard Smith's "Protein Space".

Genetics, 214(4):749-754.

In 1970, John Maynard Smith published a letter, entitled "Natural Selection and the Concept of a Protein Space," that proposed a simple analogy for the incremental process of adaptive evolution. His "Protein Space" analogy contains the substrate for many central ideas in evolutionary genetics, and has motivated important discoveries within several subdisciplines of evolutionary science. In this Perspectives article, I commemorate the 50th anniversary of this seminal work by discussing its unique legacy and by describing its intriguing historical context. I propose that the Protein Space analogy is not only important because of its scientific richness, but also because of what it can teach us about the art of constructing useful and subversive analogies.


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.

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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 )