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Bibliography on: History of Genetics

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ESP: PubMed Auto Bibliography 20 Mar 2019 at 01:40 Created: 

History of Genetics

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

Citations The Papers (from PubMed®)

RevDate: 2019-03-12
CmpDate: 2019-03-12

Haloupek N (2019)

Barbara J. Meyer: 2018 Thomas Hunt Morgan Medal.

Genetics, 211(1):1-3.

The Genetics Society of America's (GSA) Thomas Hunt Morgan Medal honors researchers for lifetime achievement in genetics. The recipient of the 2018 Morgan Medal, Barbara J. Meyer of the Howard Hughes Medical Institute and the University of California, Berkeley, is recognized for her career-long, groundbreaking investigations of how chromosome behaviors are controlled. Meyer's work has revealed mechanisms of sex determination and dosage compensation in Caenorhabditis elegans that continue to serve as the foundation of diverse areas of study on chromosome structure and function today, nearly 40 years after she began her work on the topic.

RevDate: 2019-03-07
CmpDate: 2019-03-07

Harding SE, Channell G, MK Phillips-Jones (2018)

The discovery of hydrogen bonds in DNA and a re-evaluation of the 1948 Creeth two-chain model for its structure.

Biochemical Society transactions, 46(5):1171-1182.

We recall the experimental approaches involved in the discovery of hydrogen bonds in deoxyribonucleic acid (DNA) made 70 years ago by a team of scientists at University College Nottingham led by J.M. Gulland, and in relation to previous studies. This discovery proved an important step in the elucidation of the correct structure for DNA made by J.D. Watson and F.H.C. Crick, as acknowledged in 'The Double Helix'. At that time of the discovery, however, it was impossible to delineate between inter- and intra-chain hydrogen bonds. We also consider in the light of more recent hydrodynamic theory a tentative model for DNA proposed by Gulland's and D.O. Jordan's PhD student J.M. Creeth in his PhD thesis of 1948, with the correct prediction of two chains with a sugar-phosphate backbone on the exterior and hydrogen-bonded bases between the nucleotide bases of opposite chains in the interior. Our analysis shows that his incorporation of alternating breaks in the two-chain structure was not necessary to explain the viscosity data on scission of hydrogen bonds after titrating to high or low pH. Although Creeth's model is a depiction of DNA structure alone, he could not know whether the hydrogen bonding was intermolecular, although this was subsequently proved correct by others. The mechanisms by which replicative processes occurred were of course unknown at that time, and so, he could not have realised how closely his tentative model resembled steps in some viral replicative mechanisms involving the molecule of life that he was working on.

RevDate: 2019-03-05
CmpDate: 2019-03-05

Livi GP (2019)

Halcyon days of TOR: Reflections on the multiple independent discovery of the yeast and mammalian TOR proteins.

Gene, 692:145-155.

The quest to elucidate the molecular mechanism of action of rapamycin in the early 1990s led to the discovery of the novel TOR (target of rapamycin) proteins in yeast and mammalian cells. This was a major breakthrough that resulted in the development of new rapamycin analogs as anti-cancer agents, and launched new research that revealed the pre-eminent biological role of mTOR (mammalian or mechanistic TOR). Beyond mediating rapamycin sensitivity, the TOR proteins are nutrient sensing protein kinases, conserved from yeast to man, with a core function in regulating cell growth, metabolism and overall cell survival. There have been many insightful historical accounts of the origins of TOR; however, the complete TOR dossier would benefit from a chapter on the untold story of the simultaneous co-discovery of the yeast TOR proteins by two independent laboratories, one that is inclusive of the discoveries made at the former SmithKline Beecham (legacy GlaxoSmithKline). Accordingly, this comprehensive retrospective retraces the provenance of yeast TOR (circa 1990-1996) and highlights the early groundbreaking publications that revealed the identity of the TOR genes and proteins. It also commemorates key companion papers which helped to clarify yeast TOR gene nomenclature, identified structural motifs in the predicted TOR protein sequences, demonstrated interactions between yeast FKBP12-rapamycin and TOR, characterized mutations responsible for drug resistance, and began to decipher TOR protein function; some of these crucial early studies appeared in this journal (e.g., Koser et al., 1993. Gene 129, 159-165; Cafferkey et al., 1994. Gene 141, 133-136; Freeman and Livi, 1996. Gene 172, 143-147). A period of intensive investigation, events are portrayed chronologically and juxtaposed alongside the independent parallel efforts to identify and purify mTOR. Finally, in a broader historical context, TOR and mTOR are examined a posteriori as paragons of multiple discovery, illustrating how this common phenomenon (also known as simultaneous invention) can greatly accelerate problem solving and advance human knowledge in a fast-breaking area of scientific research.

RevDate: 2019-02-28
CmpDate: 2019-02-28

Anonymous (2018)

Society for Glycobiology Awards - 2018.

Glycobiology, 28(12):906-909.

RevDate: 2019-02-28
CmpDate: 2019-02-28

Landau M (2017)

An Interview with Robert Califf.

Clinical chemistry, 63(1):5-13.

RevDate: 2019-02-26
CmpDate: 2019-02-26

Charlesworth D (2018)

Mogens Westergaard's Contributions to Understanding Sex Chromosomes.

Genetics, 210(4):1143-1149.

A long-standing question in biology concerns the genetic mechanisms by which two sexes can evolve (botanists call this the dioecious condition and zoologists call it gonochory) from a functionally ancestral hermaphroditic state (without separate sexes). In 1932, H. J. Muller, one of the great 20th century geneticists but also a fine evolutionary biologist, pointed out that two mutations were necessary. It was therefore puzzling that sex determination often involves a single genetic locus. Muller believed that the evolution of a single-gene system was possible, because maize geneticists had synthesized a single-gene system with separate sexes. However, this system is highly artificial, requiring geneticists to actively eliminate the wild-type allele at one of the two genes involved. This genetic system cannot therefore explain the natural evolution of dioecy. In 1958, Westergaard reviewed studies from a diversity of flowering plants, and showed that the genetics of natural sex determination in plants does not support the maize system. Instead, the genetic results pointed to a model involving two separate factors, with close linkage creating a single genetic locus. Moreover, Westergaard also pointed out that a two-gene model offers a natural explanation for the evolution of suppressed recombination between sex chromosome pairs. Studying plants allowed genetic analyses of the early steps in the evolution of dioecy, using dioecious species that evolved recently from species without separate sexes, whereas Muller failed to fully understand such evolutionary changes because he focused on animals, where later changes have often happened and obscured the early stages.

RevDate: 2019-02-26
CmpDate: 2019-02-26

Haloupek N (2018)

Mariana Wolfner: 2018 Genetics Society of America Medal.

Genetics, 210(4):1139-1141.

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 2018 GSA Medal has been awarded to Mariana Wolfner of Cornell University for her work on reproductive processes that occur around the time of fertilization. This includes characterization of seminal proteins in Drosophila melanogaster, which has uncovered a wealth of information about sexual conflict in evolution.

RevDate: 2019-02-25
CmpDate: 2019-02-25

Ma Q, Adua E, Boyce MC, et al (2018)

IMass Time: The Future, in Future!.

Omics : a journal of integrative biology, 22(11):679-695.

Joseph John Thomson discovered and proved the existence of electrons through a series of experiments. His work earned him a Nobel Prize in 1906 and initiated the era of mass spectrometry (MS). In the intervening time, other researchers have also been awarded the Nobel Prize for significant advances in MS technology. The development of soft ionization techniques was central to the application of MS to large biological molecules and led to an unprecedented interest in the study of biomolecules such as proteins (proteomics), metabolites (metabolomics), carbohydrates (glycomics), and lipids (lipidomics), allowing a better understanding of the molecular underpinnings of health and disease. The interest in large molecules drove improvements in MS resolution and now the challenge is in data deconvolution, intelligent exploitation of heterogeneous data, and interpretation, all of which can be ameliorated with a proposed IMass technology. We define IMass as a combination of MS and artificial intelligence, with each performing a specific role. IMass will offer advantages such as improving speed, sensitivity, and analyses of large data that are presently not possible with MS alone. In this study, we present an overview of the MS considering historical perspectives and applications, challenges, as well as insightful highlights of IMass.

RevDate: 2019-02-25
CmpDate: 2019-02-25

Wilson JM (2018)

University Flunk-Out to Genomics Pioneer: An Interview with George Church, PhD.

Human gene therapy. Clinical development, 29(3):118-120.

RevDate: 2019-02-19
CmpDate: 2019-02-18

Morganti S, Tarantino P, Ferraro E, et al (2019)

Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life.

Critical reviews in oncology/hematology, 133:171-182.

The finalization of the Human Genome Project in 2003 paved the way for a deeper understanding of cancer, favouring a faster progression towards "personalized" medicine. Research in oncology has progressively focused on the sequencing of cancer genomes, to better understand the genetic basis of tumorigenesis and identify actionable alterations to guide cancer therapy. Thanks to the development of next-generation-sequencing (NGS) techniques, sequencing of tumoral DNA is today technically easier, faster and cheaper. Commercially available NGS panels enable the detection of single or global genomic alterations, namely gene mutation and mutagenic burden, both on germline and somatic DNA, potentially predicting the response or resistance to cancer treatments. Profiling of tumor DNA is nowadays a standard in cancer research and treatment. In this review we discuss the history, techniques and applications of NGS in cancer care, under a "personalized tailored therapy" perspective.

RevDate: 2019-02-19
CmpDate: 2019-02-18

Karlin-Neumann G, F Bizouarn (2018)

Entering the Pantheon of 21st Century Molecular Biology Tools: A Perspective on Digital PCR.

Methods in molecular biology (Clifton, N.J.), 1768:3-10.

After several decades of relatively modest use, in the last several years digital PCR (dPCR) has grown to become the new gold standard for nucleic acid quantification. This coincides with the commercial availability of scalable, affordable, and reproducible droplet-based dPCR platforms in the past five years and has led to its rapid dissemination into diverse research fields and testing applications. Among these, it has been adopted most vigorously into clinical oncology where it is beginning to be used for plasma genotyping in cancer patients undergoing treatment. Additionally, innovation across the scientific community has extended the benefits of reaction partitioning beyond DNA and RNA quantification alone, and demonstrated its usefulness in evaluating DNA size and integrity, the physical linkage of colocalized markers, levels of enzyme activity and specific cation concentrations in a sample, and more. As dPCR technology gains in popularity and breadth, its power and simplicity can often be taken for granted; thus, the reader is reminded that due diligence must be exercised in order to make claims not only of precision but also of accuracy in their measurements.

RevDate: 2019-02-13

Lombardo PA (2018)

The power of heredity and the relevance of eugenic history.

Genetics in medicine : official journal of the American College of Medical Genetics, 20(11):1305-1311.

RevDate: 2019-02-12

Haloupek N (2018)

Job Dekker: 2018 Edward Novitski Prize.

Genetics, 210(3):745-746.

The Genetics Society of America's (GSA) Edward Novitski Prize is awarded to researchers who have solved challenging problems in genetics through experiments that demonstrate exceptional creativity and ingenuity. Job Dekker of the University of Massachusetts Medical School has been selected for the 2018 award in recognition of his innovative approach to understanding chromosome interactions and nuclear organization. Among Dekker's contributions are the development of the now-ubiquitous approach of chromosome conformation capture and the discovery of topologically associating domains.

RevDate: 2019-02-12

Mezquita-Pla J (2018)

Gordon H. Dixon's trace in my personal career and the quantic jump experienced in regulatory information.

Systems biology in reproductive medicine, 64(6):448-468.

Even before Rosalin Franklin had discovered the DNA double helix, in her impressive X-ray diffraction image pattern, Erwin Schröedinger, described, in his excellent book, What is Life, how the finding of aperiodic crystals in biological systems surprised him (an aperiodic crystal, which, in my opinion is the material carrier of life). In the 21st century and still far from being able to define life, we are attending to a quick acceleration of knowledge on regulatory information. With the discovery of new codes and punctuation marks, we will greatly increase our understanding in front of an impressive avalanche of genomic sequences. Trifonov et al. defined a genetic code as a widespread DNA sequence pattern that carries a message with an impact on biology. These patterns are largely captured in transcribed messages that give meaning and identity to the particular cells. In this review, I will go through my personal career in and after my years of work in the laboratory of Gordon H. Dixon, extending toward the impressive acquisition of new knowledge on regulatory information and genetic codes provided by remarkable scientists in the field. Abbreviations: CA II: carbonic anhydridase II (chicken); Car2: carbonic anhydridase 2 (mouse); CpG islands: short (>0.5 kb) stretches of DNA with a G+C content ≥55%; DNMT1: DNA methyltransferases 1; DNMT3b: DNA methyltransferases 3B; DSB: double-strand DNA breaks; ERT: endogenous retrotransposon; ERV: endogenous retroviruses; ES cells: embryonic stem cells; GAPDH: glyceraldehide phosphate dehydrogenase; H1: histone H1; HATs: histone acetyltransferases; HDACs: histone deacetylases; H3K4me3: histone 3 trimethylated at lys 4; H3K79me2: histone 3 dimethylated at lys 79; HMG: high mobility group proteins; HMT: histone methyltransferase; HP1: heterochromatin protein 1; HR: homologous recombination; HSE: heat-shock element; ICRs: imprinted control regions; IRF: interferon regulatory factor; LDH-A/-B: lactate dehydrogenase A/B; LTR: long terminal repeats; MeCP2: methyl CpG binding protein 2; OCT4: octamer-binding transcription factor 4; PAF1: RNA Polymerase II associated factor 1; piRNA: PIWI-interacting RNA; poly(A) tails: poly-adenine tails; PRC2: polycomb repressive complex 2; PTMs: post-translational modifications; SIRT 1: sirtuin 1, silent information regulator; STAT3: signal transducer and activator of transcription; tRNAs: transfer RNA; tRFs: tRNA-derived fragments; TSS: transcription start site; TE: transposable elements; UB I: polyubiquitin I; UB II: polyubiquitin II; UBE 2N: ubiquitin conjugating enzyme E2N; 5'-UTR: 5'-untranslated sequences; 3'-UTR: 3'-untranslated sequences.

RevDate: 2019-02-08

Tavaré S, EO Buzbas (2018)

Introduction to the Paul Joyce special issue.

Theoretical population biology, 122:1-2.

RevDate: 2019-02-07

Viggiano D, Zacchia M, Simonelli F, et al (2018)

The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 35(Suppl 70):95-100.

RevDate: 2019-02-08

Krone SM (2018)

Paul Joyce and the infinite alleles model.

Theoretical population biology, 122:3-4.

Paul Joyce's work touched on a variety of topics in population genetics-from mathematical models of idealized systems to working closely with biologists on experimental evolution and landscape genetics. I will focus on his earlier mathematical/statistical work that centered on the infinite alleles model.

RevDate: 2019-02-06

Charney AW (2018)

Pamela Sklar.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 43(5):1191-1192.

RevDate: 2019-02-04

Jonna S, Giaccone G, DS Subramaniam (2018)

Understanding molecular diagnostic technology in oncology through the lens of lung cancer.

Discovery medicine, 26(141):21-29.

Historically, advanced lung cancer conferred a poor prognosis, and chemotherapy only improved outcomes in patients with good performance status. The identification of certain molecular subtypes of non-small cell lung cancer changed the treatment paradigm by incorporating tumor genomic information into clinical decision-making. To meet the demands of this emerging approach, genomic technology rapidly expanded in an effort to detect specific driver mutations. While polymerase-chain reaction testing, immunohistochemistry, and fluorescent-in-situ hybridization have been standard-of-care, next-generation sequencing is increasingly replacing older technologies. Plasma-based testing is also gaining use given its convenience. Advances in molecular technology in this new era of precision medicine have led to the parallel development of companion diagnostics and novel tyrosine kinase inhibitors.

RevDate: 2019-01-23
CmpDate: 2019-01-23

Papatriantafyllou M (2018)

Centre for Genomic Regulation - a hub for Integrative Biology in Barcelona.

FEBS letters, 592(6):833-837.

RevDate: 2019-01-15
CmpDate: 2019-01-15

Tan SY, JK Furubayashi (2018)

Jacques Lucien Monod (1910-1976): Co-discoverer of the operon system.

Singapore medical journal, 59(10):555-556.

RevDate: 2019-01-15
CmpDate: 2019-01-15

Anonymous (2018)

James Watson at 90.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 32(6):2901-2902.

RevDate: 2019-01-15
CmpDate: 2019-01-15

Kropinski AM (2018)

Bacteriophage research - What we have learnt and what still needs to be addressed.

Research in microbiology, 169(9):481-487.

Research on bacteriophages has significantly enhanced our understanding of molecular biology, the genomes of prokaryotic cells, and viral ecology. Phages and lysins offer a viable alternative to the declining utility of antibiotics in this post-antibiotic era. They also provide ideal teaching tools for genomics and bioinformatics. This article touches on the first 100 years of phage research with the author commenting on what he thinks are the highlights, and what needs to be addressed.

RevDate: 2019-01-07
CmpDate: 2019-01-07

Godde K (2018)

A new analysis interpreting Nilotic relationships and peopling of the Nile Valley.

Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen, 69(4):147-157.

The process of the peopling of the Nile Valley likely shaped the population structure and early biological similarity of Egyptians and Nubians. As others have noted, affinity among Nilotic populations was due to an aggregation of events, including environmental, linguistic, and sociopolitical changes over a great deal of time. This study seeks to evaluate the relationships of Nubian and Egyptian groups in the context of the original peopling event. Cranial nonmetric traits from 18 Nubian and Egyptian samples, spanning Lower Egypt to Lower Nubia and approximately 7400 years, were analyzed using Mahalanobis D2 as a measure of biological distance. A principal coordinates analysis and spatial-temporal model were applied to these data. The results reveal temporal and spatial patterning consistent with documented events in Egyptian and Nubian population history. Moreover, the Mesolithic Nubian sample clustered with later Nubian and Egyptian samples, indicating that events prior to the Mesolithic were important in shaping the later genetic patterning of the Nubian population. Later contact through the establishment of the Egyptian fort at Buhen, Kerma's position as a strategic trade center along the Nile, and Egyptian colonization at Tombos maintained genetic similarity among the populations.

RevDate: 2019-01-07
CmpDate: 2019-01-07

von Heijne G (2018)

Membrane protein serendipity.

The Journal of biological chemistry, 293(10):3470-3476.

My scientific career has taken me from chemistry, via theoretical physics and bioinformatics, to molecular biology and even structural biology. Along the way, serendipity led me to work on problems such as the identification of signal peptides that direct protein trafficking, membrane protein biogenesis, and cotranslational protein folding. I've had some great collaborations that came about because of a stray conversation or from following up on an interesting paper. And I've had the good fortune to be asked to sit on the Nobel Committee for Chemistry, where I am constantly reminded of the amazing pace and often intricate history of scientific discovery. Could I have planned this? No way! I just went with the flow ….

RevDate: 2019-01-07
CmpDate: 2019-01-07

Lebel RR (2018)

50 Years Ago in The Journal of Pediatrics: A Familial Syndrome of Renal, Genital, and Middle Ear Anomalies.

The Journal of pediatrics, 192:129.

RevDate: 2019-01-03
CmpDate: 2019-01-03

Leitzmann C (2018)

Whole new concepts of nutrition.

European journal of clinical nutrition, 72(1):1-3.

RevDate: 2019-01-02
CmpDate: 2019-01-02

Lowe JWE (2018)

Sequencing through thick and thin: Historiographical and philosophical implications.

Studies in history and philosophy of biological and biomedical sciences, 72:10-27.

DNA sequencing has been characterised by scholars and life scientists as an example of 'big', 'fast' and 'automated' science in biology. This paper argues, however, that these characterisations are a product of a particular interpretation of what sequencing is, what I call 'thin sequencing'. The 'thin sequencing' perspective focuses on the determination of the order of bases in a particular stretch of DNA. Based upon my research on the pig genome mapping and sequencing projects, I provide an alternative 'thick sequencing' perspective, which also includes a number of practices that enable the sequence to travel across and be used in wider communities. If we take sequencing in the thin manner to be an event demarcated by the determination of sequences in automated sequencing machines and computers, this has consequences for the historical analysis of sequencing projects, as it focuses attention on those parts of the work of sequencing that are more centralised, fast (and accelerating) and automated. I argue instead that sequencing can be interpreted as a more open-ended process including activities such as the generation of a minimum tile path or annotation, and detail the historiographical and philosophical consequences of this move.

RevDate: 2018-12-31
CmpDate: 2018-12-31

Rosbash M (2017)

Life Is an N of 1.

Cell, 171(6):1241-1245.

RevDate: 2018-12-31
CmpDate: 2018-12-31

Young MW (2017)

As Time Flew By.

Cell, 171(6):1236-1240.

RevDate: 2018-12-31
CmpDate: 2018-12-31

Yuste R (2017)

The Origins of the BRAIN Initiative: A Personal Journey.

Cell, 171(4):726-735.

RevDate: 2018-12-21
CmpDate: 2018-12-21

van Dijk PJ, Weissing FJ, THN Ellis (2018)

How Mendel's Interest in Inheritance Grew out of Plant Improvement.

Genetics, 210(2):347-355.

Despite the fact that Gregor Mendel is generally respected as the founder of genetics, little is known about the origin of and motivation for his revolutionary work. No primary sources are known that discuss his work during the period of his pea crossing experiments. Here, we report on two previously unknown interconnected local newspaper articles about Mendel's work that predate his famous Pisum lectures by 4 years. These articles describe Mendel as a plant breeder and a horticulturist. We argue that Mendel's initial interests concerned crop improvement, but that with time he became more interested in fundamental questions about inheritance, fertilization, and natural hybridization.

RevDate: 2018-12-21
CmpDate: 2018-12-21

Haloupek N (2018)

Philip Hieter: 2018 George W. Beadle Award.

Genetics, 210(2):345-346.

The Genetics Society of America's (GSA) George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake. For his work fostering communication and collaboration among members of the many subfields of genetics, Philip Hieter of the University of British Columbia has been named 2018's recipient of the award. Among his contributions are many initiatives that aim to better link human and model organism geneticists, including the Canadian Rare Diseases Models and Mechanisms Network-a consortium that connects investigators who identify rare disease genes in humans to basic scientists who can study the genes in model organisms.

RevDate: 2018-12-21
CmpDate: 2018-12-21

Morrison PJ (2018)

Medical Myths and Legends: Presidential Address to the Ulster Medical Society. 6th October 2016.

The Ulster medical journal, 87(2):102-108.

RevDate: 2018-12-20
CmpDate: 2018-12-20

Segal NL (2018)

Symposium in Honor of Irving I. Gottesman (December 29, 1930-June 29, 2016).

Twin research and human genetics : the official journal of the International Society for Twin Studies, 21(4):281-284.

The June 2016 death of our esteemed colleague, Dr Irving I. Gottesman, was felt as an extreme loss at so many levels by colleagues, students, friends, and family across the globe. Irv's stellar contributions to the field of twin research will continue to be remembered and cited for many years to come. In commemoration of his life and work, I organized a symposium at the 16th meeting of the International Society for Twin Studies, held in Madrid, Spain, November 16-18, 2017. The panelists included mostly former students, as well as colleagues, who presented their scientific research and personal remarks reflecting Irv's profound influence in shaping their lives and careers. A chronology of Irv's academic positions and honors is included in the introduction to this special issue of Twin Research and Human Genetics, followed by brief sketches of the panel participants; their scholarly papers and personal reflections follow.

RevDate: 2018-12-12
CmpDate: 2018-12-12

Leeming W, A Barahona (2018)

Synthesis, convergence, and differences in the entangled histories of cytogenetics in medicine: A comparative study of Canada and Mexico.

Studies in history and philosophy of biological and biomedical sciences, 71:8-16.

Most historians of science and medicine agree that medical interest in genetics intensified after 1930, and interest in the relationship of radiation damage and genetics continued and expanded after World War II. Moreover, they maintain that the synthesis and convergence of human genetics and cytological techniques in European centers resulted in their dissemination to centers in the United States, resulting in a new field of expertise focused on medicine and clinical research, known as cytogenetics. In this article, we broaden the scope of the inquiry by showing how the early histories of cytogenetics in Canada and Mexico unfolded against strikingly different backgrounds in clinical research and the delivery of health care. We thus argue that the field of cytogenetics did not emerge in a straightforward manner and develop in the same way in all countries. The article provides a brief background to the history of human cytogenetics, and then outlines key developments related to the early adoption of cytogenetics in Canada and Mexico. Conclusions are then drawn using comparisons of the different ways in which local determinants affected adoption. We then propose directions for future study focused on the ways in which circuits of practices, collaborative research, and transfers of knowledge have shaped how cytogenetics has come to be organised in medicine around the world.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Schaeffer SW (2018)

Muller "Elements" in Drosophila: How the Search for the Genetic Basis for Speciation Led to the Birth of Comparative Genomics.

Genetics, 210(1):3-13.

The concept of synteny, or conservation of genes on the same chromosome, traces its origins to the early days of Drosophila genetics. This discovery emerged from comparisons of linkage maps from different species of Drosophila with the goal of understanding the process of speciation. H. J. Muller published a landmark article entitled Bearings of the "Drosophila" work on systematics, where he synthesized genetic and physical map data and proposed a model of speciation and chromosomal gene content conservation. These models have withstood the test of time with the advent of molecular genetic analysis from protein to genome level variation. Muller's ideas provide a framework to begin to answer questions about the evolutionary forces that shape the structure of the genome.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Romero R (2018)

A Profile of Dennis Lo, DM, DPhil, FRCP, FRCPath, FRS.

American journal of obstetrics and gynecology, 218(4):371-378.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Brunner HG (2018)

2017 Curt Stern Award Introduction: Nico Katsanis.

American journal of human genetics, 102(3):354.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Cox NJ (2018)

2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.

American journal of human genetics, 102(3):342-349.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Stolarek I, Juras A, Handschuh L, et al (2018)

A mosaic genetic structure of the human population living in the South Baltic region during the Iron Age.

Scientific reports, 8(1):2455.

Despite the increase in our knowledge about the factors that shaped the genetic structure of the human population in Europe, the demographic processes that occurred during and after the Early Bronze Age (EBA) in Central-East Europe remain unclear. To fill the gap, we isolated and sequenced DNAs of 60 individuals from Kowalewko, a bi-ritual cemetery of the Iron Age (IA) Wielbark culture, located between the Oder and Vistula rivers (Kow-OVIA population). The collected data revealed high genetic diversity of Kow-OVIA, suggesting that it was not a small isolated population. Analyses of mtDNA haplogroup frequencies and genetic distances performed for Kow-OVIA and other ancient European populations showed that Kow-OVIA was most closely linked to the Jutland Iron Age (JIA) population. However, the relationship of both populations to the preceding Late Neolithic (LN) and EBA populations were different. We found that this phenomenon is most likely the consequence of the distinct genetic history observed for Kow-OVIA women and men. Females were related to the Early-Middle Neolithic farmers, whereas males were related to JIA and LN Bell Beakers. In general, our findings disclose the mechanisms that could underlie the formation of the local genetic substructures in the South Baltic region during the IA.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Metcalfe SA (2018)

Genetic counselling, patient education, and informed decision-making in the genomic era.

Seminars in fetal & neonatal medicine, 23(2):142-149.

Genomic technologies are now being applied to reproductive genetic screening. Circulating cell-free DNA testing in pregnancy for fetal chromosomal abnormalities is becoming more widely used as a screening test, and expanded carrier screening for autosomal and X-linked recessive conditions for more than a hundred conditions is available to couples for testing before and during pregnancy. These are most typically available as a commercial test. The purpose of reproductive genetic screening is to facilitate autonomous reproductive choices. Previous studies would suggest that many women do not make informed decisions about prenatal genetic screening, and the introduction of genomic technologies has generally added to the ethical debate. Appropriate pre-test genetic counselling is recommended, and healthcare providers should include information that is balanced, accurate and up-to-date, comprising written and/or e-learning tools, as well as providing psychosocial support so that couples consider the pros and cons of being tested and can make informed decisions.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Harris S, Reed D, NL Vora (2018)

Screening for fetal chromosomal and subchromosomal disorders.

Seminars in fetal & neonatal medicine, 23(2):85-93.

Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening. Studies continue to demonstrate that cfDNA screening for common aneuploidies has impressive detection rates with low false-positive rates. The technology continues to push the boundaries of prenatal screening as it is now possible to screen for less common aneuploidies and subchromosomal disorders. The optimal method for incorporating cfDNA screening into existing programs continues to be debated. It is important that obstetricians understand the biological foundations and limitations of this technology and provide patients with up-to-date information regarding cfDNA screening.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Gramelsberger G (2017)

[Big Data Revolution or Data Hubris? : On the Data Positivism of Molecular Biology].

NTM, 25(4):459-483.

Genome data, the core of the 2008 proclaimed big data revolution in biology, are automatically generated and analyzed. The transition from the manual laboratory practice of electrophoresis sequencing to automated DNA-sequencing machines and software-based analysis programs was completed between 1982 and 1992. This transition facilitated the first data deluge, which was considerably increased by the second and third generation of DNA-sequencers during the 2000s. However, the strategies for evaluating sequence data were also transformed along with this transition. The paper explores both the computational strategies of automation, as well as the data evaluation culture connected with it, in order to provide a complete picture of the complexity of today's data generation and its intrinsic data positivism. This paper is thereby guided by the question, whether this data positivism is the basis of the big data revolution of molecular biology announced today, or it marks the beginning of its data hubris.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Rose NC, M Wick (2018)

Carrier screening for single gene disorders.

Seminars in fetal & neonatal medicine, 23(2):78-84.

Screening for genetic disorders began in 1963 with the initiation of newborn screening for phenylketonuria. Advances in molecular technology have made both newborn screening for newborns affected with serious disorders, and carrier screening of individuals at risk for offspring with genetic disorders, more complex and more widely available. Carrier screening today can be performed secondary to family history-based screening, ethnic-based screening, and expanded carrier screening (ECS). ECS is panel-based screening, which analyzes carrier status for hundreds of genetic disorders irrespective of patient race or ethnicity. In this article, we review the historical and current aspects of carrier screening for single gene disorders, including future research directions.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Sancar A (2017)

Claud S. Rupert (1919-2017): The Father of DNA Repair.

Photochemistry and photobiology, 93(4):1133-1134.

RevDate: 2018-12-11
CmpDate: 2018-12-11

O'Malley BW (2016)

Origins of the Field of Molecular Endocrinology: A Personal Perspective.

Molecular endocrinology (Baltimore, Md.), 30(10):1015-1018.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Nilson JH (2016)

Bidding a Fond Farwell to Molecular Endocrinology.

Molecular endocrinology (Baltimore, Md.), 30(10):1023-1024.

RevDate: 2018-12-11
CmpDate: 2018-12-11

Thompson EB (2016)

Reflections on the Merger of Molecular Endocrinology and Endocrinology.

Molecular endocrinology (Baltimore, Md.), 30(10):1019-1020.

RevDate: 2018-10-11
CmpDate: 2018-10-11

Lieberman J (2018)

Unveiling the RNA World.

The New England journal of medicine, 379(13):1278-1280.

RevDate: 2018-11-14
CmpDate: 2018-07-05

Weinberg SM, Cornell R, EJ Leslie (2018)

Craniofacial genetics: Where have we been and where are we going?.

PLoS genetics, 14(6):e1007438 pii:PGENETICS-D-18-00895.

RevDate: 2018-11-14
CmpDate: 2018-09-26

Jarvik GP (2018)

Arno G. Motulsky, MD (1923-2018): Holocaust survivor who cofounded the field of medical genetics.

Genetics in medicine : official journal of the American College of Medical Genetics, 20(5):477-479.

RevDate: 2018-11-14
CmpDate: 2018-08-15

Doctrow B (2018)

QnAs with Howard Y. Chang.

Proceedings of the National Academy of Sciences of the United States of America, 115(19):4805-4806.

RevDate: 2018-11-14
CmpDate: 2018-09-24

Elloumi-Zghal H, H Chaabouni Bouhamed (2018)

Genetics and genomic medicine in Tunisia.

Molecular genetics & genomic medicine, 6(2):134-159.

RevDate: 2018-11-14
CmpDate: 2018-09-24

Leppig KA (2018)

Collaborations in medical genetics: 10-Year history of an ongoing Vietnamese-North American Collaboration.

Molecular genetics & genomic medicine, 6(2):129-133.

RevDate: 2018-08-29
CmpDate: 2018-08-29

Hill WG (2018)

Contributions to quantitative genetic models by Yule and by Weinberg prior to Fisher 1918.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 135(2):93-94.

RevDate: 2018-04-02
CmpDate: 2018-04-02

Ferguson-Smith AC, MS Bartolomei (2018)

Obituary: Denise Barlow (1950-2017).

Development (Cambridge, England), 145(5): pii:145/5/dev164616.

Anne Ferguson-Smith and Marisa Bartolomei look back at the life and science of Denise Barlow, a pioneer in genomic imprinting and epigenetics.

RevDate: 2018-11-14
CmpDate: 2018-06-25

Rusu I, Modi A, Vai S, et al (2018)

Maternal DNA lineages at the gate of Europe in the 10th century AD.

PloS one, 13(3):e0193578 pii:PONE-D-17-33927.

Given the paucity of archaeogenetic data available for medieval European populations in comparison to other historical periods, the genetic landscape of this age appears as a puzzle of dispersed, small, known pieces. In particular, Southeastern Europe has been scarcely investigated to date. In this paper, we report the study of mitochondrial DNA in 10th century AD human samples from Capidava necropolis, located in Dobruja (Southeastern Romania, Southeastern Europe). This geographical region is particularly interesting because of the extensive population flux following diverse migration routes, and the complex interactions between distinct population groups during the medieval period. We successfully amplified and typed the mitochondrial control region of 10 individuals. For five of them, we also reconstructed the complete mitochondrial genomes using hybridization-based DNA capture combined with Next Generation Sequencing. We have portrayed the genetic structure of the Capidava medieval population, represented by 10 individuals displaying 8 haplotypes (U5a1c2a, V1a, R0a2'3, H1, U3a, N9a9, H5e1a1, and H13a1a3). Remarkable for this site is the presence of both Central Asiatic (N9a) and common European mtDNA haplotypes, establishing Capidava as a point of convergence between East and West. The distribution of mtDNA lineages in the necropolis highlighted the existence of two groups of two individuals with close maternal relationships as they share the same haplotypes. We also sketch, using comparative statistical and population genetic analyses, the genetic relationships between the investigated dataset and other medieval and modern Eurasian populations.

RevDate: 2018-10-16
CmpDate: 2018-10-16

Jones ED (2018)

Ancient DNA: a history of the science before Jurassic Park.

Studies in history and philosophy of biological and biomedical sciences, 68-69:1-14.

RevDate: 2018-11-13
CmpDate: 2018-10-02

Salzano FM (2018)

The Evolution of Science in a Latin-American Country: Genetics and Genomics in Brazil.

Genetics, 208(3):823-832.

This article begins with a brief overview of the history of Brazil and that of Brazilian science, from the European discovery of the country in 1500 up to the early 21st century. The history of the fields of genetics and genomics, from the 1930s, is then first examined from the focal point of the lives and publications of the three persons who are generally considered to be the founders of genetics in Brazil (C. A. Krug, F. G. Brieger, and A. Dreyfus), and then by 12 other researchers up to 1999. The area of molecular genetics and genomics from 2000 to present is then described. Despite the problems of underdevelopment and the periodical political and economic crises that have affected life in Brazil, the fields of genetics and genomics in Brazil can be regarded as having developed at an appropriate pace, and have contributed in several major ways to world science.

RevDate: 2018-11-13
CmpDate: 2018-09-19

Palkopoulou E, Lipson M, Mallick S, et al (2018)

A comprehensive genomic history of extinct and living elephants.

Proceedings of the National Academy of Sciences of the United States of America, 115(11):E2566-E2574.

Elephantids are the world's most iconic megafaunal family, yet there is no comprehensive genomic assessment of their relationships. We report a total of 14 genomes, including 2 from the American mastodon, which is an extinct elephantid relative, and 12 spanning all three extant and three extinct elephantid species including an ∼120,000-y-old straight-tusked elephant, a Columbian mammoth, and woolly mammoths. Earlier genetic studies modeled elephantid evolution via simple bifurcating trees, but here we show that interspecies hybridization has been a recurrent feature of elephantid evolution. We found that the genetic makeup of the straight-tusked elephant, previously placed as a sister group to African forest elephants based on lower coverage data, in fact comprises three major components. Most of the straight-tusked elephant's ancestry derives from a lineage related to the ancestor of African elephants while its remaining ancestry consists of a large contribution from a lineage related to forest elephants and another related to mammoths. Columbian and woolly mammoths also showed evidence of interbreeding, likely following a latitudinal cline across North America. While hybridization events have shaped elephantid history in profound ways, isolation also appears to have played an important role. Our data reveal nearly complete isolation between the ancestors of the African forest and savanna elephants for ∼500,000 y, providing compelling justification for the conservation of forest and savanna elephants as separate species.

RevDate: 2018-10-23
CmpDate: 2018-10-23

Anonymous (2018)

Alternative Genetics.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 32(2):537-539.

RevDate: 2018-07-23
CmpDate: 2018-07-23

Silva L (2018)

A Brief History of Biochemical Genetics' 50 Years and a Reflection About Past and Present Research Directions.

Biochemical genetics, 56(1-2):1-6.

RevDate: 2018-09-04
CmpDate: 2018-09-04

Rose JP, Kleist TJ, Löfstrand SD, et al (2018)

Phylogeny, historical biogeography, and diversification of angiosperm order Ericales suggest ancient Neotropical and East Asian connections.

Molecular phylogenetics and evolution, 122:59-79.

Inferring interfamilial relationships within the eudicot order Ericales has remained one of the more recalcitrant problems in angiosperm phylogenetics, likely due to a rapid, ancient radiation. As a result, no comprehensive time-calibrated tree or biogeographical analysis of the order has been published. Here, we elucidate phylogenetic relationships within the order and then conduct time-dependent biogeographical and diversification analyses by using a taxon and locus-rich supermatrix approach on one-third of the extant species diversity calibrated with 23 macrofossils and two secondary calibration points. Our results corroborate previous studies and also suggest several new but poorly supported relationships. Newly suggested relationships are: (1) holoparasitic Mitrastemonaceae is sister to Lecythidaceae, (2) the clade formed by Mitrastemonaceae + Lecythidaceae is sister to Ericales excluding balsaminoids, (3) Theaceae is sister to the styracoids + sarracenioids + ericoids, and (4) subfamilial relationships with Ericaceae suggest that Arbutoideae is sister to Monotropoideae and Pyroloideae is sister to all subfamilies excluding Arbutoideae, Enkianthoideae, and Monotropoideae. Our results indicate Ericales began to diversify 110 Mya, within Indo-Malaysia and the Neotropics, with exchange between the two areas and expansion out of Indo-Malaysia becoming an important area in shaping the extant diversity of many families. Rapid cladogenesis occurred along the backbone of the order between 104 and 106 Mya. Jump dispersal is important within the order in the last 30 My, but vicariance is the most important cladogenetic driver of disjunctions at deeper levels of the phylogeny. We detect between 69 and 81 shifts in speciation rate throughout the order, the vast majority of which occurred within the last 30 My. We propose that range shifting may be responsible for older shifts in speciation rate, but more recent shifts may be better explained by morphological innovation.

RevDate: 2018-11-13
CmpDate: 2018-03-12

Singh J (2017)

Amar Klar: A giant among scientists (1947-2017).

Journal of biosciences, 42(3):355-357.

RevDate: 2018-08-29
CmpDate: 2018-08-29

James JW (2018)

A century later.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 135(1):1-2.

RevDate: 2018-11-13
CmpDate: 2018-07-20

Ravindran S (2018)

Profile of Scott W. Lowe.

Proceedings of the National Academy of Sciences of the United States of America, 115(4):630-632.

RevDate: 2018-08-16
CmpDate: 2018-08-16

Creager ANH (2017)

A Chemical Reaction to the Historiography of Biology.

Ambix, 64(4):343-359.

This article examines the often-overlooked role of chemical ideas and practices in the history of modern biology. The first section analyses how the conventional histories of the life sciences have, through the twentieth century, come to focus nearly exclusively on evolutionary theory and genetics, and why this storyline is inadequate. The second section elaborates on what the restricted neo-Darwinian history of biology misses, noting a variety of episodes in the history of biology that relied on developments in - or tools from - chemistry, including an example from the author's own work. The diverse ways in which biologists have used chemical approaches often relate to the concrete, infrastructural side of research; a more inclusive history thus also connects to a historiography of materials and objects in science.

RevDate: 2018-10-15
CmpDate: 2018-10-15

Taskent RO, O Gokcumen (2017)

The Multiple Histories of Western Asia: Perspectives from Ancient and Modern Genomes.

Human biology, 89(2):107-117.

Western Asia lies at the heart of the Old World, in the midst of Africa, Asia, and Europe. As such, this region has been populated and repopulated by myriad peoples, starting with the first migrants from Africa. All evidence points to Western Asia for the beginnings of sedentary life, and indeed, first the villages and later the cities of this land remain as archaeological wonders, revealing complex histories of multiple peoples and their interactions. With the wondrous breakthroughs in genomic studies, we now have the power to look at these histories with a truly quantitative lens. Here, we review the recent anthropological genomics literature pertaining to this region, with an outlook for the future challenges and exciting possibilities for the field.

RevDate: 2018-10-15
CmpDate: 2018-10-15

Vukelic A, Cohen JA, Sullivan AP, et al (2017)

Extending Genome-Wide Association Study Results to Test Classic Anthropological Hypotheses: Human Third Molar Agenesis and the "Probable Mutation Effect".

Human biology, 89(2):157-169.

A genome-wide association study (GWAS) identifies regions of the genome that likely affect the variable state of a phenotype of interest. These regions can then be studied with population genetic methods to make inferences about the evolutionary history of the trait. There are increasing opportunities to use GWAS results-even from clinically motivated studies-for tests of classic anthropological hypotheses. One such example, presented here as a case study for this approach, involves tooth development variation related to dental crowding. Specifically, more than 10% of humans fail to develop one or more permanent third molars (M3 agenesis). M3 presence/absence variation within human populations has a significant genetic component (heritability estimate h 2 = 0.47). The evolutionary significance of M3 agenesis has a long history of anthropological speculation. First, the modern frequency of M3 agenesis could reflect a relaxation of selection pressure to retain larger and more teeth following the origins of cooking and other food-softening behaviors (i.e., the genetic drift hypothesis or, classically, the "probable mutation effect"). Alternatively, commensurate with increasing hominin brain size and facial shortening, M3 agenesis may have conferred an adaptive fitness advantage if it reduced the risk of M3 impaction and potential health complications (i.e., the positive selection hypothesis). A recent GWAS identified 70 genetic loci that may play a role in human M3 presence/absence variation. To begin evaluating the contrasting evolutionary scenarios for M3 agenesis, we used the integrated haplotype score (iHS) statistic to test whether those 70 genetic regions are enriched for genomic signatures of recent positive selection. None of our findings are inconsistent with the null hypothesis of genetic drift to explain the high prevalence of human M3 agenesis. This result might suggest that M3 impaction rates for modern humans do not accurately retrodict those of the preagricultural past. Alternatively, the absence of support for the positive selection hypothesis could reflect a lack of power; this analysis should be repeated following the completion of more comprehensive GWAS analyses for human M3 agenesis.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Harper PS (2017)

Activities and initiatives of the renewed European Society of Human Genetics (ESHG) (1992-2017).

European journal of human genetics : EJHG, 25(s2):S2-S5.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Cassiman JJ (2017)

EuroGentest NoE, the ESHG, and genetic services.

European journal of human genetics : EJHG, 25(s2):S47-S49.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Donnai D (2017)

Dysmorphology and the ESHG.

European journal of human genetics : EJHG, 25(s2):S33-S34.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Brunner H (2017)

The annual meeting 1988-2017.

European journal of human genetics : EJHG, 25(s2):S35-S36.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Pignatti PF, FJ Ramos (2017)

Involving the European National Human Genetics Societies.

European journal of human genetics : EJHG, 25(s2):S39-S42.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Pembrey M (2017)

The creation of the International Federation of Human Genetics Societies in 1995-1996.

European journal of human genetics : EJHG, 25(s2):S43-S44.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Cassiman JJ (2017)

The growth of the IFHGS after 2000.

European journal of human genetics : EJHG, 25(s2):S45-S46.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Aymé S, MC Cornel (2017)

The development of the public and professional policy committee.

European journal of human genetics : EJHG, 25(s2):S29-S32.

RevDate: 2018-11-16
CmpDate: 2018-11-16

van Ommen G (2017)

The development and growth of EJHG 1995-2017.

European journal of human genetics : EJHG, 25(s2):S23-S26.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Read AP (2017)

Read's Recall: Shuffling abstracts - and foundations.

European journal of human genetics : EJHG, 25(s2):S27-S28.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Skirton H (2017)

The European Board of Medical Genetics: development of a professional registration system in Europe.

European journal of human genetics : EJHG, 25(s2):S51-S52.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Kristoffersson U, M Macek (2017)

From Mendel to Medical Genetics.

European journal of human genetics : EJHG, 25(s2):S53-S59.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Houge G, J Del Picchia (2017)

The inner life and structure of ESHG.

European journal of human genetics : EJHG, 25(s2):S16-S19.

RevDate: 2018-11-16
CmpDate: 2018-11-16

van Ommen G, M Rice (2017)

The ESHG's second quarter century: consolidation and growth-the period covering 1992-2017.

European journal of human genetics : EJHG, 25(s2):S1.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Pembrey M (2017)

Those wonderful school days in Sestri Levante!.

European journal of human genetics : EJHG, 25(s2):S13-S15.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Kääriäinen H, G Houge (2017)

Secretary Generals on recent ESHG presidents (2003-2015).

European journal of human genetics : EJHG, 25(s2):S20-S22.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Romeo G, Passarge E, A de la Chapelle (2017)

The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school.

European journal of human genetics : EJHG, 25(s2):S6-S12.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Burn J (2017)

Recognition of clinical genetics in Europe.

European journal of human genetics : EJHG, 25(s2):S50.

RevDate: 2018-11-16
CmpDate: 2018-11-16

Wirth B (2017)

Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016.

European journal of human genetics : EJHG, 25(s2):S37-S38.

RevDate: 2018-05-11
CmpDate: 2018-05-11

Collier RJ, DE Bauman (2017)

TRIENNIAL LACTATION SYMPOSIUM/BOLFA:Historical perspectives of lactation biology in the late 20th and early 21st centuries.

Journal of animal science, 95(12):5639-5652.

The latter half of the 20th century and the early portion of the 21st century will be recognized as the "Golden Age" of lactation biology. This period corresponded with the rise of systemic, metabolomic, molecular, and genomic biology. It includes the discovery of the structure of DNA and ends with the sequencing of the complete genomes of humans and all major domestic animal species including the dairy cow. This included the ability to identify polymorphisms in the nucleic acid sequence, which can be tied to specific differences in cellular, tissue, and animal performance. Before this period, classical work using endocrine ablation and replacement studies identified the mammary gland as an endocrine-dependent organ. In the early 1960s, the development of RIA and radioreceptor assays permitted the study of the relationship between endocrine patterns and mammary function. The ability to measure nucleic acid content of tissues opened the door to study of the factors regulating mammary growth. The development of high-speed centrifugation in the 1960s allowed separation of specific cell organelles and their membranes. The development of transmission and scanning electron microscopy permitted the study of the relationship between structure and function in the mammary secretory cell. The availability of radiolabeled metabolites provided the opportunity to investigate the metabolic pathways and their regulation. The development of concepts regarding the coordination of metabolism to support lactation integrated our understanding of nutrient partitioning and homeostasis. The ability to produce recombinant molecules and organisms permitted enhancement of lactation in farm animal species and the production of milk containing proteins of value to human medicine. These discoveries and others contributed to vastly increased dairy farm productivity in the United States and worldwide. This review will include the discussion of the centers of excellence and scientists who labored in these fields to produce the harvest of knowledge we enjoy today.

RevDate: 2018-04-18
CmpDate: 2018-04-18

Jager MJ (2017)

Introducing Johanna M. Seddon, the 2017 Recipient of the Mildred Weisenfeld Award.

Investigative ophthalmology & visual science, 58(14):6510-6512.

RevDate: 2018-10-15
CmpDate: 2018-10-15

Anonymous (2017)

Award for Distinguished Scientific Early Career Contributions to Psychology: Kathryn Paige Harden.

The American psychologist, 72(9):898-900.

The APA Awards for Distinguished Scientific Early Career Contributions to Psychology recognize psychologists who have demonstrated excellence early in their careers and have held a doctoral degree for no more than 9 years. One of the 2017 award winners is Kathryn Paige Harden, for demonstrating "how to integrate genetic knowledge with the classical clinical and developmental insights into human behavior." Harden's award citation, biography, and a selected bibliography are presented here. (PsycINFO Database Record

RevDate: 2018-10-15
CmpDate: 2018-10-15

Anonymous (2017)

Distinguished Scientific Contributions: Robert Plomin.

The American psychologist, 72(9):885-887.

The American Psychological Association Awards for Distinguished Scientific Contributions are presented to persons who, in the opinion of the Committee on Scientific Awards, have made distinguished theoretical or empirical contributions to basic research in psychology. Robert Plomin is a recipient of the 2017 award "for leading the transformation of behavioral genetics from an isolated and sometimes vilified scientific outpost to a fully integrated mainstay of scientific psychology." Plomin's award citation, biography, and a selected bibliography are presented here. (PsycINFO Database Record

RevDate: 2018-08-24
CmpDate: 2018-08-24

Carter AM (2018)

Classics revisited: Miguel Fernández on germ layer inversion and specific polyembryony in armadillos.

Placenta, 61:55-60.

BACKGROUND: Miguel Fernández was an Argentinian zoologist who published the first account of obligate polyembryony in armadillos. His contribution is here discussed in relation to his contemporaries, Newman and Patterson, and more recent work.

FINDINGS: Fernandez worked on the mulita (Dasypus hybridus). He was able to get early stages before twinning occurred and show it was preceded by inversion of the germ layers. By the primitive streak stage there were separate embryonic shields and partition of the amnion. There was, however, a single exocoelom and all embryos were enclosed in a common set of membranes comprising chorion towards the attachment site in the uterine fundus and inverted yolk sac on the opposite face. He showed that monozygotic twinning did not occur in another armadillo, the peludo (Chaetophractus villosus).

CONCLUSIONS: Fernández's work represented a major breakthrough in understanding how twinning occurred in armadillos. His work and that of others is of intrinsic interest to zoologists and has a direct bearing on the origin of monozygotic twins and birth defects in humans.

RevDate: 2018-03-23
CmpDate: 2018-01-15

Chenette EJ (2017)

Announcing the winners of our 50th Anniversary Science Communication Competition.

The FEBS journal, 284(24):4172-4173.

The FEBS Journal is pleased to announce the three winners of its 50th Anniversary Science Communication Competition. Read on to see their prize-winning entries!

RevDate: 2018-10-01
CmpDate: 2018-09-28

Anonymous (2018)

2017 American Society of Naturalists Awards.

The American naturalist, 191(1):vi-viii.

RevDate: 2018-05-09
CmpDate: 2018-05-09

Cornish VW (2017)

Ronald Breslow (1931-2017).

Nature, 552(7684):176.

RevDate: 2018-07-30
CmpDate: 2018-07-30

Rao V (2017)

J. B. S. Haldane and Journal of Genetics.

Journal of genetics, 96(5):855-864.

This is a brief sketch of the history of Journal of Genetics from its beginning in 1909 to the taking over of its publication by the Indian Academy of Sciences in 1985. The account is centred on J. B. S. Haldane's involvement with it over many years, especially as Editor, initially in the UK and later in India.

RevDate: 2018-11-13
CmpDate: 2018-07-30

Mcouat G (2017)

J. B. S. Haldane's passage to India: reconfiguring science.

Journal of genetics, 96(5):845-852.

In 1957, John Burdon Sanderson (JBS) Haldane (1892-1964), the world's leading population geneticist, committed political radical and one of the three 'founders' of neo-Darwinian 'Modern Synthesis' of twentieth century biology (Sarkar 1995; Haldane 1932; Cain 2009; Smocovitis 1996), ostentatiously renounced both his British citizenship and his prestigious chair at University College London. In a decisively and very public anti-imperial gesture, ostensibly played out as a reaction to the Suez crisis (although his discontent was simmering for quite some time), Haldane, and his partner, geneticistHelen Spurway (1917-1977), turned their backs on Britain and set off to India to offer their considerable scientific prestige, their inexhaustible organisational abilities, along with their leading Journal of Genetics, behind the efforts to build a 'modern', democratic India emerging out of the ashes of colonial rule. Haldane's support of independent India was a major triumph for the new state, itself in the midst of negotiating a fine balance between rapid modernization through science and technology and an postcolonial respect for traditional 'non-Western' values. Although his time in India was short, Haldane's few years in India were marked by a frenzied engagement with the new India, its science, its government and its culture (Rao 2013).

RevDate: 2018-11-13
CmpDate: 2018-07-30

Damodaran V (2017)

Janaki Ammal, C. D. Darlington and J. B. S. Haldane: scientific encounters at the end of empire.

Journal of genetics, 96(5):827-836.

Right from the beginning, genetics has been an international venture, with international networks involving the collaboration of scientists across continents. Janaki Ammal's career illustrates this. This paper traces her scientific path by situating it in the context of her relationships with J. B. S. Haldane and C. D. Darlington.


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
21454 NE 143rd Street
Woodinville, WA 98077

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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 )