@article {pmid35245470, year = {2022}, author = {}, title = {2021 ASHG awards and addresses.}, journal = {American journal of human genetics}, volume = {109}, number = {3}, pages = {379-380}, doi = {10.1016/j.ajhg.2022.02.004}, pmid = {35245470}, issn = {1537-6605}, mesh = {*Awards and Prizes ; *Genetics, Medical/history ; Humans ; United States ; }, abstract = {Each year at the annual meeting of the American Society of Human Genetics (ASHG), addresses are given in honor of the Society and a number of award winners. A summary of each of these is provided below. On the following pages, we have printed the Presidential Address as well as the addresses for the William Allan Award, the Curt Stern Award, and the McKusick Leadership Award. Recordings of these addresses, as well as those of many other presentations, can be found at http://www.ashg.org.}, }
@article {pmid34455258, year = {2021}, author = {Shan, Y}, title = {Beyond Mendelism and Biometry.}, journal = {Studies in history and philosophy of science}, volume = {89}, number = {}, pages = {155-163}, doi = {10.1016/j.shpsa.2021.08.014}, pmid = {34455258}, issn = {0039-3681}, mesh = {*Biometry/history ; Fruit ; *Genetics/history ; History, 19th Century ; History, 20th Century ; Reading Frames ; }, abstract = {Historiographical analyses of the development of genetics in the first decade of the 20th century have been to a great extent framed in the context of the Mendelian-Biometrician controversy. Much has been discussed on the nature, origin, development, and legacy of the controversy. However, such a framework is becoming less useful and fruitful. This paper challenges the traditional historiography framed by the Mendelian-Biometrician distinction. It argues that the Mendelian-Biometrician distinction fails to reflect the theoretical and methodological diversity in the controversy. It also argues that the Mendelian-Biometrician distinction is not helpful to make a full understanding of the development of genetics in the first decade of the twentieth century.}, }
@article {pmid35241827, year = {2022}, author = {Mutesa, L}, title = {A genetic research story of giving back and returning to the country of a thousand hills.}, journal = {Nature genetics}, volume = {54}, number = {3}, pages = {216-218}, pmid = {35241827}, issn = {1546-1718}, mesh = {COVID-19/prevention & control/virology ; COVID-19 Testing/*history/methods ; Genetic Research/*history ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Rwanda ; SARS-CoV-2/genetics/physiology ; }, }
@article {pmid34849892, year = {2021}, author = {Isabella, AJ and Leyva-Díaz, E and Kaneko, T and Gratz, SJ and Moens, CB and Hobert, O and O'Connor-Giles, K and Thakur, R and Sun, H}, title = {The field of neurogenetics: where it stands and where it is going.}, journal = {Genetics}, volume = {218}, number = {4}, pages = {}, doi = {10.1093/genetics/iyab085}, pmid = {34849892}, issn = {1943-2631}, mesh = {Animals ; Genetic Techniques ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history/methods ; }, }
@article {pmid33465491, year = {2021}, author = {Ishihama, Y and Chen, YJ and Cho, JY and Ming Chung, MC and Cordwell, SJ and Low, TY and Wai Poon, TC and Kwon, HJ}, title = {Asia-Oceania HUPO: Past, Present, and Future.}, journal = {Molecular & cellular proteomics : MCP}, volume = {20}, number = {}, pages = {100048}, doi = {10.1016/j.mcpro.2021.100048}, pmid = {33465491}, issn = {1535-9484}, mesh = {Asia ; History, 21st Century ; Internationality ; Oceania ; Proteomics/*history ; Societies, Scientific/*history ; }, abstract = {The Asia-Oceania Human Proteome Organization (AOHUPO; www.aohupo.org) was officially founded on June 7, 2001, by Richard J. Simpson (Australia), Akira Tsugita (Japan), and Young-Ki Paik (Korea) and launched on October 1-4, 2001, at the second scientific meeting of the International Proteomics Conference held in Canberra, Australia. Inaugural council members of the AOHUPO elected were Richard J. Simpson (Australia, president), Qi-Chang Xia (China), Kazuyuki Nakamura (Japan), Akira Tsugita (Japan, VIce President), Young-Ki Paik (Korea, secretary general), Mike Hubbard (New Zealand), Max C. M. Chung (Singapore), Shui-Tien Chen (Taiwan), and John Bennett (Philippines). The first AOHUPO conference was held on March 26-27, 2002, at the Seoul National University, Seoul, Korea, conjointly with the second Annual Meeting of KHUPO. Since then, biennial AOHUPO conferences have been held in Taipei (2004), Singapore (2006), Cairns (2008), Hyderabad (2010), Beijing (2012), Bangkok (2014), Sun Moon Lake (2016), and Osaka (2018). The 10th AOHUPO conference is scheduled to be held in Busan on June 30 to July 2, 2021, to celebrate our 20th anniversary.}, }
@article {pmid33542497, year = {2021}, author = {Passarge, E}, title = {Origins of human genetics. A personal perspective.}, journal = {European journal of human genetics : EJHG}, volume = {29}, number = {7}, pages = {1038-1044}, pmid = {33542497}, issn = {1476-5438}, mesh = {Alleles ; Biomedical Research/history ; Genetic Association Studies/history/methods/trends ; Genetic Diseases, Inborn/*diagnosis/*genetics/therapy ; Genetic Predisposition to Disease ; *Genetics, Medical/history/trends ; History, 20th Century ; Humans ; }, abstract = {Genetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses. This personal account suggests that the origins of human genetics can best be traced to the years 1949 to 1959. Several genetic scientific advances in genetics in 1949 yielded results directly relating to humans for the first time, except for a few earlier observations. In 1949 the first textbook of human genetics was published, the American Journal of Human Genetics was founded, and in the previous year the American Society of Human Genetics. In 1940 in Britain a textbook entitled Introduction to Medical Genetics served as a foundation for introducing genetic aspects into medicine. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells in 1959 and subsequent years revealed that many human diseases, including cancer, have genetic causes. It became possible to arrive at a precise cause-related genetic diagnosis. As a result the risk of occurrence or re-occurrence of a disease within a family could be assessed correctly. Genetic counseling as a new concept became a basis for improved patient care. Taken together the advances in medically orientated genetic research and patient care since 1949 have resulted in human genetics being both, a basic medical and a basic biological science. Prior to 1949 genetics was not generally viewed in a medical context. Although monogenic human diseases were recognized in 1902, their occurrence and distribution were considered mainly at the population level.}, }
@article {pmid33972679, year = {2021}, author = {Minari, J and Yokono, M and Takashima, K and Kokado, M and Ida, R and Hishiyama, Y}, title = {Looking back: three key lessons from 20 years of shaping Japanese genome research regulations.}, journal = {Journal of human genetics}, volume = {66}, number = {11}, pages = {1039-1041}, pmid = {33972679}, issn = {1435-232X}, support = {19K21566//MEXT | Japan Society for the Promotion of Science (JSPS)/ ; JPMJRX19B5//MEXT | JST | Research Institute of Science and Technology for Society (RISTEX)/ ; }, mesh = {Biomedical Research/ethics/history/*legislation & jurisprudence/standards ; Computer Security/ethics/history/legislation & jurisprudence ; Ethicists/history/legislation & jurisprudence ; Genetic Privacy/ethics/legislation & jurisprudence ; Genome, Human/*physiology ; *Government Regulation/history ; Healthy Volunteers ; History, 21st Century ; Human Genetics/ethics/history/*legislation & jurisprudence/standards ; Humans ; Japan ; *Practice Guidelines as Topic/standards ; }, }
@article {pmid34791407, year = {2022}, author = {Freeberg, MA and Fromont, LA and D'Altri, T and Romero, AF and Ciges, JI and Jene, A and Kerry, G and Moldes, M and Ariosa, R and Bahena, S and Barrowdale, D and Barbero, MC and Fernandez-Orth, D and Garcia-Linares, C and Garcia-Rios, E and Haziza, F and Juhasz, B and Llobet, OM and Milla, G and Mohan, A and Rueda, M and Sankar, A and Shaju, D and Shimpi, A and Singh, B and Thomas, C and de la Torre, S and Uyan, U and Vasallo, C and Flicek, P and Guigo, R and Navarro, A and Parkinson, H and Keane, T and Rambla, J}, title = {The European Genome-phenome Archive in 2021.}, journal = {Nucleic acids research}, volume = {50}, number = {D1}, pages = {D980-D987}, pmid = {34791407}, issn = {1362-4962}, support = {/WT_/Wellcome Trust/United Kingdom ; 201535/Z/16/Z/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Confidentiality/*legislation & jurisprudence ; Datasets as Topic ; *Genome, Human ; Genotype ; History, 20th Century ; History, 21st Century ; Humans ; Information Dissemination/ethics/*methods ; Metadata/ethics/statistics & numerical data ; Phenomics/history/*organization & administration ; Phenotype ; Translational Research, Biomedical/*methods ; }, abstract = {The European Genome-phenome Archive (EGA - https://ega-archive.org/) is a resource for long term secure archiving of all types of potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical research projects. Its mission is to foster hosted data reuse, enable reproducibility, and accelerate biomedical and translational research in line with the FAIR principles. Launched in 2008, the EGA has grown quickly, currently archiving over 4,500 studies from nearly one thousand institutions. The EGA operates a distributed data access model in which requests are made to the data controller, not to the EGA, therefore, the submitter keeps control on who has access to the data and under which conditions. Given the size and value of data hosted, the EGA is constantly improving its value chain, that is, how the EGA can contribute to enhancing the value of human health data by facilitating its submission, discovery, access, and distribution, as well as leading the design and implementation of standards and methods necessary to deliver the value chain. The EGA has become a key GA4GH Driver Project, leading multiple development efforts and implementing new standards and tools, and has been appointed as an ELIXIR Core Data Resource.}, }
@article {pmid34581472, year = {2021}, author = {Lee, C and Antonarakis, SE and Hamosh, A and Burn, J}, title = {Three decades of the Human Genome Organization.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3314-3321}, doi = {10.1002/ajmg.a.62512}, pmid = {34581472}, issn = {1552-4833}, support = {G0100496/MRC_/Medical Research Council/United Kingdom ; }, mesh = {Databases, Genetic/*history ; Genetic Variation/genetics ; Genome, Human/*genetics ; Genomics/history ; History, 20th Century ; Human Genetics/*history ; Human Genome Project/*history ; Humans ; }, abstract = {The Human Genome Organization (HUGO) was initially established in 1988 to help integrate international scientific genomic activity and to accelerate the diffusion of knowledge from the efforts of the human genome project. Its founding President was Victor McKusick. During the late 1980s and 1990s, HUGO organized lively gene mapping meetings to accurately place genes on the genome as chromosomes were being sequenced. With the completion of the Human Genome Project, HUGO went through some transitions and self-reflection. In 2020, HUGO (which hosts a large annual scientific meeting and comprises the renowned HUGO Gene Nomenclature Committee [HGNC], responsible for naming genes, and an outstanding Ethics Committee) was merged with the Human Genome Variation Society (HGVS; which defines the correct nomenclature for variation description) and the Human Variome Project (HVP; championed by the late Richard Cotton) into a single organization that is committed to assembling human genomic variation from all over the world. This consolidated effort, under a new Executive Board and seven focused committees, will facilitate efficient and effective communication and action to bring the benefits of increasing knowledge of genome diversity and biology to people all over the world.}, }
@article {pmid34532947, year = {2021}, author = {Puffenberger, EG}, title = {Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3322-3333}, doi = {10.1002/ajmg.a.62489}, pmid = {34532947}, issn = {1552-4833}, mesh = {Amish/genetics ; Founder Effect ; Genetic Diseases, Inborn/genetics/*history ; *Genetic Predisposition to Disease ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Pennsylvania/epidemiology ; Translational Science, Biomedical/trends ; }, abstract = {Founder populations have long contributed to our knowledge of rare disease genes and phenotypes. From the pioneering work of Dr. Victor McKusick to today, research in these groups has shed light on rare recessive phenotypes, expanded the clinical spectrum of disease, and facilitated disease gene identification. Current clinical and research studies in these special groups augment the wealth of knowledge already gained, provide new insights into emerging problems such as variant interpretation and reduced penetrance, and contribute to the development of novel therapies for rare genetic diseases. Clinical developments over the past 30 years have altered the fundamental relationship with the Lancaster Plain communities: research has become more collaborative, and the knowledge imparted by these studies is now being harnessed to provide cutting-edge translational medicine to the very community of vulnerable individuals who need it most.}, }
@article {pmid34498367, year = {2021}, author = {Romeo, G and Bobrow, M and Ferguson-Smith, M and Ballabio, A}, title = {Victor McKusick and his role in the founding of the European School of Genetic Medicine.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3253-3258}, doi = {10.1002/ajmg.a.62481}, pmid = {34498367}, issn = {1552-4833}, mesh = {Europe ; Genetics, Medical/education/*history ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; }, abstract = {Between 1988 and 2007, during the courses of the European School of Genetic Medicine, many of us had the opportunity to appreciate the tolerant and open-minded personality of Victor McKusick. He was gifted with a unique foresight for the innovations introduced into medicine through the development of the Human Genome Project. The aim of our separate contributions in this article is to document how his insights had an important impact on the European medical training system.}, }
@article {pmid34463023, year = {2021}, author = {Francomano, CA}, title = {Victor Almon McKusick: In the footsteps of Mendel and Osler.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3193-3201}, doi = {10.1002/ajmg.a.62451}, pmid = {34463023}, issn = {1552-4833}, support = {U41 HG006627/HG/NHGRI NIH HHS/United States ; }, mesh = {Awards and Prizes ; Chromosome Mapping ; Databases, Genetic/*history ; Genetics, Medical/*history ; Genome, Human/*genetics ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; United States ; }, abstract = {Victor Almon McKusick (VAM) is widely recognized as the father of the field of medical genetics. He established one of the first medical genetics clinics in the United States at Johns Hopkins in 1957 and developed a robust training program with the tripartite mission of education, research, and clinical care. Thousands of clinicians and scientists were educated over the years through the Short Course in Medical and Molecular Genetics, which VAM founded with Dr. Thomas Roderick in 1960. His Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders, serves as the authoritative reference for geneticists around the globe. Throughout his career he was an advocate for mapping the human genome. He collaborated with Dr. Frank Ruddle in founding the International Human Gene Mapping Workshops in the early 70's and was an avid proponent of the Human Genome Project. He was the founding President of the Human Genome Organization and a founding editor of the journal Genomics. His prodigious contributions to the field of medical genetics were recognized by multiple honors, culminating with the Japan Prize in 2008.}, }
@article {pmid34402580, year = {2021}, author = {Wray, C and Cox, G and Valle, D}, title = {Victor McKusick and his short course.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3242-3252}, doi = {10.1002/ajmg.a.62435}, pmid = {34402580}, issn = {1552-4833}, support = {5R25HDO079344-08//National Institute of Child Health and Development/ ; }, mesh = {Genetics, Medical/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {The Short Course in Human and Mammalian Genetics and Genomics (aka the "Short Course" or the "Bar Harbor course") is one of Victor McKusick's landmark contributions to medical genetics. Conceived in 1959 as a way to increase the contribution of genetic advances to medicine, it has directly affected more than 7000 students and 600 participating faculty from around the world. Now, more than 10 years after his death, it continues to be a vibrant disseminator of genetics, and genomics knowledge for medicine, a catalytic agent for ongoing research and a source of collegiality in our field. What an extraordinary gift!}, }
@article {pmid34338430, year = {2021}, author = {Rasmussen, SA and Hamosh, A}, title = {Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3189-3192}, pmid = {34338430}, issn = {1552-4833}, support = {U41 HG006627/HG/NHGRI NIH HHS/United States ; }, mesh = {Databases, Genetic/history ; Genetic Diseases, Inborn/epidemiology/*genetics/history/therapy ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid34214258, year = {2021}, author = {Scott, AF and Amberger, JS}, title = {The genes of OMIM: A legacy of Victor McKusick.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3276-3283}, doi = {10.1002/ajmg.a.62415}, pmid = {34214258}, issn = {1552-4833}, mesh = {Databases, Genetic/*history ; Genetic Diseases, Inborn/*genetics/history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid34169650, year = {2021}, author = {Hamosh, A and Amberger, JS and Bocchini, C and Scott, AF and Rasmussen, SA}, title = {Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3259-3265}, pmid = {34169650}, issn = {1552-4833}, support = {U41 HG006627/HG/NHGRI NIH HHS/United States ; NIH/NHGRI U41HG006627/HG/NHGRI NIH HHS/United States ; }, mesh = {Chromosome Mapping ; Databases, Genetic/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {Victor McKusick's many contributions to medicine are legendary, but his magnum opus is Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their associated genes. The catalog, originally published in 1966 in book form, became available on the internet as Online Mendelian Inheritance in Man (OMIM®) in 1987. The first of 12 editions of MIM included 1486 entries; this number has increased to over 25,000 entries in OMIM as of April 2021, which demonstrates the growth of knowledge about Mendelian phenotypes and their genes through the years. OMIM now has over 20,000 unique users a day, including users from every country in the world. Many of the early decisions made by McKusick, such as to maintain MIM data in a computer-readable format, to separate phenotype entries from those for genes, and to give phenotypes and genes MIM numbers, have proved essential to the long-term utility and flexibility of his catalog. Based on his extensive knowledge of genetics and vision of its future in the field of medicine, he developed a framework for the capture and summary of information from the published literature on phenotypes and their associated genes; this catalog continues to serve as an indispensable resource to the genetics community.}, }
@article {pmid34165876, year = {2021}, author = {Passarge, E}, title = {In Memoriam: "Holstein cows in Holstein." Victor A. McKusick: 40 years of remembrance from Europe.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3208-3211}, doi = {10.1002/ajmg.a.62390}, pmid = {34165876}, issn = {1552-4833}, mesh = {Databases, Genetic/*history ; Europe ; Genetic Diseases, Inborn/epidemiology/*genetics ; Genetics, Medical/*history ; Germany ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid34159717, year = {2021}, author = {Rasmussen, SA and Pomputius, A and Amberger, JS and Hamosh, A}, title = {Viewing Victor McKusick's legacy through the lens of his bibliography.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3212-3223}, pmid = {34159717}, issn = {1552-4833}, support = {U41 HG006627/HG/NHGRI NIH HHS/United States ; }, mesh = {Databases, Genetic/*history ; Genetics, Medical/*history ; Genome, Human/*genetics ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; United States ; }, abstract = {Victor McKusick's contributions to the field of medical genetics are legendary and include his contributions as a mentor, as creator of Mendelian Inheritance in Man (now Online Mendelian Inheritance in Man [OMIM®]), and as a leader in the field of medical genetics. McKusick's full bibliography includes 772 publications. Here we review the 453 papers authored by McKusick and indexed in PubMed, from his earliest paper published in the New England Journal of Medicine in 1949 to his last paper published in American Journal of Medical Genetics Part A in 2008. This review of his bibliography chronicles McKusick's evolution from an internist and cardiologist with an interest in genetics to an esteemed leader in the growing field of medical genetics. Review of his bibliography also provides a historical perspective of the development of the discipline of medical genetics. This field came into its own during his lifetime, transitioning from the study of interesting cases and families used to codify basic medical genetics principles to an accredited medical specialty that is expected to transform healthcare. Along the way, he helped to unite the fields of medical and human genetics to focus on mapping the human genome, culminating in completion of the Human Genome Project. This review confirms the critical role played by Victor McKusick as the founding father of medical genetics.}, }
@article {pmid34159713, year = {2021}, author = {Antonarakis, SE}, title = {History of the methodology of disease gene identification.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3266-3275}, pmid = {34159713}, issn = {1552-4833}, mesh = {Databases, Genetic/*history ; Genetic Diseases, Inborn/epidemiology/*genetics/history ; Genetic Linkage/genetics ; *Genetic Predisposition to Disease ; Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype ; }, abstract = {The past 45 years have witnessed a triumph in the discovery of genes and genetic variation that cause Mendelian disorders due to high impact variants. Important discoveries and organized projects have provided the necessary tools and infrastructure for the identification of gene defects leading to thousands of monogenic phenotypes. This endeavor can be divided in three phases in which different laboratory strategies were employed for the discovery of disease-related genes: (i) the biochemical phase, (ii) the genetic linkage followed by positional cloning phase, and (iii) the sequence identification phase. However, much more work is needed to identify all the high impact genomic variation that substantially contributes to the phenotypic variation.}, }
@article {pmid34061451, year = {2021}, author = {Corson, VL and Bernhardt, BA}, title = {The evolution of genetic counseling at Johns Hopkins Hospital and beyond.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3230-3235}, doi = {10.1002/ajmg.a.62374}, pmid = {34061451}, issn = {1552-4833}, mesh = {Counselors/*history ; Genetic Counseling/*history ; Genetic Diseases, Inborn/*diagnosis/genetics/history ; History, 20th Century ; History, 21st Century ; Hospitals ; Humans ; Universities ; }, abstract = {In celebration of the 100th birthday of Dr. Victor A. McKusick, we look back at the history of genetic counseling at Johns Hopkins Hospital and at some milestones for the profession. With the first students graduating from the Human Genetics program at Sarah Lawrence College in 1971, the genetic counseling profession is celebrating its 50th anniversary this year. The profession has seen growth in numbers and scope of practice, the evolution of a national society, the advent of certification and accreditation, the proliferation of graduate programs, the pursuit of state licensure, and collaboration with fellow genetics professionals. Many of the early jobs were at academic centers, such as Johns Hopkins Hospital, while today counselors are employed in a multitude of settings and engaged in a variety of roles.}, }
@article {pmid34056828, year = {2021}, author = {Ferguson-Smith, MA}, title = {Human cytogenetics at Johns Hopkins Hospital, 1959-1962.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3236-3241}, doi = {10.1002/ajmg.a.62366}, pmid = {34056828}, issn = {1552-4833}, mesh = {Chromosome Aberrations ; Cytogenetics/*history ; History, 20th Century ; Hospitals ; Humans ; Klinefelter Syndrome/diagnosis/*genetics/history ; Sex Chromosome Aberrations ; Sex Chromosome Disorders/diagnosis/*genetics/history ; Turner Syndrome/diagnosis/*genetics/history ; }, abstract = {An account is given of the introduction of human cytogenetics to the Division of Medical Genetics at Johns Hopkins Hospital, and the first 3 years' work of the chromosome diagnostic laboratory that was established at the time. Research on human sex chromosome disorders, including novel discoveries in the Turner and Klinefelter syndromes, is described together with original observations on chromosome behavior at mitosis. It is written in celebration of the centenary of the birth of Victor McKusick, the acknowledged father of Medical Genetics, who established the Division and had the foresight to ensure that it included the investigation of human chromosomes.}, }
@article {pmid34015177, year = {2021}, author = {Hall, JG}, title = {The contributions of careful clinical observations: A legacy.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3202-3207}, doi = {10.1002/ajmg.a.62342}, pmid = {34015177}, issn = {1552-4833}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Rare Diseases/*genetics/history ; }, abstract = {Clinical Medicine is an Art which is learned, together with hard work, as an apprentice-observing how a master works, and improving with experience and exposure. Clinicians are performing multiple things at the same time-trying to make a diagnosis, providing best therapies and preventative strategies, and looking for the underlying mechanism(s). Families want to know what to expect over time-the natural history of their disorder. Rare disease networks and parent support groups are helping in this effort. Information technologies and international collaborative efforts are changing the way clinical genetics is provided.}, }
@article {pmid33955173, year = {2021}, author = {Migeon, BR and Kazazian, HH}, title = {Reflections on the history of genetic medicine at Johns Hopkins University.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3224-3229}, doi = {10.1002/ajmg.a.62246}, pmid = {33955173}, issn = {1552-4833}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Universities ; }, abstract = {Two members of the faculty-who witnessed the birth of Genetic Medicine and remained to see it evolve-present their reflections about the history of genetic medicine at the Johns Hopkins Medical Institutions. They tell how the genetic units in Pediatrics and Medicine that were initiated by Barton Childs and Victor McKusick, respectively, became the McKusick Nathans Department of Genetic Medicine in 2020.}, }
@article {pmid35022602, year = {2022}, author = {}, title = {A very Mendelian year.}, journal = {Nature genetics}, volume = {54}, number = {1}, pages = {1}, doi = {10.1038/s41588-021-01002-x}, pmid = {35022602}, issn = {1546-1718}, mesh = {COVID-19/genetics ; Deep Learning ; Genetic Research ; Genetics/*history/trends ; History, 21st Century ; Humans ; Plants/genetics ; }, }
@article {pmid34313375, year = {2021}, author = {Rasmussen, SA and Hamosh, A}, title = {Memories of Victor A. McKusick.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3377-3383}, doi = {10.1002/ajmg.a.62431}, pmid = {34313375}, issn = {1552-4833}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid34155808, year = {2021}, author = {Juengst, ET}, title = {Anticipating the ethical, legal, and social implications of human genome research: An ongoing experiment.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {11}, pages = {3369-3376}, pmid = {34155808}, issn = {1552-4833}, support = {R01 HG010661/HG/NHGRI NIH HHS/United States ; }, mesh = {Genetic Research/*history ; Genome, Human/*genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; }, abstract = {Dr. Victor McKusick was a founding member of the joint NIH-DOE working group that designed the federal effort to address the ethical, legal, and social implications of the US Human Genome Project in 1989. A key feature of this effort was its commitment to anticipating genomics-driven questions before they became urgent practical dilemmas, by complementing the scientific effort to map and sequence the human genome with projects by a wide range of social scientists, humanities scholars, legal experts, and public educators designed to equip society with the foresight required to optimize the public welfare benefits of new genomic information. This article describes the origins of that experiment and the model of anticipatory science policy that it produced, as one piece of Dr. McKusick's extraordinary intellectual legacy.}, }
@article {pmid34739057, year = {2021}, author = {Ptushenko, VV}, title = {The pushback against state interference in science: how Lysenkoism tried to suppress Genetics and how it was eventually defeated.}, journal = {Genetics}, volume = {219}, number = {4}, pages = {}, pmid = {34739057}, issn = {1943-2631}, mesh = {Communism/*history ; Genetics/*history ; History, 20th Century ; Humans ; Politics ; *Pseudoscience ; *Public Policy/history ; USSR ; }, abstract = {Genetics in the Soviet Union (USSR) achieved state-of-the-art results and had reached a peak of development by the mid-1930s due to the efforts of the scientific schools of several major figures, including Sergei Navashin, Nikolai Koltsov, Grigorii Levitsky, Yuri Filipchenko, Nikolai Vavilov, and Solomon Levit. Unfortunately, the Soviet government distrusted intellectually independent science and this led to state support for a fraudulent pseudoscientific concept widely known as Lysenkoism, which hugely damaged biology as a whole. Decades of dominance of the Lysenkoism had ruinous effects and the revival of biology in the USSR in the late 1950s-early 1960s was very difficult. In fact, this was realized to be a problem for Soviet science as a whole, and many mathematicians, physicists, chemists, and other scientists made efforts to rehabilitate genetics and to transfer biology to the "jurisdiction" of science from that of politics. The key events in the history of these attempts to pushback against state interference in science, and to promote the development of genetics and molecular biology, are described in this paper. These efforts included supportive letters to the authorities (e.g., the famous "Letter of three hundred"), (re)publishing articles and giving lectures on "forbidden" science, and organizing laboratories and departments for research in genetics and molecular biology under the cover of nuclear physics or of other projects respected by the government and Communist party leaders. The result was that major figures in the hard sciences played a major part in the revival of genetics and biology in the USSR.}, }
@article {pmid35063094, year = {2022}, author = {Bagheri, N and Carpenter, AE and Lundberg, E and Plant, AL and Horwitz, R}, title = {The new era of quantitative cell imaging-challenges and opportunities.}, journal = {Molecular cell}, volume = {82}, number = {2}, pages = {241-247}, doi = {10.1016/j.molcel.2021.12.024}, pmid = {35063094}, issn = {1097-4164}, support = {R35 GM122547/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Diffusion of Innovation ; Genomics/history/*trends ; High-Throughput Screening Assays/trends ; History, 20th Century ; History, 21st Century ; Humans ; Microscopy/history/*trends ; Optical Imaging/history/*trends ; Reproducibility of Results ; Research Design/trends ; Single-Cell Analysis/history/*trends ; }, abstract = {Quantitative optical microscopy-an emerging, transformative approach to single-cell biology-has seen dramatic methodological advancements over the past few years. However, its impact has been hampered by challenges in the areas of data generation, management, and analysis. Here we outline these technical and cultural challenges and provide our perspective on the trajectory of this field, ushering in a new era of quantitative, data-driven microscopy. We also contrast it to the three decades of enormous advances in the field of genomics that have significantly enhanced the reproducibility and wider adoption of a plethora of genomic approaches.}, }
@article {pmid34960609, year = {2021}, author = {Škorić, D and Černi, S and Ćurković-Perica, M and Ježić, M and Krajačić, M and Šeruga Musić, M}, title = {Legacy of Plant Virology in Croatia-From Virus Identification to Molecular Epidemiology, Evolution, Genomics and Beyond.}, journal = {Viruses}, volume = {13}, number = {12}, pages = {}, pmid = {34960609}, issn = {1999-4915}, mesh = {Croatia ; History, 20th Century ; History, 21st Century ; Molecular Epidemiology/*history ; Plant Diseases/*virology ; Plant Pathology/*history ; Plants/*virology ; }, abstract = {This paper showcases the development of plant virology in Croatia at the University of Zagreb, Faculty of Science, from its beginning in the 1950s until today, more than 70 years later. The main achievements of the previous and current group members are highlighted according to various research topics and fields. Expectedly, some of those accomplishments remained within the field of plant virology, but others make part of a much-extended research spectrum exploring subviral pathogens, prokaryotic plant pathogens, fungi and their viruses, as well as their interactions within ecosystems. Thus, the legacy of plant virology in Croatia continues to contribute to the state of the art of microbiology far beyond virology. Research problems pertinent for directing the future research endeavors are also proposed in this review.}, }
@article {pmid35088830, year = {2022}, author = {}, title = {The people behind the papers - Chunyan Fang and Xiaoling Tong.}, journal = {Development (Cambridge, England)}, volume = {149}, number = {2}, pages = {}, doi = {10.1242/dev.200484}, pmid = {35088830}, issn = {1477-9129}, mesh = {China ; Developmental Biology/*history ; Genetics/*history ; History, 21st Century ; }, abstract = {Hox genes play a key role in determining body plan, but previous research indicated that forewing development occurs independently of Antennapedia, the Hox gene expressed in the thoracic region. Now, a new paper in Development describes an essential role for Antennapedia in wing development of silkworm, Drosophila and Tribolium. We caught up with first author, Chunyan Fang, and corresponding author, Xiaoling Tong, a group leader at the State Key Laboratory of Silkworm Genome Biology at Southwest University in China, to find out more about their research.}, }
@article {pmid34990452, year = {2022}, author = {Stoeger, T and Nunes Amaral, LA}, title = {The characteristics of early-stage research into human genes are substantially different from subsequent research.}, journal = {PLoS biology}, volume = {20}, number = {1}, pages = {e3001520}, pmid = {34990452}, issn = {1545-7885}, support = {K99 AG068544/AG/NIA NIH HHS/United States ; U19 AI135964/AI/NIAID NIH HHS/United States ; }, mesh = {Genome, Human ; History, 20th Century ; History, 21st Century ; Human Genetics/economics/*history/*methods ; Humans ; }, abstract = {Throughout the last 2 decades, several scholars observed that present day research into human genes rarely turns toward genes that had not already been extensively investigated in the past. Guided by hypotheses derived from studies of science and innovation, we present here a literature-wide data-driven meta-analysis to identify the specific scientific and organizational contexts that coincided with early-stage research into human genes throughout the past half century. We demonstrate that early-stage research into human genes differs in team size, citation impact, funding mechanisms, and publication outlet, but that generalized insights derived from studies of science and innovation only partially apply to early-stage research into human genes. Further, we demonstrate that, presently, genome biology accounts for most of the initial early-stage research, while subsequent early-stage research can engage other life sciences fields. We therefore anticipate that the specificity of our findings will enable scientists and policymakers to better promote early-stage research into human genes and increase overall innovation within the life sciences.}, }
@article {pmid34907398, year = {2021}, author = {Aviv, T and Sicheri, F and Bernstein, A and Weinberg, RA}, title = {Remembering a pioneer in biotechnology.}, journal = {Nature}, volume = {600}, number = {7889}, pages = {386}, doi = {10.1038/d41586-021-03696-9}, pmid = {34907398}, issn = {1476-4687}, mesh = {Agriculture/history ; Animals ; Biotechnology/*history ; Cattle ; Cloning, Molecular ; DNA, Complementary/genetics ; Growth Hormone/history/isolation & purification ; History, 20th Century ; Humans ; Israel ; Molecular Biology/*history ; Poly A/chemistry/isolation & purification ; RNA, Messenger/chemistry/isolation & purification ; }, }
@article {pmid34622796, year = {2021}, author = {Lakhotia, SC}, title = {Dosage compensation in Drosophila in the 1960s: a personal historical perspective.}, journal = {Journal of genetics}, volume = {100}, number = {}, pages = {}, pmid = {34622796}, issn = {0973-7731}, mesh = {Animals ; *Chromosomes, Insect ; *Dosage Compensation, Genetic ; Drosophila/*genetics ; Female ; Genes, X-Linked ; Genetics/*history ; History, 20th Century ; India ; Male ; Models, Genetic ; Polytene Chromosomes ; X Chromosome ; }, abstract = {Early genetic studies with Drosophila revealed similar mutant phenotypes for many X-linked genes, in males with one and in females with two copies of the mutant allele following the XY/XX mode of sex determination. These observations led to evocation of the phenomenon of dosage compensation. By the 1960s, contrasting theories were advanced by H. J. Muller and R. B. Goldschmidt to explain the equalized expression of many X-linked genes despite their dosage difference in male and female flies. Evidence from genetic studies led Muller to propose existence of many modifiers whose action on individual X-linked genes resulted, through a 'piecemeal' regulation, in equalized expression of the dosage compensated X-linked genes, while Goldschmidt believed that invocation of multiple modifiers or compensators was unnecessary since dosage compensation was a direct outcome of the sex-specific physiologies of male and female flies. Muller did not agree with some cytological studies that suggested that the single X-chromosome in male cells works twice as hard as each of the two X-chromosomes in female cells (hyperactive male X model), but preferred partial repression of each X-chromosome in female flies. This historical perspective relates these divergent theories with my own doctoral work in A. S. Mukherjee's laboratory at Calcutta University, which, while ruling out Golschmidt's sex-physiology theory, established cell-autonomous regulation of the earlier proposed hyperactivity of the single X in male Drosophila in a piecemeal manner.}, }
@article {pmid34452492, year = {2021}, author = {Nahata, KD and Bollen, N and Gill, MS and Layan, M and Bourhy, H and Dellicour, S and Baele, G}, title = {On the Use of Phylogeographic Inference to Infer the Dispersal History of Rabies Virus: A Review Study.}, journal = {Viruses}, volume = {13}, number = {8}, pages = {}, pmid = {34452492}, issn = {1999-4915}, mesh = {Animals ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Phylogeny ; Phylogeography/history ; Rabies/epidemiology/history/*veterinary/*virology ; Rabies virus/classification/genetics/*isolation & purification ; Zoonoses/epidemiology/history/transmission/virology ; }, abstract = {Rabies is a neglected zoonotic disease which is caused by negative strand RNA-viruses belonging to the genus Lyssavirus. Within this genus, rabies viruses circulate in a diverse set of mammalian reservoir hosts, is present worldwide, and is almost always fatal in non-vaccinated humans. Approximately 59,000 people are still estimated to die from rabies each year, leading to a global initiative to work towards the goal of zero human deaths from dog-mediated rabies by 2030, requiring scientific efforts from different research fields. The past decade has seen a much increased use of phylogeographic and phylodynamic analyses to study the evolution and spread of rabies virus. We here review published studies in these research areas, making a distinction between the geographic resolution associated with the available sequence data. We pay special attention to environmental factors that these studies found to be relevant to the spread of rabies virus. Importantly, we highlight a knowledge gap in terms of applying these methods when all required data were available but not fully exploited. We conclude with an overview of recent methodological developments that have yet to be applied in phylogeographic and phylodynamic analyses of rabies virus.}, }
@article {pmid34544325, year = {2021}, author = {Dason, JS and Anreiter, I and Wu, CF}, title = {Transcending boundaries: from quantitative genetics to single genes.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {95-98}, doi = {10.1080/01677063.2021.1960519}, pmid = {34544325}, issn = {1563-5260}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid34256677, year = {2021}, author = {Pereira, HS and Williams, KD and de Belle, JS}, title = {Marla Sokolowski: and now for someone completely different.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {112-116}, doi = {10.1080/01677063.2021.1940175}, pmid = {34256677}, issn = {1563-5260}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {A comprehensive science, technology, engineering, and mathematics (STEM) education has persistent formative effects on individuals, communities, and society. In this regard, Marla Sokolowski's academic legacy will forever reflect her unique contributions to STEM education and mentoring. Furthermore, her creative and multidisciplinary approach to research has resulted in groundbreaking advances in our understanding of behavior genetics. Illustrated here are a few of our life-long learning experiences drawn mainly from earlier parts of Marla's career.}, }
@article {pmid34156880, year = {2021}, author = {Boyce, WT}, title = {Travels with Curly: A personal, collegial tribute to Professor Marla Sokolowski.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {117-118}, doi = {10.1080/01677063.2021.1940174}, pmid = {34156880}, issn = {1563-5260}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {Marla Sokolowski's work and humanity has influenced the careers of hundreds, perhaps thousands, of younger scientists. Her fundamental research on the neurogenetic underpinnings of behavior in Drosophila melanogaster is remarkable not only for its scientific brilliance, but for the humility, care, and humor with which it was conducted.}, }
@article {pmid34151727, year = {2021}, author = {Reiss, AP and Rankin, CH}, title = {Gaining an understanding of behavioral genetics through studies of foraging in Drosophila and learning in C. elegans.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {119-131}, doi = {10.1080/01677063.2021.1928113}, pmid = {34151727}, issn = {1563-5260}, mesh = {Animals ; Caenorhabditis elegans/*genetics ; Drosophila/*genetics ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Learning/physiology ; }, abstract = {The pursuit of understanding behavior has led to investigations of how genes, the environment, and the nervous system all work together to produce and influence behavior, giving rise to a field of research known as behavioral neurogenetics. This review focuses on the research journeys of two pioneers of aspects of behavioral neurogenetic research: Dr. Marla Sokolowski and Dr. Catharine Rankin as examples of how different approaches have been used to understand relationships between genes and behavior. Marla Sokolowski's research is centered around the discovery and analysis of foraging, a gene responsible for the natural behavioral polymorphism of Drosophila melanogaster larvae foraging behavior. Catharine Rankin's work began with demonstrating the ability to learn in Caenorhabditis elegans and then setting out to investigate the mechanisms underlying the "simplest" form of learning, habituation. Using these simple invertebrate organisms both investigators were able to perform in-depth dissections of behavior at genetic and molecular levels. By exploring their research and highlighting their findings we present ways their work has furthered our understanding of behavior and contributed to the field of behavioral neurogenetics.}, }
@article {pmid34151712, year = {2021}, author = {Atwood, HL}, title = {Marla Sokolowski Retrospectively.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {107-109}, doi = {10.1080/01677063.2021.1940169}, pmid = {34151712}, issn = {1563-5260}, mesh = {Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {Marla Sokolowski's scientific achievements established her as an internationally recognized leader in behavioural genetics. As a graduate student, she made a significant discovery while observing natural populations of the fruit fly, Drosophila melanogaster: the larvae exhibited a behavioural polymorphism which she traced to alleles of a single gene. Some larvae were 'sitters' which fed in a restricted location, while others were 'rovers' which ranged more widely in feeding. The gene in question, foraging, codes for a cyclic GMP kinase which is expressed in numerous locations throughout larval and adult Drosophila. Building on this foundation, she and her students have elucidated the genetic and environmental factors that account for individual differences in behaviour. In this article, I review significant stages of her scientific career.}, }
@article {pmid34151704, year = {2021}, author = {Sokolowski, AB}, title = {The long view: a spouse's perspective.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {99-100}, doi = {10.1080/01677063.2021.1940170}, pmid = {34151704}, issn = {1563-5260}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Spouses ; }, }
@article {pmid34151697, year = {2021}, author = {Sokolowski, HM}, title = {Women in science: a daughter's perspective.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {101-103}, doi = {10.1080/01677063.2021.1940168}, pmid = {34151697}, issn = {1563-5260}, mesh = {*Gender Role ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Nuclear Family ; }, abstract = {In the first grade, in one of my first classes, my teacher read us a story about a scientist. To my utter shock, the scientist was a man. After the story, I asked the teacher, 'can men be scientists?' She looked at me, bewildered, and replied: 'of course, anyone can be a scientist.' It was not until later that my teacher learned that my mother is a scientist, and the only scientists I had ever met were women, like me.}, }
@article {pmid34128769, year = {2021}, author = {Greenspan, RJ}, title = {Learning about quantitative genetics from Marla Sokolowski.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {110-111}, doi = {10.1080/01677063.2021.1940167}, pmid = {34128769}, issn = {1563-5260}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {Marla Sokolowski is a true pioneer in behavioral genetics, having made the first molecular delineation of a naturally occurring behavioral polymorphism in her work on the foraging locus in Drosophila melanogaster. The gene was subsequently found to be responsible for behavioral variants and types in many other species, both invertebrate and mammal (human). The path to get there is a paradigmatic example of how to use the power of genetic analysis, including some rather esoteric techniques, to zero in on a gene and delineate its molecular identity and its pleiotropic roles.}, }
@article {pmid34121599, year = {2021}, author = {Sokolowski, DJ}, title = {Women in science: a son's perspective.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {104-106}, doi = {10.1080/01677063.2021.1940171}, pmid = {34121599}, issn = {1563-5260}, mesh = {*Gender Role ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Nuclear Family ; }, abstract = {I am often asked how our mother inspired my sister Moriah and me to want to become scientists. She never directly suggested we should go down that path. Instead, she shared the aspects of the natural world, that she loved, with us while keeping the non-science aspects of her job separate from our lives at home. Now, I have learned that her perspective provides insights that spark innovative discoveries, some of which challenged the status quo. Her passion for research has allowed her to pursue what she believes to be worth studying. Her personality and collaborative nature allow her to be teased at home, facilitate a room of diverse opinions, and command a hall of hundreds of people. Her respect for those around her is inspiring. My mom's trust in her trainees and collaborators allows her to answer questions that could fundamentally not be answered had she pigeonholed herself to a single field. She managed to accomplish everything while being nothing other than my mom to me, and I am so glad that I am growing into a person who can truly appreciate the woman she is to everyone else.}, }
@article {pmid34353344, year = {2021}, author = {Diepenbroek, M and Amory, C and Niederstätter, H and Zimmermann, B and Szargut, M and Zielińska, G and Dür, A and Teul, I and Mazurek, W and Persak, K and Ossowski, A and Parson, W}, title = {Genetic and phylogeographic evidence for Jewish Holocaust victims at the Sobibór death camp.}, journal = {Genome biology}, volume = {22}, number = {1}, pages = {200}, pmid = {34353344}, issn = {1474-760X}, mesh = {Body Remains/chemistry ; Concentration Camps/*history ; DNA, Mitochondrial/classification/*genetics ; Genetics, Population/history ; Haplotypes ; History, 20th Century ; Holocaust/*history ; Humans ; Jews/*genetics/history ; Male ; National Socialism/*history ; Phylogeography/*history ; Poland ; World War II ; }, abstract = {Six million Jews were killed by Nazi Germany and its collaborators during World War II. Archaeological excavations in the area of the death camp in Sobibór, Poland, revealed ten sets of human skeletal remains presumptively assigned to Polish victims of the totalitarian regimes. However, their genetic analyses indicate that the remains are of Ashkenazi Jews murdered as part of the mass extermination of European Jews by the Nazi regime and not of otherwise hypothesised non-Jewish partisan combatants. In accordance with traditional Jewish rite, the remains were reburied in the presence of a Rabbi at the place of their discovery.}, }
@article {pmid33861518, year = {2021}, author = {Azzi, A and Whelan, WJ}, title = {The history of IUBMB Life (1980-2020).}, journal = {IUBMB life}, volume = {73}, number = {6}, pages = {818-824}, doi = {10.1002/iub.2473}, pmid = {33861518}, issn = {1521-6551}, mesh = {Australia ; Biochemistry/*history ; Editorial Policies ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Periodicals as Topic/*history ; Publishing/history ; }, }
@article {pmid33472005, year = {2021}, author = {Kaback, HR}, title = {It's Better To Be Lucky Than Smart.}, journal = {Annual review of biochemistry}, volume = {90}, number = {}, pages = {1-29}, doi = {10.1146/annurev-biochem-011520-105008}, pmid = {33472005}, issn = {1545-4509}, support = {/HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Biological Transport ; Carbonyl Cyanide m-Chlorophenyl Hydrazone/pharmacology ; Cell Membrane/drug effects ; Cytoplasmic Vesicles/*metabolism ; Escherichia coli/cytology/drug effects/genetics/*metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Lactic Acid/metabolism ; Male ; Molecular Biology/*history ; United States ; }, abstract = {Bacterial cytoplasmic membrane vesicles provide a unique experimental system for studying active transport. Vesicles are prepared by lysis of osmotically sensitized cells (i.e., protoplasts or spheroplasts) and comprise osmotically intact, unit-membrane-bound sacs that are approximately 0.5-1.0 μm in diameter and devoid of internal structure. Their metabolic activities are restricted to those provided by the enzymes of the membrane itself, and each vesicle is functional. The energy source for accumulation of a particular substrate can be determined by studying which compounds or experimental conditions drive solute accumulation, and metabolic conversion of the transported substrate or the energy source is minimal. These properties of the vesicle system constitute a considerable advantage over intact cells, as the system provides clear definition of the reactions involved in the transport process. This discussion is not intended as a general review but is concerned with respiration-dependent active transport in membrane vesicles from Escherichia coli. Emphasis is placed on experimental observations demonstrating that respiratory energy is converted primarily into work in the form of a solute concentration gradient that is driven by a proton electrochemical gradient, as postulated by the chemiosmotic theory of Peter Mitchell.}, }
@article {pmid34245497, year = {2021}, author = {D'Cunha Burkardt, D and Sanchez-Lara, PA and Girisha, KM and Golden, JA and Carey, JC}, title = {A celebration in honor of John M. Graham, Jr, MD, ScD.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {9}, pages = {2617-2619}, doi = {10.1002/ajmg.a.62404}, pmid = {34245497}, issn = {1552-4833}, mesh = {Abnormalities, Multiple/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Teratology/*history ; }, }
@article {pmid33938622, year = {2021}, author = {Miller, M}, title = {The Dysmorphology Unit from 1976 to 1980: Fleeting fellow, deformations, and John Graham.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {9}, pages = {2622-2626}, doi = {10.1002/ajmg.a.62211}, pmid = {33938622}, issn = {1552-4833}, mesh = {Abnormalities, Multiple/*history ; Fellowships and Scholarships ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid33724671, year = {2021}, author = {Graham, JM}, title = {Reflections on a career in dysmorphology, teratology, and clinical genetics.}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {9}, pages = {2620-2621}, doi = {10.1002/ajmg.a.62171}, pmid = {33724671}, issn = {1552-4833}, mesh = {Abnormalities, Multiple/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Teratology/*history ; }, }
@article {pmid33843032, year = {2021}, author = {Melero-Martin, JM and Dudley, AC and Griffioen, AW}, title = {Adieu to parting Editor in Chief and pioneering scientist Dr. Joyce Bischoff.}, journal = {Angiogenesis}, volume = {24}, number = {2}, pages = {191-193}, pmid = {33843032}, issn = {1573-7209}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Periodicals as Topic ; }, }
@article {pmid34851393, year = {2021}, author = {Abbasi, J}, title = {After 12 Years, NIH Director Francis S. Collins Seeks His Next Chapter.}, journal = {JAMA}, volume = {326}, number = {23}, pages = {2349-2352}, doi = {10.1001/jama.2021.20987}, pmid = {34851393}, issn = {1538-3598}, mesh = {*Biomedical Research ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Music ; *National Institutes of Health (U.S.)/history/organization & administration ; *Retirement ; United States ; }, }
@article {pmid34352227, year = {2021}, author = {Almarri, MA and Haber, M and Lootah, RA and Hallast, P and Al Turki, S and Martin, HC and Xue, Y and Tyler-Smith, C}, title = {The genomic history of the Middle East.}, journal = {Cell}, volume = {184}, number = {18}, pages = {4612-4625.e14}, pmid = {34352227}, issn = {1097-4172}, support = {/WT_/Wellcome Trust/United Kingdom ; 098051//Wellcome/ ; }, mesh = {Animals ; Chromosomes, Human, Y/genetics ; Databases, Genetic ; Gene Pool ; Genetic Introgression ; Genetics, Population/*history ; *Genome, Human ; Geography ; History, Ancient ; Human Migration ; Humans ; Middle East ; Models, Genetic ; Neanderthals/genetics ; Phylogeny ; Population Density ; Selection, Genetic ; Sequence Analysis, DNA ; }, abstract = {The Middle East region is important to understand human evolution and migrations but is underrepresented in genomic studies. Here, we generated 137 high-coverage physically phased genome sequences from eight Middle Eastern populations using linked-read sequencing. We found no genetic traces of early expansions out-of-Africa in present-day populations but found Arabians have elevated Basal Eurasian ancestry that dilutes their Neanderthal ancestry. Population sizes within the region started diverging 15-20 kya, when Levantines expanded while Arabians maintained smaller populations that derived ancestry from local hunter-gatherers. Arabians suffered a population bottleneck around the aridification of Arabia 6 kya, while Levantines had a distinct bottleneck overlapping the 4.2 kya aridification event. We found an association between movement and admixture of populations in the region and the spread of Semitic languages. Finally, we identify variants that show evidence of selection, including polygenic selection. Our results provide detailed insights into the genomic and selective histories of the Middle East.}, }
@article {pmid34664940, year = {2021}, author = {Allen, KN and Whitman, CP}, title = {The Birth of Genomic Enzymology: Discovery of the Mechanistically Diverse Enolase Superfamily.}, journal = {Biochemistry}, volume = {60}, number = {46}, pages = {3515-3528}, doi = {10.1021/acs.biochem.1c00494}, pmid = {34664940}, issn = {1520-4995}, mesh = {Biochemistry/*history/methods ; Evolution, Molecular ; Genomics/*history/methods ; History, 20th Century ; Phosphopyruvate Hydratase/*genetics/history/metabolism ; Sequence Homology, Amino Acid ; }, abstract = {Enzymes are categorized into superfamilies by sequence, structural, and mechanistic similarities. The evolutionary implications can be profound. Until the mid-1990s, the approach was fragmented largely due to limited sequence and structural data. However, in 1996, Babbitt et al. published a paper in Biochemistry that demonstrated the potential power of mechanistically diverse superfamilies to identify common ancestry, predict function, and, in some cases, predict specificity. This Perspective describes the findings of the original work and reviews the current understanding of structure and mechanism in the founding family members. The outcomes of the genomic enzymology approach have reached far beyond the functional assignment of members of the enolase superfamily, inspiring the study of superfamilies and the adoption of sequence similarity networks and genome context and yielding fundamental insights into enzyme evolution.}, }
@article {pmid34861173, year = {2021}, author = {Byeon, YJJ and Islamaj, R and Yeganova, L and Wilbur, WJ and Lu, Z and Brody, LC and Bonham, VL}, title = {Evolving use of ancestry, ethnicity, and race in genetics research-A survey spanning seven decades.}, journal = {American journal of human genetics}, volume = {108}, number = {12}, pages = {2215-2223}, doi = {10.1016/j.ajhg.2021.10.008}, pmid = {34861173}, issn = {1537-6605}, mesh = {Ethnicity ; *Genetic Research/history ; History, 20th Century ; History, 21st Century ; Human Genetics/history/*trends ; Humans ; Publishing/history ; Racial Groups ; }, abstract = {To inform continuous and rigorous reflection about the description of human populations in genomics research, this study investigates the historical and contemporary use of the terms "ancestry," "ethnicity," "race," and other population labels in The American Journal of Human Genetics from 1949 to 2018. We characterize these terms' frequency of use and assess their odds of co-occurrence with a set of social and genetic topical terms. Throughout The Journal's 70-year history, "ancestry" and "ethnicity" have increased in use, appearing in 33% and 26% of articles in 2009-2018, while the use of "race" has decreased, occurring in 4% of articles in 2009-2018. Although its overall use has declined, the odds of "race" appearing in the presence of "ethnicity" has increased relative to the odds of occurring in its absence. Forms of population descriptors "Caucasian" and "Negro" have largely disappeared from The Journal (<1% of articles in 2009-2018). Conversely, the continental labels "African," "Asian," and "European" have increased in use and appear in 18%, 14%, and 42% of articles from 2009-2018, respectively. Decreasing uses of the terms "race," "Caucasian," and "Negro" are indicative of a transition away from the field's history of explicitly biological race science; at the same time, the increasing use of "ancestry," "ethnicity," and continental labels should serve to motivate ongoing reflection as the terminology used to describe genetic variation continues to evolve.}, }
@article {pmid34780108, year = {2021}, author = {Pederson, T}, title = {Francis S. Collins: Transformer and translator for NIH.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {35}, number = {12}, pages = {e22022}, doi = {10.1096/fj.202101611}, pmid = {34780108}, issn = {1530-6860}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; National Institutes of Health (U.S.)/*organization &amp; administration ; Portraits as Topic ; United States ; }, }
@article {pmid34673029, year = {2021}, author = {Burgess, RR}, title = {What is in the black box? The discovery of the sigma factor and the subunit structure of E. coli RNA polymerase.}, journal = {The Journal of biological chemistry}, volume = {297}, number = {5}, pages = {101310}, doi = {10.1016/j.jbc.2021.101310}, pmid = {34673029}, issn = {1083-351X}, mesh = {*DNA-Directed RNA Polymerases/genetics/history/metabolism ; *Escherichia coli/genetics/metabolism ; *Escherichia coli Proteins/genetics/history/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; *Sigma Factor/genetics/history/metabolism ; }, abstract = {This Reflections article is focused on the 5 years while I was a graduate student (1964-1969). During this period, I made some of the most significant discoveries of my career. I have written this article primarily for a protein biochemistry audience, my colleagues who shared this exciting time in science, and the many scientists over the last 50 years who have contributed to our knowledge of transcriptional machinery and their regulation. It is also written for today's graduate students, postdocs, and scientists who may not know much about the discoveries and technical advances that are now taken for granted, to show that even with methods primitive by today's standards, we were still able to make foundational advances. I also hope to provide a glimpse into how fortunate I was to be a graduate student over 50 years ago in the golden age of molecular biology.}, }
@article {pmid34301909, year = {2021}, author = {Ravindran, S}, title = {Profile of Patrick Cramer.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {118}, number = {30}, pages = {}, pmid = {34301909}, issn = {1091-6490}, mesh = {Computational Biology/history ; Gene Expression Regulation/*physiology ; Genome ; *Genomics/history ; Germany ; History, 20th Century ; History, 21st Century ; *Transcription, Genetic ; }, }
@article {pmid34244438, year = {2021}, author = {Viegas, J}, title = {Profile of Claude Desplan.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {118}, number = {28}, pages = {}, pmid = {34244438}, issn = {1091-6490}, mesh = {Animals ; Drosophila/genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, }
@article {pmid34001594, year = {2021}, author = {Davis, TH}, title = {Profile of Scott Edwards.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {118}, number = {21}, pages = {}, pmid = {34001594}, issn = {1091-6490}, mesh = {Allergy and Immunology/education/*history ; Biological Evolution ; Genetics, Population/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; Phylogeography/education/*history ; United States ; Zoology/education/*history ; }, }
@article {pmid33973640, year = {2021}, author = {Pehlivanoglu, B and Aysal, A and Kececi, SD and Ekmekci, S and Erdogdu, IH and Ertunc, O and Gundogdu, B and Talu, CK and Sahin, Y and Toper, MH}, title = {A Nobel-Winning Scientist: Aziz Sancar and the Impact of his Work on the Molecular Pathology of Neoplastic Diseases.}, journal = {Turk patoloji dergisi}, volume = {37}, number = {2}, pages = {93-105}, doi = {10.5146/tjpath.2020.01504}, pmid = {33973640}, issn = {1309-5730}, mesh = {Biomedical Research/*history ; Cloning, Molecular ; Cryptochromes/genetics/metabolism ; DNA Repair ; Deoxyribodipyrimidine Photo-Lyase/genetics/metabolism ; Gene Expression Regulation, Neoplastic ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/genetics/*history/metabolism/pathology ; *Nobel Prize ; Pathology, Molecular/*history ; }, abstract = {Aziz Sancar, Nobel Prize winning Turkish scientist, made several discoveries which had a major impact on molecular sciences, particularly disciplines that focus on carcinogenesis and cancer treatment, including molecular pathology. Cloning the photolyase gene, which was the initial step of his work on DNA repair mechanisms, discovery of the "Maxicell" method, explanation of the mechanism of nucleotide excision repair and transcription-coupled repair, discovery of "molecular matchmakers", and mapping human excision repair genes at single nucleotide resolution constitute his major research topics. Moreover, Sancar discovered the cryptochromes, the clock genes in humans, in 1998, and this discovery led to substantial progress in the understanding of the circadian clock and the introduction of the concept of "chrono-chemoterapy" for more effective therapy in cancer patients. This review focuses on Aziz Sancar's scientific studies and their reflections on molecular pathology of neoplastic diseases. While providing a new perspective for researchers working in the field of pathology and molecular pathology, this review is also an evidence of how basic sciences and clinical sciences complete each other.}, }
@article {pmid33658608, year = {2021}, author = {Cabrera, VM}, title = {Human molecular evolutionary rate, time dependency and transient polymorphism effects viewed through ancient and modern mitochondrial DNA genomes.}, journal = {Scientific reports}, volume = {11}, number = {1}, pages = {5036}, pmid = {33658608}, issn = {2045-2322}, mesh = {DNA, Ancient/analysis ; DNA, Mitochondrial/*genetics/history ; *Evolution, Molecular ; Genetics, Population/*history ; *Genome, Mitochondrial ; Haplotypes ; History, 21st Century ; History, Ancient ; Humans ; Mitochondria/genetics ; *Mutation Rate ; Population Density ; Time Factors ; }, abstract = {Human evolutionary genetics gives a chronological framework to interpret the human history. It is based on the molecular clock hypothesis that suppose a straightforward relationship between the mutation rate and the substitution rate with independence of other factors as demography dynamics. Analyzing ancient and modern human complete mitochondrial genomes we show here that, along the time, the substitution rate can be significantly slower or faster than the average germline mutation rate confirming a time dependence effect mainly attributable to changes in the effective population size of the human populations, with an exponential growth in recent times. We also detect that transient polymorphisms play a slowdown role in the evolutionary rate deduced from haplogroup intraspecific trees. Finally, we propose the use of the most divergent lineages within haplogroups as a practical approach to correct these molecular clock mismatches.}, }
@article {pmid33611861, year = {2021}, author = {Tsagakis, I and Vertessy, B and Wright, D}, title = {An open chat with…Beáta Vertessy.}, journal = {FEBS open bio}, volume = {11}, number = {2}, pages = {338-339}, pmid = {33611861}, issn = {2211-5463}, mesh = {Biomedical Research/history/*methods ; Europe ; Female ; Genomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Metabolomics/history/methods ; Molecular Biology/history/methods ; Research Personnel/history ; Societies, Scientific/history/organization &amp; administration ; }, }
@article {pmid34568895, year = {2021}, author = {Eve, A}, title = {Transitions in development - an interview with Tom Nowakowski.}, journal = {Development (Cambridge, England)}, volume = {148}, number = {19}, pages = {}, doi = {10.1242/dev.200084}, pmid = {34568895}, issn = {1477-9129}, mesh = {Developmental Biology/*history ; Genetics/*history ; History, 21st Century ; Poland ; United States ; }, abstract = {Tom Nowakowski is an Assistant Professor at University of California San Francisco (UCSF), where he uses single-cell sequencing technologies to study neurodevelopment. He is also a Chan Zuckerberg Biohub Investigator and a Next Generation Leader at the Allen Institute for Brain Science. We met with Tom over Zoom to hear more about his career, his transition to becoming a group leader and his plans for the future.}, }
@article {pmid33833062, year = {2021}, author = {Ahmed, F}, title = {Profile of Howard Y. Chang.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {118}, number = {15}, pages = {}, pmid = {33833062}, issn = {1091-6490}, mesh = {Computational Biology/*history ; Dermatology/history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid33766624, year = {2021}, author = {Borovik, A}, title = {A mathematician's view of the unreasonable ineffectiveness of mathematics in biology.}, journal = {Bio Systems}, volume = {205}, number = {}, pages = {104410}, doi = {10.1016/j.biosystems.2021.104410}, pmid = {33766624}, issn = {1872-8324}, mesh = {Biological Evolution ; Biology/*history/methods ; Genomics/history/methods ; History, 20th Century ; History, 21st Century ; Mathematics/*history/methods ; Philosophy/history ; Physics/history/methods ; United States ; }, abstract = {This paper discusses, from a mathematician's point of view, the thesis formulated by Israel Gelfand, one of the greatest mathematicians of the 20th century, and one of the pioneers of mathematical biology, about the unreasonable ineffectiveness of mathematics in biology as compared with the obvious success of mathematics in physics. The author discusses the limitations of the mainstream mathematics of today when it is used in biology. He suggests that some emerging directions in mathematics have potential to enhance the role of mathematics in biology.}, }
@article {pmid33416941, year = {2021}, author = {de la Vega, CG and Gómez, R and Page, J and Parra, MT and Santos, JL and Suja, JA and Viera, A}, title = {Julio S. Rufas: A true chromosome lover.}, journal = {Chromosoma}, volume = {130}, number = {1}, pages = {1-2}, doi = {10.1007/s00412-020-00748-3}, pmid = {33416941}, issn = {1432-0886}, mesh = {Animals ; Chromosomes/*genetics ; Cytogenetics/*history ; Grasshoppers ; History, 20th Century ; History, 21st Century ; *Meiosis ; }, }
@article {pmid32729254, year = {2019}, author = {Valdebenito, J and Medina, F}, title = {Machine learning approaches to study glioblastoma: A review of the last decade of applications.}, journal = {Cancer reports (Hoboken, N.J.)}, volume = {2}, number = {6}, pages = {e1226}, pmid = {32729254}, issn = {2573-8348}, mesh = {Brain Neoplasms/*genetics/pathology ; Datasets as Topic ; *Genetic Heterogeneity ; Genomics/history/*methods/trends ; Glioblastoma/*genetics/pathology ; History, 21st Century ; Humans ; Machine Learning/history/*trends ; }, abstract = {BACKGROUND: Glioblastoma (GB, formally glioblastoma multiforme) is a malignant type of brain cancer that currently has no cure and is characterized by being highly heterogeneous with high rates of re-incidence and therapy resistance. Thus, it is urgent to characterize the mechanisms of GB pathogenesis to help researchers identify novel therapeutic targets to cure this devastating disease. Recently, a promising approach to identifying novel therapeutic targets is the integration of tumor omics data with clinical information using machine learning (ML) techniques.<br><br>RECENT FINDINGS: ML has become a valuable addition to the researcher's toolbox, thanks to its flexibility, multidimensional approach, and a growing community of users. The goal of this review is to introduce basic concepts and applications of ML for studying GB to clinicians and practitioners who are new to data science. ML applications include exploring large data sets, finding new relevant patterns, predicting outcomes, or merely understanding associations of the complex molecular networks presented within the tumor. Here, we review ML applications published between 2008 and 2018 and discuss ML strategies intending to identify new potential therapeutic targets to improve the management and treatment of GB.<br><br>CONCLUSIONS: ML applications to study GB vary in purpose and complexity, with positive results. In GB studies, ML is often used to analyze high-dimensional datasets with prediction or classification as a primary goal. Despite the strengths of ML techniques, they are not fail-safe and methodological issues can occur in GB studies that use them. This is why researchers need to be aware of these issues when planning and appraising studies that apply ML to the study of GB.}, }
@article {pmid34196608, year = {2021}, author = {Ikle, JM and Gloyn, AL}, title = {100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function.}, journal = {The Journal of endocrinology}, volume = {250}, number = {3}, pages = {R23-R35}, doi = {10.1530/JOE-21-0067}, pmid = {34196608}, issn = {1479-6805}, support = {U01 DK105535/DK/NIDDK NIH HHS/United States ; U01 DK085545/DK/NIDDK NIH HHS/United States ; UM1 DK126185/DK/NIDDK NIH HHS/United States ; P30 DK116074/DK/NIDDK NIH HHS/United States ; K12 DK122550/DK/NIDDK NIH HHS/United States ; }, mesh = {Animals ; Cell Differentiation/genetics ; Diabetes Mellitus/drug therapy/*genetics/history ; Genetic Predisposition to Disease ; Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; Insulin/genetics/*history/therapeutic use ; Insulin-Secreting Cells/*physiology ; Pancreas/embryology/growth &amp; development/metabolism ; }, abstract = {Since the discovery of insulin 100 years ago, our knowledge and understanding of diabetes have grown exponentially. Specifically, with regards to the genetics underlying diabetes risk, our discoveries have paralleled developments in our understanding of the human genome and our ability to study genomics at scale; these advancements in genetics have both accompanied and led to those in diabetes treatment. This review will explore the timeline and history of gene discovery and how this has coincided with progress in the fields of genomics. Examples of genetic causes of monogenic diabetes are presented and the continuing expansion of allelic series in these genes and the challenges these now cause for diagnostic interpretation along with opportunities for patient stratification are discussed.}, }
@article {pmid33579863, year = {2021}, author = {Monckton, DG}, title = {The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington's Disease: A Historical Perspective.}, journal = {Journal of Huntington's disease}, volume = {10}, number = {1}, pages = {7-33}, pmid = {33579863}, issn = {1879-6400}, mesh = {Animals ; Anticipation, Genetic/*genetics ; DNA Repair/*genetics ; Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Huntington Disease/*genetics/*physiopathology ; Trinucleotide Repeat Expansion/*genetics ; }, abstract = {The discovery in the early 1990s of the expansion of unstable simple sequence repeats as the causative mutation for a number of inherited human disorders, including Huntington's disease (HD), opened up a new era of human genetics and provided explanations for some old problems. In particular, an inverse association between the number of repeats inherited and age at onset, and unprecedented levels of germline instability, biased toward further expansion, provided an explanation for the wide symptomatic variability and anticipation observed in HD and many of these disorders. The repeats were also revealed to be somatically unstable in a process that is expansion-biased, age-dependent and tissue-specific, features that are now increasingly recognised as contributory to the age-dependence, progressive nature and tissue specificity of the symptoms of HD, and at least some related disorders. With much of the data deriving from affected individuals, and model systems, somatic expansions have been revealed to arise in a cell division-independent manner in critical target tissues via a mechanism involving key components of the DNA mismatch repair pathway. These insights have opened new approaches to thinking about how the disease could be treated by suppressing somatic expansion and revealed novel protein targets for intervention. Exciting times lie ahead in turning these insights into novel therapies for HD and related disorders.}, }
@article {pmid33080621, year = {2020}, author = {}, title = {Society for Glycobiology Awards-2020.}, journal = {Glycobiology}, volume = {30}, number = {12}, pages = {936-940}, doi = {10.1093/glycob/cwaa088}, pmid = {33080621}, issn = {1460-2423}, mesh = {*Awards and Prizes ; *Glycomics/history ; History, 20th Century ; History, 21st Century ; Humans ; *Societies, Scientific/history ; }, }
@article {pmid33492222, year = {2021}, author = {Jordan, B}, title = {[CRISPR Nobel, at last…].}, journal = {Medecine sciences : M/S}, volume = {37}, number = {1}, pages = {77-80}, doi = {10.1051/medsci/2020255}, pmid = {33492222}, issn = {1958-5381}, mesh = {Biochemistry/history ; Chemistry/history ; *Clustered Regularly Interspaced Short Palindromic Repeats/genetics ; Female ; France ; Gender Role ; History, 20th Century ; History, 21st Century ; Humans ; *Laboratory Personnel/history ; Molecular Biology/history ; *Nobel Prize ; United States ; }, abstract = {The 2020 Nobel Prize in chemistry rewards two brilliant scientists who have followed quite different career paths but have collaborated very successfully. Of course, the history of the CRISPR system is complex and involves many other individuals, but their contribution has been essential. It is difficult to overstate the importance of this system for the functional interpretation of massive genome data as well as for (sometimes problematic) clinical applications.}, }
@article {pmid33866812, year = {2021}, author = {Loison, L}, title = {Epigenetic inheritance and evolution: a historian's perspective.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {376}, number = {1826}, pages = {20200120}, pmid = {33866812}, issn = {1471-2970}, mesh = {*Adaptation, Biological ; *Biological Evolution ; *Epigenesis, Genetic ; Epigenomics/*history ; Heredity ; History, 19th Century ; History, 20th Century ; History, 21st Century ; }, abstract = {The aim of this article is to put the growing interest in epigenetics in the field of evolutionary theory into a historical context. First, I assess the view that epigenetic inheritance could be seen as vindicating a revival of (neo)Lamarckism. Drawing on Jablonka's and Lamb's considerable output, I identify several differences between modern epigenetics and what Lamarckism was in the history of science. Even if Lamarckism is not back, epigenetic inheritance might be appealing for evolutionary biologists because it could potentiate two neglected mechanisms: the Baldwin effect and genetic assimilation. Second, I go back to the first ideas about the Baldwin effect developed in the late nineteenth century to show that the efficiency of this mechanism was already linked with a form of non-genetic inheritance. The opposition to all forms of non-genetic inheritance that prevailed at the time of the rise of the Modern Synthesis helps to explain why the Baldwin effect was understood as an insignificant mechanism during the second half of the twentieth century. Based on this historical reconstruction, in §4, I examine what modern epigenetics can bring to the picture and under what conditions epigenetic inheritance might be seen as strengthening the causal relationship between adaptability and adaptation. Throughout I support the view that the Baldwin effect and genetic assimilation, even if they are quite close, should not be conflated, and that drawing a line between these concepts is helpful in order to better understand where epigenetic inheritance might endorse a new causal role. This article is part of the theme issue 'How does epigenetics influence the course of evolution?'}, }
@article {pmid33844305, year = {2021}, author = {Batista, FD}, title = {In conversation with the Chief Editor.}, journal = {The EMBO journal}, volume = {40}, number = {8}, pages = {e108116}, pmid = {33844305}, issn = {1460-2075}, mesh = {Allergy and Immunology/history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/organization &amp; administration ; Periodicals as Topic ; }, abstract = {An interview with Facundo D Batista, The EMBO Journal new Editor-in-Chief.}, }
@article {pmid33689207, year = {2021}, author = {Cooper, KL}, title = {In the Spotlight-Early Career Researcher.}, journal = {Journal of experimental zoology. Part B, Molecular and developmental evolution}, volume = {336}, number = {5}, pages = {391-392}, doi = {10.1002/jez.b.23033}, pmid = {33689207}, issn = {1552-5015}, mesh = {*Career Choice ; *Developmental Biology/history ; *Genetics/history ; History, 21st Century ; Humans ; }, }
@article {pmid33609361, year = {2021}, author = {Mendenhall, AR and Lithgow, GJ and Kim, S and Friedman, D and Newell-Stamper, BL and Johnson, TE}, title = {Career Retrospective: Tom Johnson-Genetics, Genomics, Stress, Stochastic Variation, and Aging.}, journal = {The journals of gerontology. Series A, Biological sciences and medical sciences}, volume = {76}, number = {7}, pages = {e85-e91}, doi = {10.1093/gerona/glab050}, pmid = {33609361}, issn = {1758-535X}, mesh = {*Aging ; Genomics/*history ; Geriatrics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Oxidative Stress ; Stochastic Processes ; }, }
@article {pmid34118769, year = {2021}, author = {Hanawalt, PC and Samson, LD and Van Houten, B}, title = {The life and legacy of Sam Wilson (1939-2021).}, journal = {DNA repair}, volume = {104}, number = {}, pages = {103138}, doi = {10.1016/j.dnarep.2021.103138}, pmid = {34118769}, issn = {1568-7856}, mesh = {Biochemistry/*history ; *DNA Repair ; Genetics/*history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid33956175, year = {2021}, author = {Sollid, LM and Lundin, KEA and Leivestad, T and Spurkland, A and Vartdal, F}, title = {Erik Thorsby (1938-2021).}, journal = {Immunogenetics}, volume = {73}, number = {3}, pages = {203-205}, pmid = {33956175}, issn = {1432-1211}, mesh = {HLA Antigens/*genetics/*immunology ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; }, }
@article {pmid33662125, year = {2021}, author = {Wynshaw-Boris, A}, title = {EDITORIAL: 'An Improbable Fifteen Years as Executive Editor'.}, journal = {Human molecular genetics}, volume = {30}, number = {1}, pages = {1-2}, doi = {10.1093/hmg/ddaa266}, pmid = {33662125}, issn = {1460-2083}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Peer Review, Research/*trends ; }, }
@article {pmid34548642, year = {2021}, author = {Jackson, L and Tsosie, KS and Fox, K}, title = {Changing the wrapping won't fix genetic-racism package.}, journal = {Nature}, volume = {597}, number = {7877}, pages = {475}, doi = {10.1038/d41586-021-02553-z}, pmid = {34548642}, issn = {1476-4687}, mesh = {Continental Population Groups/*genetics/history ; Genetics/*ethics/history ; History, 18th Century ; History, 21st Century ; Humans ; Racism/history/*prevention &amp; control ; }, }
@article {pmid34410492, year = {2021}, author = {Aneli, S and Caldon, M and Saupe, T and Montinaro, F and Pagani, L}, title = {Through 40,000 years of human presence in Southern Europe: the Italian case study.}, journal = {Human genetics}, volume = {140}, number = {10}, pages = {1417-1431}, pmid = {34410492}, issn = {1432-1203}, mesh = {DNA, Ancient/*analysis ; European Continental Ancestry Group/*genetics/*history ; *Evolution, Molecular ; *Genetic Variation ; *Genome, Human ; Genomics/*history ; History, Ancient ; History, Medieval ; Humans ; Italy ; }, abstract = {The Italian Peninsula, a natural pier across the Mediterranean Sea, witnessed intricate population events since the very beginning of the human occupation in Europe. In the last few years, an increasing number of modern and ancient genomes from the area have been published by the international research community. This genomic perspective started unveiling the relevance of Italy to understand the post-Last Glacial Maximum (LGM) re-peopling of Europe, the earlier phase of the Neolithic westward migrations, and its linking role between Eastern and Western Mediterranean areas after the Iron Age. However, many open questions are still waiting for more data to be addressed in full. With this review, we summarize the current knowledge emerging from the available ancient Italian individuals and, by re-analysing them all at once, we try to shed light on the avenues future research in the area should cover. In particular, open questions concern (1) the fate of pre-Villabruna Europeans and to what extent their genomic components were absorbed by the post-LGM hunter-gatherers; (2) the role of Sicily and Sardinia before LGM; (3) to what degree the documented genetic structure within the Early Neolithic settlers can be described as two separate migrations; (4) what are the population events behind the marked presence of an Iranian Neolithic-like component in Bronze Age and Iron Age Italian and Southern European samples.}, }
@article {pmid34542234, year = {2021}, author = {,  and Heck, A}, title = {Editor Profile: Albert Heck.}, journal = {The FEBS journal}, volume = {288}, number = {18}, pages = {5228-5230}, doi = {10.1111/febs.15888}, pmid = {34542234}, issn = {1742-4658}, mesh = {History, 21st Century ; Humans ; Male ; Mass Spectrometry/*trends ; Proteomics/history/*trends ; }, abstract = {In this special interview series, we profile members of The FEBS Journal editorial board to highlight their research and perspectives on the journal and more. Albert Heck is Professor of Chemistry and Pharmaceutical Sciences at Utrecht University, Scientific Director of the Netherlands Proteomics Center, and Head of the Biomolecular Mass Spectrometry and Proteomics group in Utrecht University since September 1998. He has served as Editorial Board Member of The FEBS Journal since 2020.}, }
@article {pmid34439777, year = {2021}, author = {Dorado, G and Gálvez, S and Rosales, TE and Vásquez, VF and Hernández, P}, title = {Analyzing Modern Biomolecules: The Revolution of Nucleic-Acid Sequencing - Review.}, journal = {Biomolecules}, volume = {11}, number = {8}, pages = {}, pmid = {34439777}, issn = {2218-273X}, mesh = {Animals ; Base Sequence ; DNA/chemistry ; *Genome ; Genomics/history/*methods ; High-Throughput Nucleotide Sequencing/history/instrumentation/*methods ; History, 20th Century ; History, 21st Century ; Humans ; RNA, Messenger/chemistry ; Sequence Analysis, DNA/history/instrumentation/*methods ; Sequence Analysis, RNA/history/instrumentation/*methods ; Whole Genome Sequencing/history/instrumentation/*methods ; }, abstract = {Recent developments have revolutionized the study of biomolecules. Among them are molecular markers, amplification and sequencing of nucleic acids. The latter is classified into three generations. The first allows to sequence small DNA fragments. The second one increases throughput, reducing turnaround and pricing, and is therefore more convenient to sequence full genomes and transcriptomes. The third generation is currently pushing technology to its limits, being able to sequence single molecules, without previous amplification, which was previously impossible. Besides, this represents a new revolution, allowing researchers to directly sequence RNA without previous retrotranscription. These technologies are having a significant impact on different areas, such as medicine, agronomy, ecology and biotechnology. Additionally, the study of biomolecules is revealing interesting evolutionary information. That includes deciphering what makes us human, including phenomena like non-coding RNA expansion. All this is redefining the concept of gene and transcript. Basic analyses and applications are now facilitated with new genome editing tools, such as CRISPR. All these developments, in general, and nucleic-acid sequencing, in particular, are opening a new exciting era of biomolecule analyses and applications, including personalized medicine, and diagnosis and prevention of diseases for humans and other animals.}, }
@article {pmid32705495, year = {2021}, author = {Conti, AA}, title = {"A hundred years since the birth of Rosalind Elsie Franklin, a brilliant and gifted scientist".}, journal = {Internal and emergency medicine}, volume = {16}, number = {2}, pages = {531-532}, pmid = {32705495}, issn = {1970-9366}, mesh = {Crystallography, X-Ray/*history ; DNA/*chemistry/*history ; England ; History, 20th Century ; Humans ; Molecular Biology/history ; Nobel Prize ; Nucleic Acid Conformation ; Sexism ; }, }
@article {pmid34416135, year = {2021}, author = {}, title = {Meet the authors: Michael Ranes and Sebastian Guettler.}, journal = {Molecular cell}, volume = {81}, number = {16}, pages = {3237-3240}, doi = {10.1016/j.molcel.2021.08.002}, pmid = {34416135}, issn = {1097-4164}, mesh = {Axin Protein/chemistry/*genetics ; History, 21st Century ; Humans ; Male ; Molecular Biology/*history ; Phosphorylation/genetics ; Protein Processing, Post-Translational/*genetics ; Ubiquitination/genetics ; }, abstract = {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.}, }
@article {pmid34416134, year = {2021}, author = {}, title = {The power of perpetual collaboration: An interview with Elçin Ünal and Gloria Brar.}, journal = {Molecular cell}, volume = {81}, number = {16}, pages = {3229-3236}, doi = {10.1016/j.molcel.2021.08.001}, pmid = {34416134}, issn = {1097-4164}, mesh = {Female ; History, 21st Century ; Humans ; Intersectoral Collaboration ; Molecular Biology/*history ; Science/*history ; }, abstract = {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.}, }
@article {pmid33789353, year = {2021}, author = {Lipshitz, HD}, title = {The Descent of Databases.}, journal = {Genetics}, volume = {217}, number = {3}, pages = {}, pmid = {33789353}, issn = {1943-2631}, mesh = {Animals ; *Databases, Genetic ; Drosophila melanogaster/genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid34342148, year = {2021}, author = {,  and Derry, B}, title = {Editor Profile: Brent Derry.}, journal = {The FEBS journal}, volume = {288}, number = {15}, pages = {4435-4438}, doi = {10.1111/febs.15893}, pmid = {34342148}, issn = {1742-4658}, mesh = {Animals ; Caenorhabditis elegans/genetics ; Canada ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, abstract = {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 &amp; 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.}, }
@article {pmid34342144, year = {2021}, author = {The Febs Journal Editorial Team,  and Lee, H}, title = {Editor Profile: Hyunsook Lee.}, journal = {The FEBS journal}, volume = {288}, number = {15}, pages = {4439-4441}, doi = {10.1111/febs.15890}, pmid = {34342144}, issn = {1742-4658}, mesh = {BRCA1 Protein/genetics ; Cell Biology/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Republic of Korea ; }, abstract = {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.}, }
@article {pmid34062774, year = {2021}, author = {Fernández-Medarde, A and De Las Rivas, J and Santos, E}, title = {40 Years of RAS-A Historic Overview.}, journal = {Genes}, volume = {12}, number = {5}, pages = {}, pmid = {34062774}, issn = {2073-4425}, mesh = {Animals ; Carcinogenesis/genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Signal Transduction ; ras Proteins/*genetics/metabolism ; }, abstract = {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.}, }
@article {pmid32574450, year = {2020}, author = {Araújo Neto, LA and Teixeira, LA}, title = {New problems of a new health system: the creation of a national public policy of rare diseases care in Brazil (1990s-2010s).}, journal = {Salud colectiva}, volume = {16}, number = {}, pages = {e2210}, doi = {10.18294/sc.2020.2210}, pmid = {32574450}, issn = {1851-8265}, mesh = {Brazil ; Delivery of Health Care, Integrated/history/legislation &amp; jurisprudence ; *Genetic Diseases, Inborn/history/therapy ; *Genetics, Medical/history ; *Health Policy/economics/history/legislation &amp; jurisprudence ; History, 20th Century ; History, 21st Century ; Humans ; *National Health Programs/economics/history/legislation &amp; jurisprudence/organization &amp; administration ; Newspapers as Topic ; Patient Rights ; Politics ; *Rare Diseases/classification/genetics/history/therapy ; Self-Help Groups/history/organization &amp; administration ; Terminology as Topic ; }, abstract = {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.}, }
@article {pmid34011428, year = {2021}, author = {McGovern, MF}, title = {Genes go digital: Mendelian Inheritance in Man and the genealogy of electronic publishing in biomedicine.}, journal = {British journal for the history of science}, volume = {54}, number = {2}, pages = {213-231}, doi = {10.1017/S0007087421000224}, pmid = {34011428}, issn = {1474-001X}, mesh = {Databases, Genetic/*history ; Genetics, Medical/*history ; *Heredity ; History, 20th Century ; History, 21st Century ; Humans ; Publishing/*history ; }, abstract = {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.}, }
@article {pmid33721188, year = {2021}, author = {Limon, J and Mrózek, K}, title = {Albert de la Chapelle-pro memoriam.}, journal = {Journal of applied genetics}, volume = {62}, number = {3}, pages = {455-458}, pmid = {33721188}, issn = {2190-3883}, mesh = {Cytogenetics/*history ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; }, abstract = {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.}, }
@article {pmid33683372, year = {2021}, author = {Lipshitz, HD}, title = {The Origin of GENETICS.}, journal = {Genetics}, volume = {217}, number = {1}, pages = {1-2}, pmid = {33683372}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; Periodicals as Topic/*history ; }, }
@article {pmid33822223, year = {2021}, author = {Zebell, SG}, title = {A broad view: Dick Flavell.}, journal = {Plant physiology}, volume = {185}, number = {3}, pages = {727-730}, pmid = {33822223}, issn = {1532-2548}, mesh = {Adult ; *Genome, Plant ; History, 21st Century ; Humans ; Male ; Middle Aged ; Molecular Biology/*history ; Research Personnel/*history ; Triticum/*genetics ; United Kingdom ; }, }
@article {pmid33301372, year = {2021}, author = {Rushton, AR}, title = {Counting human chromosomes before 1960: preconceptions, perceptions and predilections.}, journal = {Annals of science}, volume = {78}, number = {1}, pages = {92-116}, doi = {10.1080/00033790.2020.1854854}, pmid = {33301372}, issn = {1464-505X}, mesh = {*Chromosomes, Human ; Cytogenetic Analysis/*history ; Cytogenetics/*history ; History, 20th Century ; Humans ; *Karyotype ; Karyotyping ; }, abstract = {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.}, }
@article {pmid34286923, year = {2021}, author = {Minor, W and Jaskolski, M and Martin, SJ and Dauter, Z}, title = {Dr. Alexander Wlodawer-celebrating five decades of service to the structural biology community.}, journal = {The FEBS journal}, volume = {288}, number = {14}, pages = {4160-4164}, doi = {10.1111/febs.16064}, pmid = {34286923}, issn = {1742-4658}, mesh = {Crystallography/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, abstract = {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.}, }
@article {pmid34237886, year = {2021}, author = {Breslauer, KJ}, title = {The shaping of a molecular linguist: How a career studying DNA energetics revealed the language of molecular communication.}, journal = {The Journal of biological chemistry}, volume = {296}, number = {}, pages = {100522}, pmid = {34237886}, issn = {1083-351X}, mesh = {*DNA/chemistry/genetics/metabolism ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Thermodynamics ; }, abstract = {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.}, }
@article {pmid33957126, year = {2021}, author = {Richardson, JS and Richardson, DC and Goodsell, DS}, title = {Seeing the PDB.}, journal = {The Journal of biological chemistry}, volume = {296}, number = {}, pages = {100742}, pmid = {33957126}, issn = {1083-351X}, support = {P01 GM063210/GM/NIGMS NIH HHS/United States ; R01 GM120604/GM/NIGMS NIH HHS/United States ; R01 GM133198/GM/NIGMS NIH HHS/United States ; R35 GM131883/GM/NIGMS NIH HHS/United States ; }, mesh = {Databases, Protein/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Molecular ; Molecular Biology/*history ; }, abstract = {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.}, }
@article {pmid33957125, year = {2021}, author = {Wolberger, C}, title = {How structural biology transformed studies of transcription regulation.}, journal = {The Journal of biological chemistry}, volume = {296}, number = {}, pages = {100741}, pmid = {33957125}, issn = {1083-351X}, support = {R35 GM130393/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; DNA/history/*metabolism ; Databases, Protein/*history ; *Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Protein Binding ; Protein Conformation ; *Transcription, Genetic ; }, abstract = {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.}, }
@article {pmid33957123, year = {2021}, author = {Sali, A}, title = {From integrative structural biology to cell biology.}, journal = {The Journal of biological chemistry}, volume = {296}, number = {}, pages = {100743}, pmid = {33957123}, issn = {1083-351X}, support = {P01 GM118303/GM/NIGMS NIH HHS/United States ; P01 AG002132/AG/NIA NIH HHS/United States ; U54 DK107981/DK/NIDDK NIH HHS/United States ; R01 GM083960/GM/NIGMS NIH HHS/United States ; U19 AI135990/AI/NIAID NIH HHS/United States ; R01 GM133198/GM/NIGMS NIH HHS/United States ; P50 AI150476/AI/NIAID NIH HHS/United States ; P41 GM109824/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Cell Biology/*history ; Databases, Protein/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Molecular ; Molecular Biology/*history ; }, abstract = {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.}, }
@article {pmid33957120, year = {2021}, author = {Michalska, K and Joachimiak, A}, title = {Structural genomics and the Protein Data Bank.}, journal = {The Journal of biological chemistry}, volume = {296}, number = {}, pages = {100747}, pmid = {33957120}, issn = {1083-351X}, support = {HHSN272201700060C/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; Computational Biology/*history ; Databases, Protein ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Molecular ; }, abstract = {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.}, }
@article {pmid33608463, year = {2021}, author = {Viegas, J}, title = {Profile of Mark Stoneking.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {118}, number = {8}, pages = {}, pmid = {33608463}, issn = {1091-6490}, mesh = {Archaeology/*history ; Genetics/*history ; *Genetics, Population ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid33160399, year = {2020}, author = {Ortiz, R}, title = {Göte Turesson's research legacy to Hereditas: from the ecotype concept in plants to the analysis of landraces' diversity in crops.}, journal = {Hereditas}, volume = {157}, number = {1}, pages = {44}, pmid = {33160399}, issn = {1601-5223}, mesh = {Crops, Agricultural/*genetics ; *Famous Persons ; *Genetic Research/history ; History, 20th Century ; History, 21st Century ; *Periodicals as Topic ; Plants/*genetics ; }, abstract = {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.}, }
@article {pmid33202852, year = {2020}, author = {Roca-Rada, X and Souilmi, Y and Teixeira, JC and Llamas, B}, title = {Ancient DNA Studies in Pre-Columbian Mesoamerica.}, journal = {Genes}, volume = {11}, number = {11}, pages = {}, pmid = {33202852}, issn = {2073-4425}, mesh = {Archaeology ; Central America ; *DNA, Ancient ; Genetics, Population/*history ; History, Ancient ; Humans ; Population Dynamics ; }, abstract = {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.}, }
@article {pmid30945135, year = {2021}, author = {Gong, W and Cui, L and Ying, Y and Shen, Y and Bao, J}, title = {Professor Cuifen Huang: a great molecular geneticist and the founder of genetic engineering in China.}, journal = {Protein &amp; cell}, volume = {12}, number = {3}, pages = {159-161}, doi = {10.1007/s13238-019-0620-5}, pmid = {30945135}, issn = {1674-8018}, mesh = {China ; Genetic Engineering/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; }, }
@article {pmid33446021, year = {2020}, author = {Stretton, AOW}, title = {My life with Sydney, 1961-1971.}, journal = {Journal of neurogenetics}, volume = {34}, number = {3-4}, pages = {225-237}, doi = {10.1080/01677063.2020.1834544}, pmid = {33446021}, issn = {1563-5260}, mesh = {Animals ; Ascaris suum/physiology ; Caenorhabditis elegans/cytology/physiology ; Developmental Biology/*history ; England ; Genetic Code ; History, 20th Century ; Molecular Biology/*history ; Mutagenesis ; Neurosciences/*history ; Synaptic Transmission ; }, abstract = {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.}, }
@article {pmid33446017, year = {2020}, author = {Waterston, RH and Moerman, DG}, title = {John Sulston (1942-2018): a personal perspective.}, journal = {Journal of neurogenetics}, volume = {34}, number = {3-4}, pages = {238-246}, doi = {10.1080/01677063.2020.1833008}, pmid = {33446017}, issn = {1563-5260}, mesh = {Animals ; Caenorhabditis elegans/cytology/embryology/genetics/physiology ; Cell Lineage ; Cloning, Molecular/methods ; Contig Mapping/history ; Cryopreservation ; Developmental Biology/*history ; Gene Library ; Genome ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; Larva ; Nervous System/cytology/embryology/growth &amp; development ; Neurons/cytology ; Neurosciences/*history ; Sequence Analysis, DNA/history ; Synaptic Transmission ; }, abstract = {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.}, }
@article {pmid33054383, year = {2021}, author = {Kendler, KS}, title = {The Prehistory of Psychiatric Genetics: 1780-1910.}, journal = {The American journal of psychiatry}, volume = {178}, number = {6}, pages = {490-508}, doi = {10.1176/appi.ajp.2020.20030326}, pmid = {33054383}, issn = {1535-7228}, mesh = {Genetic Predisposition to Disease ; Genetics/history ; Genetics, Behavioral/*history ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Mental Disorders/*genetics ; Psychiatry/*history ; }, abstract = {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.}, }
@article {pmid32728828, year = {2020}, author = {Weiss, RA}, title = {A perspective on the early days of RAS research.}, journal = {Cancer metastasis reviews}, volume = {39}, number = {4}, pages = {1023-1028}, pmid = {32728828}, issn = {1573-7233}, mesh = {Animals ; Genes, Tumor Suppressor ; *Genes, ras ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/*genetics ; }, abstract = {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.}, }
@article {pmid33268388, year = {2020}, author = {Reha-Krantz, LJ and Goodman, MF}, title = {John W. (Jan) Drake: A Biochemical View of a Geneticist Par Excellence.}, journal = {Genetics}, volume = {216}, number = {4}, pages = {827-836}, pmid = {33268388}, issn = {1943-2631}, mesh = {Bacteriophage T4/genetics ; DNA Replication ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mutagenesis ; }, abstract = {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.}, }
@article {pmid33158983, year = {2020}, author = {Bender, WW}, title = {Molecular Lessons from the Drosophila Bithorax Complex.}, journal = {Genetics}, volume = {216}, number = {3}, pages = {613-617}, pmid = {33158983}, issn = {1943-2631}, support = {R01 GM028630/GM/NIGMS NIH HHS/United States ; }, mesh = {Awards and Prizes ; Drosophila Proteins/genetics/*metabolism ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Homeodomain Proteins/genetics/*metabolism ; Societies, Scientific ; Transcription Factors/genetics/*metabolism ; }, abstract = {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.}, }
@article {pmid33158982, year = {2020}, author = {Fink, GR}, title = {A Morgan Legacy.}, journal = {Genetics}, volume = {216}, number = {3}, pages = {611-612}, pmid = {33158982}, issn = {1943-2631}, mesh = {Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Saccharomyces cerevisiae/genetics ; }, abstract = {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.}, }
@article {pmid33023927, year = {2020}, author = {Botstein, D}, title = {Perspective: Linkage Maps, Communities of Geneticists, and Genome Databases.}, journal = {Genetics}, volume = {216}, number = {2}, pages = {261-262}, pmid = {33023927}, issn = {1943-2631}, mesh = {Awards and Prizes ; Communication ; Databases, Genetic/*history ; *Genetic Linkage ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {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.}, }
@article {pmid34037863, year = {2021}, author = {Yu, X and Li, H}, title = {Origin of ethnic groups, linguistic families, and civilizations in China viewed from the Y chromosome.}, journal = {Molecular genetics and genomics : MGG}, volume = {296}, number = {4}, pages = {783-797}, pmid = {34037863}, issn = {1617-4623}, support = {2020YFE0201600//the National Key R&amp;D Program of China/ ; 91731303//National Natural Science Foundation of China/ ; 31671297//National Natural Science Foundation of China/ ; 18490750300//B&amp;R Joint Laboratory of Eurasian Anthropology/ ; ERC-2019-AdG-TRAM-883700//European Research Council project/ ; }, mesh = {Anthropology, Cultural ; Asian Continental Ancestry Group/classification/ethnology/genetics ; China/ethnology ; Chromosomes, Human, Y/*genetics ; Civilization/*history ; Ethnic Groups/classification/genetics/*history ; Far East/ethnology ; Gene Flow ; Genetics, Population/history ; History, Ancient ; Humans ; Linguistics/classification/history ; Phylogeny ; }, abstract = {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.}, }
@article {pmid34019784, year = {2021}, author = {}, title = {Meet the author: Amy Tresenrider.}, journal = {Molecular cell}, volume = {81}, number = {10}, pages = {2055-2056}, doi = {10.1016/j.molcel.2021.04.026}, pmid = {34019784}, issn = {1097-4164}, mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {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.}, }
@article {pmid33961778, year = {2021}, author = {Byers, PH}, title = {2020 McKusick Award address.}, journal = {American journal of human genetics}, volume = {108}, number = {5}, pages = {761-763}, doi = {10.1016/j.ajhg.2021.03.021}, pmid = {33961778}, issn = {1537-6605}, mesh = {Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; Societies, Scientific ; United States ; }, abstract = {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.}, }
@article {pmid33961772, year = {2021}, author = {}, title = {Meet the authors: Ewelina M. Małecka and Sarah A. Woodson.}, journal = {Molecular cell}, volume = {81}, number = {9}, pages = {1857-1858}, doi = {10.1016/j.molcel.2021.04.011}, pmid = {33961772}, issn = {1097-4164}, mesh = {Biomedical Research/*history ; Career Choice ; Gene Expression Regulation, Bacterial ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Host Factor 1 Protein/metabolism ; Humans ; Nucleic Acid Conformation ; RNA, Bacterial/genetics/*history/metabolism ; RNA, Small Untranslated/genetics/*history/metabolism ; Structure-Activity Relationship ; }, abstract = {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.}, }
@article {pmid33667390, year = {2021}, author = {Eichler, EE}, title = {2020 William Allan Award introduction: Mary-Claire King.}, journal = {American journal of human genetics}, volume = {108}, number = {3}, pages = {383-385}, pmid = {33667390}, issn = {1537-6605}, mesh = {Awards and Prizes ; Genetics, Medical/*history ; History, 21st Century ; Human Genetics/*history ; Humans ; United States ; }, abstract = {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.}, }
@article {pmid33569656, year = {2021}, author = {Portera, M and Mandrioli, M}, title = {Who's afraid of epigenetics? Habits, instincts, and Charles Darwin's evolutionary theory.}, journal = {History and philosophy of the life sciences}, volume = {43}, number = {1}, pages = {20}, pmid = {33569656}, issn = {1742-6316}, mesh = {*Biological Evolution ; *Epigenesis, Genetic ; Epigenomics/*history ; *Habits ; *Heredity ; History, 19th Century ; *Selection, Genetic ; }, abstract = {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.}, }
@article {pmid33568833, year = {2021}, author = {Powell, K}, title = {The broken promise that undermines human genome research.}, journal = {Nature}, volume = {590}, number = {7845}, pages = {198-201}, pmid = {33568833}, issn = {1476-4687}, mesh = {Cohort Studies ; Databases, Genetic/history/supply &amp; distribution ; Datasets as Topic ; Genetic Predisposition to Disease ; Genetic Privacy ; Genome, Human/*genetics ; Genome-Wide Association Study ; Genomics/history/organization &amp; administration/*trends ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; *Information Dissemination/history ; National Institutes of Health (U.S.) ; Open Access Publishing/history/trends ; Ownership ; Reproducibility of Results ; United States ; }, }
@article {pmid33568832, year = {2021}, author = {}, title = {The next 20 years of human genomics must be more equitable and more open.}, journal = {Nature}, volume = {590}, number = {7845}, pages = {183-184}, doi = {10.1038/d41586-021-00328-0}, pmid = {33568832}, issn = {1476-4687}, mesh = {Continental Population Groups/genetics ; Data Collection/ethics/standards ; Databases, Factual/ethics/standards ; Genetic Privacy/ethics ; *Genetic Variation ; Genetics, Medical/trends ; Genome, Human/*genetics ; Genomics/*ethics/history/*trends ; *Health Equity ; Healthcare Disparities ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; Indigenous Peoples/genetics ; *Information Dissemination/history ; Information Storage and Retrieval ; Informed Consent/ethics ; International Cooperation ; *Open Access Publishing/history ; SARS-CoV-2/genetics ; Time Factors ; }, }
@article {pmid33568828, year = {2021}, author = {Gates, AJ and Gysi, DM and Kellis, M and Barabási, AL}, title = {A wealth of discovery built on the Human Genome Project - by the numbers.}, journal = {Nature}, volume = {590}, number = {7845}, pages = {212-215}, pmid = {33568828}, issn = {1476-4687}, mesh = {DNA, Intergenic/genetics ; Drug Discovery ; Genes/genetics ; Genetic Diseases, Inborn/genetics ; Genetic Predisposition to Disease ; Genetics, Medical/*statistics &amp; numerical data/trends ; Genome, Human/*genetics ; History, 21st Century ; *Human Genome Project/history ; Humans ; Molecular Targeted Therapy ; Polymorphism, Single Nucleotide/genetics ; Proteins/genetics ; }, }
@article {pmid33568827, year = {2021}, author = {Rotimi, CN and Adeyemo, AA}, title = {From one human genome to a complex tapestry of ancestry.}, journal = {Nature}, volume = {590}, number = {7845}, pages = {220-221}, pmid = {33568827}, issn = {1476-4687}, mesh = {Africa/ethnology ; Continental Population Groups/genetics ; Genome, Human/*genetics ; Genome-Wide Association Study ; Genomics/*trends ; Goals ; Haplotypes/genetics ; History, 21st Century ; Human Genome Project/history ; Human Migration ; Humans ; Polymorphism, Single Nucleotide/genetics ; }, }
@article {pmid33568817, year = {2021}, author = {Miga, KH}, title = {Breaking through the unknowns of the human reference genome.}, journal = {Nature}, volume = {590}, number = {7845}, pages = {217-218}, pmid = {33568817}, issn = {1476-4687}, support = {U01 HG010971/HG/NHGRI NIH HHS/United States ; }, mesh = {Chromosomes, Human/genetics ; DNA, Intergenic/genetics ; Euchromatin/genetics ; Genome, Human/*genetics ; Genomics/*standards/*trends ; Haploidy ; History, 21st Century ; Human Genome Project/history ; Humans ; Proteins/genetics ; Reference Standards ; Repetitive Sequences, Nucleic Acid/genetics ; }, }
@article {pmid33542112, year = {2021}, author = {Fraser, CM}, title = {A genome to celebrate.}, journal = {Science (New York, N.Y.)}, volume = {371}, number = {6529}, pages = {545}, doi = {10.1126/science.abg8615}, pmid = {33542112}, issn = {1095-9203}, mesh = {*Genome, Human ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; }, }
@article {pmid33538910, year = {2021}, author = {Grote, M and Onaga, L and Creager, ANH and de Chadarevian, S and Liu, D and Surita, G and Tracy, SE}, title = {The molecular vista: current perspectives on molecules and life in the twentieth century.}, journal = {History and philosophy of the life sciences}, volume = {43}, number = {1}, pages = {16}, pmid = {33538910}, issn = {1742-6316}, mesh = {Cultural Diversity ; *Historiography ; History, 20th Century ; Molecular Biology/*history ; }, abstract = {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.}, }
@article {pmid33393745, year = {2021}, author = {Collins, FS and Doudna, JA and Lander, ES and Rotimi, CN}, title = {Human Molecular Genetics and Genomics - Important Advances and Exciting Possibilities.}, journal = {The New England journal of medicine}, volume = {384}, number = {1}, pages = {1-4}, doi = {10.1056/NEJMp2030694}, pmid = {33393745}, issn = {1533-4406}, mesh = {Clustered Regularly Interspaced Short Palindromic Repeats ; Genetic Diseases, Inborn/diagnosis/therapy ; Genetics, Medical/history ; Genomics/ethics/*history ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; Molecular Biology/*history ; National Academies of Science, Engineering, and Medicine, U.S., Health and Medicine Division/history ; United States ; }, }
@article {pmid33275883, year = {2020}, author = {}, title = {Education, Experience, and Action: An Interview with Dr. Trevor K. Archer.}, journal = {Molecular cell}, volume = {80}, number = {5}, pages = {749-751}, doi = {10.1016/j.molcel.2020.11.018}, pmid = {33275883}, issn = {1097-4164}, mesh = {*Cell Biology/education/history ; *Epigenomics/education/history ; History, 20th Century ; History, 21st Century ; Humans ; National Institutes of Health (U.S.)/*history ; Portraits as Topic ; *Stem Cells ; United States ; }, abstract = {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.}, }
@article {pmid33273116, year = {2020}, author = {Azar, B}, title = {Profile of Haig H. Kazazian Jr.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {117}, number = {51}, pages = {32185-32188}, doi = {10.1073/pnas.2023398117}, pmid = {33273116}, issn = {1091-6490}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; *Interspersed Repetitive Sequences ; United States ; }, }
@article {pmid33257575, year = {2020}, author = {Ravindran, S}, title = {Profile of Se-Jin Lee.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {117}, number = {49}, pages = {30870-30872}, pmid = {33257575}, issn = {1091-6490}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mice ; Myostatin/genetics ; }, }
@article {pmid33248929, year = {2021}, author = {Weake, VM}, title = {Gcn5: The quintessential histone acetyltransferase.}, journal = {Biochimica et biophysica acta. Gene regulatory mechanisms}, volume = {1864}, number = {2}, pages = {194658}, doi = {10.1016/j.bbagrm.2020.194658}, pmid = {33248929}, issn = {1876-4320}, mesh = {Animals ; Biochemistry/history ; Chromatin/metabolism ; Developmental Biology/history ; Drosophila/enzymology/genetics ; Eukaryota/*enzymology/genetics ; Female ; Genetics/history ; Histone Acetyltransferases/*metabolism ; Histones/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Protein Processing, Post-Translational ; Transcriptional Activation/*physiology ; }, }
@article {pmid33241662, year = {2021}, author = {Pierpont, EI and Berry, SA and Lin, AE and Lohr, JL and Schimmenti, LA and Dobyns, WB}, title = {Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020).}, journal = {American journal of medical genetics. Part A}, volume = {185}, number = {2}, pages = {319-323}, doi = {10.1002/ajmg.a.61963}, pmid = {33241662}, issn = {1552-4833}, mesh = {Female ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid33214494, year = {2020}, author = {}, title = {Frans H. J. Claas, PhD, Eurotransplant Reference Laboratory, Department of Immunohaematology and Blood Transfusion, Leiden University Medical Center, Leiden, Netherlands.}, journal = {Transplantation}, volume = {104}, number = {12}, pages = {2461-2463}, doi = {10.1097/TP.0000000000003392}, pmid = {33214494}, issn = {1534-6080}, mesh = {Biomedical Research/*history ; Career Choice ; Histocompatibility Testing/*history ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; Organ Transplantation/*history ; }, }
@article {pmid33185114, year = {2021}, author = {Lee, SH and Kim, DH and Kuzmanov, U and Gramolini, AO}, title = {Membrane proteomic profiling of the heart: past, present, and future.}, journal = {American journal of physiology. Heart and circulatory physiology}, volume = {320}, number = {1}, pages = {H417-H423}, doi = {10.1152/ajpheart.00659.2020}, pmid = {33185114}, issn = {1522-1539}, support = {GPG-102166//CIHR/Canada ; MOP-123320//CIHR/Canada ; }, mesh = {Animals ; Cell Membrane/*metabolism ; Diffusion of Innovation ; Forecasting ; Heart Diseases/*metabolism/pathology ; History, 20th Century ; History, 21st Century ; Humans ; Membrane Proteins/*metabolism ; Myocytes, Cardiac/*metabolism/pathology ; *Proteomics/history/trends ; }, abstract = {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.}, }
@article {pmid33168721, year = {2020}, author = {Viegas, J}, title = {Profile of Masayori Inouye.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {117}, number = {46}, pages = {28543-28545}, pmid = {33168721}, issn = {1091-6490}, mesh = {Biochemistry/*history ; Evolution, Molecular ; Genetic Code ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA, Antisense ; }, }
@article {pmid33122373, year = {2020}, author = {Verdin, E}, title = {Paolo Sassone-Corsi (1956-2020).}, journal = {Science (New York, N.Y.)}, volume = {370}, number = {6516}, pages = {532}, doi = {10.1126/science.abe9149}, pmid = {33122373}, issn = {1095-9203}, mesh = {Epigenomics/*history ; History, 20th Century ; History, 21st Century ; Italy ; Molecular Biology/*history ; United States ; }, }
@article {pmid33087271, year = {2020}, author = {Van Houten, B}, title = {Graphical snapshot of Samuel H. Wilson.}, journal = {DNA repair}, volume = {93}, number = {}, pages = {102934}, doi = {10.1016/j.dnarep.2020.102934}, pmid = {33087271}, issn = {1568-7856}, mesh = {Animals ; Biochemistry/*history ; Crystallography, X-Ray ; DNA/metabolism ; *DNA Damage ; DNA Polymerase beta/metabolism ; *DNA Repair ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; United States ; }, }
@article {pmid33087270, year = {2020}, author = {Hanawalt, PC}, title = {Tribute to Sam Wilson: Shining a light on base excision DNA repair.}, journal = {DNA repair}, volume = {93}, number = {}, pages = {102933}, doi = {10.1016/j.dnarep.2020.102933}, pmid = {33087270}, issn = {1568-7856}, mesh = {Animals ; Biochemistry/*history ; Crystallography, X-Ray ; DNA/metabolism ; *DNA Damage ; DNA Polymerase beta/metabolism ; *DNA Repair ; DNA-Directed DNA Polymerase/*metabolism ; Gene-Environment Interaction ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; United States ; }, }
@article {pmid33067556, year = {2020}, author = {Zvénigorosky, V and Duchesne, S and Romanova, L and Gérard, P and Petit, C and Petit, M and Alexeev, A and Melnichuk, O and Gonzalez, A and Fausser, JL and Solovyev, A and Romanov, G and Barashkov, N and Fedorova, S and Ludes, B and Crubézy, E and Keyser, C}, title = {The genetic legacy of legendary and historical Siberian chieftains.}, journal = {Communications biology}, volume = {3}, number = {1}, pages = {581}, pmid = {33067556}, issn = {2399-3642}, mesh = {*Archaeology/history/methods ; Chromosomes, Human, Y ; Databases, Genetic ; Genetic Linkage ; Genetic Variation ; *Genetics, Population/history/methods ; Geography ; Haplotypes ; History, 17th Century ; History, 18th Century ; Humans ; Male ; Siberia/ethnology ; }, abstract = {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.}, }
@article {pmid33066397, year = {2020}, author = {Peixoto, P and Cartron, PF and Serandour, AA and Hervouet, E}, title = {From 1957 to Nowadays: A Brief History of Epigenetics.}, journal = {International journal of molecular sciences}, volume = {21}, number = {20}, pages = {}, pmid = {33066397}, issn = {1422-0067}, mesh = {Animals ; DNA Methylation ; *Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Protein Processing, Post-Translational ; }, abstract = {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.}, }
@article {pmid33050848, year = {2020}, author = {Letarov, AV}, title = {History of Early Bacteriophage Research and Emergence of Key Concepts in Virology.}, journal = {Biochemistry. Biokhimiia}, volume = {85}, number = {9}, pages = {1093-1010}, doi = {10.1134/S0006297920090096}, pmid = {33050848}, issn = {1608-3040}, mesh = {*Anti-Bacterial Agents ; Bacterial Infections/*therapy/virology ; Bacteriophages/*physiology ; Biomedical Research/*history ; History, 19th Century ; History, 20th Century ; Humans ; Lysogeny ; Molecular Biology/*history ; Phage Therapy/*methods ; Virology/*history ; }, abstract = {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.}, }
@article {pmid33007197, year = {2020}, author = {Ragsdale, AP and Nelson, D and Gravel, S and Kelleher, J}, title = {Lessons Learned from Bugs in Models of Human History.}, journal = {American journal of human genetics}, volume = {107}, number = {4}, pages = {583-588}, pmid = {33007197}, issn = {1537-6605}, support = {MOP 136855//CIHR/Canada ; }, mesh = {Algorithms ; Computer Simulation ; Demography ; Genetic Variation ; Genetics, Population/history/*trends ; *Genome, Human ; History, Ancient ; Human Migration/history/statistics &amp; numerical data ; Humans ; *Models, Genetic ; *Software ; }, abstract = {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.}, }
@article {pmid32950123, year = {2020}, author = {Turda, M}, title = {Subversive affinities: Embracing soviet science in late 1940s Romania.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {83}, number = {}, pages = {101131}, doi = {10.1016/j.shpsc.2018.04.004}, pmid = {32950123}, issn = {1879-2499}, mesh = {Biology/*history/organization &amp; administration/standards ; Communism ; Genetics/history/organization &amp; administration/standards ; History, 20th Century ; Romania ; Science/*history/organization &amp; administration/standards ; USSR ; }, abstract = {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.}, }
@article {pmid32929272, year = {2020}, author = {}, title = {Marking a milestone.}, journal = {Nature reviews. Genetics}, volume = {21}, number = {10}, pages = {573}, pmid = {32929272}, issn = {1471-0064}, mesh = {Anniversaries and Special Events ; Genetics/*history ; History, 21st Century ; Humans ; Periodicals as Topic/*history ; Publishing/*history ; }, }
@article {pmid32928368, year = {2020}, author = {Josephy, D}, title = {A tribute to Prof. Bruce Ames.}, journal = {Mutation research}, volume = {856-857}, number = {}, pages = {503221}, doi = {10.1016/j.mrgentox.2020.503221}, pmid = {32928368}, issn = {1873-135X}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; Mutagenicity Tests/*history ; }, }
@article {pmid32821056, year = {2020}, author = {Moreau-Gachelin, F and Camonis, J and de Gunzburg, J and Goud, B}, title = {[Armand Tavitian (1931-2020): from oncogenes to the Ras superfamily].}, journal = {Medecine sciences : M/S}, volume = {36}, number = {8-9}, pages = {810-812}, doi = {10.1051/medsci/2020136}, pmid = {32821056}, issn = {1958-5381}, mesh = {*Biomedical Research/history ; France ; *Genes, ras ; Hematologic Neoplasms/genetics/pathology ; History, 20th Century ; History, 21st Century ; Humans ; Medical Laboratory Personnel ; *Medical Oncology/history ; Molecular Biology/history ; Multigene Family ; *Oncogenes ; *Physicians ; }, }
@article {pmid32800160, year = {2020}, author = {Bruckner-Tuderman, L}, title = {ESDR around the Millennium Change.}, journal = {The Journal of investigative dermatology}, volume = {140}, number = {9S}, pages = {S158-S159}, doi = {10.1016/j.jid.2020.03.956}, pmid = {32800160}, issn = {1523-1747}, mesh = {Artificial Intelligence/trends ; Big Data ; Biomedical Research/history/organization &amp; administration/*trends ; Cultural Diversity ; Dermatologists/history/organization &amp; administration/trends ; Dermatology/history/organization &amp; administration/*trends ; Europe ; Female ; History, 20th Century ; History, 21st Century ; Humans ; International Cooperation/history ; Leadership ; Molecular Biology/history ; Physicians, Women/history/organization &amp; administration/trends ; Skin Diseases/genetics ; Societies, Scientific/history/organization &amp; administration/*trends ; }, }
@article {pmid32798645, year = {2020}, author = {Lodish, HF}, title = {Over 60 Years of Experimental Hematology (without a License).}, journal = {Experimental hematology}, volume = {89}, number = {}, pages = {1-12}, doi = {10.1016/j.exphem.2020.08.005}, pmid = {32798645}, issn = {1873-2399}, mesh = {Cloning, Molecular ; Erythrocytes/metabolism/pathology ; Erythroid Precursor Cells/cytology/*metabolism ; Erythropoiesis/genetics ; Gene Expression ; Hematology/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Receptors, Erythropoietin/genetics/*history/metabolism ; Recombinant Proteins/genetics/metabolism ; alpha-Globins/genetics/metabolism ; beta-Globins/genetics/metabolism ; beta-Thalassemia/*genetics/metabolism/pathology ; }, abstract = {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.}, }
@article {pmid32768267, year = {2020}, author = {Guffroy, A and Martin, T and Gies, V}, title = {.}, journal = {La Revue de medecine interne}, volume = {41}, number = {10}, pages = {649-652}, doi = {10.1016/j.revmed.2020.07.005}, pmid = {32768267}, issn = {1768-3122}, mesh = {Autoimmune Diseases/genetics/*therapy ; Autoimmunity/*physiology ; Genetic Predisposition to Disease ; Genomics/history/methods/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Inventions/history/trends ; Metabolomics/history/methods/trends ; Molecular Targeted Therapy/history/methods/trends ; *Precision Medicine/adverse effects/history/methods/trends ; }, }
@article {pmid32745952, year = {2020}, author = {Mathieson, I}, title = {Human adaptation over the past 40,000 years.}, journal = {Current opinion in genetics &amp; development}, volume = {62}, number = {}, pages = {97-104}, pmid = {32745952}, issn = {1879-0380}, support = {R35 GM133708/GM/NIGMS NIH HHS/United States ; }, mesh = {*Adaptation, Physiological ; DNA, Ancient/*analysis ; *Evolution, Molecular ; Genomics/*history ; History, Ancient ; Humans ; *Multifactorial Inheritance ; Phenotype ; *Selection, Genetic ; }, abstract = {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.}, }
@article {pmid32734383, year = {2021}, author = {Keyser, C and Zvénigorosky, V and Gonzalez, A and Fausser, JL and Jagorel, F and Gérard, P and Tsagaan, T and Duchesne, S and Crubézy, E and Ludes, B}, title = {Genetic evidence suggests a sense of family, parity and conquest in the Xiongnu Iron Age nomads of Mongolia.}, journal = {Human genetics}, volume = {140}, number = {2}, pages = {349-359}, pmid = {32734383}, issn = {1432-1203}, mesh = {Adult ; Asian Continental Ancestry Group/*genetics/history ; Body Remains ; Cemeteries/history ; Child ; Chromosomes, Human, Y/genetics ; DNA, Mitochondrial/genetics/history ; Family/history ; Female ; Genetic Markers/genetics ; Genetics, Population/history ; Genome, Human/*genetics ; Genome, Mitochondrial/genetics ; Haplotypes/genetics ; History, Ancient ; Humans ; Male ; Mongolia ; Parity/*genetics ; Pregnancy ; Transients and Migrants/history ; }, abstract = {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.}, }
@article {pmid32730810, year = {2020}, author = {Cramer, P}, title = {Rosalind Franklin and the Advent of Molecular Biology.}, journal = {Cell}, volume = {182}, number = {4}, pages = {787-789}, doi = {10.1016/j.cell.2020.07.028}, pmid = {32730810}, issn = {1097-4172}, mesh = {Biographies as Topic ; DNA/chemistry ; History, 20th Century ; Molecular Biology/*history ; RNA/chemistry ; Viruses/chemistry ; X-Ray Diffraction ; }, abstract = {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.}, }
@article {pmid32691531, year = {2020}, author = {Mazzeu, JF and Brunner, HG}, title = {50 years of Robinow syndrome.}, journal = {American journal of medical genetics. Part A}, volume = {182}, number = {9}, pages = {2005-2007}, doi = {10.1002/ajmg.a.61756}, pmid = {32691531}, issn = {1552-4833}, mesh = {Craniofacial Abnormalities/epidemiology/*genetics ; Dwarfism/epidemiology/*genetics ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Limb Deformities, Congenital/epidemiology/*genetics ; Urogenital Abnormalities/epidemiology/*genetics ; }, }
@article {pmid32638693, year = {2020}, author = {Evans, D and Medland, SE and Gillespie, N}, title = {Editorial.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {67}, doi = {10.1017/thg.2020.45}, pmid = {32638693}, issn = {1832-4274}, mesh = {History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Twin Studies as Topic/*history ; }, }
@article {pmid32638691, year = {2020}, author = {Eaves, L}, title = {Birmingham and Beyond.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {68-71}, doi = {10.1017/thg.2020.27}, pmid = {32638691}, issn = {1832-4274}, mesh = {Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Models, Genetic ; Twin Studies as Topic/history ; Twins/*genetics ; }, abstract = {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.}, }
@article {pmid32638684, year = {2020}, author = {Sham, PC and Purcell, SM and Cherny, SS and Neale, MC and Neale, BM}, title = {Statistical Power and the Classical Twin Design.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {87-89}, doi = {10.1017/thg.2020.46}, pmid = {32638684}, issn = {1832-4274}, mesh = {Genetics, Behavioral/*history/statistics &amp; numerical data ; History, 20th Century ; History, 21st Century ; Humans ; Sample Size ; Twin Studies as Topic/*history/statistics &amp; numerical data ; Twins/*genetics/statistics &amp; numerical data ; }, abstract = {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.}, }
@article {pmid32620538, year = {2020}, author = {Tomáška, Ľ and Cesare, AJ and AlTurki, TM and Griffith, JD}, title = {Twenty years of t-loops: A case study for the importance of collaboration in molecular biology.}, journal = {DNA repair}, volume = {94}, number = {}, pages = {102901}, doi = {10.1016/j.dnarep.2020.102901}, pmid = {32620538}, issn = {1568-7856}, support = {R01 ES013773/ES/NIEHS NIH HHS/United States ; }, mesh = {Animals ; DNA Breaks, Double-Stranded ; *DNA Repair ; *DNA Replication ; DNA, Circular/*metabolism/ultrastructure ; DNA-Binding Proteins/metabolism ; Eukaryota/genetics/metabolism/ultrastructure ; History, 21st Century ; *Homologous Recombination ; Humans ; Microscopy/history ; Molecular Biology/history ; Muscle Proteins/metabolism ; Single Molecule Imaging/*history ; Telomere/*metabolism/ultrastructure ; Telomeric Repeat Binding Protein 2/metabolism ; Transcription Factors/metabolism ; Transcription, Genetic ; }, abstract = {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.}, }
@article {pmid32618635, year = {2020}, author = {Rahman, AH and Homann, D}, title = {Mass cytometry and type 1 diabetes research in the age of single-cell data science.}, journal = {Current opinion in endocrinology, diabetes, and obesity}, volume = {27}, number = {4}, pages = {231-239}, pmid = {32618635}, issn = {1752-2978}, support = {P30 DK020541/DK/NIDDK NIH HHS/United States ; P30 DK020593/DK/NIDDK NIH HHS/United States ; U01 DK123716/DK/NIDDK NIH HHS/United States ; UC4 DK116284/DK/NIDDK NIH HHS/United States ; }, mesh = {Animals ; Biomedical Research/history/methods/*trends ; Data Science/history/methods/*trends ; Diabetes Mellitus, Type 1/*etiology/pathology ; Flow Cytometry/history/methods/trends ; History, 21st Century ; Humans ; Mass Spectrometry/history/methods/trends ; Proteomics/history/*methods/trends ; Single-Cell Analysis/history/methods/*trends ; }, abstract = {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.<br><br>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.<br><br>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.}, }
@article {pmid32614323, year = {2020}, author = {Jordan, B}, title = {[Junk DNA is out of fashion].}, journal = {Medecine sciences : M/S}, volume = {36}, number = {6-7}, pages = {675-677}, doi = {10.1051/medsci/2020108}, pmid = {32614323}, issn = {1958-5381}, mesh = {Amino Acid Sequence ; Base Sequence ; DNA, Intergenic/*physiology ; Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history/methods/*trends ; Open Reading Frames/genetics ; RNA, Messenger/genetics ; }, abstract = {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.}, }
@article {pmid32577013, year = {2020}, author = {, }, title = {ImmGen at 15.}, journal = {Nature immunology}, volume = {21}, number = {7}, pages = {700-703}, pmid = {32577013}, issn = {1529-2916}, support = {R01 HL138466/HL/NHLBI NIH HHS/United States ; R24 AI072073/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; Gene Expression Regulation/*immunology ; Gene Regulatory Networks/*immunology ; Genomics/*history/methods ; History, 21st Century ; Immune System ; Immunologic Techniques/*history/methods ; Mice/genetics/*immunology ; }, }
@article {pmid32548727, year = {2020}, author = {Konashev, M}, title = {Soviet genetics and the communist party: was it all bad and wrong, or none at all?.}, journal = {History and philosophy of the life sciences}, volume = {42}, number = {2}, pages = {27}, doi = {10.1007/s40656-020-00323-0}, pmid = {32548727}, issn = {1742-6316}, mesh = {Communism/*history ; Genetics/*history ; History, 20th Century ; USSR ; }, abstract = {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.}, }
@article {pmid32546820, year = {2020}, author = {Yunusbaev, U and Ionusbaev, A and Han, G and Kwon, HW}, title = {Recent effective population size in Eastern European plain Russians correlates with the key historical events.}, journal = {Scientific reports}, volume = {10}, number = {1}, pages = {9729}, pmid = {32546820}, issn = {2045-2322}, mesh = {Databases, Genetic ; Ethnic Groups/*genetics/history ; Europe, Eastern ; Genetics, Population/*history/methods ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, Ancient ; History, Medieval ; Humans ; Polymorphism, Genetic/genetics ; *Population Density ; Russia ; }, abstract = {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.}, }
@article {pmid32545927, year = {2020}, author = {Pederson, T}, title = {The 50th anniversary of reverse transcriptase-and its ironic legacy in the time of coronavirus.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {34}, number = {6}, pages = {7219-7221}, doi = {10.1096/fj.202001010}, pmid = {32545927}, issn = {1530-6860}, mesh = {Betacoronavirus/*genetics/physiology ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA-Directed DNA Polymerase/*metabolism ; Reverse Transcriptase Polymerase Chain Reaction/history ; SARS-CoV-2 ; United States ; Virus Replication ; }, }
@article {pmid32541046, year = {2020}, author = {Ravindran, S}, title = {Profile of Christopher A. Walsh.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {117}, number = {25}, pages = {13861-13863}, pmid = {32541046}, issn = {1091-6490}, mesh = {Awards and Prizes ; Genetics/history ; History, 20th Century ; History, 21st Century ; National Academy of Sciences, U.S. ; Neurology/*history ; Neurosciences/*history ; United States ; }, }
@article {pmid32524311, year = {2020}, author = {Veigl, SJ and Harman, O and Lamm, E}, title = {Friedrich Miescher's Discovery in the Historiography of Genetics: From Contamination to Confusion, from Nuclein to DNA.}, journal = {Journal of the history of biology}, volume = {53}, number = {3}, pages = {451-484}, doi = {10.1007/s10739-020-09608-3}, pmid = {32524311}, issn = {1573-0387}, support = {1128/15//Israel Science Foundation/International ; W 1228-G18//Austrian Science Fund/International ; }, mesh = {Chemistry/history ; Chromatin/isolation &amp; purification ; DNA/*history/isolation &amp; purification ; Genetics/*history ; *Historiography ; History, 19th Century ; Humans ; Interprofessional Relations ; Molecular Biology/*history ; Suppuration/history ; Switzerland ; }, abstract = {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.}, }
@article {pmid32492404, year = {2020}, author = {Anava, S and Neuhof, M and Gingold, H and Sagy, O and Munters, A and Svensson, EM and Afshinnekoo, E and Danko, D and Foox, J and Shor, P and Riestra, B and Huchon, D and Mason, CE and Mizrahi, N and Jakobsson, M and Rechavi, O}, title = {Illuminating Genetic Mysteries of the Dead Sea Scrolls.}, journal = {Cell}, volume = {181}, number = {6}, pages = {1218-1231.e27}, doi = {10.1016/j.cell.2020.04.046}, pmid = {32492404}, issn = {1097-4172}, mesh = {Animals ; Base Sequence/*genetics ; Christianity/history ; Genetics/*history ; History, Ancient ; Humans ; Israel ; Judaism/history ; Skin/*metabolism ; }, abstract = {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.}, }
@article {pmid32487691, year = {2020}, author = {Lamm, E and Harman, O and Veigl, SJ}, title = {Before Watson and Crick in 1953 Came Friedrich Miescher in 1869.}, journal = {Genetics}, volume = {215}, number = {2}, pages = {291-296}, pmid = {32487691}, issn = {1943-2631}, mesh = {DNA/*genetics/*history ; *Genetic Code ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, abstract = {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.}, }
@article {pmid32487690, year = {2020}, author = {Bassler, BL}, title = {From Biochemistry to Genetics in a Flash of Light.}, journal = {Genetics}, volume = {215}, number = {2}, pages = {287-289}, pmid = {32487690}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Biochemistry/*history ; Female ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Societies, Scientific ; }, abstract = {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.}, }
@article {pmid32482201, year = {2020}, author = {Bulik, C and Kennedy, M and Wade, T}, title = {ANGI - Anorexia Nervosa Genetics Initiative.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {135-136}, doi = {10.1017/thg.2020.24}, pmid = {32482201}, issn = {1832-4274}, mesh = {Anorexia Nervosa/*genetics/history ; Body Mass Index ; Feeding and Eating Disorders/*genetics/history ; Female ; Genetics, Behavioral/*history ; Genome-Wide Association Study/history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {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.}, }
@article {pmid32482197, year = {2020}, author = {Colodro-Conde, L and Couvy-Duchesne, B}, title = {Nick Martin's Contribution to GxE Research.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {131-134}, doi = {10.1017/thg.2020.35}, pmid = {32482197}, issn = {1832-4274}, mesh = {Depression/*genetics/history ; *Gene-Environment Interaction ; Genetic Predisposition to Disease/*genetics/history ; Genotype ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; }, abstract = {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.}, }
@article {pmid32482192, year = {2020}, author = {Verhulst, B}, title = {Sociopolitical Attitudes Through the Lens of Behavioral Genetics: Contributions from Dr Nicholas Martin.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {125-126}, doi = {10.1017/thg.2020.30}, pmid = {32482192}, issn = {1832-4274}, mesh = {*Gene-Environment Interaction ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Genetic ; Personality/*genetics ; Politics ; Social Sciences/*history ; }, abstract = {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.}, }
@article {pmid32482185, year = {2020}, author = {Martin, HC}, title = {Nature via Nurture, the Martin Way.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {137-138}, doi = {10.1017/thg.2020.40}, pmid = {32482185}, issn = {1832-4274}, mesh = {Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Humans ; Social Behavior/*history ; }, abstract = {I recount early formative experiences with my father, Nick Martin.}, }
@article {pmid32470374, year = {2020}, author = {Haber, M and Nassar, J and Almarri, MA and Saupe, T and Saag, L and Griffith, SJ and Doumet-Serhal, C and Chanteau, J and Saghieh-Beydoun, M and Xue, Y and Scheib, CL and Tyler-Smith, C}, title = {A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years.}, journal = {American journal of human genetics}, volume = {107}, number = {1}, pages = {149-157}, pmid = {32470374}, issn = {1537-6605}, support = {/WT_/Wellcome Trust/United Kingdom ; }, mesh = {DNA/*genetics ; Egypt ; Ethnic Groups/genetics/history ; Genetics, Population/*history ; Genome, Human/genetics ; Haplotypes/genetics ; History, Ancient ; Human Migration/history ; Humans ; Middle East ; }, abstract = {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.}, }
@article {pmid32438933, year = {2020}, author = {Kendler, K}, title = {Recollections of Nick Martin: 1983-1986.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {82-83}, doi = {10.1017/thg.2020.29}, pmid = {32438933}, issn = {1832-4274}, mesh = {Genetic Predisposition to Disease/*history ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Mental Disorders/*genetics/history ; }, abstract = {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.}, }
@article {pmid32437372, year = {2020}, author = {Hermes, TR and Frachetti, MD and Voyakin, D and Yerlomaeva, AS and Beisenov, AZ and Doumani Dupuy, PN and Papin, DV and Motuzaite Matuzeviciute, G and Bayarsaikhan, J and Houle, JL and Tishkin, AA and Nebel, A and Krause-Kyora, B and Makarewicz, CA}, title = {High mitochondrial diversity of domesticated goats persisted among Bronze and Iron Age pastoralists in the Inner Asian Mountain Corridor.}, journal = {PloS one}, volume = {15}, number = {5}, pages = {e0233333}, pmid = {32437372}, issn = {1932-6203}, mesh = {Agriculture/history ; Animals ; Animals, Domestic/*genetics ; Animals, Wild/genetics ; Asia ; Cytochromes b/genetics ; DNA, Mitochondrial/*genetics ; *Domestication ; Ecosystem ; Genetic Variation ; Genetics, Population/history ; Goats/*genetics ; Haplotypes ; History, Ancient ; Middle East ; Phylogeny ; Phylogeography ; }, abstract = {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.}, }
@article {pmid32434608, year = {2020}, author = {Keller, MC}, title = {Nick Martin as a Mentor - A Perspective.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {112-113}, doi = {10.1017/thg.2020.39}, pmid = {32434608}, issn = {1832-4274}, mesh = {Genetics, Behavioral/*education/history ; History, 20th Century ; History, 21st Century ; Humans ; Mentors/*education ; }, abstract = {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.}, }
@article {pmid32423524, year = {2020}, author = {Yang, J}, title = {The SNP-Based Heritability - A Commentary on Yang et al. (2010).}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {118-119}, doi = {10.1017/thg.2020.25}, pmid = {32423524}, issn = {1832-4274}, mesh = {*Genetic Predisposition to Disease ; Genome-Wide Association Study/history ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/trends ; Humans ; Models, Genetic ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait, Heritable ; }, abstract = {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.}, }
@article {pmid32423517, year = {2020}, author = {Hewitt, JK}, title = {Nick Martin and the 'Boulder Workshops'.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {80-81}, doi = {10.1017/thg.2020.32}, pmid = {32423517}, issn = {1832-4274}, mesh = {Genetics, Behavioral/*history/statistics &amp; numerical data ; History, 20th Century ; History, 21st Century ; Humans ; *Multivariate Analysis ; }, abstract = {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.}, }
@article {pmid32423498, year = {2020}, author = {Nyholt, DR}, title = {Migraine, Human Genetics and a Passion for Science.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {105-106}, doi = {10.1017/thg.2020.22}, pmid = {32423498}, issn = {1832-4274}, mesh = {*Genetic Predisposition to Disease ; Genome-Wide Association Study/history ; History, 20th Century ; History, 21st Century ; Human Genetics/history ; Humans ; Migraine Disorders/*genetics/history ; Phenotype ; }, abstract = {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].}, }
@article {pmid32423493, year = {2020}, author = {Hatemi, P}, title = {The Barbarians Are at the Gate!.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {23}, number = {2}, pages = {120-122}, doi = {10.1017/thg.2020.20}, pmid = {32423493}, issn = {1832-4274}, mesh = {Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Theoretical ; Political Systems/*history ; Social Sciences/*history ; }, abstract = {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.}, }
@article {pmid32354350, year = {2020}, author = {Nekrutenko, A and Schatz, MC}, title = {In memory of James Taylor: the birth of Galaxy.}, journal = {Genome biology}, volume = {21}, number = {1}, pages = {105}, pmid = {32354350}, issn = {1474-760X}, support = {U24 HG006620/HG/NHGRI NIH HHS/United States ; U41 HG006620/HG/NHGRI NIH HHS/United States ; }, mesh = {Genomics/*history ; History, 21st Century ; United States ; }, }
@article {pmid32313080, year = {2020}, author = {Furtwängler, A and Rohrlach, AB and Lamnidis, TC and Papac, L and Neumann, GU and Siebke, I and Reiter, E and Steuri, N and Hald, J and Denaire, A and Schnitzler, B and Wahl, J and Ramstein, M and Schuenemann, VJ and Stockhammer, PW and Hafner, A and Lösch, S and Haak, W and Schiffels, S and Krause, J}, title = {Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland.}, journal = {Nature communications}, volume = {11}, number = {1}, pages = {1915}, pmid = {32313080}, issn = {2041-1723}, mesh = {Archaeology ; *DNA, Ancient ; DNA, Mitochondrial/genetics ; Europe ; European Continental Ancestry Group/genetics ; *Evolution, Molecular ; France ; Genetics, Population/*history ; Genome, Human/*genetics ; Germany ; History, Ancient ; Humans ; Switzerland ; }, abstract = {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.}, }
@article {pmid32291354, year = {2020}, author = {Ogbunugafor, CB}, title = {A Reflection on 50 Years of John Maynard Smith's "Protein Space".}, journal = {Genetics}, volume = {214}, number = {4}, pages = {749-754}, pmid = {32291354}, issn = {1943-2631}, mesh = {*Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Proteins/chemistry/*genetics ; }, abstract = {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.}, }
@article {pmid32277446, year = {2020}, author = {Rustgi, S and Skadhauge, B}, title = {Diter von Wettstein, Professor of Genetics and Master of Translating Science into Applications.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {2124}, number = {}, pages = {3-18}, doi = {10.1007/978-1-0716-0356-7_1}, pmid = {32277446}, issn = {1940-6029}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Plant Breeding ; Plants, Genetically Modified ; Research ; *Translational Medical Research ; }, abstract = {The present and subsequent chapters in this volume are dedicated to the life and research of Professor Diter von Wettstein who contributed immensely to the development of science and education. His contributions spanned various fields of science such as genetics, physiology, ultrastructural analysis, molecular biology, genomics, and biotechnology including genome editing. He performed and promoted pioneering research in the fields of epigenetics, directed evolution of enzymes, synthetic biology (promoter and gene optimizations), and genomics (genome sequencing of baker's yeast). Glimpses of his time at the Carlsberg Laboratory and Washington State University, with examples from the research performed at these institutions, are included in this chapter. His life is an inspiration to the next generation of biologists. Despite difficult situations, his persistent efforts and keen desire to learn enabled him to overcome obstacles. He always tried to attain the best, excelling in translating fundamental knowledge into applications.}, }
@article {pmid32265525, year = {2020}, author = {Frantz, LAF and Bradley, DG and Larson, G and Orlando, L}, title = {Animal domestication in the era of ancient genomics.}, journal = {Nature reviews. Genetics}, volume = {21}, number = {8}, pages = {449-460}, pmid = {32265525}, issn = {1471-0064}, support = {210119/Z/18/Z/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Animal Husbandry ; Animals ; *Animals, Wild ; DNA, Ancient ; DNA, Mitochondrial ; *Domestication ; Founder Effect ; *Genomics/history/methods ; History, Ancient ; Models, Theoretical ; Selection, Genetic ; Spatio-Temporal Analysis ; }, abstract = {The domestication of animals led to a major shift in human subsistence patterns, from a hunter-gatherer to a sedentary agricultural lifestyle, which ultimately resulted in the development of complex societies. Over the past 15,000 years, the phenotype and genotype of multiple animal species, such as dogs, pigs, sheep, goats, cattle and horses, have been substantially altered during their adaptation to the human niche. Recent methodological innovations, such as improved ancient DNA extraction methods and next-generation sequencing, have enabled the sequencing of whole ancient genomes. These genomes have helped reconstruct the process by which animals entered into domestic relationships with humans and were subjected to novel selection pressures. Here, we discuss and update key concepts in animal domestication in light of recent contributions from ancient genomics.}, }
@article {pmid32233838, year = {2020}, author = {Wolf, R and Heisenberg, M and Brembs, B and Waddell, S and Mishra, A and Kehrer, A and Simenson, A}, title = {Memory, anticipation, action - working with Troy D. Zars.}, journal = {Journal of neurogenetics}, volume = {34}, number = {1}, pages = {9-20}, doi = {10.1080/01677063.2020.1715976}, pmid = {32233838}, issn = {1563-5260}, mesh = {Animals ; Anticipation, Psychological/physiology ; Drosophila melanogaster/physiology ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Learning/physiology ; Memory/physiology ; Mentors ; Neurology/*history ; }, abstract = {We present here our reflections on the scientific work of the late Troy D. Zars (1967 - 2018), on what it was like to work with him, and what it means to us. A common theme running through his work is that memory systems are not for replaying the past. Rather, they are forward-looking systems, providing whatever guidance past experience has to offer for anticipating the outcome of future actions. And in situations where no such guidance is available trying things out is the best option. Working with Troy was inspiring precisely because of the optimism inherent in this concept and that he himself embodied. Our reflections highlight what this means to us as his former mentors, colleagues, and mentees, respectively, and what it might mean for the future of neurogenetics.}, }
@article {pmid32233836, year = {2020}, author = {Gerber, B and King, EG and Sitaraman, D}, title = {A biographical sketch of Troy D. Zars (1967-2018).}, journal = {Journal of neurogenetics}, volume = {34}, number = {1}, pages = {2-4}, doi = {10.1080/01677063.2020.1716749}, pmid = {32233836}, issn = {1563-5260}, mesh = {Animals ; Behavior/physiology ; Brain/physiology ; Drosophila melanogaster ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Neurology/*history ; }, abstract = {Troy D. Zars (1967-2018) was an American biologist. He studied the relationships between genes, neuronal circuits and behavior in the fruit fly Drosophila melanogaster. Zars co-pioneered the use of transgene expression to locally restore gene function in memory-defective fly mutants, an approach that provided breakthrough insights into the localization of memory traces in the fly brain. With ensuing refinements of the methods of transgene expression and the broadening in the range of transgenes to be expressed, this shaped the field of modern behavioral neurogenetics.}, }
@article {pmid32205426, year = {2020}, author = {Davis, TH}, title = {QnAs with Jens Nielsen.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {117}, number = {14}, pages = {7548-7549}, pmid = {32205426}, issn = {1091-6490}, mesh = {Cell Cycle ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Saccharomyces cerevisiae/cytology/metabolism ; }, }
@article {pmid32199506, year = {2020}, author = {Kirby, T}, title = {Barbara Franke-unravelling ADHD's biology.}, journal = {The lancet. Psychiatry}, volume = {7}, number = {4}, pages = {310}, doi = {10.1016/S2215-0366(20)30104-8}, pmid = {32199506}, issn = {2215-0374}, mesh = {Attention Deficit Disorder with Hyperactivity/*genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Netherlands ; Psychiatry/*history ; }, }
@article {pmid32187712, year = {2020}, author = {Li Wan Po, A}, title = {Genomic research delivering on promises: From rejuvenation to vaccines and pharmacogenetics.}, journal = {Journal of clinical pharmacy and therapeutics}, volume = {45}, number = {3}, pages = {585-589}, pmid = {32187712}, issn = {1365-2710}, mesh = {Europe ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Pharmacogenetics/*history ; }, abstract = {WHAT IS KNOWN AND OBJECTIVE: There has been astounding progress made in the treatment of disease over recent years. This progress is particularly marked in cell therapy and in the personalization of therapy based on genetic insight, an approach known as genomic medicine. Our objective is to comment on the progress made in cell and genomic medicine against an historical backcloth of the search for rejuvenation.<br><br>COMMENT: In 1741, close to seven decades after Antoine van Leeuwenhoek first saw his microscopic animalcules, Abraham Trembley, a tutor in Leiden, reported on an organism that could regenerate itself. The strange organism was thought to hold the secret of life. If it does, we have yet to prise the secret out. However, the ensuing study of cell programming and induced stem cells has shed considerable light on cellular development and provided new insights on the rejuvenative capacity of organisms. Inventive scientists have provided a deeper understanding of cell replication and, from this, developed new medicines for an increasing range of diseases. Targeted therapies, oligonucleotide therapy, therapeutic monoclonal antibodies and pharmacogenetics are all new therapeutic areas originating from the improved insights. More will surely follow.<br><br>WHAT IS NEW AND CONCLUSION: Immortality is for the gods, but man's search for its elusive secrets, perhaps as old as man himself, will continue. Huge leaps have been made, and effective medicines have been developed from our improved insights into the mechanism of life. However, only the foolish will predict how far this new knowledge will lead us, and more particularly, at what speed new therapies will follow.}, }
@article {pmid32186642, year = {2019}, author = {Miranda C, M and Alamos, MF}, title = {[The influence of medicine in Emile Zola's "Fortune of the Rougon-Macquart"].}, journal = {Revista medica de Chile}, volume = {147}, number = {10}, pages = {1329-1334}, doi = {10.4067/s0034-98872019001001329}, pmid = {32186642}, issn = {0717-6163}, mesh = {France ; Genetic Diseases, Inborn/history ; Genetics/history ; History, 19th Century ; History, 20th Century ; Medicine in Literature/*history ; }, abstract = {Emile Zola is one of the greatest writers in universal literature. In his important series of novels called "The Fortune of the Rougon-Macquart", Zola shows a surprising medical knowledge even though he did not have a formal medical education. We highlight not only his outstanding literary talent, but also the scientific relevance of the tremendous contribution to the medical field that can be extracted from his work. In this series, which describe the history of five generations within a large family suffering from neuropsychiatric and general pathologies, Zola emphasizes the hereditary component of several diseases. These observations probably place him as the first novelist who made an explicit emphasis on the power of inheritance in human behavior. He also mentions for the first time several medical aspects that were seldom addressed in the scientific literature of the time, demonstrating the genius of the writer, his outstanding power of observation and the rigorous preparation with which he wrote his work.}, }
@article {pmid32184270, year = {2020}, author = {Eve, A}, title = {An interview with Eric Olson.}, journal = {Development (Cambridge, England)}, volume = {147}, number = {6}, pages = {}, doi = {10.1242/dev.188854}, pmid = {32184270}, issn = {1477-9129}, mesh = {*Developmental Biology/history ; Faculty, Medical/history ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Biology/history ; Texas ; United States ; }, abstract = {Eric Olson is Professor and Chair of Molecular Biology at the University of Texas Southwestern Medical Center, USA, where he holds the Robert A. Welch Distinguished Chair in Science, the Annie and Willie Nelson Professorship in Stem Cell Research and the Pogue Distinguished Chair in Research in Cardiac Birth Defects. In 1999, he was elected to the US National Academy of Sciences and, in 2001, to the Institute of Medicine of the National Academy. He has received several awards, including the American Heart Association Research Achievement Award in 2008 and the Eugene Braunwald Academic Mentorship award in 2016. He has a lifelong interest in muscle development and disease, with a particular interest in Duchenne muscular dystrophy. In this interview, conducted at the Society for Developmental Biology's 2019 meeting in Boston, Massachusetts, USA, he discusses his experiences in academia and industry, as well as reflecting on the people and opportunities that contributed to his career.}, }
@article {pmid32115246, year = {2019}, author = {Hall, K}, title = {"In Praise of Wool": The development of partition chromatography and its under-appreciated impact on molecular biology.}, journal = {Endeavour}, volume = {43}, number = {4}, pages = {100708}, doi = {10.1016/j.endeavour.2020.100708}, pmid = {32115246}, issn = {1873-1929}, mesh = {Biomedical Research/*history ; Chromatography, Liquid/*history ; History, 20th Century ; Humans ; Medical Laboratory Personnel ; Molecular Biology/*history ; United States ; }, abstract = {The invention of partition chromatography by the biochemists Archer Martin and Richard Synge in 1941 offered crucial insights into the structure and function of DNA, insights at least as important as those from X-ray crystallography. Even so, the role that partition chromatography played in molecular biological studies is far less well known. Using new archival material, this article describes the origins of Martin and Synge's work, arguing that their achievement was far more than a new technical innovation; it went on to have a profound impact on the development of molecular biology to an extent that scholars have insufficiently appreciated.}, }
@article {pmid32094358, year = {2020}, author = {Marcus, JH and Posth, C and Ringbauer, H and Lai, L and Skeates, R and Sidore, C and Beckett, J and Furtwängler, A and Olivieri, A and Chiang, CWK and Al-Asadi, H and Dey, K and Joseph, TA and Liu, CC and Der Sarkissian, C and Radzevičiūtė, R and Michel, M and Gradoli, MG and Marongiu, P and Rubino, S and Mazzarello, V and Rovina, D and La Fragola, A and Serra, RM and Bandiera, P and Bianucci, R and Pompianu, E and Murgia, C and Guirguis, M and Orquin, RP and Tuross, N and van Dommelen, P and Haak, W and Reich, D and Schlessinger, D and Cucca, F and Krause, J and Novembre, J}, title = {Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia.}, journal = {Nature communications}, volume = {11}, number = {1}, pages = {939}, pmid = {32094358}, issn = {2041-1723}, mesh = {Archaeology/methods ; Body Remains ; Chromosomes, Human, X/genetics ; Chromosomes, Human, Y/genetics ; *DNA, Ancient ; DNA, Mitochondrial/*genetics ; Datasets as Topic ; Female ; Genetics, Population/*history ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; History, Medieval ; *Human Migration ; Humans ; Italy ; Male ; *Models, Genetic ; Sequence Analysis, DNA ; }, abstract = {The island of Sardinia has been of particular interest to geneticists for decades. The current model for Sardinia's genetic history describes the island as harboring a founder population that was established largely from the Neolithic peoples of southern Europe and remained isolated from later Bronze Age expansions on the mainland. To evaluate this model, we generate genome-wide ancient DNA data for 70 individuals from 21 Sardinian archaeological sites spanning the Middle Neolithic through the Medieval period. The earliest individuals show a strong affinity to western Mediterranean Neolithic populations, followed by an extended period of genetic continuity on the island through the Nuragic period (second millennium BCE). Beginning with individuals from Phoenician/Punic sites (first millennium BCE), we observe spatially-varying signals of admixture with sources principally from the eastern and northern Mediterranean. Overall, our analysis sheds light on the genetic history of Sardinia, revealing how relationships to mainland populations shifted over time.}, }
@article {pmid32046470, year = {2020}, author = {Pederson, T}, title = {The double helix: "Photo 51" revisited.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {34}, number = {2}, pages = {1923-1927}, doi = {10.1096/fj.202000119}, pmid = {32046470}, issn = {1530-6860}, mesh = {DNA/*chemistry/*history ; History, 20th Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; }, }
@article {pmid32020465, year = {2019}, author = {Hunter, DJ}, title = {Adventures in the environment and genes.}, journal = {European journal of epidemiology}, volume = {34}, number = {12}, pages = {1111-1117}, pmid = {32020465}, issn = {1573-7284}, mesh = {*Gene-Environment Interaction ; Genotype ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/*history ; }, }
@article {pmid31965851, year = {2020}, author = {Tost, J}, title = {10 years of Epigenomics: a journey with the epigenetic community through exciting times.}, journal = {Epigenomics}, volume = {12}, number = {2}, pages = {81-85}, doi = {10.2217/epi-2019-0375}, pmid = {31965851}, issn = {1750-192X}, mesh = {Epigenomics/*history ; History, 21st Century ; Periodicals as Topic/*history ; }, }
@article {pmid31943624, year = {2020}, author = {Butel-Simoes, GI and Macrae, F and Spigelman, AD}, title = {Celebrating the career and contributions of Dr Henry T. Lynch (1928-2019).}, journal = {Internal medicine journal}, volume = {50}, number = {1}, pages = {108-109}, doi = {10.1111/imj.14688}, pmid = {31943624}, issn = {1445-5994}, mesh = {Awards and Prizes ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Gastroenterology/history ; Genetics/history ; History, 20th Century ; History, 21st Century ; Medical Oncology/*history ; United States ; }, abstract = {This article celebrates the career of Dr Henry Lynch and his contributions to cancer genetics through his extensive research, clinical practice and his passion for personalising care by using a patient's genetic profile to determine management and treatment. Dr Lynch's contributions were momentous and continue to have relevance to medical practice, in particular in the fields of clinical genetics, medical oncology and gastroenterology.}, }
@article {pmid31935171, year = {2020}, author = {Peifer, M}, title = {The Eighth Day of Creation: looking back across 40 years to the birth of molecular biology and the roots of modern cell biology.}, journal = {Molecular biology of the cell}, volume = {31}, number = {2}, pages = {81-86}, pmid = {31935171}, issn = {1939-4586}, support = {R35 GM118096/GM/NIGMS NIH HHS/United States ; }, mesh = {Cell Biology/history/*trends ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history/*trends ; }, abstract = {Forty years ago, Horace Judson's The Eighth Day of Creation was published, a book vividly recounting the foundations of modern biology, the molecular biology revolution. This book inspired many in my generation. The anniversary provides a chance for a new generation to take a look back, to see how science has and hasn't changed. Many central players in the book, including Sydney Brenner, Seymour Benzer, and François Jacob, would go on to be among the founders of modern cell biology, developmental biology, and neurobiology. These players come alive via their own words, as complex individuals, both heroes and anti-heroes. The technologies and experimental approaches they pioneered, ranging from cell fractionation to immunoprecipitation to structural biology, and the multidisciplinary approaches they took continue to power and inspire our work today. In the process, Judson brings out of the shadows the central roles played by women in many of the era's discoveries. He provides us with a vision of how science and scientists have changed, of how many things about our endeavor never change, and of how some new ideas are perhaps not as new as we would like to think.}, }
@article {pmid31916357, year = {2020}, author = {Bensch, S}, title = {Scott V. Edwards-Recipient of the 2019 Molecular Ecology Prize.}, journal = {Molecular ecology}, volume = {29}, number = {1}, pages = {20-22}, doi = {10.1111/mec.15348}, pmid = {31916357}, issn = {1365-294X}, mesh = {Awards and Prizes ; Ecology/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history ; }, }
@article {pmid31871165, year = {2020}, author = {Suran, M}, title = {Finding the tail end: The discovery of RNA splicing.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {117}, number = {4}, pages = {1829-1832}, pmid = {31871165}, issn = {1091-6490}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Nobel Prize ; RNA Splicing/*genetics ; }, }
@article {pmid31854131, year = {2019}, author = {}, title = {13th East-West Immunogenetics Conference, 14-16 March 2019, Zagreb, Croatia.}, journal = {HLA}, volume = {94 Suppl 2}, number = {}, pages = {3-76}, doi = {10.1111/tan.13766}, pmid = {31854131}, issn = {2059-2310}, mesh = {*Congresses as Topic/organization &amp; administration/standards ; Croatia ; Europe ; History, 21st Century ; Humans ; Immunogenetics/history/*organization &amp; administration/trends ; }, }
@article {pmid31848463, year = {2020}, author = {Fairbanks, DJ}, title = {Mendel and Darwin: untangling a persistent enigma.}, journal = {Heredity}, volume = {124}, number = {2}, pages = {263-273}, pmid = {31848463}, issn = {1365-2540}, mesh = {*Biological Evolution ; Genetic Research/*history ; History, 19th Century ; Humans ; *Selection, Genetic ; }, abstract = {Mendel and Darwin were contemporaries, with much overlap in their scientifically productive years. Available evidence shows that Mendel knew much about Darwin, whereas Darwin knew nothing of Mendel. Because of the fragmentary nature of this evidence, published inferences regarding Mendel's views on Darwinian evolution are contradictory and enigmatic, with claims ranging from enthusiastic acceptance to outright rejection. The objective of this review is to examine evidence from Mendel's published and private writings on evolution and Darwin, and the influence of the scientific environment in which he was immersed. Much of this evidence lies in Mendel's handwritten annotations in his copies of Darwin's books, which this review scrutinises in detail. Darwin's writings directly influenced Mendel's classic 1866 paper, and his letters to Nägeli. He commended and criticised Darwin on specific issues pertinent to his research, including the provisional hypothesis of pangenesis, the role of pollen in fertilisation, and the influence of "conditions of life" on heritable variation. In his final letter to Nägeli, Mendel proposed a Darwinian scenario for natural selection using the same German term for "struggle for existence" as in his copies of Darwin's books. His published and private scientific writings are entirely objective, devoid of polemics or religious allusions, and address evolutionary questions in a manner consistent with that of his scientific contemporaries. The image that emerges of Mendel is of a meticulous scientist who accepted the tenets of Darwinian evolution, while privately pinpointing aspects of Darwin's views of inheritance that were not supported by Mendel's own experiments.}, }
@article {pmid31828295, year = {2020}, author = {Meli, AC and Seidman, CE}, title = {Scientists on the Spot: Putting a halt to hypertrophic cardiomyopathy.}, journal = {Cardiovascular research}, volume = {116}, number = {3}, pages = {e42-e43}, doi = {10.1093/cvr/cvz296}, pmid = {31828295}, issn = {1755-3245}, mesh = {Biomedical Research/*history ; Cardiology/*history ; Cardiomyopathy, Hypertrophic/genetics/*history/physiopathology/therapy ; Genetic Predisposition to Disease ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Phenotype ; }, }
@article {pmid31815703, year = {2020}, author = {, }, title = {Ten Years of the International Parkinson Disease Genomics Consortium: Progress and Next Steps.}, journal = {Journal of Parkinson's disease}, volume = {10}, number = {1}, pages = {19-30}, pmid = {31815703}, issn = {1877-718X}, mesh = {Biomedical Research/history/*organization &amp; administration ; Genomics/history/*organization &amp; administration ; History, 21st Century ; Humans ; International Cooperation ; Parkinson Disease/*genetics ; Societies, Scientific/history/*organization &amp; administration ; }, abstract = {In June 2009 a small group of investigators met at the annual Movement Disorders Society meeting in Paris. The explicit goal of this meeting was to discuss a potential research alliance focused on the genetics of Parkinson disease (PD). The outcome of this informal meeting was the creation of the International Parkinson Disease Genomics Consortium (IPDGC), a group focused on collaborative genetics research, enabled by trust, sharing, and as little paperwork as possible. The IPDGC has grown considerably since its inception, including over 100 scientists from around the World. The focus has also grown, to include clinical and functional investigation of PD at scale. Most recently, the IPDGC has expanded to initiate major research efforts in East Asia and Africa, and has prioritized collaborations with ongoing major efforts in India and South America. Here we summarize the efforts of the IPDGC thus far and place these in the context of a decade of progress in PD genomics. We also discuss the future direction of IPDGC and our stated research priorities for the next decade.}, }
@article {pmid31794267, year = {2019}, author = {Schüpbach, T}, title = {Genetic Screens to Analyze Pattern Formation of Egg and Embryo in Drosophila: A Personal History.}, journal = {Annual review of genetics}, volume = {53}, number = {}, pages = {1-18}, doi = {10.1146/annurev-genet-112618-043708}, pmid = {31794267}, issn = {1545-2948}, mesh = {Animals ; Body Patterning/genetics ; Drosophila Proteins/genetics/metabolism ; Drosophila melanogaster/*embryology/*genetics ; Embryo, Nonmammalian ; ErbB Receptors/genetics/metabolism ; Female ; Gene Expression Regulation, Developmental ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Male ; Oocytes/physiology ; Ovary/growth &amp; development/physiology ; Ovum/*physiology ; Receptors, Invertebrate Peptide/genetics/metabolism ; Sex Determination Analysis ; Sex Determination Processes ; United States ; }, abstract = {In Drosophila development, the axes of the egg and future embryo are established during oogenesis. To learn about the underlying genetic and molecular pathways that lead to axis formation, I conducted a large-scale genetic screen at the beginning of my independent career. This led to the eventual understanding that both anterior-posterior and dorsal-ventral pattern information is transmitted from the oocyte to the surrounding follicle cells and in turn from the follicle cells back to the oocyte. How I came to conduct this screen and what further insights were gained by studying the mutants isolated in the screen are the topics of this autobiographical article.}, }
@article {pmid31748931, year = {2020}, author = {Hewitt, JK}, title = {Celebrating the 50th Anniversary of the Journal, Behavior Genetics.}, journal = {Behavior genetics}, volume = {50}, number = {1}, pages = {1-2}, doi = {10.1007/s10519-019-09981-8}, pmid = {31748931}, issn = {1573-3297}, mesh = {Anniversaries and Special Events ; Genetics, Behavioral/*history/*trends ; History, 20th Century ; Humans ; }, }
@article {pmid31744454, year = {2019}, author = {, }, title = {GSE's 50th anniversary: where do we go from now?.}, journal = {Genetics, selection, evolution : GSE}, volume = {51}, number = {1}, pages = {66}, doi = {10.1186/s12711-019-0504-4}, pmid = {31744454}, issn = {1297-9686}, mesh = {Animals ; Genetics/*history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Periodicals as Topic/*history ; Selection, Genetic ; }, }
@article {pmid31729651, year = {2020}, author = {Morris, CB and Poland, JC and May, JC and McLean, JA}, title = {Fundamentals of Ion Mobility-Mass Spectrometry for the Analysis of Biomolecules.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {2084}, number = {}, pages = {1-31}, pmid = {31729651}, issn = {1940-6029}, support = {R01 GM092218/GM/NIGMS NIH HHS/United States ; R03 CA222452/CA/NCI NIH HHS/United States ; }, mesh = {*Genomics/history/instrumentation/methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; *Ion Mobility Spectrometry/history/instrumentation/methods/trends ; *Metabolomics/history/instrumentation/methods/trends ; *Proteomics/history/instrumentation/methods/trends ; }, abstract = {Ion mobility-mass spectrometry (IM-MS) combines complementary size- and mass-selective separations into a single analytical platform. This chapter provides context for both the instrumental arrangements and key application areas that are commonly encountered in bioanalytical settings. New advances in these high-throughput strategies are described with description of complementary informatics tools to effectively utilize these data-intensive measurements. Rapid separations such as these are especially important in systems, synthetic, and chemical biology in which many small molecules are transient and correspond to various biological classes for integrated omics measurements. This chapter highlights the fundamentals of IM-MS and its applications toward biomolecular separations and discusses methods currently being used in the fields of proteomics, lipidomics, and metabolomics.}, }
@article {pmid31717816, year = {2019}, author = {Berthel, E and Ferlazzo, ML and Devic, C and Bourguignon, M and Foray, N}, title = {What Does the History of Research on the Repair of DNA Double-Strand Breaks Tell Us?-A Comprehensive Review of Human Radiosensitivity.}, journal = {International journal of molecular sciences}, volume = {20}, number = {21}, pages = {}, pmid = {31717816}, issn = {1422-0067}, support = {INDIRA Project//Commissariat Général à l'Investissement/ ; BERNADOTTE project//Centre National d'Etudes Spatiales/ ; PROUST Project//Institut National Du Cancer/ ; }, mesh = {Animals ; Ataxia Telangiectasia Mutated Proteins/genetics/metabolism ; Biomarkers/metabolism ; Cytogenetics/history ; *DNA Breaks, Double-Stranded ; DNA End-Joining Repair ; DNA Repair/*genetics ; Histones/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Radiation Tolerance/*genetics ; Radiation, Ionizing ; Research/history ; }, abstract = {Our understanding of the molecular and cellular response to ionizing radiation (IR) has progressed considerably. This is notably the case for the repair and signaling of DNA double-strand breaks (DSB) that, if unrepaired, can result in cell lethality, or if misrepaired, can cause cancer. However, through the different protocols, techniques, and cellular models used during the last four decades, the DSB repair kinetics and the relationship between cellular radiosensitivity and unrepaired DSB has varied drastically, moving from all-or-none phenomena to very complex mechanistic models. To date, personalized medicine has required a reliable evaluation of the IR-induced risks that have become a medical, scientific, and societal issue. However, the molecular bases of the individual response to IR are still unclear: there is a gap between the moderate radiosensitivity frequently observed in clinic but poorly investigated in the publications and the hyper-radiosensitivity of rare but well-characterized genetic diseases frequently cited in the mechanistic models. This paper makes a comprehensive review of semantic issues, correlations between cellular radiosensitivity and unrepaired DSB, shapes of DSB repair curves, and DSB repair biomarkers in order to propose a new vision of the individual response to IR that would be more coherent with clinical reality.}, }
@article {pmid31704364, year = {2020}, author = {Rawson, RV and Scolyer, RA}, title = {From Breslow to BRAF and immunotherapy: evolving concepts in melanoma pathogenesis and disease progression and their implications for changing management over the last 50 years.}, journal = {Human pathology}, volume = {95}, number = {}, pages = {149-160}, doi = {10.1016/j.humpath.2019.09.017}, pmid = {31704364}, issn = {1532-8392}, mesh = {Antineoplastic Agents, Immunological/history/*therapeutic use ; *Biomarkers, Tumor/antagonists &amp; inhibitors/genetics/history ; *Dermatology/history/trends ; Diffusion of Innovation ; Disease Progression ; Genetic Predisposition to Disease ; History, 20th Century ; History, 21st Century ; Humans ; *Melanoma/drug therapy/genetics/history/pathology ; Molecular Targeted Therapy/history/trends ; *Mutation ; Pathology, Molecular/history/trends ; Phenotype ; *Proto-Oncogene Proteins B-raf/antagonists &amp; inhibitors/genetics/history ; *Skin Neoplasms/drug therapy/genetics/history/pathology ; }, abstract = {Since it was first recognized as a disease entity more than two centuries ago, advanced melanoma has, until recently, followed a very aggressive and almost universally fatal clinical course. However, over the past 50 years crucial ground breaking research has greatly enhanced our understanding of the etiology, risk factors, genomic pathogenesis, immunological interactions, prognostic features and management of melanoma. It is this combined body of work which has culminated in the exciting improvements in patient outcomes for those with advanced melanoma over the last ten years. In this the 50th anniversary of Human Pathology, we highlight the key developments in melanoma over this period.}, }
@article {pmid31701880, year = {2019}, author = {Meunier, R}, title = {Project knowledge and its resituation in the design of research projects: Seymour Benzer's behavioral genetics, 1965-1974.}, journal = {Studies in history and philosophy of science}, volume = {77}, number = {}, pages = {39-53}, doi = {10.1016/j.shpsa.2018.04.001}, pmid = {31701880}, issn = {0039-3681}, support = {/ERC_/European Research Council/International ; }, mesh = {Animals ; Behavior, Animal ; Drosophila melanogaster/genetics ; Genetics, Behavioral/*history/methods ; History, 20th Century ; *Research Design ; }, abstract = {The article introduces a framework for analyzing the knowledge that researchers draw upon when designing a research project by distinguishing four types of "project knowledge": goal knowledge, which concerns possible outcomes, and three forms of implementation knowledge that concern the realization of the project: 1) methodological knowledge that specifies possible experimental and non-experimental strategies to achieve the chosen goal; 2) representational knowledge that suggests ways to represent data, hypotheses, or outcomes; and 3) organizational knowledge that helps to build or navigate the material and social structures that enable a project. In the design of research projects such knowledge will be transferred from other successful projects and these processes will be analyzed in terms of modes of resituating knowledge. The account is developed by analyzing a case from the history of biology. In a reciprocal manner, it enables a better understanding of the historical episode in question: around 1970, several researchers who had made successful careers in the emerging field of molecular biology, working with bacterial model systems, attempted to create a molecular biology of the physiological processes in multicellular organisms. One of them was Seymour Benzer, who designed a research project addressing the physiological processes underlying behavior in Drosophila.}, }
@article {pmid31697016, year = {2019}, author = {Wolinsky, H}, title = {Ancient DNA and contemporary politics: The analysis of ancient DNA challenges long-held beliefs about identity and history with potential for political abuse.}, journal = {EMBO reports}, volume = {20}, number = {12}, pages = {e49507}, pmid = {31697016}, issn = {1469-3178}, mesh = {Americas ; *DNA, Ancient ; Emigration and Immigration/history ; Europe ; Genetics, Population/history ; History, Ancient ; Human Genetics ; Human Migration/*history ; Humans ; *Politics ; Racism ; }, abstract = {The sequencing and analysis of ancient human DNA has helped to rewrite human history. But it is also tempting politicians, nationalists and supremacists to abuse this research for their agendas.}, }
@article {pmid31695220, year = {2019}, author = {}, title = {Nature at 150: evidence in pursuit of truth.}, journal = {Nature}, volume = {575}, number = {7781}, pages = {7-8}, pmid = {31695220}, issn = {1476-4687}, mesh = {Animals ; Anniversaries and Special Events ; Astronomy/history ; Authorship ; DNA/chemistry/history ; *Ethics, Research/history ; Fossils ; Global Warming/legislation &amp; jurisprudence/prevention &amp; control/statistics &amp; numerical data ; Group Processes ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Hominidae ; Human Genome Project/history ; Humans ; International Cooperation ; Ozone/analysis/history ; Paleontology/history ; Peer Review, Research ; Periodicals as Topic/*history/*standards/trends ; Physics/history ; Reproducibility of Results ; Research/education/*history/standards/*trends ; }, }
@article {pmid31682887, year = {2020}, author = {Solanki, M and Visscher, D}, title = {Pathology of breast cancer in the last half century.}, journal = {Human pathology}, volume = {95}, number = {}, pages = {137-148}, doi = {10.1016/j.humpath.2019.09.007}, pmid = {31682887}, issn = {1532-8392}, mesh = {Biomarkers, Tumor/genetics/history ; Breast/*pathology ; Breast Neoplasms/genetics/history/*pathology ; Diffusion of Innovation ; Female ; Genetic Predisposition to Disease ; History, 20th Century ; History, 21st Century ; Humans ; *Pathology, Molecular/history/trends ; }, abstract = {The past 50 years has been an era of technological innovation converging with the now dominant culture of testing hypotheses using clinical trials and case cohort methodology with rigorous statistical analysis. Great advances have been made in early diagnosis and, especially, less toxic and disfiguring primary therapy. Many of the advances in pathology have been in conjunction with efforts to support clinical initiatives, improve diagnostic reliability and translate basic science discoveries into tests that stratify patient management. Pathologists, with the support of epidemiologists, have lead significant advancements in the description and clinical significance of benign breast disease. Despite considerable efforts, the cure for breast cancer awaits better understanding of the pathophysiology of metastasis. We stand now at the brink a new era of technology, in which powerful genomic assays may be put to use in uncovering targets of therapy and defining mechanisms of disease progression. Pathologists must be active in ensuring that discoveries in this realm are optimized by assuring association with appropriate histological correlation and valid clinical endpoints.}, }
@article {pmid31674271, year = {2020}, author = {Cavaillon, JM}, title = {André Boivin: A pioneer in endotoxin research and an amazing visionary during the birth of molecular biology.}, journal = {Innate immunity}, volume = {26}, number = {3}, pages = {165-171}, pmid = {31674271}, issn = {1753-4267}, mesh = {Endotoxins/*history ; France ; History, 20th Century ; Molecular Biology/*history ; Research/*history ; }, }
@article {pmid31669060, year = {2020}, author = {Folpe, AL}, title = {"Hey! Whatever happened to hemangiopericytoma and fibrosarcoma?" An update on selected conceptual advances in soft tissue pathology which have occurred over the past 50 years.}, journal = {Human pathology}, volume = {95}, number = {}, pages = {113-136}, doi = {10.1016/j.humpath.2019.10.001}, pmid = {31669060}, issn = {1532-8392}, mesh = {Biomarkers, Tumor/analysis/genetics/history ; Diffusion of Innovation ; Fibrosarcoma/chemistry/genetics/history/*pathology ; Genetic Predisposition to Disease ; Hemangiopericytoma/chemistry/genetics/history/*pathology ; History, 20th Century ; History, 21st Century ; Humans ; *Immunohistochemistry/history/trends ; *Pathology, Molecular/history/trends ; Phenotype ; Predictive Value of Tests ; Soft Tissue Neoplasms/chemistry/genetics/history/*pathology ; }, abstract = {Hemangiopericytoma and fibrosarcoma represented at one time two of the most common diagnoses in soft tissue pathology. Both terms are now largely extinct. This article will review the clinicopathologic, immunohistochemical and molecular genetic advances that have led to these changes, and review the pathologic features of a select group of soft tissue tumors previously classified as hemangiopericytoma or fibrosarcoma.}, }
@article {pmid31659490, year = {2019}, author = {Lowe, JWE and Bruce, A}, title = {Genetics without genes? The centrality of genetic markers in livestock genetics and genomics.}, journal = {History and philosophy of the life sciences}, volume = {41}, number = {4}, pages = {50}, doi = {10.1007/s40656-019-0290-x}, pmid = {31659490}, issn = {1742-6316}, support = {678757//H2020 European Research Council/ ; }, mesh = {Animal Husbandry/*history ; Animals ; *Genetic Markers ; Genetic Techniques/*history ; Genetics/*history ; Genomics/history/methods ; History, 20th Century ; Sus scrofa/*genetics ; }, abstract = {In this paper, rather than focusing on genes as an organising concept around which historical considerations of theory and practice in genetics are elucidated, we place genetic markers at the heart of our analysis. This reflects their central role in the subject of our account, livestock genetics concerning the domesticated pig, Sus scrofa. We define a genetic marker as a (usually material) element existing in different forms in the genome, that can be identified and mapped using a variety (and often combination) of quantitative, classical and molecular genetic techniques. The conjugation of pig genome researchers around the common object of the marker from the early-1990s allowed the distinctive theories and approaches of quantitative and molecular genetics concerning the size and distribution of gene effects to align (but never fully integrate) in projects to populate genome maps. Critical to this was the nature of markers as ontologically inert, internally heterogeneous and relational. Though genes as an organising and categorising principle remained important, the particular concatenation of limitations, opportunities, and intended research goals of the pig genetics community, meant that a progressively stronger focus on the identification and mapping of markers rather than genes per se became a hallmark of the community. We therefore detail a different way of doing genetics to more gene-centred accounts. By doing so, we reveal the presence of practices, concepts and communities that would otherwise be hidden.}, }
@article {pmid31655169, year = {2020}, author = {MacLennan, GT and Cheng, L}, title = {Five decades of urologic pathology: the accelerating expansion of knowledge in renal cell neoplasia.}, journal = {Human pathology}, volume = {95}, number = {}, pages = {24-45}, doi = {10.1016/j.humpath.2019.09.009}, pmid = {31655169}, issn = {1532-8392}, mesh = {Biomarkers, Tumor/genetics/history ; Diffusion of Innovation ; Genetic Predisposition to Disease ; History, 20th Century ; History, 21st Century ; Humans ; Kidney Neoplasms/classification/genetics/history/*pathology ; *Pathology, Molecular/history/trends ; Phenotype ; *Urology/history/trends ; }, abstract = {Those who are knowledgeable in cosmology inform us that the expansion of the universe is such that the velocity at which a distant galaxy is receding from the observer is continually increasing with time. We humbly paraphrase that as "The bigger the universe gets, the faster it gets bigger." This is an interesting analogy for the expansion of knowledge in the field of renal tumor pathology over the past 30 to 50 years. It is clear that a multitude of dedicated investigators have devoted incalculable amounts of time and effort to the pursuit of knowledge about renal epithelial neoplasms. As a consequence of the contributions of numerous investigators over many decades, the most recent World Health Organization classification of renal neoplasms includes about 50 well defined and distinctive renal tumors, as well as various miscellaneous and metastatic tumors. In addition, a number of emerging or provisional new entities are under active investigation and may be included in future classifications. In this review, we will focus on a number of these tumors, tracing as accurately as we can the origins of their discovery, relating relevant additions to the overall knowledge base surrounding them, and in some instances addressing changes in nomenclature.}, }
@article {pmid31654692, year = {2020}, author = {Baloch, Z and LiVolsi, VA}, title = {Fifty years of thyroid pathology: concepts and developments.}, journal = {Human pathology}, volume = {95}, number = {}, pages = {46-54}, doi = {10.1016/j.humpath.2019.09.008}, pmid = {31654692}, issn = {1532-8392}, mesh = {Biomarkers, Tumor/genetics/history ; Diffusion of Innovation ; Genetic Predisposition to Disease ; History, 20th Century ; History, 21st Century ; Humans ; *Pathology/history/trends ; *Pathology, Molecular/history/trends ; Thyroid Diseases/genetics/history/*pathology ; Thyroid Gland/*pathology ; }, abstract = {The past half century has seen a number of advances in pathology of thyroid diseases, especially neoplastic lesions. These include the description of new entities, the definition of prognostically important lesions, the incorporation of fine needle aspiration biopsy and its functional risk stratification of diagnoses into the clinical evaluation and therapeutic recommendations of the patient with thyroid nodules and the understanding of thyroid neoplastic development, diagnostic and prognostic parameters by use of molecular analysis so that such techniques are becoming standard of care for patients with thyroid tumors. The histopathologist and cytopathologist have been and continue to be at the forefront in the definition and understanding of these areas of thyroid disease. This review describes many of the most important advances in this area in an attempt bring the practicing pathologist up to date in these developments.}, }
@article {pmid31654669, year = {2020}, author = {de Wit, E}, title = {TADs as the Caller Calls Them.}, journal = {Journal of molecular biology}, volume = {432}, number = {3}, pages = {638-642}, doi = {10.1016/j.jmb.2019.09.026}, pmid = {31654669}, issn = {1089-8638}, mesh = {Chromatin/*chemistry/*metabolism ; Gene Expression Regulation ; History, 21st Century ; Macromolecular Substances/*chemistry/*metabolism ; Molecular Biology/*history/trends ; *Molecular Conformation ; }, abstract = {Developments in proximity ligation methods and sequencing technologies have provided high-resolution views of the organization of the genome inside the nucleus. A prominent feature of Hi-C maps is regions of increased self-interaction called topologically associating domains (TADs). Despite the strong evolutionary conservation and clear link with gene expression, the exact role of TADs and even their definition remains debatable. Here, I review the discovery of TADs, how they are commonly identified, and the mechanisms that lead to their formation. Furthermore, I discuss recent results that have created a more nuanced view of the role of TADs in the regulation of genes. In light of this, I propose that when we define TADs, we also consider the mechanisms that shape them.}, }
@article {pmid31650470, year = {2019}, author = {Veuille, M}, title = {Chance, Variation and Shared Ancestry: Population Genetics After the Synthesis.}, journal = {Journal of the history of biology}, volume = {52}, number = {4}, pages = {537-567}, pmid = {31650470}, issn = {1573-0387}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Models, Biological ; *Selection, Genetic ; }, abstract = {Chance has been a focus of attention ever since the beginning of population genetics, but neutrality has not, as natural selection once appeared to be the only worthwhile issue. Neutral change became a major source of interest during the neutralist-selectionist debate, 1970-1980. It retained interest beyond this period for two reasons that contributed to its becoming foundational for evolutionary reasoning. On the one hand, neutral evolution was the first mathematical prediction to emerge from Mendelian inheritance: until then evolution by natural selection was considered the alternative to the fixity of species; now it appears to be the alternative to continuous change. Second, neutral change generated a set of clear predictions on standing variation. These could be used as a reference for detecting more elusive alternative mechanisms of evolution including natural selection. In the wake of the transition from Mendelism to genomics, the combination of coalescent theory, DNA sequence variation, and numerical analysis made it possible to integrate contingent aspects of the history of species into a new null model, thus opening a new dimension in the concept of population that the Modern Synthesis formerly considered as a mere gene pool.}, }
@article {pmid31649123, year = {2020}, author = {Roy, S and Liu, W and Nandety, RS and Crook, A and Mysore, KS and Pislariu, CI and Frugoli, J and Dickstein, R and Udvardi, MK}, title = {Celebrating 20 Years of Genetic Discoveries in Legume Nodulation and Symbiotic Nitrogen Fixation.}, journal = {The Plant cell}, volume = {32}, number = {1}, pages = {15-41}, pmid = {31649123}, issn = {1532-298X}, mesh = {Bacteria ; Cell Division ; Fabaceae/*genetics ; Flavonoids ; Gene Editing ; Gene Expression Regulation, Plant ; Genes, Plant/*genetics ; Genetic Association Studies/*history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Homeostasis ; Host Microbial Interactions/genetics/physiology ; Lotus/genetics ; Medicago truncatula/genetics ; Nitrogen Fixation/*genetics/physiology ; Organogenesis ; Oxygen ; Phaseolus/genetics ; Plant Growth Regulators ; Plant Proteins/genetics ; Plant Root Nodulation/*genetics/physiology ; Signal Transduction ; Soybeans/genetics ; Symbiosis/*genetics/physiology ; }, abstract = {Since 1999, various forward- and reverse-genetic approaches have uncovered nearly 200 genes required for symbiotic nitrogen fixation (SNF) in legumes. These discoveries advanced our understanding of the evolution of SNF in plants and its relationship to other beneficial endosymbioses, signaling between plants and microbes, the control of microbial infection of plant cells, the control of plant cell division leading to nodule development, autoregulation of nodulation, intracellular accommodation of bacteria, nodule oxygen homeostasis, the control of bacteroid differentiation, metabolism and transport supporting symbiosis, and the control of nodule senescence. This review catalogs and contextualizes all of the plant genes currently known to be required for SNF in two model legume species, Medicago truncatula and Lotus japonicus, and two crop species, Glycine max (soybean) and Phaseolus vulgaris (common bean). We also briefly consider the future of SNF genetics in the era of pan-genomics and genome editing.}, }
@article {pmid31630114, year = {2020}, author = {Benson, DL}, title = {Of Molecules and Mechanisms.}, journal = {The Journal of neuroscience : the official journal of the Society for Neuroscience}, volume = {40}, number = {1}, pages = {81-88}, pmid = {31630114}, issn = {1529-2401}, support = {R01 MH103455/MH/NIMH NIH HHS/United States ; R01 MH104491/MH/NIMH NIH HHS/United States ; R01 NS107512/NS/NINDS NIH HHS/United States ; }, mesh = {Animals ; CRISPR-Cas Systems ; Exocytosis ; Gene Expression Regulation ; Gene Transfer Techniques/history ; Genes, Reporter ; History, 20th Century ; History, 21st Century ; Humans ; In Situ Hybridization/history/methods ; Microscopy/history/methods ; Molecular Biology/*history/methods ; Nerve Tissue Proteins/genetics/physiology ; Neurosciences/*history ; PDZ Domains ; Polymerase Chain Reaction/history ; Protein Engineering/history ; RNA/genetics ; Recombinant Proteins ; Sequence Analysis, DNA/history/methods ; }, abstract = {Without question, molecular biology drives modern neuroscience. The past 50 years has been nothing short of revolutionary as key findings have moved the field from correlation toward causation. Most obvious are the discoveries and strategies that have been used to build tools for visualizing circuits, measuring activity, and regulating behavior. Less flashy, but arguably as important are the myriad investigations uncovering the actions of single molecules, macromolecular structures, and integrated machines that serve as the basis for constructing cellular and signaling pathways identified in wide-scale gene or RNA studies and for feeding data into informational networks used in systems biology. This review follows the pathways that were opened in neuroscience by major discoveries and set the stage for the next 50 years.}, }
@article {pmid31628163, year = {2019}, author = {Salomé, PA}, title = {Sabeeha Merchant.}, journal = {The Plant cell}, volume = {31}, number = {12}, pages = {2814-2816}, pmid = {31628163}, issn = {1532-298X}, mesh = {Chlamydomonas reinhardtii/genetics/*metabolism ; Cyanobacteria/chemistry/metabolism ; Electron Transport Chain Complex Proteins/chemistry/*metabolism ; Genomics ; History, 20th Century ; History, 21st Century ; Homeostasis/physiology ; Humans ; Metals/chemistry/*metabolism ; Molecular Biology/history ; }, }
@article {pmid31611500, year = {2019}, author = {Sakaki, Y}, title = {A Japanese history of the Human Genome Project.}, journal = {Proceedings of the Japan Academy. Series B, Physical and biological sciences}, volume = {95}, number = {8}, pages = {441-458}, pmid = {31611500}, issn = {1349-2896}, mesh = {History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; Japan ; }, abstract = {The Human Genome Project (HGP) is one of the most important international achievements in life sciences, to which Japanese scientists made remarkable contributions. In the early 1980s, Akiyoshi Wada pioneered the first project for the automation of DNA sequencing technology. Ken-ichi Matsubara exhibited exceptional leadership to launch the comprehensive human genome program in Japan. Hideki Kambara made a major contribution by developing a key device for high-speed DNA sequencers, which enabled scientists to construct human genome draft sequences. The RIKEN team led by Yoshiyuki Sakaki (the author) played remarkable roles in the draft sequencing and completion of chromosomes 21, 18, and 11. Additionally, the Keio University team led by Nobuyoshi Shimizu made noteworthy contributions to the completion of chromosomes 22, 21, and 8. In April 2003, the Japanese team joined the international consortium in declaring the completion of the human genome sequence. Consistent with the HGP mandate, Japan has successfully developed a wide range of ambitious genomic sciences.}, }
@article {pmid31594846, year = {2019}, author = {Cox, SL and Ruff, CB and Maier, RM and Mathieson, I}, title = {Genetic contributions to variation in human stature in prehistoric Europe.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {116}, number = {43}, pages = {21484-21492}, pmid = {31594846}, issn = {1091-6490}, support = {R35 GM133708/GM/NIGMS NIH HHS/United States ; }, mesh = {*Body Height ; DNA, Ancient/*chemistry ; Europe ; European Continental Ancestry Group/*genetics/*history ; *Genetic Variation ; Genetics, Population/history ; History, Ancient ; Human Genetics/*history ; Humans ; Paleontology ; Phenotype ; Polymorphism, Single Nucleotide ; }, abstract = {The relative contributions of genetics and environment to temporal and geographic variation in human height remain largely unknown. Ancient DNA has identified changes in genetic ancestry over time, but it is not clear whether those changes in ancestry are associated with changes in height. Here, we directly test whether changes over the past 38,000 y in European height predicted using DNA from 1,071 ancient individuals are consistent with changes observed in 1,159 skeletal remains from comparable populations. We show that the observed decrease in height between the Early Upper Paleolithic and the Mesolithic is qualitatively predicted by genetics. Similarly, both skeletal and genetic height remained constant between the Mesolithic and Neolithic and increased between the Neolithic and Bronze Age. Sitting height changes much less than standing height-consistent with genetic predictions-although genetics predicts a small post-Neolithic increase that is not observed in skeletal remains. Geographic variation in stature is also qualitatively consistent with genetic predictions, particularly with respect to latitude. Finally, we hypothesize that an observed decrease in genetic heel bone mineral density in the Neolithic reflects adaptation to the decreased mobility indicated by decreased femoral bending strength. This study provides a model for interpreting phenotypic changes predicted from ancient DNA and demonstrates how they can be combined with phenotypic measurements to understand the relative contribution of genetic and developmentally plastic responses to environmental change.}, }
@article {pmid31585632, year = {2019}, author = {Marnett, LJ}, title = {Adventures with Bruce Ames and the Ames test.}, journal = {Mutation research}, volume = {846}, number = {}, pages = {403070}, pmid = {31585632}, issn = {1873-135X}, support = {R01 CA087819/CA/NCI NIH HHS/United States ; }, mesh = {Activation, Metabolic ; Animals ; Biochemistry/*history ; California ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Microsomes, Liver/enzymology ; Molecular Structure ; Mutagenesis ; Mutagenicity Tests/*history/methods ; Mutagens/toxicity ; Rats ; Rats, Sprague-Dawley ; Salmonella/drug effects/genetics ; }, abstract = {Bruce Ames has had an enormous impact on human health by developing facile methods for the identification of mutagens. This research also provided important insights into the relationship between mutagenesis and carcinogenesis. Bruce is a highly innovative and creative individual who has followed his interests across disciplines into diverse fields of inquiry. The present author had the pleasure of spending a sabbatical in the Ames lab and utilized the Ames test in multiple aspects of his research. He describes both in this honorific to Bruce on the occasion of his 90th birthday.}, }
@article {pmid31571023, year = {2019}, author = {Beatty, J}, title = {The Creativity of Natural Selection? Part II: The Synthesis and Since.}, journal = {Journal of the history of biology}, volume = {52}, number = {4}, pages = {705-731}, pmid = {31571023}, issn = {1573-0387}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 19th Century ; History, 20th Century ; *Selection, Genetic ; }, abstract = {This is the second of a two-part essay on the history of debates concerning the creativity of natural selection, from Darwin through the evolutionary synthesis and up to the present. In the first part, I focussed on the mid-late nineteenth century to the early twentieth, with special emphasis on early Darwinism and its critics, the self-styled "mutationists." The second part focuses on the evolutionary synthesis and some of its critics, especially the "neutralists" and "neo-mutationists." Like Stephen Gould, I consider the creativity of natural selection to be a key component of what has traditionally counted as "Darwinism." I argue that the creativity of natural selection is best understood in terms of (1) selection initiating evolutionary change, and (2) selection directing evolutionary change, for example by creating the variation that it subsequently acts upon. I consider the respects in which both of these claims sound non-Darwinian, even though they have long been understood by supporters and critics alike to be virtually constitutive of Darwinism.}, }
@article {pmid31546266, year = {2020}, author = {Müller, DJ and Rizhanovsky, Z}, title = {From the Origins of Pharmacogenetics to First Applications in Psychiatry.}, journal = {Pharmacopsychiatry}, volume = {53}, number = {4}, pages = {155-161}, doi = {10.1055/a-0979-2322}, pmid = {31546266}, issn = {1439-0795}, mesh = {Germany ; History, 20th Century ; History, 21st Century ; Humans ; Mental Disorders/*genetics/*history/therapy ; Pharmacogenetics/*history ; Precision Medicine ; Psychiatry/*history ; }, abstract = {Pharmacogenetics is the division of science addressing how genetic factors contribute to the metabolism, response, and side effects of a given medication. What was once regarded as a subdivision of genetics and pharmacology is now recognized as its own field and has its own unique story of origin. While the term "pharmacogenetics" was coined by Friedrich Vogel in 1959, the relevance of inherited genetic traits in affecting the clinical outcome to xenobiotics has been observed long before. In fact, there is much hope that pharmacogenetics can help unravel the "mysteries" as to why different people may display variable responses to the same medication as well as identify new drug targets. This article will highlight the conceptual framework for pharmacogenetics advanced by pioneer scientists Arno Motulsky and Friedrich Vogel (both human geneticists), as well as Werner Kalow (clinical pharmacologist), leading up to the creation of modern pharmacogenetics. Finally, the practical implications and first steps toward implementation for current psychiatric treatment are reviewed followed by an outlook on future studies.}, }
@article {pmid31522479, year = {2019}, author = {Wilson, K and Narasimhan, V and Pham, T and Das, A and Ramsay, R and Heriot, A}, title = {Precision medicine in colorectal surgery: coming to a hospital near you.}, journal = {ANZ journal of surgery}, volume = {89}, number = {9}, pages = {995-996}, doi = {10.1111/ans.15391}, pmid = {31522479}, issn = {1445-2197}, mesh = {Antibodies, Monoclonal, Humanized/therapeutic use ; Australia/epidemiology ; Cetuximab/therapeutic use ; Circulating Tumor DNA/blood/genetics ; Colorectal Neoplasms/*metabolism/mortality/therapy ; Colorectal Surgery/*standards/statistics &amp; numerical data ; Genomics/*methods ; History, 21st Century ; Hospitals ; Human Genome Project/*history ; Humans ; Immunotherapy/methods ; Microarray Analysis/methods ; Mitogen-Activated Protein Kinase Kinases/antagonists &amp; inhibitors ; Mutation ; Neoadjuvant Therapy/methods ; Precision Medicine/*methods ; Predictive Value of Tests ; Proto-Oncogene Proteins p21(ras)/metabolism ; }, }
@article {pmid31521627, year = {2020}, author = {Hruban, RH and Klimstra, DS and Zamboni, G and Klöppel, G}, title = {A semicentennial of pancreatic pathology: the genetic revolution is here, but don't throw the baby out with the bath water!.}, journal = {Human pathology}, volume = {95}, number = {}, pages = {99-112}, doi = {10.1016/j.humpath.2019.08.024}, pmid = {31521627}, issn = {1532-8392}, mesh = {Diffusion of Innovation ; Genetic Predisposition to Disease ; History, 20th Century ; History, 21st Century ; Humans ; Pancreas/*pathology ; Pancreatic Diseases/genetics/history/*pathology ; *Pathology, Molecular/history/trends ; Phenotype ; Predictive Value of Tests ; }, abstract = {The last 50 years have witnessed an explosion in our understanding of the pathology of pancreatic diseases. Entities known to exist 50 years ago have been defined more precisely and are now better classified. New entities, previously not recognized, have been discovered and can now be treated. Importantly, new tools have been developed that have unraveled the fundamental biological drivers of a number of pancreatic diseases. Many of these same tools have also been applied clinically, supplementing the tried and true hematoxylin and eosin stained slide with a plethora of new, highly sensitive and specific tests that improve diagnostic accuracy and delineate best treatments. As exciting as these many advances are, our knowledge of pancreatic pathology remains incomplete, and there is much to be learned.}, }
@article {pmid31501597, year = {2019}, author = {Nik-Zainal, S}, title = {A path inspired by people.}, journal = {Nature medicine}, volume = {25}, number = {9}, pages = {1329}, doi = {10.1038/s41591-019-0570-8}, pmid = {31501597}, issn = {1546-170X}, mesh = {Genetic Counseling/*history ; *Genetic Diseases, Inborn ; History, 21st Century ; Humans ; }, }
@article {pmid31495822, year = {2019}, author = {Hyun, J}, title = {Doctors Discussing "the Root of Koreans": Medical Genetics and the Korean Origin, 1975-1987.}, journal = {Ui sahak}, volume = {28}, number = {2}, pages = {551-590}, doi = {10.13081/kjmh.2019.28.551}, pmid = {31495822}, issn = {2093-5609}, mesh = {Anthropology/*history ; Genetics, Medical/*history ; History, 20th Century ; *Human Migration ; Humans ; International Cooperation/*history ; Republic of Korea ; }, abstract = {Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started redrawing the ancient migratory history of human populations. A peculiarity of the Korean experience is that clinical physicians were the first experts using genetic data to theorize the historical origin of the respective population. This paper examines how South Korean physicians produced the genetic knowledge and discourse of the Korean origin in the 1970s and 1980s. It argues that transnational scientific exchange led clinical researchers to engage in global anthropological studies. The paper focuses on two scientific cooperative cases in medical genetics at the time: the West German-South Korean pharmacogenetic research on the Korean population and the Asia-Oceania Histocompatibility Workshop. At the outset, physicians introduced medical genetics into their laboratory for clinical applications. Involved in cooperative projects on investigating anthropological implications of their clinical work, medical researchers came to use their genetic data for studying the Korean origin. In the process, physicians simply followed a nationalist narrative of the Korean origin rather than criticizing it. This was partially due to their lack of serious interest in anthropological work. Their explanations about the Korean origin would be considered "scientific" while hiding their embracing of the nationalist narrative.}, }
@article {pmid31488591, year = {2019}, author = {Heitman, J}, title = {E Pluribus Unum: The Fungal Kingdom as a Rosetta Stone for Biology and Medicine.}, journal = {Genetics}, volume = {213}, number = {1}, pages = {1-7}, pmid = {31488591}, issn = {1943-2631}, support = {R01 AI050113/AI/NIAID NIH HHS/United States ; R37 AI039115/AI/NIAID NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Cryptococcus/*genetics/pathogenicity ; Genes, Mating Type, Fungal ; Genetics/*history ; *Genome, Fungal ; History, 20th Century ; History, 21st Century ; }, abstract = {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 2019 recipient is Joseph Heitman, who is recognized for his work on fungal pathogens of humans and for ingenious experiments using yeast to identify the molecular targets of widely used immunosuppressive drugs. The latter work, part of Heitman's postdoctoral research, proved to be a seminal contribution to the discovery of the conserved Target of Rapamycin (TOR) pathway. In his own research group, a recurring theme has been the linking of fundamental insights in fungal biology to medically important problems. His studies have included defining fungal mating-type loci, including their evolution and links to virulence, and illustrating convergent transitions from outcrossing to inbreeding in fungal pathogens of plants and animals. He has led efforts to establish new genetic and genomic methods for studying pathogenesis in Cryptococcus species. Heitman's group also discovered unisexual reproduction, a novel mode of fungal reproduction with implications for pathogen evolution and the origins of sexual reproduction.}, }
@article {pmid31479345, year = {2019}, author = {Gazzaniga, MS}, title = {Following Schrödinger's Code: A Personal Journey.}, journal = {Journal of cognitive neuroscience}, volume = {31}, number = {12}, pages = {1777-1781}, doi = {10.1162/jocn_e_01463}, pmid = {31479345}, issn = {1530-8898}, mesh = {Career Choice ; Cognition ; Cognitive Neuroscience/*history ; Consciousness ; Genetic Association Studies ; Genetic Code ; History, 20th Century ; History, 21st Century ; Humans ; *Information Theory ; *Life ; Molecular Biology/history ; Physics/history ; Symbolism ; United States ; }, abstract = {On a wintery afternoon over 60 years ago, I was browsing the Baker Library stacks at Dartmouth College and stumbled across a small book with an arresting title: What Is Life? [Schrödinger, E. What is Life? The physical aspect of the living cell and mind. Cambridge: Cambridge University Press, 1944]. This small volume contained numerous concepts that would transform the future of the biological sciences, giving rise to new fields, dogmas, approaches, and debates. Here, I present the core concepts of Schrödinger's book, the influence they have had on biology, and the influence they may continue to have on the cognitive neurosciences.}, }
@article {pmid31451807, year = {2019}, author = {}, title = {Five decades of eukaryotic transcription.}, journal = {Nature structural &amp; molecular biology}, volume = {26}, number = {9}, pages = {757}, doi = {10.1038/s41594-019-0303-1}, pmid = {31451807}, issn = {1545-9985}, mesh = {DNA-Directed RNA Polymerases/*genetics/*metabolism ; Eukaryota/*genetics/*metabolism ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; *Transcription, Genetic ; }, }
@article {pmid31444855, year = {2019}, author = {Ramamoorthy, A and Karnes, JH and Finkel, R and Blanchard, R and Pacanowski, M}, title = {Evolution of Next Generation Therapeutics: Past, Present, and Future of Precision Medicines.}, journal = {Clinical and translational science}, volume = {12}, number = {6}, pages = {560-563}, pmid = {31444855}, issn = {1752-8062}, mesh = {CRISPR-Cas Systems/genetics ; *Forecasting ; Genetic Therapy/history/methods/*trends ; History, 20th Century ; History, 21st Century ; Humans ; Pharmacogenetics/history/*trends ; Precision Medicine/history/methods/*trends ; }, }
@article {pmid31439942, year = {2019}, author = {Lis, JT}, title = {A 50 year history of technologies that drove discovery in eukaryotic transcription regulation.}, journal = {Nature structural &amp; molecular biology}, volume = {26}, number = {9}, pages = {777-782}, pmid = {31439942}, issn = {1545-9985}, support = {R01 GM025232/GM/NIGMS NIH HHS/United States ; }, mesh = {Biochemistry/*history/*methods ; Eukaryota/*enzymology/*genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/*methods ; *Transcription, Genetic ; }, abstract = {Transcription regulation is critical to organism development and homeostasis. Control of expression of the 20,000 genes in human cells requires many hundreds of proteins acting through sophisticated multistep mechanisms. In this Historical Perspective, I highlight the progress that has been made in elucidating eukaryotic transcriptional mechanisms through an array of disciplines and approaches, and how this concerted effort has been driven by the development of new technologies.}, }
@article {pmid31439941, year = {2019}, author = {Roeder, RG}, title = {50+ years of eukaryotic transcription: an expanding universe of factors and mechanisms.}, journal = {Nature structural &amp; molecular biology}, volume = {26}, number = {9}, pages = {783-791}, pmid = {31439941}, issn = {1545-9985}, support = {R01 CA178765/CA/NCI NIH HHS/United States ; R01 CA234575/CA/NCI NIH HHS/United States ; R01 DK071900/DK/NIDDK NIH HHS/United States ; R01 CA202245/CA/NCI NIH HHS/United States ; R01 CA204639/CA/NCI NIH HHS/United States ; R01 CA129325/CA/NCI NIH HHS/United States ; R01 CA163086/CA/NCI NIH HHS/United States ; }, mesh = {Biochemistry/*history ; Eukaryota/*enzymology/*genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Transcription Factors/*isolation &amp; purification/*metabolism ; *Transcription, Genetic ; }, abstract = {The landmark 1969 discovery of nuclear RNA polymerases I, II and III in diverse eukaryotes represented a major turning point in the field that, with subsequent elucidation of the distinct structures and functions of these enzymes, catalyzed an avalanche of further studies. In this Review, written from a personal and historical perspective, I highlight foundational biochemical studies that led to the discovery of an expanding universe of the components of the transcriptional and regulatory machineries, and a parallel complexity in gene-specific mechanisms that continue to be explored to the present day.}, }
@article {pmid31439940, year = {2019}, author = {Conaway, RC and Conaway, JW}, title = {The hunt for RNA polymerase II elongation factors: a historical perspective.}, journal = {Nature structural &amp; molecular biology}, volume = {26}, number = {9}, pages = {771-776}, doi = {10.1038/s41594-019-0283-1}, pmid = {31439940}, issn = {1545-9985}, mesh = {Biochemistry/*history ; Eukaryota/*enzymology ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA Polymerase II/*metabolism ; *Transcription, Genetic ; Transcriptional Elongation Factors/*isolation &amp; purification/*metabolism ; }, abstract = {The discovery of the three eukaryotic nuclear RNA polymerases paved the way for serious biochemical investigations of eukaryotic transcription and the identification of eukaryotic transcription factors. Here we describe this adventure from our vantage point, with a focus on the hunt for factors that regulate elongation by RNA polymerase II.}, }
@article {pmid31439939, year = {2019}, author = {Kadonaga, JT}, title = {The transformation of the DNA template in RNA polymerase II transcription: a historical perspective.}, journal = {Nature structural &amp; molecular biology}, volume = {26}, number = {9}, pages = {766-770}, pmid = {31439939}, issn = {1545-9985}, support = {R35 GM118060/GM/NIGMS NIH HHS/United States ; }, mesh = {Biochemistry/*history ; DNA/*metabolism ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA Polymerase II/*metabolism ; RNA, Messenger/*biosynthesis ; *Transcription, Genetic ; }, abstract = {The discovery of RNA polymerases I, II, and III opened up a new era in gene expression. Here I provide a personal retrospective account of the transformation of the DNA template, as it evolved from naked DNA to chromatin, in the biochemical analysis of transcription by RNA polymerase II. These studies have revealed new insights into the mechanisms by which transcription factors function with chromatin to regulate gene expression.}, }
@article {pmid31432403, year = {2019}, author = {Fernández-Irigoyen, J and Corrales, F and Santamaría, E}, title = {The Human Brain Proteome Project: Biological and Technological Challenges.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {2044}, number = {}, pages = {3-23}, doi = {10.1007/978-1-4939-9706-0_1}, pmid = {31432403}, issn = {1940-6029}, mesh = {Animals ; Biomarkers/blood/cerebrospinal fluid/metabolism ; Brain/*metabolism ; Cerebrospinal Fluid Proteins/*metabolism ; Computational Biology ; Diagnostic Imaging ; Flow Cytometry ; History, 21st Century ; Humans ; Laser Capture Microdissection ; Mass Spectrometry ; Mice ; Neurodegenerative Diseases/*cerebrospinal fluid/diagnosis/metabolism ; Proteome/*metabolism ; Proteomics/history/*methods ; }, abstract = {Brain proteomics has become a method of choice that allows zooming-in where neuropathophysiological alterations are taking place, detecting protein mediators that might eventually be measured in cerebrospinal fluid (CSF) as potential neuropathologically derived biomarkers. Following this hypothesis, mass spectrometry-based neuroproteomics has emerged as a powerful approach to profile neural proteomes derived from brain structures and CSF in order to map the extensive protein catalog of the human brain. This chapter provides a historical perspective on the Human Brain Proteome Project (HBPP), some recommendation to the experimental design in neuroproteomic projects, and a brief description of relevant technological and computational innovations that are emerging in the neurobiology field thanks to the proteomics community. Importantly, this chapter highlights recent discoveries from the biology- and disease-oriented branch of the HBPP (B/D-HBPP) focused on spatiotemporal proteomic characterizations of mouse models of neurodegenerative diseases, elucidation of proteostatic networks in different types of dementia, the characterization of unresolved clinical phenotypes, and the discovery of novel biomarker candidates in CSF.}, }
@article {pmid31430435, year = {2020}, author = {Edge, MD and Coop, G}, title = {Donnelly (1983) and the limits of genetic genealogy.}, journal = {Theoretical population biology}, volume = {133}, number = {}, pages = {23-24}, pmid = {31430435}, issn = {1096-0325}, support = {F32 GM130050/GM/NIGMS NIH HHS/United States ; R01 GM108779/GM/NIGMS NIH HHS/United States ; }, mesh = {Genetics, Population/*history ; History, 20th Century ; Humans ; Pedigree ; }, }
@article {pmid31405996, year = {2019}, author = {Weir, BS}, title = {The Summer Institute in Statistical Genetics.}, journal = {Genetics}, volume = {212}, number = {4}, pages = {955-957}, pmid = {31405996}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Statistics as Topic/*history ; United States ; }, abstract = {The Elizabeth W. Jones Award for Excellence in Education recognizes an individual or group that has had significant, sustained impact on genetics education at any level, from K-12 through graduate school and beyond. Bruce Weir (University of Washington) is the 2019 recipient in recognition of his work training thousands of researchers in the rigorous use of statistical analysis methods for genetic and genomic data. His contributions fall into three categories: the acclaimed Summer Institute in Statistical Genetics, which has been held continuously for 23 years and has trained > 10,000 researchers worldwide; the popular graduate-level textbook Genetic Data Analysis; and the training of a growing number of forensic geneticists during the rise of DNA evidence in courts around the world.}, }
@article {pmid31402018, year = {2019}, author = {Lane, R}, title = {Teri Manolio: steering genomics into clinical medicine.}, journal = {Lancet (London, England)}, volume = {394}, number = {10197}, pages = {462}, doi = {10.1016/S0140-6736(19)31682-4}, pmid = {31402018}, issn = {1474-547X}, mesh = {Female ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/*history ; National Human Genome Research Institute (U.S.) ; United States ; }, }
@article {pmid31399826, year = {2019}, author = {Mariscal, C and Barahona, A and Aubert-Kato, N and Aydinoglu, AU and Bartlett, S and Cárdenas, ML and Chandru, K and Cleland, C and Cocanougher, BT and Comfort, N and Cornish-Bowden, A and Deacon, T and Froese, T and Giovannelli, D and Hernlund, J and Hut, P and Kimura, J and Maurel, MC and Merino, N and Moreno, A and Nakagawa, M and Peretó, J and Virgo, N and Witkowski, O and James Cleaves, H}, title = {Hidden Concepts in the History and Philosophy of Origins-of-Life Studies: a Workshop Report.}, journal = {Origins of life and evolution of the biosphere : the journal of the International Society for the Study of the Origin of Life}, volume = {49}, number = {3}, pages = {111-145}, pmid = {31399826}, issn = {1573-0875}, support = {ELSI Origins Network//John Templeton Foundation/ ; }, mesh = {Biology/*history ; Chemistry/*history ; *Historiography ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Informatics/*history ; Molecular Biology/history ; *Origin of Life ; Paleontology/*history ; Philosophy/*history ; }, abstract = {In this review, we describe some of the central philosophical issues facing origins-of-life research and provide a targeted history of the developments that have led to the multidisciplinary field of origins-of-life studies. We outline these issues and developments to guide researchers and students from all fields. With respect to philosophy, we provide brief summaries of debates with respect to (1) definitions (or theories) of life, what life is and how research should be conducted in the absence of an accepted theory of life, (2) the distinctions between synthetic, historical, and universal projects in origins-of-life studies, issues with strategies for inferring the origins of life, such as (3) the nature of the first living entities (the "bottom up" approach) and (4) how to infer the nature of the last universal common ancestor (the "top down" approach), and (5) the status of origins of life as a science. Each of these debates influences the others. Although there are clusters of researchers that agree on some answers to these issues, each of these debates is still open. With respect to history, we outline several independent paths that have led to some of the approaches now prevalent in origins-of-life studies. These include one path from early views of life through the scientific revolutions brought about by Linnaeus (von Linn.), Wöhler, Miller, and others. In this approach, new theories, tools, and evidence guide new thoughts about the nature of life and its origin. We also describe another family of paths motivated by a" circularity" approach to life, which is guided by such thinkers as Maturana &amp; Varela, Gánti, Rosen, and others. These views echo ideas developed by Kant and Aristotle, though they do so using modern science in ways that produce exciting avenues of investigation. By exploring the history of these ideas, we can see how many of the issues that currently interest us have been guided by the contexts in which the ideas were developed. The disciplinary backgrounds of each of these scholars has influenced the questions they sought to answer, the experiments they envisioned, and the kinds of data they collected. We conclude by encouraging scientists and scholars in the humanities and social sciences to explore ways in which they can interact to provide a deeper understanding of the conceptual assumptions, structure, and history of origins-of-life research. This may be useful to help frame future research agendas and bring awareness to the multifaceted issues facing this challenging scientific question.}, }
@article {pmid31389364, year = {2019}, author = {Peterson, A}, title = {On Reconstruction of ancestral footfalls in South Asia using genomic data By Saikat Chakraborty and Analabha Basu.}, journal = {Journal of biosciences}, volume = {44}, number = {3}, pages = {}, pmid = {31389364}, issn = {0973-7138}, mesh = {African Continental Ancestry Group/*history ; Archaeology/methods ; Asia/ethnology ; Asian Continental Ancestry Group/*history ; Chromosomes, Human, Y/chemistry ; Culture ; DNA, Ancient/analysis ; DNA, Mitochondrial/genetics ; European Continental Ancestry Group/*history ; Female ; Genetics, Population/*history ; *Genome, Human ; Haplotypes ; History, Ancient ; Human Migration/*history ; Humans ; Linguistics/*history ; Male ; Sequence Analysis, DNA ; }, }
@article {pmid31389362, year = {2019}, author = {Pitchappan, R}, title = {On Historic migration to South Asia in the last two millennia: A case of Jewish and Parsi populations By Ajai Kumar Pathak, et al.}, journal = {Journal of biosciences}, volume = {44}, number = {3}, pages = {}, pmid = {31389362}, issn = {0973-7138}, mesh = {Archaeology/methods ; Asian Continental Ancestry Group/*history ; Culture ; DNA, Ancient/analysis ; Female ; Genetics, Population/*history ; *Genome, Human ; History, Ancient ; Human Migration/*history ; Humans ; India/ethnology ; Jews/*history ; Linguistics/*history ; Male ; Middle East/ethnology ; Sequence Analysis, DNA ; }, }
@article {pmid31389358, year = {2019}, author = {Silva, M and Koch, JT and Pala, M and Edwards, CJ and Soares, P and Richards, MB}, title = {On Methodological issues in the Indo-European debate By Michel Danino.}, journal = {Journal of biosciences}, volume = {44}, number = {3}, pages = {}, pmid = {31389358}, issn = {0973-7138}, mesh = {Archaeology/methods ; Asian Continental Ancestry Group/*history ; Culture ; DNA, Ancient/analysis ; Europe/ethnology ; European Continental Ancestry Group/*history ; Genetics, Population/*history ; History, Ancient ; Human Migration/*history ; Humans ; India/ethnology ; Linguistics/*history ; Sequence Analysis, DNA ; }, }
@article {pmid31371815, year = {2019}, author = {Berger, F}, title = {Emil Heitz, a true epigenetics pioneer.}, journal = {Nature reviews. Molecular cell biology}, volume = {20}, number = {10}, pages = {572}, doi = {10.1038/s41580-019-0161-z}, pmid = {31371815}, issn = {1471-0080}, mesh = {Animals ; *Epigenesis, Genetic ; Epigenomics/*history ; Heterochromatin/genetics ; History, 20th Century ; Humans ; Plants/genetics ; Polytene Chromosomes/genetics ; }, }
@article {pmid31368904, year = {2019}, author = {Neill, US}, title = {A conversation with Lucy Shapiro.}, journal = {The Journal of clinical investigation}, volume = {129}, number = {8}, pages = {2981-2982}, doi = {10.1172/JCI131492}, pmid = {31368904}, issn = {1558-8238}, mesh = {Developmental Biology/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid31358638, year = {2019}, author = {Azar, B}, title = {QnAs with David Reich.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {116}, number = {32}, pages = {15752-15753}, pmid = {31358638}, issn = {1091-6490}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Paleontology/*history ; }, }
@article {pmid31350311, year = {2019}, author = {}, title = {The people behind the papers - Shai Eyal and Elazar Zelzer.}, journal = {Development (Cambridge, England)}, volume = {146}, number = {14}, pages = {}, doi = {10.1242/dev.182733}, pmid = {31350311}, issn = {1477-9129}, mesh = {Animals ; Bone Development/genetics ; Bone Regeneration/genetics ; *Developmental Biology/history ; Embryo, Mammalian ; History, 20th Century ; History, 21st Century ; Israel ; *Laboratory Personnel/history ; Mice ; *Molecular Biology/history ; Spinal Cord/embryology/growth &amp; development ; }, abstract = {Most bones in the vertebrate skeleton are made in the same way - endochondrial ossification - yet they display a variety of shapes and sizes. The question of how these unique bone morphologies, including the superstructures that protrude from their surfaces, arise during development is still unclear, and the subject of a new paper in Development We caught up with first author Shai Eyal and his supervisor Elazar Zelzer, Professor in the Department of Molecular Genetics at the Weizmann Institute of Science in Rehovot, Israel, to find out more about the story.}, }
@article {pmid31344306, year = {2019}, author = {Ekong, R}, title = {In Memoriam: Emeritus Professor Sue (Margaret Susan) Povey [1942-2019].}, journal = {Human mutation}, volume = {40}, number = {10}, pages = {1627-1629}, doi = {10.1002/humu.23766}, pmid = {31344306}, issn = {1098-1004}, mesh = {*Famous Persons ; History, 20th Century ; History, 21st Century ; *Human Genetics/history ; Humans ; United Kingdom ; }, }
@article {pmid31336383, year = {2019}, author = {Shi, Y}, title = {Arnold J. Levine and my career development.}, journal = {Journal of molecular cell biology}, volume = {11}, number = {7}, pages = {546-550}, pmid = {31336383}, issn = {1759-4685}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/education/*history ; }, }
@article {pmid31321866, year = {2019}, author = {Hudgins, L}, title = {Annemarie Sommer memorial.}, journal = {American journal of medical genetics. Part A}, volume = {179}, number = {9}, pages = {1689-1690}, doi = {10.1002/ajmg.a.61287}, pmid = {31321866}, issn = {1552-4833}, mesh = {Female ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Pediatrics/*history ; }, }
@article {pmid31310653, year = {2019}, author = {Zambetti, GP}, title = {Arnie Levine and the MDM2-p53 discovery: a postdoctoral fellow's perspective.}, journal = {Journal of molecular cell biology}, volume = {11}, number = {7}, pages = {620-623}, pmid = {31310653}, issn = {1759-4685}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/education/*history ; *Proto-Oncogene Proteins c-mdm2/genetics/history/metabolism ; *Tumor Suppressor Protein p53/genetics/history/metabolism ; }, }
@article {pmid31302204, year = {2020}, author = {Louis, DN}, title = {A half century of change in diagnostic neuropathology: from the giants of yore to current brain tumor classification.}, journal = {Human pathology}, volume = {95}, number = {}, pages = {161-168}, doi = {10.1016/j.humpath.2019.06.006}, pmid = {31302204}, issn = {1532-8392}, mesh = {Biomarkers, Tumor/genetics/history ; Brain Neoplasms/classification/genetics/history/*pathology ; Diffusion of Innovation ; History, 20th Century ; History, 21st Century ; Humans ; *Neuropathology/history/trends ; Pathology, Molecular/history/trends ; *Terminology as Topic ; }, abstract = {The first issue of Human Pathology contains a laudatory review of one of the most treasured books in the history of neuropathology: Neurological Clinicopathological Conferences of the Massachusetts General Hospital, a collection of neurological cases that appeared first in the New England Journal of Medicine in the 1940s, 1950s, and 1960s. Each patient history is discussed by well-known neurologists, neurosurgeons, and neuropathologists. Review of these cases provides a framework to explore diagnostic shifts that have occurred over the past half century. Importantly, while the discussants of these cases were great diagnosticians, they were somewhat limited by the methods available to them at the time; subsequent novel technologies provided opportunities for new insights that were made by the next generation of experts. Today's pathologists (whether neuropathologists or any other pathology subspecialists) are similarly skilled at diagnosis, although their diagnoses are now more often made on biopsies (rather than autopsies) and informed by pre-operative imaging studies as well as post-operative molecular analyses. In turn, one would conclude that, even in the face of future technological changes brought about by disruptive innovations like artificial intelligence and deep molecular analyses, a need will continue for the expertise of pathologists and other clinical diagnosticians.}, }
@article {pmid31300940, year = {2019}, author = {Huneman, P}, title = {How the Modern Synthesis Came to Ecology.}, journal = {Journal of the history of biology}, volume = {52}, number = {4}, pages = {635-686}, pmid = {31300940}, issn = {1573-0387}, support = {Explabio B13 SHS OO7//Agence Nationale de la Recherche/International ; }, mesh = {*Biological Evolution ; Ecology/*history ; Genetics, Population/*history ; History, 20th Century ; Models, Biological ; *Selection, Genetic ; }, abstract = {Ecology in principle is tied to evolution, since communities and ecosystems result from evolution and ecological conditions determine fitness values (and ultimately evolution by natural selection). Yet the two disciplines of evolution and ecology were not unified in the twentieth-century. The architects of the Modern Synthesis, and especially Julian Huxley, constantly pushed for such integration, but the major ideas of the Synthesis-namely, the privileged role of selection and the key role of gene frequencies in evolution-did not directly or immediately translate into ecological science. In this paper I consider five stages through which the Synthesis was integrated into ecology and distinguish between various ways in which a possible integration was gained. I start with Elton's animal ecology (1927), then consider successively Ford's ecological genetics in the 1940s, the major textbook Principles of animal ecology edited by Allee et al. (1949), and the debates over the role of competition in population regulation in the 1950s, ending with Hutchinson's niche concept (1959) and McArthur and Wilson's Principles of Island Biogeography (1967) viewed as a formal transposition of Modern Synthesis explanatory schemes. I will emphasize the key role of founders of the Synthesis at each stage of this very nonlinear history.}, }
@article {pmid31294870, year = {2020}, author = {DeMarini, DM}, title = {The mutagenesis moonshot: The propitious beginnings of the environmental mutagenesis and genomics society.}, journal = {Environmental and molecular mutagenesis}, volume = {61}, number = {1}, pages = {8-24}, pmid = {31294870}, issn = {1098-2280}, support = {EPA999999/ImEPA/Intramural EPA/United States ; N/A//Intramural research program of the Office of Research and Development, U.S. Environmental Protection Agency, Research Triangle Park, NC 27711/International ; }, mesh = {Animals ; Environmental Exposure/*adverse effects ; *Genomics/history/methods ; Germ Cells/drug effects/metabolism/radiation effects ; History, 20th Century ; History, 21st Century ; Humans ; *Mutagenesis/drug effects/radiation effects ; Mutagenicity Tests/history/methods ; Mutagens/*toxicity ; Societies, Scientific/history ; Ultraviolet Rays/adverse effects ; X-Rays/adverse effects ; }, abstract = {A mutagenesis moonshot addressing the influence of the environment on our genetic wellbeing was launched just 2 months before astronauts landed on the moon. Its impetus included the discovery that X-rays (Muller HJ. [1927]: Science 64:84-87) and chemicals (Auerbach and Robson. [1946]: Nature 157:302) were germ-cell mutagens, the introduction of a growing number of untested chemicals into the environment after World War II, and an increasing awareness of the role of environmental pollution on human health. Due to mounting concern from influential scientists that germ-cell mutagens might be ubiquitous in the environment, Alexander Hollaender and colleagues founded in 1969 the Environmental Mutagen Society (EMS), now the Environmental Mutagenesis and Genomics Society (EMGS); Frits Sobels founded the European EMS in 1970. As Fred de Serres noted, such societies were necessary because protecting populations from environmental mutagens could not be addressed by existing scientific societies, and new multidisciplinary alliances were required to spearhead this movement. The nascent EMS gathered policy makers and scientists from government, industry, and academia who became advocates for laws requiring genetic toxicity testing of pesticides and drugs and helped implement those laws. They created an electronic database of the mutagenesis literature; established a peer-reviewed journal; promoted basic and applied research in DNA repair and mutagenesis; and established training programs that expanded the science worldwide. Despite these successes, one objective remains unfulfilled: identification of human germ-cell mutagens. After 50 years, the voyage continues, and a vibrant EMGS is needed to bring the mission to its intended target of protecting populations from genetic hazards. Environ. Mol. Mutagen. 61:8-24, 2020. © 2019 Wiley Periodicals, Inc.}, }
@article {pmid31283824, year = {2019}, author = {Hinds, PW}, title = {A paean to Arnie Levine on the occasion of his 80th birthday.}, journal = {Journal of molecular cell biology}, volume = {11}, number = {7}, pages = {544-545}, pmid = {31283824}, issn = {1759-4685}, mesh = {*Anniversaries and Special Events ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid31281071, year = {2019}, author = {Lean, OM}, title = {Chemical arbitrariness and the causal role of molecular adapters.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {78}, number = {}, pages = {101180}, doi = {10.1016/j.shpsc.2019.101180}, pmid = {31281071}, issn = {1879-2499}, mesh = {DNA/*chemistry ; History, 20th Century ; Humans ; Molecular Biology/*history ; Proteins/*chemistry ; }, abstract = {Jacques Monod (1971) argued that certain molecular processes rely critically on the property of chemical arbitrariness, which he claimed allows those processes to "transcend the laws of chemistry". It seems natural, as some philosophers have done, to interpret this in modal terms: a biological relationship is chemically arbitrary if it is possible, within the constraints of chemical "law", for that relationship to have been otherwise than it is. But while modality is certainly important for understanding chemical arbitrariness, understanding its biological role also requires an account of the concrete causal-functional features that distinguish arbitrary from non-arbitrary phenomena. In this paper I elaborate on this under-emphasised aspect by offering a general account of these features: arbitrary relations are instantiated by mechanisms that involve molecular adapters, which causally couple two properties or processes which would otherwise be uncorrelated. Additionally, adapters work by acting as intermediate rather than cooperating causes.}, }
@article {pmid31266846, year = {2019}, author = {Frank, M and Harkess, A and Washburn, J}, title = {James A. Birchler.}, journal = {The Plant cell}, volume = {31}, number = {10}, pages = {2277-2280}, pmid = {31266846}, issn = {1532-298X}, mesh = {Chromosomes/*genetics ; Chromosomes, Artificial ; Gene Dosage ; Genetics/*history ; Genomics ; History, 20th Century ; History, 21st Century ; Teaching/psychology ; Universities ; Zea mays/*genetics ; }, }
@article {pmid31262965, year = {2019}, author = {Kumar, P and Nagarajan, A and Uchil, PD}, title = {Electroporation.}, journal = {Cold Spring Harbor protocols}, volume = {2019}, number = {7}, pages = {}, doi = {10.1101/pdb.top096271}, pmid = {31262965}, issn = {1559-6095}, mesh = {Electroporation/history/*methods ; *Gene Transfer Techniques/history ; History, 20th Century ; History, 21st Century ; Molecular Biology/history/*methods ; }, abstract = {Electroporation is a process in which brief electrical pulses create transient pores in the plasma membrane that allow nucleic acids to enter the cellular cytoplasm. Here, we provide information on the history, mechanism, and optimization of electroporation. We also describe nucleofection, an improvement of the electroporation technology that permits the introduction of nucleic acids directly into the nucleus.}, }
@article {pmid31251384, year = {2019}, author = {Buchan, DWA and Jones, DT}, title = {The PSIPRED Protein Analysis Workbench: 20 years on.}, journal = {Nucleic acids research}, volume = {47}, number = {W1}, pages = {W402-W407}, pmid = {31251384}, issn = {1362-4962}, support = {BB/M011712/1/BB_/Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Amino Acid Sequence ; Binding Sites ; Gene Ontology/history/*trends ; History, 21st Century ; Internet ; Models, Molecular ; Molecular Sequence Annotation/history/*methods ; Protein Binding ; Protein Conformation, alpha-Helical ; Protein Conformation, beta-Strand ; Protein Interaction Domains and Motifs ; Proteins/*chemistry/history ; Sequence Alignment ; Sequence Homology, Amino Acid ; Software/*history ; }, abstract = {The PSIPRED Workbench is a web server offering a range of predictive methods to the bioscience community for 20 years. Here, we present the work we have completed to update the PSIPRED Protein Analysis Workbench and make it ready for the next 20 years. The main focus of our recent website upgrade work has been the acceleration of analyses in the face of increasing protein sequence database size. We additionally discuss any new software, the new hardware infrastructure, our webservices and web site. Lastly we survey updates to some of the key predictive algorithms available through our website.}, }
@article {pmid31247683, year = {2019}, author = {Hickey, J and Hill, WG and Blasco, A and Cameron, N and Cullis, B and McGuirk, B and Mäntysaari, E and Ruane, J and Simm, G and Veerkamp, R and Visscher, PM and Wray, NR}, title = {Students', colleagues' and research partners' experience about work and accomplishments from collaborating with Robin Thompson.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {136}, number = {4}, pages = {301-309}, doi = {10.1111/jbg.12418}, pmid = {31247683}, issn = {1439-0388}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Intersectoral Collaboration ; *Research ; Statistics as Topic/*history ; *Students ; }, }
@article {pmid31240243, year = {2019}, author = {}, title = {Spotlight On Early Career Researchers: an interview with Lovorka Stojic.}, journal = {Communications biology}, volume = {2}, number = {}, pages = {204}, doi = {10.1038/s42003-019-0466-7}, pmid = {31240243}, issn = {2399-3642}, mesh = {Career Choice ; History, 21st Century ; Humans ; Molecular Biology/history/*methods/*trends ; Neoplasms/*metabolism ; RNA/metabolism ; *RNA, Long Noncoding ; Transcriptome ; }, abstract = {Dr. Lovorka Stojic is a postdoctoral research fellow at the University of Cambridge and will start her own research group at the Barts Cancer Institute this fall. Her research focuses on understanding how long noncoding RNAs and RNA-binding proteins regulate key cellular processes and how dysregulation of these processes can contribute to human diseases such as cancer. As part of our series on early-career researchers, we asked Dr. Stojic to tell us about her research and career path. She also shares her challenges from juggling between multiple roles and advice for job applications.}, }
@article {pmid31238325, year = {2019}, author = {Haaf, T and Nanda, I}, title = {A Note from the New Editor.}, journal = {Cytogenetic and genome research}, volume = {158}, number = {2}, pages = {55}, doi = {10.1159/000501440}, pmid = {31238325}, issn = {1424-859X}, mesh = {Animals ; *Cytogenetics/history/standards/trends ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history/standards/*trends ; }, }
@article {pmid31235311, year = {2019}, author = {Albert, DM}, title = {Clyde E. Keeler: The Rodless Mouse and the Early Days of Retinal Genetic Research.}, journal = {Ophthalmology. Retina}, volume = {3}, number = {9}, pages = {716-723}, doi = {10.1016/j.oret.2019.04.019}, pmid = {31235311}, issn = {2468-6530}, support = {P30 EY010572/EY/NEI NIH HHS/United States ; }, mesh = {Animals ; Cyclic Nucleotide Phosphodiesterases, Type 6/genetics ; Eugenics/history ; Eye Abnormalities/*history ; Genetic Research/*history ; History, 20th Century ; Humans ; *Mice, Mutant Strains ; Ophthalmology/*history ; *Retinal Rod Photoreceptor Cells ; Retinitis Pigmentosa/genetics/history ; }, abstract = {PURPOSE: To report the lifetime activities and accomplishments of Clyde E. Keeler (1900-1994), a pioneer in the study of retinal genetics.<br><br>DESIGN: Retrospective review.<br><br>METHODS: Assessment of published and unpublished biographical material.<br><br>RESULTS: Nearly a century ago, Keeler discovered an inherited abnormality in the mouse that causes the absence of rod photoreceptors and is the mouse counterpart of 1 type of human retinitis pigmentosa.<br><br>CONCLUSIONS: In 1923, Keeler serendipitously discovered the so-called rodless mouse, which is now known to be the result of a mutation in the PDEGB gene. The historical name for the mouse strain is rd. This same defect was reported in human patients with retinitis pigmentosa in 1993. Keeler's mouse model is still used in gene therapy studies seeking to cure retinitis pigmentosa.}, }
@article {pmid31231390, year = {2019}, author = {Bodmer, W}, title = {Ruggero Ceppellini: A Perspective on His Contributions to Genetics and Immunology.}, journal = {Frontiers in immunology}, volume = {10}, number = {}, pages = {1280}, pmid = {31231390}, issn = {1664-3224}, mesh = {Allergy and Immunology/*history ; HLA Antigens/*genetics/*immunology ; History, 20th Century ; Human Genetics/*history ; Humans ; }, abstract = {Ruggero Ceppellini, who died at the age of 71 in 1988, was one of the most stimulating and original human geneticists of his generation (1). Ceppellini's outstanding contributions to the genetics of the human blood groups, immunoglobulin allotypes and the HLA system epitomize the study of immunogenetics. By using his considerable skills and insights to unravel the interpretation of the serological data, he made significant contributions to immunology. He is remembered especially for his incisive contributions to the development of the genetics of the HLA system and its nomenclature, including, in particular, his introduction of the term "haplotype," now widely used by geneticists throughout the world, most of whom are unlikely to be aware of its origins.}, }
@article {pmid31204695, year = {2019}, author = {Szabó, AT and Poczai, P}, title = {The emergence of genetics from Festetics' sheep through Mendel's peas to Bateson's chickens.}, journal = {Journal of genetics}, volume = {98}, number = {2}, pages = {}, pmid = {31204695}, issn = {0973-7731}, mesh = {Animals ; Breeding ; Chickens/*genetics ; Genetics/*history ; Genetics, Population ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Peas/*genetics ; Sheep/*genetics ; }, abstract = {It is now common knowledge-but also a misbelief-that in 1905 William Bateson coined the term 'genetics' for the first time in his letter to Adam Sedgwick. This important term was already formulated 81 years ago in a paper written by a sheepbreeding noble called Imre (Emmerich) Festetics, who still remains somewhat mysterious even today. The articles written by Festetics summarized the results of a series of lasting and elegant breeding experiments he had conducted on his own property. Selecting the best rams, Festetics had painstakingly crossed and backcrossed his best sheep to reach better wool quality. These experiments later turned out to reveal a better understanding of inheritance outlining genetics as a new branch of natural sciences.}, }
@article {pmid31192450, year = {2019}, author = {Drineas, P and Tsetsos, F and Plantinga, A and Lazaridis, I and Yannaki, E and Razou, A and Kanaki, K and Michalodimitrakis, M and Perez-Jimenez, F and De Silvestro, G and Renda, MC and Stamatoyannopoulos, JA and Kidd, KK and Browning, BL and Paschou, P and Stamatoyannopoulos, G}, title = {Genetic history of the population of Crete.}, journal = {Annals of human genetics}, volume = {83}, number = {6}, pages = {373-388}, pmid = {31192450}, issn = {1469-1809}, support = {4386//NSRF 2007-2013 ARISTEIA II Programme/International ; //Lucille P. Markey Charitable Trust/International ; P01 GM099568/GM/NIGMS NIH HHS/United States ; //Sangamo Biosciences/International ; IIS-1319280//Division of Information and Intelligent Systems/International ; R01 HG008359/HG/NHGRI NIH HHS/United States ; IIS-1661760//Division of Information and Intelligent Systems/International ; DGE-1256082//Division of Graduate Education/International ; }, mesh = {Crosses, Genetic ; Databases, Genetic ; Ethnic Groups/genetics ; European Continental Ancestry Group/*genetics/history ; Genetic Variation ; *Genetics, Population/history ; Genome, Human ; Genomics/methods ; Genotype ; Geography ; Greece ; History, Medieval ; Human Migration ; Humans ; }, abstract = {The medieval history of several populations often suffers from scarcity of contemporary records resulting in contradictory and sometimes biased interpretations by historians. This is the situation with the population of the island of Crete, which remained relatively undisturbed until the Middle Ages when multiple wars, invasions, and occupations by foreigners took place. Historians have considered the effects of the occupation of Crete by the Arabs (in the 9th and 10th centuries C.E.) and the Venetians (in the 13th to the 17th centuries C.E.) to the local population. To obtain insights on such effects from a genetic perspective, we studied representative samples from 17 Cretan districts using the Illumina 1 million or 2.5 million arrays and compared the Cretans to the populations of origin of the medieval conquerors and settlers. Highlights of our findings include (1) small genetic contributions from the Arab occupation to the extant Cretan population, (2) low genetic contribution of the Venetians to the extant Cretan population, and (3) evidence of a genetic relationship among the Cretans and Central, Northern, and Eastern Europeans, which could be explained by the settlement in the island of northern origin tribes during the medieval period. Our results show how the interaction between genetics and the historical record can help shed light on the historical record.}, }
@article {pmid31189910, year = {2019}, author = {Woollard, A}, title = {100 years of genetics.}, journal = {Heredity}, volume = {123}, number = {1}, pages = {1-3}, doi = {10.1038/s41437-019-0230-2}, pmid = {31189910}, issn = {1365-2540}, mesh = {Animals ; Brassicaceae/genetics ; Drosophila/genetics ; Genetic Linkage ; Genetics/*history ; History, 20th Century ; Humans ; Intelligence/genetics ; Societies, Scientific/*history ; Streptomyces/genetics ; }, }
@article {pmid31189904, year = {2019}, author = {van Heyningen, V}, title = {Genome sequencing-the dawn of a game-changing era.}, journal = {Heredity}, volume = {123}, number = {1}, pages = {58-66}, pmid = {31189904}, issn = {1365-2540}, mesh = {Animals ; Blotting, Southern ; Caenorhabditis elegans/genetics ; Chromosome Mapping/methods ; Computational Biology/*methods ; Genetic Predisposition to Disease ; Genome ; Genomics/history/*methods ; History, 20th Century ; *Human Genome Project ; Humans ; Sequence Analysis, DNA/methods ; }, abstract = {The development of genome sequencing technologies has revolutionized the biological sciences in ways which could not have been imagined at the time. This article sets out to document the dawning of the age of genomics and to consider the impact of this revolution on biological investigation, our understanding of life, and the relationship between science and society.}, }
@article {pmid31189901, year = {2019}, author = {Hurst, LD}, title = {A century of bias in genetics and evolution.}, journal = {Heredity}, volume = {123}, number = {1}, pages = {33-43}, pmid = {31189901}, issn = {1365-2540}, support = {ERC-2014-ADG 669207//EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: "Ideas" Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013))/International ; }, mesh = {Alleles ; Animals ; *Biological Evolution ; Eukaryotic Cells ; Gene Conversion ; Genetic Fitness ; Genetics/*history ; Heredity/*genetics ; History, 20th Century ; Mammals/genetics ; Models, Genetic ; *Selection, Genetic ; }, abstract = {Mendel proposed that the heritable material is particulate and that transmission of alleles is unbiased. An assumption of unbiased transmission was necessary to show how variation can be preserved in the absence of selection, so overturning an early objection to Darwinism. In the second half of the twentieth century, it was widely recognised that even strongly deleterious alleles can invade if they have strongly biased transmission (i.e. strong segregation distortion). The spread of alleles with distorted segregation can explain many curiosities. More recently, the selectionist-neutralist duopoly was broken by the realisation that biased gene conversion can explain phenomena such as mammalian isochore structures. An initial focus on unbiased transmission in 1919, has thus given way to an interest in biased transmission in 2019. A focus on very weak bias is now possible owing to technological advances, although technical biases may put a limit on resolving power. To understand the relevance of weak bias we could profit from having the concept of the effectively Mendelian allele, a companion to the effectively neutral allele. Understanding the implications of unbiased and biased transmission may, I suggest, be a good way to teach evolution so as to avoid psychological biases.}, }
@article {pmid31182939, year = {2019}, author = {Soriano, V}, title = {Jérôme Lejeune passed away 25 years ago.}, journal = {Hereditas}, volume = {156}, number = {}, pages = {18}, pmid = {31182939}, issn = {1601-5223}, mesh = {Gene Editing ; Genetic Diseases, Inborn/*diagnosis/*genetics/history/therapy ; Genetic Testing/ethics/methods ; Genetic Therapy/ethics/methods ; History, 20th Century ; *Human Genetics/ethics/history ; Humans ; }, }
@article {pmid31180051, year = {2019}, author = {DI Felice, F and Micheli, G and Camilloni, G}, title = {Restriction enzymes and their use in molecular biology: An overview.}, journal = {Journal of biosciences}, volume = {44}, number = {2}, pages = {}, pmid = {31180051}, issn = {0973-7138}, mesh = {CRISPR-Cas Systems ; Chromatin/chemistry/metabolism ; Chromosome Mapping/*history/methods ; Cloning, Molecular/*methods ; DNA/chemistry/genetics/*history/metabolism ; DNA Methylation ; DNA Restriction Enzymes/genetics/*history/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history/methods ; Nobel Prize ; Nucleotide Mapping/*history/methods ; Transcription Activator-Like Effector Nucleases/genetics/history/metabolism ; }, abstract = {Restriction enzymes have been identified in the early 1950s of the past century and have quickly become key players in the molecular biology of DNA. Forty years ago, the scientists whose pioneering work had explored the activity and sequence specificity of these enzymes, contributing to the definition of their enormous potential as tools for DNA characterization, mapping and manipulation, were awarded the Nobel Prize. In this short review, we celebrate the history of these enzymes in the light of their many different uses, as these proteins have accompanied the history of DNA for over 50 years representing active witnesses of major steps in the field.}, }
@article {pmid31167898, year = {2019}, author = {Andrew, DJ and Chen, EH and Manoli, DS and Ryner, LC and Arbeitman, MN}, title = {Sex and the Single Fly: A Perspective on the Career of Bruce S. Baker.}, journal = {Genetics}, volume = {212}, number = {2}, pages = {365-376}, pmid = {31167898}, issn = {1943-2631}, support = {R01 DE013899/DE/NIDCR NIH HHS/United States ; R01 GM073039/GM/NIGMS NIH HHS/United States ; R01 GM116998/GM/NIGMS NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Animals ; Dosage Compensation, Genetic ; Drosophila/*genetics ; Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mentors ; Sex Determination Processes/*genetics ; Sexual Behavior ; }, abstract = {Bruce Baker, a preeminent Drosophila geneticist who made fundamental contributions to our understanding of the molecular genetic basis of sex differences, passed away July 1, 2018 at the age of 72. Members of Bruce's laboratory remember him as an intensely dedicated, rigorous, creative, deep-thinking, and fearless scientist. His trainees also remember his strong commitment to teaching students at every level. Bruce's career studying sex differences had three major epochs, where the laboratory was focused on: (1) sex determination and dosage compensation, (2) the development of sex-specific structures, and (3) the molecular genetic basis for sex differences in behavior. Several members of the Baker laboratory have come together to honor Bruce by highlighting some of the laboratory's major scientific contributions in these areas.}, }
@article {pmid31167897, year = {2019}, author = {L Hartl, D}, title = {Q &amp; A with Daniel L. Hartl, Recipient of the 2019 Thomas Hunt Morgan Medal.}, journal = {Genetics}, volume = {212}, number = {2}, pages = {361-363}, pmid = {31167897}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Biometry ; Cytological Techniques/history ; Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mentors ; Societies, Scientific ; United States ; }, abstract = {The Genetics Society of America's Thomas Hunt Morgan Medal honors researchers for lifetime achievement in genetics. The recipient of the 2019 Morgan Medal is Daniel Hartl of Harvard University, who is recognized for his influential and diverse contributions to genetics research. The unifying theme of Hartl's broad impacts on transmission, population, evolutionary, and medical genetics has been the combination of theoretical insights with cutting-edge experimental techniques. Some of his contributions include revealing the genetics of segregation distortion, developing statistical frameworks for estimating the effects of selection, application of these frameworks to natural and experimental populations, discovery of the mariner transposon and its influence on genome evolution, insights into the evolution of gene expression differences, and modeling the evolution of malaria parasite populations. Hartl is also known as a supportive mentor who has trained many prominent geneticists that continue to shape the field.}, }
@article {pmid31144087, year = {2019}, author = {Sukumaran, S and Sebastian, W and Francis, KX and Gopalakrishnan, A}, title = {Contemporary and historic patterns of intraspecific diversity in Indian anchovy, Stolephorus indicus, from Indian peninsular waters.}, journal = {Genetica}, volume = {147}, number = {3-4}, pages = {259-267}, pmid = {31144087}, issn = {1573-6857}, mesh = {Adenosine Triphosphatases/genetics ; Animals ; Bayes Theorem ; DNA, Mitochondrial ; Demography ; Fishes/classification/*genetics ; Gene Flow ; Genetic Variation ; Genetics, Population/history ; Haplotypes ; History, Ancient ; Indian Ocean ; Mitochondria/genetics ; Sequence Analysis, DNA ; }, abstract = {We analyzed intraspecific diversity of Indian anchovy, Stolephorus indicus, a commercially and ecologically important species, using mitochondrial DNA markers so as to derive insights into population structuring and historical demography. Analyses were carried out on 128 and 138 individuals collected from 5 locations along the range of distribution using mitochondrial ATPase (843 bp) and COI (663 bp) sequences respectively. Significant connectivity and gene flow was detected among fishes collected from all the geographic locations as indicated by lack of structuring in Bayesian clustering analysis along with insignificant ΦST values. Oceanographic features of the Bay of Bengal, Arabian Sea and Andaman Sea may be favorable for the dispersal of anchovy larvae and subsequent gene flow. Historical demographic analyses indicated a demographic and spatial expansion taken place approximately during 125,000 years before present, the Pleistocene epoch. Indian Ocean witnessed emergence of upwelling events and consequent increase in productivity during the Pleistocene epoch causing a demographic and spatial expansion of anchovies. Management measures for this species should be devised considering it as a single stock along its entire range of distribution.}, }
@article {pmid31142179, year = {2019}, author = {Tanimoto, H and Wu, CF}, title = {Comparative behavioral genetics: the Yamamoto approach.}, journal = {Journal of neurogenetics}, volume = {33}, number = {2}, pages = {41-43}, doi = {10.1080/01677063.2019.1616720}, pmid = {31142179}, issn = {1563-5260}, mesh = {Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Japan ; }, }
@article {pmid31140673, year = {2019}, author = {Muenke, M}, title = {Onward and upward.}, journal = {American journal of medical genetics. Part A}, volume = {179}, number = {7}, pages = {1119-1121}, doi = {10.1002/ajmg.a.61207}, pmid = {31140673}, issn = {1552-4833}, mesh = {*Editorial Policies ; Genetic Diseases, Inborn/*diagnosis/pathology/therapy ; Genetics, Medical/history/methods/*trends ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic ; }, }
@article {pmid31123709, year = {2019}, author = {Kashuba, N and Kırdök, E and Damlien, H and Manninen, MA and Nordqvist, B and Persson, P and Götherström, A}, title = {Ancient DNA from mastics solidifies connection between material culture and genetics of mesolithic hunter-gatherers in Scandinavia.}, journal = {Communications biology}, volume = {2}, number = {}, pages = {185}, pmid = {31123709}, issn = {2399-3642}, mesh = {Anthropology, Cultural/history ; Betula/chemistry ; Chewing Gum/history ; DNA, Ancient/*isolation &amp; purification ; DNA, Mitochondrial/genetics/history ; Genetics, Population/history ; History, Ancient ; Human Migration/history ; Humans ; Mastic Resin/history ; Resins, Plant/history ; Scandinavian and Nordic Countries ; }, abstract = {Human demography research in grounded on the information derived from ancient DNA and archaeology. For example, the study on the early postglacial dual-route colonisation of the Scandinavian Peninsula is largely based on associating genomic data with the early dispersal of lithic technology from the East European Plain. However, a clear connection between material culture and genetics has been lacking. Here, we demonstrate that direct connection by analysing human DNA from chewed birch bark pitch mastics. These samples were discovered at Huseby Klev in western Sweden, a Mesolithic site with eastern lithic technology. We generated genome-wide data for three individuals, and show their affinity to the Scandinavian hunter-gatherers. Our samples date to 9880-9540 calBP, expanding the temporal range and distribution of the early Scandinavian genetic group. We propose that DNA from ancient mastics can be used to study environment and ecology of prehistoric populations.}, }
@article {pmid31112322, year = {2019}, author = {Saleh, MC}, title = {Interview: Maria-Carla Saleh.}, journal = {Cellular microbiology}, volume = {21}, number = {8}, pages = {e13061}, pmid = {31112322}, issn = {1462-5822}, mesh = {Animals ; Argentina ; France ; History, 20th Century ; History, 21st Century ; Humans ; Insecta/*immunology/virology ; Molecular Biology/*history ; Virology/*history ; }, }
@article {pmid31101932, year = {2019}, author = {Aktories, K and Gierschik, P and Heringdorf, DMZ and Schmidt, M and Schultz, G and Wieland, T}, title = {cAMP guided his way: a life for G protein-mediated signal transduction and molecular pharmacology-tribute to Karl H. Jakobs.}, journal = {Naunyn-Schmiedeberg's archives of pharmacology}, volume = {392}, number = {8}, pages = {887-911}, pmid = {31101932}, issn = {1432-1912}, mesh = {Cyclic AMP/*physiology ; GTP-Binding Proteins/*history/*physiology ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Signal Transduction/physiology ; }, abstract = {Karl H. Jakobs, former editor-in-chief of Naunyn-Schmiedeberg's Archives of Pharmacology and renowned molecular pharmacologist, passed away in April 2018. In this article, his scientific achievements regarding G protein-mediated signal transduction and regulation of canonical pathways are summarized. Particularly, the discovery of inhibitory G proteins for adenylyl cyclase, methods for the analysis of receptor-G protein interactions, GTP supply by nucleoside diphosphate kinases, mechanisms in phospholipase C and phospholipase D activity regulation, as well as the development of the concept of sphingosine-1-phosphate as extra- and intracellular messenger will presented. His seminal scientific and methodological contributions are put in a general and timely perspective to display and honor his outstanding input to the current knowledge in molecular pharmacology.}, }
@article {pmid31098759, year = {2019}, author = {McConwell, AK}, title = {Walking the Line: A Tempered View of Contingency and Convergence in Life's History : Review of Jonathan B. Losos: Improbable Destinies: Fate, Chance, and the Future of Evolution (2017).}, journal = {Acta biotheoretica}, volume = {67}, number = {3}, pages = {253-264}, doi = {10.1007/s10441-019-09347-x}, pmid = {31098759}, issn = {1572-8358}, mesh = {*Adaptation, Biological ; *Biological Evolution ; Genetics/*history ; History, 21st Century ; Humans ; *Models, Theoretical ; *Selection, Genetic ; United States ; }, }
@article {pmid31080177, year = {2019}, author = {Cook-Deegan, R and McCormack, SJ}, title = {LeRoy Walters's Legacy of Bioethics in Genetics and Biotechnology Policy.}, journal = {Kennedy Institute of Ethics journal}, volume = {29}, number = {1}, pages = {51-66}, doi = {10.1353/ken.2019.0010}, pmid = {31080177}, issn = {1086-3249}, mesh = {Academies and Institutes/ethics ; Advisory Committees/ethics/history/legislation &amp; jurisprudence ; *Bioethical Issues ; *Bioethics ; Biotechnology/*ethics/history/trends ; DNA, Recombinant/history ; Federal Government ; Genetic Therapy/ethics/history/legislation &amp; jurisprudence ; Genetics/*ethics/legislation &amp; jurisprudence ; Guidelines as Topic ; History, 20th Century ; History, 21st Century ; Human Genome Project/ethics/history/legislation &amp; jurisprudence ; Humans ; Legislation as Topic ; Male ; Public Policy/history/legislation &amp; jurisprudence ; United States ; }, abstract = {LeRoy Walters was at the center of public debate about emerging biological technologies, even as "biotechnology" began to take root. He chaired advisory panels on human gene therapy, the human genome project, and patenting DNA for the congressional Office of Technology Assessment. He chaired the subcommittee on Human Gene Therapy for NIH's Recombinant DNA Advisory Committee. He was also a regular advisor to Congress, the executive branch, and academics concerned about policy governing emerging biotechnologies. In large part due to Prof. Walters, the Kennedy Institute of Ethics was one of the primary sources of talent in bioethics, including staff who populated policy and science agencies dealing with reproductive and genetic technologies, such as NIH and OTA. His legacy lies not only in his writings, but in those people, documents, and discussions that guided biotechnology policy in the United States for three decades.}, }
@article {pmid31057159, year = {2019}, author = {O'Mahony, S}, title = {After the golden age: what is medicine for?.}, journal = {Lancet (London, England)}, volume = {393}, number = {10183}, pages = {1798-1799}, doi = {10.1016/S0140-6736(19)30901-8}, pmid = {31057159}, issn = {1474-547X}, mesh = {Epidemiology ; Evidence-Based Medicine ; Female ; *History of Medicine ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; Longevity ; Medical Overuse/statistics &amp; numerical data ; Medicine/*statistics &amp; numerical data/trends ; Physicians/*history ; }, }
@article {pmid31053614, year = {2019}, author = {Borinskaya, SA and Ermolaev, AI and Kolchinsky, EI}, title = {Lysenkoism Against Genetics: The Meeting of the Lenin All-Union Academy of Agricultural Sciences of August 1948, Its Background, Causes, and Aftermath.}, journal = {Genetics}, volume = {212}, number = {1}, pages = {1-12}, pmid = {31053614}, issn = {1943-2631}, mesh = {Animals ; *Biological Evolution ; Genetics/*history ; Heredity ; History, 20th Century ; Plants/genetics ; USSR ; }, abstract = {Progress in genetics and evolutionary biology in the young Union of Soviet Socialist Republics (USSR) was hindered in the 1930s by the agronomist Trofim Lysenko, who believed that acquired traits are inherited, claimed that heredity can be changed by "educating" plants, and denied the existence of genes. Lysenko was supported by Communist Party elites. Lysenko termed his set of ideas and agricultural techniques "Michurinism," after the name of the plant breeder Ivan Michurin, but they are currently known as Lysenkoism. Although Michurinism opposed biological science, Lysenko took up one academic position after another. In 1929, Nikolai Vavilov founded the Lenin All-Union Academy of Agricultural Sciences and became its head; it directed the development of sciences underpinning plant and animal breeding in the Soviet Union. Vavilov was dismissed in 1935 and later died in prison, while Lysenko occupied his position. The triumph of Lysenkoism became complete and genetics was fully defeated in August 1948 at a session of the academy headed by Lysenko. The session was personally directed by Joseph Stalin and marked the USSR's commitment to developing a national science, separated from the global scientific community. As a result, substantial losses occurred in Soviet agriculture, genetics, evolutionary theory, and molecular biology, and the transmission of scientific values and traditions between generations was interrupted. This article reviews the ideological, political, economic, social, cultural, personal, moral, and ethical factors that influenced the August 1948 session, and its immediate and later consequences. We also outline current attempts to revise the role of the August session and whitewash Lysenko.}, }
@article {pmid31050681, year = {2019}, author = {Bi, K and Linderoth, T and Singhal, S and Vanderpool, D and Patton, JL and Nielsen, R and Moritz, C and Good, JM}, title = {Temporal genomic contrasts reveal rapid evolutionary responses in an alpine mammal during recent climate change.}, journal = {PLoS genetics}, volume = {15}, number = {5}, pages = {e1008119}, pmid = {31050681}, issn = {1553-7404}, support = {S10 RR029668/RR/NCRR NIH HHS/United States ; S10 RR027303/RR/NCRR NIH HHS/United States ; R01 HD073439/HD/NICHD NIH HHS/United States ; T32 HG000047/HG/NHGRI NIH HHS/United States ; R01 GM098536/GM/NIGMS NIH HHS/United States ; }, mesh = {Adaptation, Physiological/*genetics ; Alleles ; Altitude ; Animal Distribution ; Animals ; Arachidonate 15-Lipoxygenase/*genetics ; Biological Evolution ; Climate Change ; Gene Expression ; Gene Flow ; Gene Frequency ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; Hypoxia/genetics ; Sciuridae/classification/*genetics ; Species Specificity ; Whole Exome Sequencing ; }, abstract = {Many species have experienced dramatic changes in their abundance and distribution during recent climate change, but it is often unclear whether such ecological responses are accompanied by evolutionary change. We used targeted exon sequencing of 294 museum specimens (160 historic, 134 modern) to generate independent temporal genomic contrasts spanning a century of climate change (1911-2012) for two co-distributed chipmunk species: an endemic alpine specialist (Tamias alpinus) undergoing severe range contraction and a stable mid-elevation species (T. speciosus). Using a novel analytical approach, we reconstructed the demographic histories of these populations and tested for evidence of recent positive directional selection. Only the retracting species showed substantial population genetic fragmentation through time and this was coupled with positive selection and substantial shifts in allele frequencies at a gene, Alox15, involved in regulation of inflammation and response to hypoxia. However, these rapid population and gene-level responses were not detected in an analogous temporal contrast from another area where T. alpinus has also undergone severe range contraction. Collectively, these results highlight that evolutionary responses may be variable and context dependent across populations, even when they show seemingly synchronous ecological shifts. Our results demonstrate that temporal genomic contrasts can be used to detect very recent evolutionary responses within and among contemporary populations, even in the face of complex demographic changes. Given the wealth of specimens archived in natural history museums, comparative analyses of temporal population genomic data have the potential to improve our understanding of recent and ongoing evolutionary responses to rapidly changing environments.}, }
@article {pmid31050142, year = {2019}, author = {Wasant, P and Padilla, C and Lam, S and Thong, MK and Lai, PS}, title = {Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {181}, number = {2}, pages = {155-165}, doi = {10.1002/ajmg.c.31701}, pmid = {31050142}, issn = {1552-4876}, mesh = {Asia ; Biomedical Research ; *Genetic Diseases, Inborn ; History, 20th Century ; History, 21st Century ; Human Genetics/history/methods/*organization &amp; administration/trends ; Humans ; *Intersectoral Collaboration ; Societies, Medical/*history ; }, abstract = {Putting together the reports in this issue that come from a representation of the different countries in Asia presents an opportunity to share the unique story of the Asia Pacific Society of Human Genetics (APSHG), which has provided the authors of many of these articles. This paper, authored by the Past Presidents of the Society, shares glimpses of how medical genetics activities were first organized in the Asia Pacific region and provides interesting corollaries on how under-developed and developing countries in this part of the world had developed a unique network for exchange and sharing of expertise and resources. Although APSHG was formally registered as a Society in Singapore in 2006, the Society has its origins as far back as in the 1990s with members from different countries meeting informally, exchanging ideas, and collaborating. This treatise documents the story of the experiences of the Society and hopes it will provide inspiration on how members of a genetics community can foster and build a thriving environment to promote this field.}, }
@article {pmid31028774, year = {2019}, author = {Thieffry, D and Kaufman, M}, title = {Prologue to the special issue of JTB dedicated to the memory of René Thomas (1928-2017): A journey through biological circuits, logical puzzles and complex dynamics.}, journal = {Journal of theoretical biology}, volume = {474}, number = {}, pages = {42-47}, doi = {10.1016/j.jtbi.2019.04.021}, pmid = {31028774}, issn = {1095-8541}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; *Models, Biological ; Molecular Biology/*history ; Portraits as Topic ; }, }
@article {pmid31010305, year = {2019}, author = {Papp, Z}, title = {[Dr. Éva Oláh (1943-2019)].}, journal = {Orvosi hetilap}, volume = {160}, number = {17}, pages = {643-645}, doi = {10.1556/650.2019.31500}, pmid = {31010305}, issn = {1788-6120}, mesh = {Female ; General Surgery/education/*history ; Genetics, Medical/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30986087, year = {2019}, author = {Dobson, CM}, title = {Biophysical Techniques in Structural Biology.}, journal = {Annual review of biochemistry}, volume = {88}, number = {}, pages = {25-33}, doi = {10.1146/annurev-biochem-013118-111947}, pmid = {30986087}, issn = {1545-4509}, mesh = {Chemistry, Analytic/history ; Cryoelectron Microscopy/history/instrumentation/*methods ; Crystallography, X-Ray/history/instrumentation/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Lasers/history ; Magnetic Resonance Spectroscopy/history/instrumentation/*methods ; Mass Spectrometry/history/instrumentation/*methods ; Molecular Biology/history/instrumentation/*methods ; Nucleic Acids/chemistry/ultrastructure ; Proteins/chemistry/ultrastructure ; }, abstract = {Over the past six decades, steadily increasing progress in the application of the principles and techniques of the physical sciences to the study of biological systems has led to remarkable insights into the molecular basis of life. Of particular significance has been the way in which the determination of the structures and dynamical properties of proteins and nucleic acids has so often led directly to a profound understanding of the nature and mechanism of their functional roles. The increasing number and power of experimental and theoretical techniques that can be applied successfully to living systems is now ushering in a new era of structural biology that is leading to fundamentally new information about the maintenance of health, the origins of disease, and the development of effective strategies for therapeutic intervention. This article provides a brief overview of some of the most powerful biophysical methods in use today, along with references that provide more detailed information about recent applications of each of them. In addition, this article acts as an introduction to four authoritative reviews in this volume. The first shows the ways that a multiplicity of biophysical methods can be combined with computational techniques to define the architectures of complex biological systems, such as those involving weak interactions within ensembles of molecular components. The second illustrates one aspect of this general approach by describing how recent advances in mass spectrometry, particularly in combination with other techniques, can generate fundamentally new insights into the properties of membrane proteins and their functional interactions with lipid molecules. The third reviewdemonstrates the increasing power of rapidly evolving diffraction techniques, employing the very short bursts of X-rays of extremely high intensity that are now accessible as a result of the construction of free-electron lasers, in particular to carry out time-resolved studies of biochemical reactions. The fourth describes in detail the application of such approaches to probe the mechanism of the light-induced changes associated with bacteriorhodopsin's ability to convert light energy into chemical energy.}, }
@article {pmid30968456, year = {2019}, author = {Mason, CA and Sherman, SM}, title = {Editorial: Introduction to the special issue in honor of Ray Guillery.}, journal = {The European journal of neuroscience}, volume = {49}, number = {7}, pages = {884-887}, doi = {10.1111/ejn.14419}, pmid = {30968456}, issn = {1460-9568}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; }, }
@article {pmid30967441, year = {2019}, author = {Visscher, PM and Goddard, ME}, title = {From R.A. Fisher's 1918 Paper to GWAS a Century Later.}, journal = {Genetics}, volume = {211}, number = {4}, pages = {1125-1130}, pmid = {30967441}, issn = {1943-2631}, mesh = {Animals ; Genetics/*history ; Genome-Wide Association Study/history/*methods ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {The genetics and evolution of complex traits, including quantitative traits and disease, have been hotly debated ever since Darwin. A century ago, a paper from R.A. Fisher reconciled Mendelian and biometrical genetics in a landmark contribution that is now accepted as the main foundation stone of the field of quantitative genetics. Here, we give our perspective on Fisher's 1918 paper in the context of how and why it is relevant in today's genome era. We mostly focus on human trait variation, in part because Fisher did so too, but the conclusions are general and extend to other natural populations, and to populations undergoing artificial selection.}, }
@article {pmid30948031, year = {2019}, author = {Cameron, RA}, title = {A personal history of the echinoderm genome sequencing.}, journal = {Methods in cell biology}, volume = {151}, number = {}, pages = {55-61}, doi = {10.1016/bs.mcb.2019.03.008}, pmid = {30948031}, issn = {0091-679X}, mesh = {Animals ; Chromosome Mapping ; Echinodermata/genetics ; Genome/*genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Sea Urchins/*genetics ; }, abstract = {At the most fundamental level, the genome is the basis for questions about the mechanisms of development: how it works. This perspective provides a brief historical review of the sequencing of the echinoderm genome and the progress in answering this complex question, which depends on technological advances as well as intellectual ones.}, }
@article {pmid30942313, year = {2019}, author = {Barahona, A}, title = {Karyotyping and population genetics in Cold War Mexico: Armendares's and Lisker's characterization of child and indigenous populations, 1960s-1980s.}, journal = {Historia, ciencias, saude--Manguinhos}, volume = {26}, number = {1}, pages = {245-264}, doi = {10.1590/S0104-59702019000100014}, pmid = {30942313}, issn = {1678-4758}, mesh = {Carbohydrate Metabolism, Inborn Errors/history ; Child ; Cytogenetics/history ; Genetics, Population/*history ; Glucosephosphate Dehydrogenase Deficiency/history ; History, 20th Century ; Human Genetics/*history ; Humans ; Indigenous Peoples/genetics/*history ; Karyotyping/history ; Lactase/deficiency/history ; Mexico ; }, abstract = {This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.}, }
@article {pmid30942312, year = {2019}, author = {Torrens, E}, title = {Biomedical knowledge in Mexico during the Cold War and its impact in pictorial representations of Homo sapiens and racial hierarchies.}, journal = {Historia, ciencias, saude--Manguinhos}, volume = {26}, number = {1}, pages = {219-244}, doi = {10.1590/S0104-59702019000100013}, pmid = {30942312}, issn = {1678-4758}, mesh = {Biological Evolution ; Continental Population Groups/*genetics ; Genetics, Medical/*history ; History, 19th Century ; History, 20th Century ; Humans ; Internationality/history ; Medical Illustration/*history ; Mexico ; Racism/history ; }, abstract = {This paper provides an overview of the state of Mexican genetics and biomedical knowledge during the second half of the twentieth century, as well as its impact on the visual representation of human groups and racial hierarchies, based on social studies of scientific imaging and visualization (SIV) and theoretical concepts and methods. It also addresses the genealogy and shifts of the concept of race and racialization of Mexican bodies, concluding with the novel visual culture that resulted from genetic knowledge merged with the racist phenomenon in the second half of the twentieth century in Mexico.}, }
@article {pmid30922926, year = {2020}, author = {Griffin, DK and Larkin, DM and O'Connor, RE}, title = {Time lapse: A glimpse into prehistoric genomics.}, journal = {European journal of medical genetics}, volume = {63}, number = {2}, pages = {103640}, pmid = {30922926}, issn = {1878-0849}, support = {BB/E010652/1/BB_/Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Animals ; Birds/genetics ; Chromosome Aberrations ; Chromosomes ; Dinosaurs/genetics ; Evolution, Molecular ; Gene Ontology ; *Genome ; *Genomics/history ; History, Ancient ; Humans ; Karyotype ; Phenotype ; }, abstract = {For the purpose of this review, 'time-lapse' refers to the reconstruction of ancestral (in this case dinosaur) karyotypes using genome assemblies of extant species. Such reconstructions are only usually possible when genomes are assembled to 'chromosome level' i.e. a complete representation of all the sequences, correctly ordered contiguously on each of the chromosomes. Recent paleontological evidence is very clear that birds are living dinosaurs, the latest example of dinosaurs emerging from a catastrophic extinction event. Non-avian dinosaurs (ever present in the public imagination through art, and broadcast media) emerged some 240 million years ago and have displayed incredible phenotypic diversity. Here we report on our recent studies to infer the overall karyotype of the Theropod dinosaur lineage from extant avian chromosome level genome assemblies. Our work first focused on determining the likely karyotype of the avian ancestor (most likely a chicken-sized, two-legged, feathered, land dinosaur from the Jurassic period) finding karyotypic similarity to the chicken. We then took the work further to determine the likely karyotype of the bird-lizard ancestor and the chromosomal changes (chiefly translocations and inversions) that occurred between then and modern birds. A combination of bioinformatics and cross-species fluorescence in situ hybridization (zoo-FISH) uncovered a considerable number of translocations and fissions from a 'lizard-like' genome structure of 2n = 36-46 to one similar to that of soft-shelled turtles (2n = 66) from 275 to 255 million years ago (mya). Remarkable karyotypic similarities between some soft-shelled turtles and chicken suggests that there were few translocations from the bird-turtle ancestor (plus ∼7 fissions) through the dawn of the dinosaurs and pterosaurs, through the theropod linage and on to most to modern birds. In other words, an avian-like karyotype was in place about 240mya when the dinosaurs and pterosaurs first emerged. We mapped 49 chromosome inversions from then to the present day, uncovering some gene ontology enrichment in evolutionary breakpoint regions. This avian-like karyotype with its many (micro)chromosomes provides the basis for variation (the driver of natural selection) through increased random segregation and recombination. It may therefore contribute to the ability of dinosaurs to survive multiple extinction events, emerging each time as speciose and diverse.}, }
@article {pmid30901553, year = {2019}, author = {Lupski, JR}, title = {A Human in Human Genetics.}, journal = {Cell}, volume = {177}, number = {1}, pages = {9-15}, doi = {10.1016/j.cell.2019.02.034}, pmid = {30901553}, issn = {1097-4172}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; }, }
@article {pmid30858322, year = {2019}, author = {Azar, B}, title = {Profile of Daniel A. Haber.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {116}, number = {13}, pages = {5840-5842}, pmid = {30858322}, issn = {1091-6490}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Massachusetts ; Medical Oncology/history ; United States ; }, }
@article {pmid30849326, year = {2019}, author = {Lupski, JR}, title = {2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.}, journal = {American journal of human genetics}, volume = {104}, number = {3}, pages = {391-406}, pmid = {30849326}, issn = {1537-6605}, mesh = {*Awards and Prizes ; *Chromosome Aberrations ; *Genetic Variation ; Genetics, Medical/*history ; *Genome, Human ; *Genomics ; History, 21st Century ; Humans ; *Leadership ; }, }
@article {pmid30849324, year = {2019}, author = {Kathiresan, S}, title = {2018 Curt Stern Award Address.}, journal = {American journal of human genetics}, volume = {104}, number = {3}, pages = {384-388}, pmid = {30849324}, issn = {1537-6605}, mesh = {*Awards and Prizes ; *Genetic Predisposition to Disease ; Genetics, Medical/*history ; History, 21st Century ; Humans ; Myocardial Infarction/epidemiology/*genetics/*prevention &amp; control ; United States/epidemiology ; }, abstract = {This article is based on the address given by the author at the meeting of the American Society of Human Genetics (ASHG) on October 18, 2018, in San Diego, California. The audio of the original address can be found at the ASHG website.}, }
@article {pmid30849323, year = {2019}, author = {Lander, ES}, title = {2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations.}, journal = {American journal of human genetics}, volume = {104}, number = {3}, pages = {375-383}, pmid = {30849323}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Disease/*genetics ; Family ; *Genetic Predisposition to Disease ; Genetics, Medical/*history ; *Genetics, Population ; *Genome, Human ; Genome-Wide Association Study ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30848958, year = {2019}, author = {Temtamy, SA}, title = {The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years.}, journal = {Annual review of genomics and human genetics}, volume = {20}, number = {}, pages = {1-19}, doi = {10.1146/annurev-genom-083118-015201}, pmid = {30848958}, issn = {1545-293X}, mesh = {Academies and Institutes/*history/organization &amp; administration ; Awards and Prizes ; Egypt ; Hand Deformities, Congenital/genetics/*history ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/organization &amp; administration ; Humans ; International Cooperation ; }, abstract = {This article describes my experiences over more than 50 years in initiating and maintaining research on human genetics and genomics at the National Research Centre in Cairo, Egypt, from its beginnings in a small unit of human genetics to the creation of the Center of Excellence for Human Genetics. This was also the subject of a lecture I gave at the 10th Conference of the African Society of Human Genetics, held in Cairo in November 2017, after which Professor Michèle Ramsay, president of the society, suggested that I write an autobiographical article for the Annual Review of Genomics and Human Genetics. I hope that I succeeded in the difficult assignment of summarizing the efforts of a researcher from a developing country to initiate and maintain the rapidly advancing science of human genetics and genomics in my own country and make contributions to the worldwide scientific community.}, }
@article {pmid30846543, year = {2019}, author = {Strauss, BS}, title = {Martynas Yčas: The "Archivist" of the RNA Tie Club.}, journal = {Genetics}, volume = {211}, number = {3}, pages = {789-795}, pmid = {30846543}, issn = {1943-2631}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA/chemistry/genetics/metabolism ; United States ; }, abstract = {Between about 1951 and the early 1960s, the basic structure of molecular biology was revealed. Central to our understanding was the unraveling of the various roles of RNA, culminating in the identification of messenger RNA (mRNA) and the deciphering of the genetic code. We know a great deal about the role of Brenner, Crick, Jacob, and Nirenberg in these discoveries, but many others played important supporting parts. One of these is a little-known scientist, Martynas Yčas, who appears in histories, generally without explanation, as the "archivist of the RNA Tie Club." Yčas was born in Lithuania. His father helped write the Lithuanian Constitution in 1919. He studied Roman Law and served in the Lithuanian army before escaping from the Russians in 1940. The records of correspondence of Yčas with the physicist George Gamow and with Francis Crick throw some light on the genesis of our understanding of the role of mRNA. The story of the "RNA Tie Club" illustrates the difficulty in assigning credit for important discoveries and underscores the importance of a free exchange of information, even (or especially) among competitors.}, }
@article {pmid30844063, year = {2019}, author = {Dujon, B}, title = {My route to the intimacy of genomes.}, journal = {FEMS yeast research}, volume = {19}, number = {3}, pages = {}, doi = {10.1093/femsyr/foz023}, pmid = {30844063}, issn = {1567-1364}, mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Recombination, Genetic ; Research ; Yeasts/*genetics ; }, abstract = {Being invited by a prestigious journal to write the retrospective of one's life is first a great honor, and then a chore when starting to do it. These feelings did not spare me. But trying to recall my past to the best of my memory, I learned how lucky I was to have been born to a generation that witnessed so many scientific discoveries. There is little in common between the genetic courses I taught recently and those that I received more than 50 years ago. Thinking that a tiny bit of this fantastic evolution might come from my accidental encountering with yeasts is a stunning experience. I wish the same for the new generation.}, }
@article {pmid30814278, year = {2019}, author = {Pipas, JM}, title = {DNA Tumor Viruses and Their Contributions to Molecular Biology.}, journal = {Journal of virology}, volume = {93}, number = {9}, pages = {}, pmid = {30814278}, issn = {1098-5514}, mesh = {Animals ; Congresses as Topic ; DNA Tumor Viruses/*physiology ; History, 20th Century ; History, 21st Century ; Humans ; Italy ; Molecular Biology/*history ; Neoplasms/*history/*virology ; }, abstract = {This summer marks the 51st anniversary of the DNA tumor virus meetings. Scientists from around the world will gather in Trieste, Italy, to report their latest results and to agree or disagree on the current concepts that define our understanding of this diverse class of viruses. This article offers a brief history of the impact the study of these viruses has had on molecular and cancer biology and discusses obstacles and opportunities for future progress.}, }
@article {pmid30801828, year = {2019}, author = {Mason, C and Guillery, R}, title = {Conversations with Ray Guillery on albinism: linking Siamese cat visual pathway connectivity to mouse retinal development.}, journal = {The European journal of neuroscience}, volume = {49}, number = {7}, pages = {913-927}, pmid = {30801828}, issn = {1460-9568}, support = {//Vision of Children Foundation/International ; R01 EY012736/EY/NEI NIH HHS/United States ; R01 EY015290/EY/NEI NIH HHS/United States ; R21 EY023714/EY/NEI NIH HHS/United States ; T32 EY013933/EY/NEI NIH HHS/United States ; }, mesh = {Albinism, Ocular/*genetics ; Animals ; Cats ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mice ; Monophenol Monooxygenase/genetics ; Neurosciences/*history ; Retina/*growth &amp; development/metabolism/physiology ; Visual Pathways/*physiology ; }, abstract = {In albinism of all species, perturbed melanin biosynthesis in the eye leads to foveal hypoplasia, retinal ganglion cell misrouting, and, consequently, altered binocular vision. Here, written before he died, Ray Guillery chronicles his discovery of the aberrant circuitry from eye to brain in the Siamese cat. Ray's characterization of visual pathway anomalies in this temperature sensitive mutation of tyrosinase and thus melanin synthesis in domestic cats opened the exploration of albinism and simultaneously, a genetic approach to the organization of neural circuitry. I follow this account with a remembrance of Ray's influence on my work. Beginning with my postdoc research with Ray on the cat visual pathway, through my own work on the mechanisms of retinal axon guidance in the developing mouse, Ray and I had a continuous and rich dialogue about the albino visual pathway. I will present the questions Ray posed and clues we have to date on the still-elusive link between eye pigment and the proper balance of ipsilateral and contralateral retinal ganglion cell projections to the brain.}, }
@article {pmid30801633, year = {2019}, author = {Kumar, TR}, title = {An interview with Dr Blanche Capel.}, journal = {Biology of reproduction}, volume = {100}, number = {4}, pages = {865-868}, doi = {10.1093/biolre/ioz033}, pmid = {30801633}, issn = {1529-7268}, mesh = {Animals ; *Cell Biology/history ; Embryonic Development/genetics ; Faculty, Medical/history ; *Genetics/history ; Gonads/*embryology/physiology ; History, 20th Century ; History, 21st Century ; *Sex Determination Processes ; United States ; }, }
@article {pmid30798827, year = {2019}, author = {Giampietro, PF}, title = {50 Years Ago in The Journal of Pediatrics: A Chromosome Survey of 2400 Normal Newborn Infants.}, journal = {The Journal of pediatrics}, volume = {206}, number = {}, pages = {25}, doi = {10.1016/j.jpeds.2018.09.001}, pmid = {30798827}, issn = {1097-6833}, mesh = {Chromosome Banding/history ; Chromosomes, Human/*genetics ; Congenital Abnormalities/genetics ; Cytogenetics/history/*trends ; Ethics, Medical ; Female ; *Gene Dosage ; Gene Rearrangement ; Genetic Variation ; History, 20th Century ; History, 21st Century ; Humans ; Infant, Newborn ; Klinefelter Syndrome/diagnosis ; Male ; Metaphase ; National Institutes of Health (U.S.) ; Oligonucleotide Array Sequence Analysis ; United States ; }, }
@article {pmid30786226, year = {2019}, author = {Nicol, D and Dreyfuss, RC and Gold, ER and Li, W and Liddicoat, J and Van Overwalle, G}, title = {International Divergence in Gene Patenting.}, journal = {Annual review of genomics and human genetics}, volume = {20}, number = {}, pages = {519-541}, doi = {10.1146/annurev-genom-083118-015112}, pmid = {30786226}, issn = {1545-293X}, mesh = {*Genes ; Genetics/history/*legislation &amp; jurisprudence ; Genomics/history/*legislation &amp; jurisprudence ; History, 20th Century ; History, 21st Century ; Humans ; *Patents as Topic ; }, abstract = {This review explores the recent divergence in international patent law relating to genes and associated subject matter. This divergence stems primarily from decisions of the highest courts in the United States and Australia on the eligibility of patent claims relating to the BRCA gene sequences. Patent offices, courts, and policy makers have struggled for many years to clearly articulate the bounds of patent claims on isolated and synthetic DNA and related products and processes, including methods for their use in genetic diagnostics. This review provides context to the current divergence by mapping key events in the gene patent journey from the early 1980s onward in five key jurisdictions: the United States, the member states of the European Patent Convention, Australia, Canada, and China. Early approaches to gene patenting had some commonalities across jurisdictions, which makes exploration of the recent divergence all the more interesting.There is insufficient empirical evidence to date to confidently predict the consequences of this recent divergence. However, it could potentially have a significant effect on local industry and on consumer access.}, }
@article {pmid30783691, year = {2019}, author = {Nemec, B and Zimmer, F}, title = {[The Emergence of Genetic Prenatal Diagnosis from Environmental Research : On a Methodological Shift in Prevention Around 1970].}, journal = {NTM}, volume = {27}, number = {1}, pages = {39-78}, pmid = {30783691}, issn = {1420-9144}, mesh = {Environmental Exposure/adverse effects/history ; Environmental Science/*history ; Genetic Diseases, Inborn/genetics/*history/prevention &amp; control ; Genetic Research/*history ; History, 20th Century ; Humans ; Mutagenesis ; Prenatal Diagnosis/*history ; }, abstract = {The history of genetic prenatal diagnosis has so far been analyzed as a part of the history of human genetics and its reorientation as a clinical and laboratory-based scientific discipline in the second half of the 20th century. Based on new source material, we show in this paper that the interest in prenatal diagnosis also arose within the context of research on mutagenicity (the capacity to induce mutations) that was concerned with environmental dangers to human health. Our analysis of the debates around the establishment of the German Research Foundation's (DFG) research program "Prenatal Diagnosis of Genetic Defects" reveals that amniocentesis was introduced in Western Germany by a group of scientists working on the dangers for the human organism caused by radiation, pharmaceuticals, and other substances and consumer goods. We argue that, in a period of growing environmental concern, the support of prenatal diagnosis aimed to close a perceived gap in the prevention of environmental mutagenicity, i. e. genetic anomalies induced by environmental factors. The expected financing of prenatal diagnosis by health insurance in the course of the reform of abortion rights was used as another argument for the new technology's introduction as a "defensive measure". Only in a second step did changes in research structures, but most importantly experience from gynecological practice lead to a reframing of the technology as a tool for the diagnosis and prevention of mostly genetic or spontaneously occurring anomalies. Eventually, prenatal diagnosis, as it became routinely used in Western Germany from the early 1980s onward, had little to do with "environmental" questions. This case study of the early history of genetic prenatal diagnosis analyzes the still poorly researched relationship between research in human genetics, environmental research and medical practice. Furthermore, we aim to shed new light on a shift in perspective in prevention around 1970 that has so far been described in different contexts.}, }
@article {pmid30780130, year = {2019}, author = {Richards, JS}, title = {WOMEN IN REPRODUCTIVE SCIENCE: Discovering science and the ovary: a career of joy.}, journal = {Reproduction (Cambridge, England)}, volume = {158}, number = {6}, pages = {F69-F80}, pmid = {30780130}, issn = {1741-7899}, support = {R56 HD016229/HD/NICHD NIH HHS/United States ; R01 CA181808/CA/NCI NIH HHS/United States ; R37 HD016229/HD/NICHD NIH HHS/United States ; R01 HD016272/HD/NICHD NIH HHS/United States ; R01 HD016229/HD/NICHD NIH HHS/United States ; R01 HD076980/HD/NICHD NIH HHS/United States ; }, mesh = {Animals ; Biomedical Research/*history ; *Disease Models, Animal ; Female ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Ovarian Neoplasms/*physiopathology ; Ovary/cytology/*physiology ; *Reproduction ; United States ; }, abstract = {My career has been about discovering science and learning the joys of the discovery process itself. It has been a challenging but rewarding process filled with many exciting moments and wonderful colleagues and students. Although I went to college to become a French major, I ultimately stumbled into research while pursuing a Masters Degree in teaching. Thus, my research career began in graduate school where I was studying NAD kinase in the ovary as a possible regulator of steroidogenesis, a big issue in the late 1960s. After a short excursion of teaching in North Dakota, I became a postdoctoral fellow at the University of Michigan, where radio-immuno assays and radio receptor assays had just come on the scene and were transforming endocrinology from laborious bioassays to quantitative science and of course these assays related to the ovary. From there I went to Baylor College of Medicine, a mecca of molecular biology, cloning genes and generating mouse models. It has been a fascinating and joyous journey.}, }
@article {pmid30765511, year = {2019}, author = {Frixione, E and Ruiz-Zamarripa, L}, title = {The "scientific catastrophe" in nucleic acids research that boosted molecular biology.}, journal = {The Journal of biological chemistry}, volume = {294}, number = {7}, pages = {2249-2255}, pmid = {30765511}, issn = {1083-351X}, mesh = {Animals ; *DNA/chemistry/history/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Nucleic Acid Conformation ; *RNA/chemistry/history/metabolism ; }, }
@article {pmid30760854, year = {2019}, author = {Shay, JW and Wright, WE}, title = {Telomeres and telomerase: three decades of progress.}, journal = {Nature reviews. Genetics}, volume = {20}, number = {5}, pages = {299-309}, doi = {10.1038/s41576-019-0099-1}, pmid = {30760854}, issn = {1471-0064}, mesh = {Abnormalities, Multiple/genetics/metabolism/pathology ; Aging/*genetics/metabolism ; Animals ; Cell Cycle Proteins/genetics/metabolism ; DNA/chemistry/genetics/metabolism ; Gene Expression Regulation ; Genomics/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Chaperones ; Neoplasms/*genetics/metabolism/pathology ; Nuclear Proteins/genetics/metabolism ; Progeria/genetics/metabolism/pathology ; Ribonucleoproteins, Small Nuclear/genetics/metabolism ; Ribonucleoproteins, Small Nucleolar/genetics/metabolism ; Telomerase/*genetics/metabolism ; Telomere/*chemistry/metabolism ; Telomere Homeostasis ; Telomere-Binding Proteins/genetics/metabolism ; }, abstract = {Many recent advances have emerged in the telomere and telomerase fields. This Timeline article highlights the key advances that have expanded our views on the mechanistic underpinnings of telomeres and telomerase and their roles in ageing and disease. Three decades ago, the classic view was that telomeres protected the natural ends of linear chromosomes and that telomerase was a specific telomere-terminal transferase necessary for the replication of chromosome ends in single-celled organisms. While this concept is still correct, many diverse fields associated with telomeres and telomerase have substantially matured. These areas include the discovery of most of the key molecular components of telomerase, implications for limits to cellular replication, identification and characterization of human genetic disorders that result in premature telomere shortening, the concept that inhibiting telomerase might be a successful therapeutic strategy and roles for telomeres in regulating gene expression. We discuss progress in these areas and conclude with challenges and unanswered questions in the field.}, }
@article {pmid30733376, year = {2019}, author = {Dung, SK and López, A and Barragan, EL and Reyes, RJ and Thu, R and Castellanos, E and Catalan, F and Huerta-Sánchez, E and Rohlfs, RV}, title = {Illuminating Women's Hidden Contribution to Historical Theoretical Population Genetics.}, journal = {Genetics}, volume = {211}, number = {2}, pages = {363-366}, pmid = {30733376}, issn = {1943-2631}, support = {R35 GM128946/GM/NIGMS NIH HHS/United States ; UL1 GM118985/GM/NIGMS NIH HHS/United States ; }, mesh = {*Authorship ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history/statistics &amp; numerical data ; Sexism/history/*statistics &amp; numerical data ; Women/*history ; }, abstract = {While productivity in academia is measured through authorship, not all scientific contributors have been recognized as authors. We consider nonauthor "acknowledged programmers" (APs), who developed, ran, and sometimes analyzed the results of computer programs. We identified APs in Theoretical Population Biology articles published between 1970 and 1990, finding that APs were disproportionately women (P = 4.0 × 10-10). We note recurrent APs who contributed to several highly-cited manuscripts. The occurrence of APs decreased over time, corresponding to the masculinization of computer programming and the shift of programming responsibilities to individuals credited as authors. We conclude that, while previously overlooked, historically, women have made substantial contributions to computational biology. For a video of this abstract, see: https://vimeo.com/313424402.}, }
@article {pmid30728085, year = {2019}, author = {Moniz, MBJ and Hutton, FG}, title = {Genetics Research turns a new [open access] leaf….}, journal = {Genetics research}, volume = {101}, number = {}, pages = {e1}, pmid = {30728085}, issn = {1469-5073}, mesh = {Access to Information/*history ; Genetics/history/*trends ; History, 20th Century ; History, 21st Century ; Research/trends ; }, }
@article {pmid30706092, year = {2019}, author = {Kasahara, M and Flajnik, MF and Takahama, Y}, title = {Biology, evolution, and history of antigen processing and presentation: Immunogenetics special issue 2019.}, journal = {Immunogenetics}, volume = {71}, number = {3}, pages = {137-139}, pmid = {30706092}, issn = {1432-1211}, support = {R56 AI140326/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; Antigen Presentation/*immunology ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; Major Histocompatibility Complex/*immunology ; }, }
@article {pmid30689139, year = {2019}, author = {Grodwohl, JB}, title = {Animal Behavior, Population Biology and the Modern Synthesis (1955-1985).}, journal = {Journal of the history of biology}, volume = {52}, number = {4}, pages = {597-633}, pmid = {30689139}, issn = {1573-0387}, mesh = {Animals ; *Behavior, Animal ; *Biological Evolution ; Ethology/*history ; Genetics, Population/*history ; History, 20th Century ; Models, Biological ; *Selection, Genetic ; Sociobiology/history ; }, abstract = {This paper examines the history of animal behavior studies after the synthesis period. Three episodes are considered: the adoption of the theory of natural selection, the mathematization of ideas, and the spread of molecular methods in behavior studies. In these three episodes, students of behavior adopted practices and standards developed in population ecology and population genetics. While they borrowed tools and methods from these fields, they made distinct uses (inclusive fitness method, evolutionary theory of games, emphasis on individual selection) that set them relatively apart and led them to contribute, in their own way, to evolutionary theory. These episodes also highlight some limitations of "conjunction narratives" centered on the relation between a discipline and the modern synthesis. A trend in conjunction narratives is to interpret any development related to evolution in a discipline as an "extension," an "integration," or as a "delayed" synthesis. I here suggest that this can lead to underestimate discontinuities in the history of evolutionary biology.}, }
@article {pmid30679065, year = {2019}, author = {Bonneuil, C}, title = {Seeing nature as a 'universal store of genes': How biological diversity became 'genetic resources', 1890-1940.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {75}, number = {}, pages = {1-14}, doi = {10.1016/j.shpsc.2018.12.002}, pmid = {30679065}, issn = {1879-2499}, mesh = {Agriculture/*history ; *Biodiversity ; Biota/*genetics ; Colonialism ; Conservation of Natural Resources/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Politics ; Social Change ; }, abstract = {Till late in the 20th century, biological diversity has been understood and addressed in terms of "genetic resources". This paper proposes a history of this "genetic resources" concept and the biopolitical practices it was related to. A semantic history of the 'resource' idiom first sheds light on how, in the age of empires and fossil industrialism, the Earth came to be considered as a stock of static mineral and living reserves. Then we follow how the gene became the unit of this "resourcist" view of biological diversity as static stocks of entities open to prospection, harnessing and "conservation". Erwin Baur, Nikolai I. Vavilov, Aleksandr S. Serebrovsky and Hermann J. Muller were key biologists who introduced a spatial turn to the gene concept. Beyond the space-time of Neo-mendelian and Morganian laboratory genetics, genes became understood though a geographical gaze at a planetary scale. The world became a "universal store of genes" (Vavilov, 1929). From 1926 to World War 2, this advent of genes as new global epistemic objects went hand in hand with genes' new modes of existence as geopolitical objects. The article documents Interwar years' scramble for genes as well as first collaborative international efforts to conserve and exchange genetic material (which prefigured post WW2 initiatives), and situates the rise of the 'genetic resources' category within mid 20th century's imperialism, high-modernism, agricultural modernization and biopolitics.}, }
@article {pmid30674562, year = {2019}, author = {Carrasco, N}, title = {Mentors: Ron Kaback.}, journal = {The Journal of general physiology}, volume = {151}, number = {2}, pages = {97-99}, pmid = {30674562}, issn = {1540-7748}, mesh = {Cell Biology/*history ; History, 20th Century ; History, 21st Century ; Membrane Transport Proteins/metabolism ; Molecular Biology/*history ; }, }
@article {pmid30661654, year = {2019}, author = {Morganti, S and Tarantino, P and Ferraro, E and D'Amico, P and Viale, G and Trapani, D and Duso, BA and Curigliano, G}, title = {Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life.}, journal = {Critical reviews in oncology/hematology}, volume = {133}, number = {}, pages = {171-182}, doi = {10.1016/j.critrevonc.2018.11.008}, pmid = {30661654}, issn = {1879-0461}, mesh = {*Data Interpretation, Statistical ; Diagnostic Tests, Routine/history/methods/statistics &amp; numerical data ; Disease Progression ; *Genomics/history/methods/standards ; *High-Throughput Nucleotide Sequencing/history/standards/statistics &amp; numerical data ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Neoplasms/diagnosis/*genetics/*therapy ; *Precision Medicine/history/methods/standards ; Research Design/standards ; }, abstract = {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.}, }
@article {pmid30657894, year = {2019}, author = {Kumar, TR}, title = {An interview with Dr Richard Behringer.}, journal = {Biology of reproduction}, volume = {100}, number = {1}, pages = {8-10}, doi = {10.1093/biolre/ioy189}, pmid = {30657894}, issn = {1529-7268}, mesh = {Animals ; Anti-Mullerian Hormone/analysis/genetics ; *Biology/history ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; *Laboratory Personnel/history ; Mice ; Receptors, Steroid/genetics ; Reproduction/genetics/physiology ; Texas ; }, }
@article {pmid30652837, year = {2018}, author = {Barciszewski, J and Szymański, M and Malesa, A and Olszewska, D and Markiewicz, W and Barciszewski, J}, title = {[Origins of molecular life sciences. Polish context].}, journal = {Postepy biochemii}, volume = {64}, number = {1}, pages = {55-66}, doi = {10.18388/pb.2018_105}, pmid = {30652837}, issn = {0032-5422}, mesh = {Biological Science Disciplines/*history ; History, 20th Century ; Molecular Biology/*history ; Poland ; }, abstract = {Different scientific disciplines such as physics, genetics or biochemistry crossed over into molecular biology in the last century. The Polish state didn't existed at the beginning of XX century, but the territory for a large number of scientists was not a limitation in delineating new routes, making fundamental discoveries or training the new generation of distinguished people of sciences. We want to tell the story of roots of molecular biology from the Polish perspective and outline its importance, by bringing closer the most essential discoveries of elite scientists in different fields of life science, associated with Poland and its territory.}, }
@article {pmid30639424, year = {2019}, author = {Livi, GP}, title = {Halcyon days of TOR: Reflections on the multiple independent discovery of the yeast and mammalian TOR proteins.}, journal = {Gene}, volume = {692}, number = {}, pages = {145-155}, doi = {10.1016/j.gene.2018.12.046}, pmid = {30639424}, issn = {1879-0038}, mesh = {Animals ; Drug Resistance, Fungal/drug effects/genetics ; Fungal Proteins/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Mammals ; Mechanistic Target of Rapamycin Complex 1/genetics/metabolism ; Mechanistic Target of Rapamycin Complex 2/genetics/metabolism ; Molecular Biology/*history ; Mutation ; Protein-Serine-Threonine Kinases/*genetics/metabolism ; Saccharomyces cerevisiae Proteins/*genetics/metabolism ; Sirolimus/pharmacology ; Structure-Activity Relationship ; TOR Serine-Threonine Kinases/chemistry/*metabolism ; Tacrolimus Binding Protein 1A/genetics/*metabolism ; }, abstract = {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.}, }
@article {pmid30626637, year = {2019}, author = {Haloupek, N}, title = {Barbara J. Meyer: 2018 Thomas Hunt Morgan Medal.}, journal = {Genetics}, volume = {211}, number = {1}, pages = {1-3}, pmid = {30626637}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {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.}, }
@article {pmid30611771, year = {2019}, author = {Jager, MJ and Brand, A and Claas, FHJ}, title = {Jon van Rood: The pioneer and his personal view on the early developments of HLA and immunogenetics.}, journal = {Transplant immunology}, volume = {52}, number = {}, pages = {1-26}, doi = {10.1016/j.trim.2018.12.006}, pmid = {30611771}, issn = {1878-5492}, mesh = {Blood Transfusion ; HLA Antigens/*immunology ; Hematopoietic Stem Cell Transplantation ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; *Transplantation Immunology ; }, abstract = {A single observation in a patient with an unusual transfusion reaction led to a life-long fascination with immunogenetics, and a strong wish to improve the care for patients needing a transplantation. In 2017, Jon van Rood, one of the pioneers in the field of HLA and immunogenetics of transplantation, passed away. Several obituaries have appeared describing some of the highlights of his career. However, the details of the early developments leading among others to the routine use of HLA as an important parameter for donor selection in organ- and hematopoietic stem cell transplantation are largely unknown to the community. After his retirement as Chair of the Department of Immunohaematology and Blood Transfusion (IHB) in 1991, Jon van Rood wrote regularly in the "Crosstalk", the departmental journal, and gave his personal view on the history of the discovery and implications of HLA. These autobiographic descriptions were originally written in Dutch and have been translated, while texts from other sources and the relevant references have been added to illustrate the historical perspective. This special issue of Transplant Immunology combines the autobiographic part, Jon's own version of the history, with other facts of his scientific life and the impact of his findings on the field of clinical transplantation. Hopefully, this knowledge of the history will be of benefit for future developments in transplantation immunology.}, }
@article {pmid30604835, year = {2018}, author = {Krumlauf, R}, title = {Hox genes, clusters and collinearity.}, journal = {The International journal of developmental biology}, volume = {62}, number = {11-12}, pages = {659-663}, doi = {10.1387/ijdb.180330rr}, pmid = {30604835}, issn = {1696-3547}, mesh = {Animals ; Body Patterning/genetics ; *Gene Expression Regulation, Developmental ; *Genes, Homeobox ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {This year marks the 40th anniversary of the discovery by Ed Lewis of the property of collinearity in the bithorax gene complex in Drosophila. This landmark work illustrated the need to understand regulatory mechanisms that coordinate expression of homeotic gene clusters. Through the efforts of many groups, investigation of the Hox gene family has generated many fundamental findings on the roles and regulation of this conserved gene family in development, disease and evolution. This has led to a number of important conceptual advances in gene regulation and evolutionary biology. This article presents some of the history and advances made through studies on Hox gene clusters.}, }
@article {pmid30601140, year = {2019}, author = {Neill, US}, title = {A conversation with Mary-Claire King.}, journal = {The Journal of clinical investigation}, volume = {129}, number = {1}, pages = {1-3}, doi = {10.1172/JCI126050}, pmid = {30601140}, issn = {1558-8238}, mesh = {Animals ; BRCA1 Protein/genetics/*history ; Female ; Genetics, Medical/*history ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; }, }
@article {pmid30584186, year = {2018}, author = {}, title = {GGS Prize 2018.}, journal = {Genes &amp; genetic systems}, volume = {93}, number = {5}, pages = {169}, doi = {10.1266/ggs.93.169}, pmid = {30584186}, issn = {1880-5779}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Periodicals as Topic/*history ; }, }
@article {pmid30579463, year = {2019}, author = {Heithaus, JL}, title = {50 Years Ago in The Journal Of Pediatrics: Cytogenetics in Mentally Defective Children with Anomalies: A Controlled Study.}, journal = {The Journal of pediatrics}, volume = {204}, number = {}, pages = {161}, doi = {10.1016/j.jpeds.2018.07.063}, pmid = {30579463}, issn = {1097-6833}, mesh = {Child ; Cytogenetics/*history/methods ; History, 20th Century ; Humans ; Intellectual Disability/diagnosis/*genetics/history ; Pediatrics/*history ; }, }
@article {pmid30575338, year = {2018}, author = {}, title = {12th East-West Immunogenetics Conference, 8-9th March 2018, City Conference Centre, Prague, Czech Republic.}, journal = {HLA}, volume = {92 Suppl 2}, number = {}, pages = {67-78}, doi = {10.1111/tan.13442}, pmid = {30575338}, issn = {2059-2310}, mesh = {Czech Republic ; Graft Rejection/diagnosis/genetics/*immunology/prevention &amp; control ; Graft Survival/physiology ; Hematopoietic Stem Cell Transplantation/*methods ; Histocompatibility/genetics ; Histocompatibility Testing ; History, 21st Century ; Humans ; *Immune Tolerance ; Immunogenetics/history/methods/*trends ; Immunosuppressive Agents/therapeutic use ; Organ Transplantation/*methods ; Tissue Donors/supply &amp; distribution ; }, }
@article {pmid30571458, year = {2018}, author = {Sallam, T}, title = {Stephen G. Young.}, journal = {Circulation research}, volume = {123}, number = {11}, pages = {1192-1195}, doi = {10.1161/CIRCRESAHA.118.314236}, pmid = {30571458}, issn = {1524-4571}, mesh = {Biomedical Research/ethics/standards ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, }
@article {pmid30554668, year = {2018}, author = {Henn, BM and Quintana-Murci, L}, title = {Editorial overview: The history, geography and adaptation of human genes: A tribute to L. Luca Cavalli-Sforza.}, journal = {Current opinion in genetics &amp; development}, volume = {53}, number = {}, pages = {iii-v}, doi = {10.1016/j.gde.2018.11.004}, pmid = {30554668}, issn = {1879-0380}, mesh = {Adaptation, Physiological/genetics ; Genetics, Population/*history ; Geography ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; }, }
@article {pmid30554378, year = {2019}, author = {Hoßfeld, U and Levit, GS and Watts, E}, title = {100 Years of phenogenetics: Valentin Haecker and his examination of the phenotype.}, journal = {Molecular genetics and genomics : MGG}, volume = {294}, number = {2}, pages = {445-456}, pmid = {30554378}, issn = {1617-4623}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; Mutation/genetics ; *Phenotype ; }, abstract = {Following the 'rediscovery' of Mendel's work around 1900 the study of genetics grew rapidly and multiple new inheritance theories quickly emerged such as Hugo de Vries' "Mutation Theory" (1901) and the "Boveri-Sutton Chromosome Theory" (1902). Mendel's work also caught the attention of the German geneticist Valentin Haecker, yet he was generally dissatisfied the simplicity of Mendelian genetics as he believed that inheritance and the expression of various characteristics appeared to be much more complex than the proposed "on-off hypotheses". Haecker's primary objection was that Mendelian-based theories still failed to bridge the gap between hereditary units and phenotypic traits. Haecker thus set out to bridge this gap in his research program, which he called Phänogenetik ("phenogenetics"). He outlined his work in a special study "Entwicklungsgeschichtliche Eigenschaftsanalyse (Phänogenetik)" in 1918. 2018 thus marks the 100th anniversary of Haecker's seminal publication, which was devoted to the analysis of the phenotype and highlighted the true complexity of heredity. This article takes a specific look at Haecker and his work, while also illustrating how this often forgotten scientist influenced the field of genetics and other scientists.}, }
@article {pmid30523165, year = {2018}, author = {Charlesworth, D}, title = {Mogens Westergaard's Contributions to Understanding Sex Chromosomes.}, journal = {Genetics}, volume = {210}, number = {4}, pages = {1143-1149}, pmid = {30523165}, issn = {1943-2631}, mesh = {Alleles ; Chromosomes, Plant/genetics ; *Evolution, Molecular ; Genetic Linkage ; Genetics/*history ; History, 20th Century ; Magnoliopsida/*genetics ; Sex Chromosomes/genetics ; Sex Determination Processes/*genetics ; }, abstract = {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.}, }
@article {pmid30523164, year = {2018}, author = {Haloupek, N}, title = {Mariana Wolfner: 2018 Genetics Society of America Medal.}, journal = {Genetics}, volume = {210}, number = {4}, pages = {1139-1141}, pmid = {30523164}, issn = {1943-2631}, mesh = {Animals ; *Awards and Prizes ; Drosophila melanogaster/*genetics ; Genetics/*history/*trends ; History, 21st Century ; Humans ; Seminal Plasma Proteins/genetics ; Sexual Behavior ; Societies, Scientific ; }, abstract = {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.}, }
@article {pmid30538303, year = {2019}, author = {Ortega-Del Vecchyo, D and Slatkin, M}, title = {FST between archaic and present-day samples.}, journal = {Heredity}, volume = {122}, number = {6}, pages = {711-718}, pmid = {30538303}, issn = {1365-2540}, support = {R01 GM040282/GM/NIGMS NIH HHS/United States ; }, mesh = {DNA, Ancient/*analysis ; Fossils/history ; Genetics, Population/*history ; *Genome ; History, Ancient ; Models, Genetic ; }, abstract = {The increasing abundance of DNA sequences obtained from fossils calls for new population genetics theory that takes account of both the temporal and spatial separation of samples. Here, we exploit the relationship between Wright's FST and average coalescence times to develop an analytic theory describing how FST depends on both the distance and time separating pairs of sampled genomes. We apply this theory to several simple models of population history. If there is a time series of samples, partial population replacement creates a discontinuity in pairwise FST values. The magnitude of the discontinuity depends on the extent of replacement. In stepping-stone models, pairwise FST values between archaic and present-day samples reflect both the spatial and temporal separation. At long distances, an isolation by distance pattern dominates. At short distances, the time separation dominates. Analytic predictions fit patterns generated by simulations. We illustrate our results with applications to archaic samples from European human populations. We compare present-day samples with a pair of archaic samples taken before and after a replacement event.}, }
@article {pmid30530852, year = {2018}, author = {Russell, DW}, title = {Lucky, times ten: A career in Texas science.}, journal = {The Journal of biological chemistry}, volume = {293}, number = {49}, pages = {18804-18827}, pmid = {30530852}, issn = {1083-351X}, support = {P01 HL020948/HL/NHLBI NIH HHS/United States ; PL1 DK081182/DK/NIDDK NIH HHS/United States ; R01 AR051943/AR/NIAMS NIH HHS/United States ; }, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Texas ; }, abstract = {On January 21, 2017, I received an E-mail from Herb Tabor that I had been simultaneously hoping for and dreading for several years: an invitation to write a "Reflections" article for the Journal of Biological Chemistry On the one hand, I was honored to receive an invitation from Herb, a man I have admired for over 40 years, known for 24 years, and worked with as a member of the Editorial Board and Associate Editor of the Journal of Biological Chemistry for 17 years. On the other hand, the invitation marked the waning of my career as an academic scientist. With these conflicting emotions, I wrote this article with the goals of recording my career history and recognizing the many mentors, trainees, and colleagues who have contributed to it and, perhaps with pretension, with the desire that students who are beginning a career in research will find inspiration in the path I have taken and appreciate the importance of luck.}, }
@article {pmid30501998, year = {2019}, author = {Arnone, MI and Oliveri, P and Martinez, P}, title = {A conceptual history of the "regulatory genome": From Theodor Boveri to Eric Davidson.}, journal = {Marine genomics}, volume = {44}, number = {}, pages = {24-31}, doi = {10.1016/j.margen.2018.11.003}, pmid = {30501998}, issn = {1876-7478}, mesh = {Animals ; *Gene Regulatory Networks ; *Genome ; Genomics/*history ; History, 19th Century ; History, 20th Century ; }, abstract = {The formalization of the idea of "Regulatory Genome" is a recent one. However, it stems from a long tradition in the study of how the genetic information is transferred between generations. Theodore Boveri suggested for the first time that the whole genome participates in the shaping of individuals. Through a long lineage of researchers, we have learned how this whole-genome activity is regulated, in space and time. It is, however, due to the insights and experimental approaches taken by different researchers, among them Eric Davidson and associates, that we understand the mechanistic basis of this regulation. Whole batteries of regulatory genes interact through their cis-regulatory modules, generating a precise pattern of cross-controlled gene activity (Gene Regulatory Networks). How these genes are deployed in development and evolution has become an area of vibrant research. Here we revisit the history of this intellectual endeavour, taking as key defining points along this historical trajectory the contributions of Theodor Boveri and Eric Davidson.}, }
@article {pmid30485586, year = {2019}, author = {Hard, JJ}, title = {Robin S. Waples-Recipient of the 2018 Molecular Ecology Prize.}, journal = {Molecular ecology}, volume = {28}, number = {1}, pages = {29-32}, doi = {10.1111/mec.14959}, pmid = {30485586}, issn = {1365-294X}, mesh = {*Awards and Prizes ; Ecology/*trends ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30482271, year = {2018}, author = {Xue, Y and Zhang, Y}, title = {Highlights of genetics research over the past four decades in China.}, journal = {Journal of genetics and genomics = Yi chuan xue bao}, volume = {45}, number = {11}, pages = {561-562}, doi = {10.1016/j.jgg.2018.11.001}, pmid = {30482271}, issn = {1673-8527}, mesh = {Animals ; China ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research/*history ; }, }
@article {pmid30478371, year = {2018}, author = {Datta, MS and Kishony, R}, title = {A spotlight on bacterial mutations for 75 years.}, journal = {Nature}, volume = {563}, number = {7733}, pages = {633-644}, doi = {10.1038/d41586-018-07521-8}, pmid = {30478371}, issn = {1476-4687}, mesh = {Animals ; Bacteria/cytology/*genetics/virology ; Bacteriophages/pathogenicity ; CRISPR-Cas Systems/genetics ; Escherichia coli/cytology/genetics/virology ; *Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Microbiology/*history ; Models, Genetic ; Molecular Biology/*history ; Mutagenesis ; *Mutation ; Poisson Distribution ; Selection, Genetic/*genetics ; Streptococcus thermophilus/cytology/genetics/virology ; }, }
@article {pmid30467159, year = {2018}, author = {Ramakrishnan, V and Henderson, R}, title = {Thomas A. Steitz (1940-2018).}, journal = {Science (New York, N.Y.)}, volume = {362}, number = {6417}, pages = {897}, doi = {10.1126/science.aav8253}, pmid = {30467159}, issn = {1095-9203}, support = {MC_U105184332//Medical Research Council/United Kingdom ; }, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Ribosomes/*ultrastructure ; United States ; }, }
@article {pmid30459119, year = {2018}, author = {Cai, L and Zheng, LA and He, L}, title = {The forty years of medical genetics in China.}, journal = {Journal of genetics and genomics = Yi chuan xue bao}, volume = {45}, number = {11}, pages = {569-582}, doi = {10.1016/j.jgg.2018.10.001}, pmid = {30459119}, issn = {1673-8527}, mesh = {Asian Continental Ancestry Group/genetics ; Biomedical Research/history/organization &amp; administration ; China ; Genetic Diseases, Inborn/*genetics/history ; Genetics, Medical/*history/organization &amp; administration ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy, Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a well-constructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection, along with strong support at the national industry level.}, }
@article {pmid30457467, year = {2018}, author = {Ma, Q and Adua, E and Boyce, MC and Li, X and Ji, G and Wang, W}, title = {IMass Time: The Future, in Future!.}, journal = {Omics : a journal of integrative biology}, volume = {22}, number = {11}, pages = {679-695}, doi = {10.1089/omi.2018.0162}, pmid = {30457467}, issn = {1557-8100}, mesh = {Artificial Intelligence/*trends ; Big Data ; Glycomics/history/methods ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Lipids/chemistry ; Mass Spectrometry/*history/methods/trends ; Metabolomics/history/methods ; Nobel Prize ; Proteins/chemistry ; Proteomics/history/methods ; }, abstract = {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.}, }
@article {pmid30455036, year = {2018}, author = {Duan, CG and Zhu, JK and Cao, X}, title = {Retrospective and perspective of plant epigenetics in China.}, journal = {Journal of genetics and genomics = Yi chuan xue bao}, volume = {45}, number = {11}, pages = {621-638}, doi = {10.1016/j.jgg.2018.09.004}, pmid = {30455036}, issn = {1673-8527}, mesh = {DNA Methylation ; *Epigenesis, Genetic ; Epigenomics/*history ; Gene Expression Regulation, Plant ; Histones/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Plant Proteins/genetics/metabolism ; Plants/*genetics/metabolism ; }, abstract = {Epigenetics refers to the study of heritable changes in gene function that do not involve changes in the DNA sequence. Such effects on cellular and physiological phenotypic traits may result from external or environmental factors or be part of normal developmental program. In eukaryotes, DNA wraps on a histone octamer (two copies of H2A, H2B, H3 and H4) to form nucleosome, the fundamental unit of chromatin. The structure of chromatin is subjected to a dynamic regulation through multiple epigenetic mechanisms, including DNA methylation, histone posttranslational modifications (PTMs), chromatin remodeling and noncoding RNAs. As conserved regulatory mechanisms in gene expression, epigenetic mechanisms participate in almost all the important biological processes ranging from basal development to environmental response. Importantly, all of the major epigenetic mechanisms in mammalians also occur in plants. Plant studies have provided numerous important contributions to the epigenetic research. For example, gene imprinting, a mechanism of parental allele-specific gene expression, was firstly observed in maize; evidence of paramutation, an epigenetic phenomenon that one allele acts in a single locus to induce a heritable change in the other allele, was firstly reported in maize and tomato. Moreover, some unique epigenetic mechanisms have been evolved in plants. For example, the 24-nt siRNA-involved RNA-directed DNA methylation (RdDM) pathway is plant-specific because of the involvements of two plant-specific DNA-dependent RNA polymerases, Pol IV and Pol V. A thorough study of epigenetic mechanisms is of great significance to improve crop agronomic traits and environmental adaptability. In this review, we make a brief summary of important progress achieved in plant epigenetics field in China over the past several decades and give a brief outlook on future research prospects. We focus our review on DNA methylation and histone PTMs, the two most important aspects of epigenetic mechanisms.}, }
@article {pmid30442340, year = {2018}, author = {Folle, GA}, title = {Chromosomes forever Prof. Máximo Eduardo Drets (1930-2017).}, journal = {Mutation research. Genetic toxicology and environmental mutagenesis}, volume = {836}, number = {Pt B}, pages = {2-3}, doi = {10.1016/j.mrgentox.2018.08.001}, pmid = {30442340}, issn = {1879-3592}, mesh = {*Chromosomes, Human ; Cytogenetics/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30429215, year = {2019}, author = {Uhlenbeck, OC}, title = {Thomas A. Steitz (1940-2018).}, journal = {RNA (New York, N.Y.)}, volume = {25}, number = {2}, pages = {169-172}, pmid = {30429215}, issn = {1469-9001}, mesh = {*Crystallography, X-Ray/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; Nobel Prize ; }, }
@article {pmid30415837, year = {2018}, author = {Posth, C and Nakatsuka, N and Lazaridis, I and Skoglund, P and Mallick, S and Lamnidis, TC and Rohland, N and Nägele, K and Adamski, N and Bertolini, E and Broomandkhoshbacht, N and Cooper, A and Culleton, BJ and Ferraz, T and Ferry, M and Furtwängler, A and Haak, W and Harkins, K and Harper, TK and Hünemeier, T and Lawson, AM and Llamas, B and Michel, M and Nelson, E and Oppenheimer, J and Patterson, N and Schiffels, S and Sedig, J and Stewardson, K and Talamo, S and Wang, CC and Hublin, JJ and Hubbe, M and Harvati, K and Nuevo Delaunay, A and Beier, J and Francken, M and Kaulicke, P and Reyes-Centeno, H and Rademaker, K and Trask, WR and Robinson, M and Gutierrez, SM and Prufer, KM and Salazar-García, DC and Chim, EN and Müller Plumm Gomes, L and Alves, ML and Liryo, A and Inglez, M and Oliveira, RE and Bernardo, DV and Barioni, A and Wesolowski, V and Scheifler, NA and Rivera, MA and Plens, CR and Messineo, PG and Figuti, L and Corach, D and Scabuzzo, C and Eggers, S and DeBlasis, P and Reindel, M and Méndez, C and Politis, G and Tomasto-Cagigao, E and Kennett, DJ and Strauss, A and Fehren-Schmitz, L and Krause, J and Reich, D}, title = {Reconstructing the Deep Population History of Central and South America.}, journal = {Cell}, volume = {175}, number = {5}, pages = {1185-1197.e22}, pmid = {30415837}, issn = {1097-4172}, support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; FC001595/MRC_/Medical Research Council/United Kingdom ; T32 GM007753/GM/NIGMS NIH HHS/United States ; FC001595/CRUK_/Cancer Research UK/United Kingdom ; FC001595/WT_/Wellcome Trust/United Kingdom ; /HHMI/Howard Hughes Medical Institute/United States ; R01 HG006399/HG/NHGRI NIH HHS/United States ; }, mesh = {Central America ; DNA, Ancient/analysis ; DNA, Mitochondrial/genetics ; Gene Flow ; Genetics, Population/*history ; *Genome, Human ; History, Ancient ; Humans ; Models, Theoretical ; South America ; }, abstract = {We report genome-wide ancient DNA from 49 individuals forming four parallel time transects in Belize, Brazil, the Central Andes, and the Southern Cone, each dating to at least ∼9,000 years ago. The common ancestral population radiated rapidly from just one of the two early branches that contributed to Native Americans today. We document two previously unappreciated streams of gene flow between North and South America. One affected the Central Andes by ∼4,200 years ago, while the other explains an affinity between the oldest North American genome associated with the Clovis culture and the oldest Central and South Americans from Chile, Brazil, and Belize. However, this was not the primary source for later South Americans, as the other ancient individuals derive from lineages without specific affinity to the Clovis-associated genome, suggesting a population replacement that began at least 9,000 years ago and was followed by substantial population continuity in multiple regions.}, }
@article {pmid30414532, year = {2019}, author = {Resta, RG}, title = {What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling.}, journal = {European journal of medical genetics}, volume = {62}, number = {5}, pages = {300-307}, doi = {10.1016/j.ejmg.2018.11.003}, pmid = {30414532}, issn = {1878-0849}, mesh = {Genetic Counseling/*history/methods/standards ; History, 20th Century ; History, 21st Century ; Humans ; Outcome and Process Assessment, Health Care ; }, abstract = {Genetic counseling as a formal clinical service was defined in 1947, though the first study of its effectiveness was not published until 1966. This history can be broadly divided in to 3 periods: 1) 1947-1980, when the focus was primarily on prevention of disability, 2) 1981-1995, when the rationales for counseling began to shift and the first studies on the psychosocial effects of genetic counseling started to appear, albeit still largely focused on reproduction, and 3) 1996 - Present, when genetic counselors increased their presence in oncology, cardiology, and other non-reproductive areas of genetic counseling. Changes in outcome measures of genetic counseling have been intertwined with technological advances in genetic testing, better and more sophisticated outcome measures, the growing professional independence and clinical positions of genetic counselors, and the influence of social scientists particularly from behavioral psychology. Despite advances, assessment of the effectiveness of genetic counseling continues is complicated by a lack of widespread agreement about the most appropriate outcome measures as well as research design problems. Broadly speaking though, genetic counseling tends to improve information recall, improve psychological well-being, and is generally well-regarded by patients.}, }
@article {pmid30402778, year = {2019}, author = {Sepkoski, D}, title = {The Unfinished Synthesis?: Paleontology and Evolutionary Biology in the 20th Century.}, journal = {Journal of the history of biology}, volume = {52}, number = {4}, pages = {687-703}, pmid = {30402778}, issn = {1573-0387}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Paleontology/*history ; *Selection, Genetic ; }, abstract = {In the received view of the history of the Modern Evolutionary Synthesis, paleontology was given a prominent role in evolutionary biology thanks to the significant influence of paleontologist George Gaylord Simpson on both the institutional and conceptual development of the Synthesis. Simpson's 1944 Tempo and Mode in Evolution is considered a classic of Synthesis-era biology, and Simpson often remarked on the influence of other major Synthesis figures - such as Ernst Mayr and Theodosius Dobzhansky - on his developing thought. Why, then, did paleontologists of the 1970s and 1980s - Stephen Jay Gould, Niles Eldredge, David M. Raup, Steven Stanley, and others - so frequently complain that paleontology remained marginalized within evolutionary biology? This essay considers three linked questions: first, were paleontologists genuinely welcomed into the Synthetic project during its initial stages? Second, was the initial promise of the role for paleontology realized during the decades between 1950 and 1980, when the Synthesis supposedly "hardened" to an "orthodoxy"? And third, did the period of organized dissent and opposition to this orthodoxy by paleontologists during the 1970s and 1980s bring about a long-delayed completion to the Modern Synthesis, or rather does it highlight the wider failure of any such unified Darwinian evolutionary consensus?}, }
@article {pmid30401760, year = {2018}, author = {Haloupek, N}, title = {Job Dekker: 2018 Edward Novitski Prize.}, journal = {Genetics}, volume = {210}, number = {3}, pages = {745-746}, pmid = {30401760}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {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.}, }
@article {pmid30395331, year = {2019}, author = {, }, title = {The Gene Ontology Resource: 20 years and still GOing strong.}, journal = {Nucleic acids research}, volume = {47}, number = {D1}, pages = {D330-D338}, pmid = {30395331}, issn = {1362-4962}, support = {U41 HG001315/HG/NHGRI NIH HHS/United States ; R01 GM089636/GM/NIGMS NIH HHS/United States ; U41 HG002273/HG/NHGRI NIH HHS/United States ; U41 HG000330/HG/NHGRI NIH HHS/United States ; RG/13/5/30112/BHF_/British Heart Foundation/United Kingdom ; U41 HG007822/HG/NHGRI NIH HHS/United States ; MR/N030117/1/MRC_/Medical Research Council/United Kingdom ; P41 HG000330/HG/NHGRI NIH HHS/United States ; U41 HG000739/HG/NHGRI NIH HHS/United States ; G-1307/PUK_/Parkinson's UK/United Kingdom ; 104967/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Animals ; Bacteria/genetics ; Eukaryota/genetics ; Gene Ontology/*history/organization &amp; administration/trends ; High-Throughput Screening Assays ; History, 20th Century ; History, 21st Century ; Humans ; Mitogen-Activated Protein Kinases/genetics ; Molecular Sequence Annotation ; Quality Control ; }, abstract = {The Gene Ontology resource (GO; http://geneontology.org) provides structured, computable knowledge regarding the functions of genes and gene products. Founded in 1998, GO has become widely adopted in the life sciences, and its contents are under continual improvement, both in quantity and in quality. Here, we report the major developments of the GO resource during the past two years. Each monthly release of the GO resource is now packaged and given a unique identifier (DOI), enabling GO-based analyses on a specific release to be reproduced in the future. The molecular function ontology has been refactored to better represent the overall activities of gene products, with a focus on transcription regulator activities. Quality assurance efforts have been ramped up to address potentially out-of-date or inaccurate annotations. New evidence codes for high-throughput experiments now enable users to filter out annotations obtained from these sources. GO-CAM, a new framework for representing gene function that is more expressive than standard GO annotations, has been released, and users can now explore the growing repository of these models. We also provide the 'GO ribbon' widget for visualizing GO annotations to a gene; the widget can be easily embedded in any web page.}, }
@article {pmid30390178, year = {2018}, author = {Maxson Jones, K and Ankeny, RA and Cook-Deegan, R}, title = {The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {693-805}, pmid = {30390178}, issn = {1573-0387}, support = {R01-HG-008918/HG/NHGRI NIH HHS/United States ; P50-HG-003391//National Human Genome Research Institute (US)/International ; /WT_/Wellcome Trust/United Kingdom ; R01 CA237118/CA/NCI NIH HHS/United States ; R01 HG008918/HG/NHGRI NIH HHS/United States ; P50 HG003391/HG/NHGRI NIH HHS/United States ; }, mesh = {Bermuda ; Genomics/*history/legislation &amp; jurisprudence/standards ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history/legislation &amp; jurisprudence ; Humans ; Information Dissemination/*history/legislation &amp; jurisprudence/methods ; Molecular Biology/*history ; *Organizational Policy ; United Kingdom ; United States ; }, abstract = {The Bermuda Principles for DNA sequence data sharing are an enduring legacy of the Human Genome Project (HGP). They were adopted by the HGP at a strategy meeting in Bermuda in February of 1996 and implemented in formal policies by early 1998, mandating daily release of HGP-funded DNA sequences into the public domain. The idea of daily sharing, we argue, emanated directly from strategies for large, goal-directed molecular biology projects first tested within the "community" of C. elegans researchers, and were introduced and defended for the HGP by the nematode biologists John Sulston and Robert Waterston. In the C. elegans community, and subsequently in the HGP, daily sharing served the pragmatic goals of quality control and project coordination. Yet in the HGP human genome, we also argue, the Bermuda Principles addressed concerns about gene patents impeding scientific advancement, and were aspirational and flexible in implementation and justification. They endured as an archetype for how rapid data sharing could be realized and rationalized, and permitted adaptation to the needs of various scientific communities. Yet in addition to the support of Sulston and Waterston, their adoption also depended on the clout of administrators at the US National Institutes of Health (NIH) and the UK nonprofit charity the Wellcome Trust, which together funded 90% of the HGP human sequencing effort. The other nations wishing to remain in the HGP consortium had to accommodate to the Bermuda Principles, requiring exceptions from incompatible existing or pending data access policies for publicly funded research in Germany, Japan, and France. We begin this story in 1963, with the biologist Sydney Brenner's proposal for a nematode research program at the Laboratory of Molecular Biology (LMB) at the University of Cambridge. We continue through 2003, with the completion of the HGP human reference genome, and conclude with observations about policy and the historiography of molecular biology.}, }
@article {pmid30386945, year = {2018}, author = {Green, ED and Donohue, CR}, title = {Special Issue Editors' Introduction: "Genomics and the Human Genome Project".}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {625-629}, doi = {10.1007/s10739-018-9548-5}, pmid = {30386945}, issn = {1573-0387}, mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; }, }
@article {pmid30386858, year = {2018}, author = {Tan, SY and Furubayashi, JK}, title = {Jacques Lucien Monod (1910-1976): Co-discoverer of the operon system.}, journal = {Singapore medical journal}, volume = {59}, number = {10}, pages = {555-556}, pmid = {30386858}, issn = {0037-5675}, mesh = {France ; History, 20th Century ; Humans ; Molecular Biology/*history ; *Operon ; Philately ; Philosophy ; }, }
@article {pmid30382834, year = {2018}, author = {Hanage, WP}, title = {From bacterial genomics to clinical epidemiology: an interview with Bill Hanage.}, journal = {BMC biology}, volume = {16}, number = {1}, pages = {122}, pmid = {30382834}, issn = {1741-7007}, mesh = {Clinical Medicine/*history ; Epidemiology/*history ; *Genome, Bacterial ; Genomics/*history ; History, 21st Century ; Massachusetts ; Microbiota/genetics ; Peer Review, Research ; Selection, Genetic ; }, abstract = {Bill Hanage is an Associate Professor of Epidemiology at Harvard School of Public Health, where he studies fundamental and applied epidemiology using genomic and evolutionary methods. Bill spoke to us about the different types of selection that determine pathogen populations, asking reviewers to highlight positives of papers, and whether we're closer to a causal framework for studying the microbiome.}, }
@article {pmid30382757, year = {2019}, author = {Roelcke, V}, title = {Eugenic concerns, scientific practices: international relations in the establishment of psychiatric genetics in Germany, Britain, the USA and Scandinavia, c.1910-60.}, journal = {History of psychiatry}, volume = {30}, number = {1}, pages = {19-37}, doi = {10.1177/0957154X18808666}, pmid = {30382757}, issn = {0957-154X}, mesh = {Academies and Institutes/history ; Eugenics/*history ; Genetics/history ; Germany ; History, 20th Century ; Humans ; Internationality/*history ; National Socialism/history ; Psychiatry/*history ; Sweden ; United Kingdom ; United States ; }, abstract = {The article describes the emergence of research programmes, institutions and activities of the early protagonists in the field of psychiatric genetics: Ernst Rüdin in Munich, Eliot Slater in London, Franz Kallmann in New York and Erik Essen-Möller in Lund. During the 1930s and well into the Nazi period, the last three had been research fellows at the German Research Institute for Psychiatry in Munich. It is documented that there was a continuous mutual exchange of scientific ideas and practices between these actors, and that in all four contexts there were intrinsic relations between eugenic motivations and genetic research, but with specific national adaptations.}, }
@article {pmid30369473, year = {2018}, author = {Chen, F and Lu, DR and Zhang, FX and Zhang, GF}, title = {[The development of genetics teaching in China in the last four decades and its future prospect].}, journal = {Yi chuan = Hereditas}, volume = {40}, number = {10}, pages = {916-923}, doi = {10.16288/j.yczz.18-171}, pmid = {30369473}, issn = {0253-9772}, mesh = {China ; Genetics/*education/history/standards ; History, 20th Century ; History, 21st Century ; Humans ; Teaching/education/*history/standards ; }, abstract = {Chinese genetics educators have carried out a comprehensive and systematic exploration and reform since 1978. With the guidance and help of the Genetics Society of China, they have made significant strides in the fields of genetics teaching system, publication of genetics textbooks, content of genetics teaching, workshop on genetics teaching, experimental teaching, application of advanced techniques, etc. These efforts have made remarkable achievements and promoted the vitality of genetics. The comprehensive development of education and teaching has trained a large number of excellent genetic talents for the development of China's economy and society. Here, we sum up the overall achievements of the teaching reform and propose some suggestions on the future development of genetics teaching in China, hoping that the quality of genetics teaching in China will take a new step in the new era.}, }
@article {pmid30369465, year = {2018}, author = {Sun, LY and Xing, QH and He, L}, title = {[Retrospect and prospect of the genetic research on birth defects in China].}, journal = {Yi chuan = Hereditas}, volume = {40}, number = {10}, pages = {800-813}, doi = {10.16288/j.yczz.18-181}, pmid = {30369465}, issn = {0253-9772}, mesh = {Animals ; China ; Congenital Abnormalities/*genetics/history ; Genetic Research/history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {An important part of China's "Healthy China 2030" planning is to lower the rate of birth defects. Because genetic factors contribute solely or collaboratively to about 80% of the occurrence of birth defects, genetic studies on birth defects can provide precise molecular targets for clinical screening, diagnosis and treatment. Genetic research on birth defects in China has developed by leaps and bounds since 1960s. At the same time, as related research achievements keep accumulating, translation of these scientific discoveries to clinical applications, with genetic counseling and testing as the core practices, has been developed and optimized. A close collaboration between genetic researches and clinical applications would provide reliable technical support for giving birth to more "healthy children" in China. This article firstly reviews China's history of genetic research on birth defects, then introduces current situation and hot topics of the research area at home and abroad and finally discusses about future trend and related clinical applications. In summary, an overall view is provided here for the readers to understand the development route of genetic research on birth defects in China.}, }
@article {pmid30361838, year = {2019}, author = {Plutynski, A}, title = {Speciation Post Synthesis: 1960-2000.}, journal = {Journal of the history of biology}, volume = {52}, number = {4}, pages = {569-596}, pmid = {30361838}, issn = {1573-0387}, support = {None//None/International ; }, mesh = {Biological Evolution ; *Genetic Speciation ; Genetics, Population/*history ; History, 20th Century ; Selection, Genetic ; }, abstract = {Speciation-the origin of new species-has been one of the most active areas of research in evolutionary biology, both during, and since the Modern Synthesis. While the Modern Synthesis certainly shaped research on speciation in significant ways, providing a core framework, and set of categories and methods to work with, the history of work on speciation since the mid-twentieth century is a history of divergence and diversification. This piece traces this divergence, through both theoretical advances, and empirical insights into how different lineages, with different genetics and ecological conditions, are shaped by very different modes of diversification.}, }
@article {pmid30359186, year = {2018}, author = {Goldberg-Smith, P}, title = {Lisa Dorn.}, journal = {Circulation research}, volume = {123}, number = {10}, pages = {1115-1117}, doi = {10.1161/CIRCRESAHA.118.314188}, pmid = {30359186}, issn = {1524-4571}, mesh = {*Awards and Prizes ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, }
@article {pmid30355135, year = {2018}, author = {Ince, S}, title = {Roger J. Hajjar.}, journal = {Circulation research}, volume = {123}, number = {5}, pages = {524-527}, doi = {10.1161/CIRCRESAHA.118.313728}, pmid = {30355135}, issn = {1524-4571}, mesh = {Biomedical Engineering/*history ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Regenerative Medicine/*history ; }, }
@article {pmid30350303, year = {2019}, author = {Xia, Z and Tian, J and Wang, X and Yang, H}, title = {In memory of Prof. C. C. Li.}, journal = {Protein &amp; cell}, volume = {10}, number = {6}, pages = {389-392}, pmid = {30350303}, issn = {1674-8018}, mesh = {China ; Genetics/*history ; History, 20th Century ; United States ; }, }
@article {pmid30338423, year = {2018}, author = {Rajagopalan, RM and Fujimura, JH}, title = {Variations on a Chip: Technologies of Difference in Human Genetics Research.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {841-873}, pmid = {30338423}, issn = {1573-0387}, support = {R03HG005030/HG/NHGRI NIH HHS/United States ; R03HG006571/HG/NHGRI NIH HHS/United States ; 0621022//National Science Foundation/International ; }, mesh = {*Genetic Markers ; Genomics/*history ; History, 20th Century ; Human Genome Project/history ; Humans ; Oligonucleotide Array Sequence Analysis/*history ; *Polymorphism, Single Nucleotide ; }, abstract = {In this article we examine the history of the production of microarray technologies and their role in constructing and operationalizing views of human genetic difference in contemporary genomics. Rather than the "turn to difference" emerging as a post-Human Genome Project (HGP) phenomenon, interest in individual and group differences was a central, motivating concept in human genetics throughout the twentieth century. This interest was entwined with efforts to develop polymorphic "genetic markers" for studying human traits and diseases. We trace the technological, methodological and conceptual strategies in the late twentieth century that established single nucleotide polymorphisms (SNPs) as key focal points for locating difference in the genome. By embedding SNPs in microarrays, researchers created a technology that they used to catalog and assess human genetic variation. In the process of making genetic markers and array-based technologies to track variation, scientists also made commitments to ways of describing, cataloging and "knowing" human genetic differences that refracted difference through a continental geographic lens. We show how difference came to matter in both senses of the term: difference was made salient to, and inscribed on, genetic matter(s), as a result of the decisions, assessments and choices of collaborative and hybrid research collectives in medical genomics research.}, }
@article {pmid30337139, year = {2018}, author = {Lowe, JWE}, title = {Sequencing through thick and thin: Historiographical and philosophical implications.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {72}, number = {}, pages = {10-27}, doi = {10.1016/j.shpsc.2018.10.007}, pmid = {30337139}, issn = {1879-2499}, mesh = {Animals ; *Genome ; Genomics/*history ; *Historiography ; History, 21st Century ; *Philosophy ; Sequence Analysis, DNA/history/*veterinary ; Sus scrofa/*genetics ; }, abstract = {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.}, }
@article {pmid30307501, year = {2018}, author = {}, title = {Society for Glycobiology Awards - 2018.}, journal = {Glycobiology}, volume = {28}, number = {12}, pages = {906-909}, doi = {10.1093/glycob/cwy086}, pmid = {30307501}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Glycomics/*history ; History, 21st Century ; Societies, Scientific/history ; }, }
@article {pmid30296836, year = {2019}, author = {Womack, JEJ}, title = {Mapping Genes Is Good for You.}, journal = {Annual review of animal biosciences}, volume = {7}, number = {}, pages = {1-16}, doi = {10.1146/annurev-animal-020518-114902}, pmid = {30296836}, issn = {2165-8110}, mesh = {Animals ; Breeding/history ; Cattle/*genetics ; Chromosome Mapping/history/*veterinary ; Genome/*genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {I abandoned my original career choice of high school teaching to pursue dentistry and soon abandoned that path for genetics. The latter decision was due to a challenge by a professor that led to me reading Nobel speeches by pioneer geneticists before I had formal exposure to the subject. Even then, I was 15 years into my career before my interest in rodent genomes gave way to mapping cattle genes. Events behind these twists and turns in my career path comprise the first part of this review. The remainder is a review of the development of the field of bovine genomics from my personal perspective. I have had the pleasure of working with outstanding graduate students, postdocs, and colleagues to contribute my small part to a discipline that has evolved from a few individuals mapping an orphan genome to a discipline underlying a revolution in animal breeding.}, }
@article {pmid30289603, year = {2018}, author = {Groden, J and Passarge, E}, title = {In memoriam James L. German, a pioneer in early human genetic research.}, journal = {American journal of medical genetics. Part A}, volume = {176}, number = {12}, pages = {2543-2544}, doi = {10.1002/ajmg.a.40513}, pmid = {30289603}, issn = {1552-4833}, mesh = {*Famous Persons ; *Genetic Research/history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30287513, year = {2018}, author = {van Dijk, PJ and Weissing, FJ and Ellis, THN}, title = {How Mendel's Interest in Inheritance Grew out of Plant Improvement.}, journal = {Genetics}, volume = {210}, number = {2}, pages = {347-355}, pmid = {30287513}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 19th Century ; Plant Breeding/*history/methods ; Plant Diseases ; }, abstract = {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.}, }
@article {pmid30287512, year = {2018}, author = {Haloupek, N}, title = {Philip Hieter: 2018 George W. Beadle Award.}, journal = {Genetics}, volume = {210}, number = {2}, pages = {345-346}, pmid = {30287512}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {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.}, }
@article {pmid30266658, year = {2018}, author = {Scherrer, K}, title = {Primary transcripts: From the discovery of RNA processing to current concepts of gene expression - Review.}, journal = {Experimental cell research}, volume = {373}, number = {1-2}, pages = {1-33}, doi = {10.1016/j.yexcr.2018.09.011}, pmid = {30266658}, issn = {1090-2422}, mesh = {Cell Nucleus/genetics ; Gene Expression ; *Gene Expression Regulation ; Genetics/history ; Genome ; History, 20th Century ; History, 21st Century ; Nuclear Matrix/chemistry ; RNA Processing, Post-Transcriptional ; Transcription, Genetic ; }, abstract = {The main purpose of this review is to recall for investigators - and in particular students -, some of the early data and concepts in molecular genetics and biology that are rarely cited in the current literature and are thus invariably overlooked. There is a growing tendency among editors and reviewers to consider that only data produced in the last 10-20 years or so are pertinent. However this is not the case. In exact science, sound data and lucid interpretation never become obsolete, and even if forgotten, will resurface sooner or later. In the field of gene expression, covered in the present review, recent post-genomic data have indeed confirmed many of the earlier results and concepts developed in the mid-seventies, well before the start of the recombinant DNA revolution. Human brains and even the most powerful computers, have difficulty in handling and making sense of the overwhelming flow of data generated by recent high-throughput technologies. This was easier when low throughput, more integrative methods based on biochemistry and microscopy dominated biological research. Nowadays, the need for organising concepts is ever more important, otherwise the mass of available data can generate only "building ruins" - the bricks without an architect. Concepts such as pervasive transcription of genomes, large genomic domains, full domain transcripts (FDTs) up to 100 kb long, the prevalence of post-transcriptional events in regulating eukaryotic gene expression, and the 3D-genome architecture, were all developed and discussed before 1990, and are only now coming back into vogue. Thus, to review the impact of earlier concepts on later developments in the field, I will confront former and current data and ideas, including a discussion of old and new methods. Whenever useful, I shall first briefly report post-genomic developments before addressing former results and interpretations. Equally important, some of the terms often used sloppily in scientific discussions will be clearly defined. As a basis for the ensuing discussion, some of the issues and facts related to eukaryotic gene expression will first be introduced. In chapter 2 the evolution in perception of biology over the last 60 years and the impact of the recombinant DNA revolution will be considered. Then, in chapter 3 data and theory concerning the genome, gene expression and genetics will be reviewed. The experimental and theoretical definition of the gene will be discussed before considering the 3 different types of genetic information - the "Triad" - and the importance of post-transcriptional regulation of gene expression in the light of the recent finding that 90% of genomic DNA seems to be transcribed. Some previous attempts to provide a conceptual framework for these observations will be recalled, in particular the "Cascade Regulation Hypothesis" (CRH) developed in 1967-85, and the "Gene and Genon" concept proposed in 2007. A knowledge of the size of primary transcripts is of prime importance, both for experimental and theoretical reasons, since these molecules represent the primary units of the "RNA genome" on which most of the post-transcriptional regulation of gene expression occurs. In chapter 4, I will first discuss some current post-genomic topics before summarising the discovery of the high Mr-RNA transcripts, and the investigation of their processing spanning the last 50 years. Since even today, a consensus concerning the real form of primary transcripts in eukaryotic cells has not yet been reached, I will refer to the viral and specialized cellular models which helped early on to understand the mechanisms of RNA processing and differential splicing which operate in cells and tissues. As a well-studied example of expression and regulation of a specific cellular gene in relation to differentiation and pathology, I will discuss the early and recent work on expression of the globin genes in nucleated avian erythroblasts. An important concept is that the primary transcript not only embodies protein-coding information and regulation of its expression, but also the 3D-structure of the genomic DNA from which it was derived. The wealth of recent post-genomic data published in this field emphasises the importance of a fundamental principle of genome organisation and expression that has been overlooked for years even though it was already discussed in the 1970-80ties. These issues are addressed in chapter 5 which focuses on the involvement of the nuclear matrix and nuclear architecture in DNA and RNA biology. This section will make reference to the Unified Matrix Hypothesis (UMH), which was the first molecular model of the 3D organisation of DNA and RNA. The chapter on the "RNA-genome and peripheral memories" discusses experimental data on the ribonucleoprotein complexes containing pre-mRNA (pre-mRNPs) and mRNA (mRNPs) which are organised in nuclear and cytoplasmic spaces respectively. Finally, "Outlook " will enumerate currently unresolved questions in the field, and will propose some ideas that may encourage further investigation, and comprehension of available experimental data still in need of interpretation. In chapter 8, some propositions and paradigms basic to the authors own analysis are discussed. "In conclusion" the raison d'être of this review is recalled and positioned within the overall framework of scientific endeavour.}, }
@article {pmid30265852, year = {2018}, author = {Jonna, S and Giaccone, G and Subramaniam, DS}, title = {Understanding molecular diagnostic technology in oncology through the lens of lung cancer.}, journal = {Discovery medicine}, volume = {26}, number = {141}, pages = {21-29}, pmid = {30265852}, issn = {1944-7930}, mesh = {High-Throughput Nucleotide Sequencing ; History, 21st Century ; Humans ; Lung Neoplasms/drug therapy/*genetics ; *Medical Oncology ; Pathology, Molecular/history/*methods ; Protein Kinase Inhibitors/therapeutic use ; }, abstract = {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.}, }
@article {pmid30264379, year = {2018}, author = {Nicoglou, A}, title = {Waddington's epigenetics or the pictorial meetings of development and genetics.}, journal = {History and philosophy of the life sciences}, volume = {40}, number = {4}, pages = {61}, doi = {10.1007/s40656-018-0228-8}, pmid = {30264379}, issn = {0391-9714}, support = {ANR-11-IDEX-0005-02//French government through its "Investments for the Future" Program operated by the French National Research Agency (ANR)/ ; }, mesh = {Animals ; Biological Evolution ; Developmental Biology/*history ; Embryology/*history ; *Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; }, abstract = {In 1956, in his Principles of Embryology, Conrad Hal Waddington explained that the word "epigenetics" should be used to translate and update Wilhelm Roux' German notion of "Entwicklungsmechanik" (1890) to qualify the studies focusing on the mechanisms of development. When Waddington mentioned it in 1956, the notion of epigenetics was not yet popular, as it would become from the 1980s. However, Waddington referred first to the notion in the late 1930s. While his late allusion clearly reveals that Waddington readily associated the notion of epigenetics with the developmental process, in the contemporary uses of the notion this developmental connotation seems to have disappeared. The advent and success of molecular biology have probably contributed to focusing biologists' attention on the "genetic" or the "non-genetic" over the "developmental". In the present paper, I first examine the links that exist, in Waddington's work, between the classical notion of epigenesis in embryology and those of epigenetics that Waddington proposed to connect, and even synthesize, data both from embryology and genetics. Second, I show that Waddington's own view of epigenetics has changed over time and I analyze how these changes appear through his many representations (both schematic or metaphorical images) of the relationships between genetic signals and developmental processes.}, }
@article {pmid30224294, year = {2018}, author = {Leeming, W and Barahona, A}, title = {Synthesis, convergence, and differences in the entangled histories of cytogenetics in medicine: A comparative study of Canada and Mexico.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {71}, number = {}, pages = {8-16}, doi = {10.1016/j.shpsc.2018.08.002}, pmid = {30224294}, issn = {1879-2499}, mesh = {Canada ; Cytogenetics/*history ; History of Medicine ; History, 20th Century ; Humans ; Mexico ; }, abstract = {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.}, }
@article {pmid30216089, year = {2018}, author = {Wilson, JM}, title = {University Flunk-Out to Genomics Pioneer: An Interview with George Church, PhD.}, journal = {Human gene therapy. Clinical development}, volume = {29}, number = {3}, pages = {118-120}, doi = {10.1089/humc.2018.29035.int}, pmid = {30216089}, issn = {2324-8645}, mesh = {Genetic Therapy/*trends ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Universities ; }, }
@article {pmid30200847, year = {2018}, author = {Gottesman, S}, title = {Introduction.}, journal = {Annual review of microbiology}, volume = {72}, number = {}, pages = {i-ii}, doi = {10.1146/annurev-mi-72-070918-100001}, pmid = {30200847}, issn = {1545-3251}, mesh = {*Editorial Policies ; History, 20th Century ; History, 21st Century ; Microbiology/*history ; Molecular Biology/*history ; *Periodicals as Topic ; }, }
@article {pmid30200806, year = {2018}, author = {Lieberman, J}, title = {Unveiling the RNA World.}, journal = {The New England journal of medicine}, volume = {379}, number = {13}, pages = {1278-1280}, doi = {10.1056/NEJMcibr1808725}, pmid = {30200806}, issn = {1533-4406}, mesh = {*Awards and Prizes ; Female ; History, 21st Century ; Humans ; Mentors/*history ; Molecular Biology/*history ; *RNA/physiology ; RNA, Small Untranslated/physiology ; Sexism/prevention &amp; control ; United States ; }, }
@article {pmid30199851, year = {2018}, author = {Jackson, S}, title = {RNA biologist Joan Steitz awarded the 2018 Lasker~Koshland Special Achievement prize.}, journal = {The Journal of clinical investigation}, volume = {128}, number = {10}, pages = {4195-4197}, pmid = {30199851}, issn = {1558-8238}, mesh = {Animals ; *Awards and Prizes ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; RNA Splicing/*physiology ; RNA, Messenger/*physiology ; }, }
@article {pmid30194700, year = {2019}, author = {Balzi, E and Moye-Rowley, WS}, title = {Unveiling the transcriptional control of pleiotropic drug resistance in Saccharomyces cerevisiae: Contributions of André Goffeau and his group.}, journal = {Yeast (Chichester, England)}, volume = {36}, number = {4}, pages = {195-200}, pmid = {30194700}, issn = {1097-0061}, support = {R01 GM049825/GM/NIGMS NIH HHS/United States ; }, mesh = {ATP-Binding Cassette Transporters ; Antifungal Agents/*pharmacology ; DNA-Binding Proteins/genetics ; Drug Resistance, Multiple, Fungal/*genetics ; *Gene Expression Regulation, Fungal ; History, 20th Century ; History, 21st Century ; Membrane Proteins/genetics ; Molecular Biology/history ; Saccharomyces cerevisiae/*drug effects/*genetics ; Saccharomyces cerevisiae Proteins/genetics ; Transcription Factors/genetics ; }, abstract = {Studies in the yeast Saccharomyces cerevisiae have provided much of the basic detail underlying the organization and regulation of multiple or pleiotropic drug resistance gene network in eukaryotic microbes. As with many aspects of yeast biology, the initial observations that drove the eventual molecular characterization of multidrug resistance gene were provided by genetics. This review focuses on contributions from the laboratory of Dr. André Goffeau that uncovered key aspects of the transcriptional regulation of these multidrug resistance genes. André's group made many seminal discoveries that helped lead to the current picture we have of how eukaryotic microbes respond to and deal with a variety of antifungal agents. The importance of the transcriptional contribution to antifungal drugs is illustrated by the large number of drug resistant mutants found in several yeast species that lead to increased activity of transcriptional regulators. The characterization of the Saccharomyces cerevisiae PDR1 gene by the Goffeau group provided the first molecular basis explaining the link between this hyperactive transcription factor and drug resistance.}, }
@article {pmid30190332, year = {2018}, author = {Harding, SE and Channell, G and Phillips-Jones, MK}, title = {The discovery of hydrogen bonds in DNA and a re-evaluation of the 1948 Creeth two-chain model for its structure.}, journal = {Biochemical Society transactions}, volume = {46}, number = {5}, pages = {1171-1182}, pmid = {30190332}, issn = {1470-8752}, support = {//Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Animals ; Base Pairing ; Cattle ; DNA/*chemistry ; DNA Damage ; DNA Replication ; History, 20th Century ; Hydrogen ; *Hydrogen Bonding ; Hydrogen-Ion Concentration ; Molecular Biology/*history ; Nucleic Acid Conformation ; Nucleotides/chemistry ; Thymus Gland/chemistry ; Viscosity ; }, abstract = {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.}, }
@article {pmid30170112, year = {2019}, author = {Jorrin-Novo, JV and Komatsu, S and Sanchez-Lucas, R and Rodríguez de Francisco, LE}, title = {Gel electrophoresis-based plant proteomics: Past, present, and future. Happy 10th anniversary Journal of Proteomics!.}, journal = {Journal of proteomics}, volume = {198}, number = {}, pages = {1-10}, doi = {10.1016/j.jprot.2018.08.016}, pmid = {30170112}, issn = {1876-7737}, mesh = {Anniversaries and Special Events ; *Electrophoresis, Gel, Two-Dimensional/history/trends ; History, 21st Century ; Periodicals as Topic ; Plant Proteins/*metabolism ; Plants/*metabolism ; *Proteomics/history/trends ; }, abstract = {In this century we have assisted at an unimaginable expansion of proteomics, with continuous innovations and optimizations in methods, techniques, protocols, equipment, and associated bioinformatics tools. We have moved forward very fast from first (gel electrophoresis based), to second (based on isotopic or isobaric labelling), to third (shotgun or gel-free, label-free), and to fourth (targeted, mass-western, or SRM/MRM) generation techniques. This evolution is clearly observed in the literature since 1994, when the term "proteome" was first coined, with plant proteomics progressing at a much lower speed than human and other model organisms. The question behind this review is: Is gel electrophoresis an obsolete technique? Is it still alive? The answer is that gel electrophoresis is still a valid technique, with its own particularities, strengths, and weaknesses, "irreplaceable" in top-down experiments directed at investigating protein species, loci and allelic variants, and isoforms, as well as in the post-translational modifications and interactions studies; it is an excellent complementary and alternative approach that could lead us to achieve a deeper visualization and knowledge of the cell proteome. The past, present, and future of this technique is being reviewed. It is not pretended to discuss in detail technical aspects, referring to key original papers or previous reviews, but instead, how it has contributed, from a historical perspective, to plant proteomics and biology research. It is our personal congratulations to "Journal of Proteomics" that celebrates this year its 10th anniversary, and, at the same time, a tribute to those scientists who have contributed to the establishment and development of the gel electrophoresis technique and its application to proteomics and plant biology research. Their direct or indirect teaching has been very valuable to those of us who once decided to enter proteomics, with no access to any sophisticated and expensive equipment. This gel electrophoresis-based plant proteomics review is divided into the following sections: introduction, history, methodology, contribution to plant biology research, and future directions.}, }
@article {pmid30166445, year = {2018}, author = {Schaeffer, SW}, title = {Muller "Elements" in Drosophila: How the Search for the Genetic Basis for Speciation Led to the Birth of Comparative Genomics.}, journal = {Genetics}, volume = {210}, number = {1}, pages = {3-13}, pmid = {30166445}, issn = {1943-2631}, support = {R01 GM098478/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Chromosome Mapping/methods/*trends ; Chromosomes ; Comparative Genomic Hybridization/*history/methods/trends ; Drosophila/genetics/metabolism ; Evolution, Molecular ; Genetic Linkage/genetics ; Genetic Speciation ; Genome/genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Synteny ; }, abstract = {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.}, }
@article {pmid30154566, year = {2018}, author = {Zatz, M}, title = {Helping our country as women scientists.}, journal = {Nature cell biology}, volume = {20}, number = {9}, pages = {1012}, doi = {10.1038/s41556-018-0161-9}, pmid = {30154566}, issn = {1476-4679}, mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Leadership ; Mentors/history ; Research Personnel/*history ; Stem Cell Research/*history ; Women, Working/*history ; }, }
@article {pmid30154559, year = {2018}, author = {Schuh, M}, title = {Taking a confident leap into uncertainty.}, journal = {Nature cell biology}, volume = {20}, number = {9}, pages = {1007}, doi = {10.1038/s41556-018-0177-1}, pmid = {30154559}, issn = {1476-4679}, support = {MC_U105192711//Medical Research Council/United Kingdom ; }, mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Research Personnel/*history ; Women, Working/*history ; Work-Life Balance ; }, }
@article {pmid30154558, year = {2018}, author = {Nik-Zainal, S}, title = {The duty to speak up.}, journal = {Nature cell biology}, volume = {20}, number = {9}, pages = {1006}, doi = {10.1038/s41556-018-0171-7}, pmid = {30154558}, issn = {1476-4679}, support = {100183//Wellcome Trust/United Kingdom ; A22932//Cancer Research UK/United Kingdom ; A23433//Cancer Research UK/United Kingdom ; A23916//Cancer Research UK/United Kingdom ; }, mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research Personnel/*history ; Sexism/*history ; Women, Working/*history ; }, }
@article {pmid30154552, year = {2018}, author = {Akhtar, A}, title = {Finding your way through the science maze.}, journal = {Nature cell biology}, volume = {20}, number = {9}, pages = {1000}, doi = {10.1038/s41556-018-0175-3}, pmid = {30154552}, issn = {1476-4679}, mesh = {Biomedical Research/*history ; *Career Choice ; Career Mobility ; Female ; *Gender Identity ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research Personnel/*history ; Women, Working/*history ; }, }
@article {pmid30152010, year = {2019}, author = {Walsh, CA}, title = {Rainer W. Guillery and the genetic analysis of brain development.}, journal = {The European journal of neuroscience}, volume = {49}, number = {7}, pages = {900-908}, pmid = {30152010}, issn = {1460-9568}, support = {R01 NS032457/NS/NINDS NIH HHS/United States ; R01 MH083565/MH/NIMH NIH HHS/United States ; U01 MH106883/MH/NIMH NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; R37 NS035129/NS/NINDS NIH HHS/United States ; R01 NS035129/NS/NINDS NIH HHS/United States ; R01NS032457/NS/NINDS NIH HHS/United States ; //Paul G. Allen Family Foundation/International ; U01MH106883/MH/NIMH NIH HHS/United States ; }, mesh = {Animals ; Brain/growth &amp; development/metabolism/*physiology ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Neurogenesis/genetics ; Neurosciences/*history ; }, abstract = {Ray Guillery had broad research interests that spanned cellular neuroanatomy, but was perhaps best known for his investigation of the connectivity and function of the thalamus, especially the visual pathways. His work on the genetics of abnormal vision in albino mammals served as an early paradigm for genetic approaches for studying brain connectivity of complex species in general, and remains of major relevance today. This work, especially on the Siamese cat, illustrates the complex relationship between genotype and physiology of cerebral cortical circuits, and anticipated many of the issues underlying the imperfect relationship between genes, circuits, and behavior in mammalian species including human. This review also briefly summarizes studies from our own lab inspired by Ray Guillery's legacy that continues to explore the relationship between genes, structure, and behavior in human cerebral cortex.}, }
@article {pmid30140966, year = {2018}, author = {November, J}, title = {More than Moore's Mores: Computers, Genomics, and the Embrace of Innovation.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {807-840}, pmid = {30140966}, issn = {1573-0387}, mesh = {Computers/*statistics &amp; numerical data ; Genomics/*history/instrumentation ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Inventions/*statistics &amp; numerical data ; National Human Genome Research Institute (U.S.)/*history ; United States ; }, abstract = {The genomics community has frequently compared advances in sequencing to advances in microelectronics. Lately there have been many claims, including by the National Human Genome Research Institute (NHGRI), that genomics is outpacing developments in computing as measured by Moore's law - the notion that computers double in processing capability per dollar spent every 18-24 months. Celebrations of the "$1000 genome" and other speed-related sequencing milestones might be dismissed as a distraction from genomics' slowness in delivering clinical breakthroughs, but the fact that such celebrations have been persistently encouraged by the NHGRI reveals a great deal about the priorities and expectations of the American general public, the intended audience of the genomics-computing comparison. By delving into the history of speculative thinking about sequencing and computing, this article demonstrates just how much more receptive to high-risk/high-payoff ventures the NIH and the general public have become. The article also provides access to some of the roots and consequences of the association of "innovation talk" with genomics, and the means to look past that association to the less glamorous (but arguably much more important) contributions of the NHGRI to building the field of genomics.}, }
@article {pmid30136864, year = {2018}, author = {Mezquita-Pla, J}, title = {Gordon H. Dixon's trace in my personal career and the quantic jump experienced in regulatory information.}, journal = {Systems biology in reproductive medicine}, volume = {64}, number = {6}, pages = {448-468}, doi = {10.1080/19396368.2018.1503752}, pmid = {30136864}, issn = {1939-6376}, mesh = {Animals ; *Gene Expression Regulation ; Genomics/*history ; Histones/*physiology ; History, 20th Century ; History, 21st Century ; RNA/physiology ; }, abstract = {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.}, }
@article {pmid30108194, year = {2018}, author = {Neill, US}, title = {A conversation with Cornelia Bargmann.}, journal = {The Journal of clinical investigation}, volume = {128}, number = {7}, pages = {2655-2656}, doi = {10.1172/JCI122804}, pmid = {30108194}, issn = {1558-8238}, mesh = {Animals ; Caenorhabditis elegans/genetics/physiology ; Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Humans ; Neurosciences/*history ; Organizations ; United States ; }, }
@article {pmid30082466, year = {2019}, author = {Tahmasebi, S and Sonenberg, N and Hershey, JWB and Mathews, MB}, title = {Protein Synthesis and Translational Control: A Historical Perspective.}, journal = {Cold Spring Harbor perspectives in biology}, volume = {11}, number = {9}, pages = {}, doi = {10.1101/cshperspect.a035584}, pmid = {30082466}, issn = {1943-0264}, mesh = {Animals ; Cell Biology/*history ; *Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Oocytes/physiology ; *Protein Biosynthesis ; Reticulocytes/physiology ; Sea Urchins/physiology ; }, abstract = {Protein synthesis and its regulation are central to all known forms of life and impinge on biological arenas as varied as agriculture, biotechnology, and medicine. Otherwise known as translation and translational control, these processes have been investigated with increasing intensity since the middle of the 20th century, and in increasing depth with advances in molecular and cell biology. We review the origins of the field, focusing on the underlying concepts and early studies of the cellular machinery and mechanisms involved. We highlight key discoveries and events on a timeline, consider areas where current research has engendered new ideas, and conclude with some speculation on future directions for the field.}, }
@article {pmid30068681, year = {2018}, author = {Dufresnes, C and Miquel, C and Remollino, N and Biollaz, F and Salamin, N and Taberlet, P and Fumagalli, L}, title = {Howling from the past: historical phylogeography and diversity losses in European grey wolves.}, journal = {Proceedings. Biological sciences}, volume = {285}, number = {1884}, pages = {}, pmid = {30068681}, issn = {1471-2954}, mesh = {Animals ; DNA, Mitochondrial ; Europe ; *Genetic Variation ; Genetics, Population ; Haplotypes ; History, 19th Century ; History, 20th Century ; Phylogeography/history ; Population Dynamics ; Sequence Analysis, DNA ; Wolves/*genetics ; }, abstract = {Genetic bottlenecks resulting from human-induced population declines make alarming symbols for the irreversible loss of our natural legacy worldwide. The grey wolf (Canis lupus) is an iconic example of extreme declines driven by anthropogenic factors. Here, we assessed the genetic signatures of 150 years of wolf persecution throughout the Western Palaearctic by high-throughput mitochondrial DNA sequencing of historical specimens in an unprecedented spatio-temporal framework. Despite Late Pleistocene bottlenecks, we show that historical genetic variation had remained high throughout Europe until the last several hundred years. In Western Europe, where wolves nearly got fully exterminated, diversity dramatically collapsed at the turn of the twentieth century and recolonization from few homogeneous relict populations induced drastic shifts of genetic composition. By contrast, little genetic displacement and steady levels of diversity were maintained in Eastern European regions, where human persecution had lesser effects on wolf demography. By comparing prehistoric, historic and modern patterns of genetic diversity, our study hence traces the timeframe and the active human role in the decline of the grey wolf, an emblematic yet controversial animal which symbolizes the complex relationship between human societies and nature conservation.}, }
@article {pmid30061627, year = {2018}, author = {Lombardo, PA}, title = {The power of heredity and the relevance of eugenic history.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {20}, number = {11}, pages = {1305-1311}, doi = {10.1038/s41436-018-0123-4}, pmid = {30061627}, issn = {1530-0366}, mesh = {Eugenics/*history ; Genetics/*history ; Heredity/*genetics ; History, 20th Century ; Humans ; }, }
@article {pmid30055809, year = {2018}, author = {Godde, K}, title = {A new analysis interpreting Nilotic relationships and peopling of the Nile Valley.}, journal = {Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen}, volume = {69}, number = {4}, pages = {147-157}, doi = {10.1016/j.jchb.2018.07.002}, pmid = {30055809}, issn = {1618-1301}, mesh = {Cephalometry ; Chromosomes, Human, Y ; Egypt ; Ethnic Groups/genetics/*history ; Fossils ; Genetics, Population/history ; History, Ancient ; Humans ; Male ; Political Systems/history ; Population Dynamics/history ; }, abstract = {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.}, }
@article {pmid30055084, year = {2018}, author = {Cavalcanti, DP}, title = {Eduardo E. Castilla (1933-2017): El grande TROESMA.}, journal = {American journal of medical genetics. Part A}, volume = {176}, number = {8}, pages = {1701-1702}, doi = {10.1002/ajmg.a.38847}, pmid = {30055084}, issn = {1552-4833}, mesh = {Argentina ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; }, }
@article {pmid30055082, year = {2018}, author = {Carey, JC and Hennekam, RCM and Lin, AE and Barr, M}, title = {M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).}, journal = {American journal of medical genetics. Part A}, volume = {176}, number = {8}, pages = {1703-1705}, doi = {10.1002/ajmg.a.38845}, pmid = {30055082}, issn = {1552-4833}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid30052801, year = {2018}, author = {Schmidt, C and Hubbard, T}, title = {Scientists on the Spot: Sequencing the human genome to influence patient healthcare.}, journal = {Cardiovascular research}, volume = {114}, number = {9}, pages = {e66-e67}, doi = {10.1093/cvr/cvy133}, pmid = {30052801}, issn = {1755-3245}, mesh = {Genetic Predisposition to Disease ; *Genome, Human ; Genome-Wide Association Study/history ; Genomics/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype ; Precision Medicine/*history ; Risk Factors ; Whole Genome Sequencing/*history ; }, }
@article {pmid30027861, year = {2018}, author = {Segal, NL}, title = {Symposium in Honor of Irving I. Gottesman (December 29, 1930-June 29, 2016).}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {21}, number = {4}, pages = {281-284}, doi = {10.1017/thg.2018.29}, pmid = {30027861}, issn = {1832-4274}, mesh = {Animals ; Congresses as Topic ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Twin Studies as Topic ; }, abstract = {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.}, }
@article {pmid30026375, year = {2018}, author = {Goldberg-Smith, P}, title = {David M. Ryba: Pushing the Field Forward.}, journal = {Circulation research}, volume = {123}, number = {3}, pages = {318-319}, doi = {10.1161/CIRCRESAHA.118.313597}, pmid = {30026375}, issn = {1524-4571}, mesh = {Cardiovascular Physiological Phenomena ; Education, Professional ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Physiology/*history ; United States ; }, }
@article {pmid30025565, year = {2018}, author = {Tavaré, S and Buzbas, EO}, title = {Introduction to the Paul Joyce special issue.}, journal = {Theoretical population biology}, volume = {122}, number = {}, pages = {1-2}, doi = {10.1016/j.tpb.2018.07.001}, pmid = {30025565}, issn = {1096-0325}, mesh = {Adaptation, Biological/genetics ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Genetic ; }, }
@article {pmid29927928, year = {2018}, author = {Weinberg, SM and Cornell, R and Leslie, EJ}, title = {Craniofacial genetics: Where have we been and where are we going?.}, journal = {PLoS genetics}, volume = {14}, number = {6}, pages = {e1007438}, pmid = {29927928}, issn = {1553-7404}, mesh = {Animals ; Craniofacial Abnormalities/*genetics ; Genetic Techniques/*trends ; Genetics/history/*trends ; Head/abnormalities/anatomy &amp; histology/*growth &amp; development ; History, 21st Century ; Humans ; Mice ; Models, Animal ; Zebrafish ; }, }
@article {pmid29925256, year = {2018}, author = {Kornfeld, S}, title = {A Lifetime of Adventures in Glycobiology.}, journal = {Annual review of biochemistry}, volume = {87}, number = {}, pages = {1-21}, doi = {10.1146/annurev-biochem-062917-011911}, pmid = {29925256}, issn = {1545-4509}, mesh = {Adaptor Proteins, Vesicular Transport/history/metabolism ; Animals ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mannosephosphates/history/metabolism ; Metabolic Networks and Pathways ; Phosphoric Diester Hydrolases/history/metabolism ; Receptor, IGF Type 2/history/metabolism ; Transferases (Other Substituted Phosphate Groups)/history/metabolism ; United States ; }, abstract = {My initial research experience involved studying how bacteria synthesize nucleotide sugars, the donors for the formation of cell wall polysaccharides. During this time, I became aware that mammalian cells also have a surface coat of sugars and was intrigued as to whether these sugars might be arranged in specific sequences that function as information molecules in biologic processes. Thus began a long journey that has taken me from glycan structural analysis and determination of plant lectin-binding preferences to the biosynthesis of Asn-linked oligosaccharides and the mannose 6-phosphate (Man-6-P) lysosomal enzyme targeting pathway. The Man-6-P system represents an early example of a glycan serving as an information molecule in a fundamental cellular function. The remarkable advances in the field of glycobiology since I entered have uncovered scores of additional examples of oligosaccharide-lectin interactions mediating critical biologic processes. It has been a rewarding experience to participate in the efforts that have established a central role for glycans in biology.}, }
@article {pmid29883004, year = {2019}, author = {LaMantia, AS}, title = {The strengths of the genetic approach to understanding neural systems development and function: Ray Guillery's synthesis.}, journal = {The European journal of neuroscience}, volume = {49}, number = {7}, pages = {888-899}, pmid = {29883004}, issn = {1460-9568}, support = {U54 HD090257/HD/NICHD NIH HHS/United States ; //National Down Syndrome Society/International ; //March of Dimes/International ; //National Institute for Child Health and Human Development/International ; //Brain and Behavior Foundation (NARSAD)/International ; //Simons Foundation/International ; R01 HD042182/HD/NICHD NIH HHS/United States ; //National Institute for Mental Health/International ; //Alfred P. Sloan Foundation/International ; P01 HD083157/HD/NICHD NIH HHS/United States ; //National Institute for Deafness and Communication Disorders/International ; }, mesh = {Animals ; Brain/growth &amp; development/metabolism/*physiology ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Neurogenesis ; Neurosciences/*history ; }, abstract = {The organization and function of sensory systems, especially the mammalian visual system, has been the focus of philosophers and scientists for centuries-from Descartes and Newton onward. Nevertheless, the utility of understanding development and its genetic foundations for deeper insight into neural function has been debated: Do you need to know how something is assembled-a car, for example-to understand how it works or how to use it-to turn on the ignition and drive? This review addresses this issue for sensory pathways. The pioneering work of the late Rainer W. (Ray) Guillery provides an unequivocal answer to this central question: Using genetics for mechanistic exploration of sensory system development yields essential knowledge of organization and function. Ray truly built the foundation for this now accepted tenet of modern neuroscience. His work on the development and reorganization of visual pathways in albino mammals-all with primary genetic mutations in genes for pigmentation-defined the genetic approach to neural systems development, function and plasticity. The work that followed his lead in a variety of sensory systems, including my own work in the developing olfactory system, proceeds directly from Ray's fundamental contributions.}, }
@article {pmid29867264, year = {2018}, author = {Morrison, PJ}, title = {Medical Myths and Legends: Presidential Address to the Ulster Medical Society. 6th October 2016.}, journal = {The Ulster medical journal}, volume = {87}, number = {2}, pages = {102-108}, pmid = {29867264}, issn = {2046-4207}, mesh = {Acromegaly/genetics/history ; Biological Evolution ; Breast Neoplasms/diagnostic imaging/genetics/*history ; Early Detection of Cancer/history ; Female ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Homosexuality, Male/genetics ; Humans ; Male ; Mammography/history ; Northern Ireland ; Parkinson Disease/genetics ; }, }
@article {pmid29857002, year = {2018}, author = {Brownlee, GG}, title = {The Legacy of Fred Sanger-100 Years on from 1918.}, journal = {Journal of molecular biology}, volume = {430}, number = {17}, pages = {2661-2669}, doi = {10.1016/j.jmb.2018.05.034}, pmid = {29857002}, issn = {1089-8638}, mesh = {Genomics/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Insulin/*chemistry/*history ; Sequence Analysis/*history/methods ; }, }
@article {pmid29847176, year = {2018}, author = {Pederson, T}, title = {James Watson at 90.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {32}, number = {6}, pages = {2901-2902}, doi = {10.1096/fj.180601ufm}, pmid = {29847176}, issn = {1530-6860}, mesh = {DNA/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Nobel Prize ; Portraits as Topic ; }, }
@article {pmid29777837, year = {2018}, author = {Kropinski, AM}, title = {Bacteriophage research - What we have learnt and what still needs to be addressed.}, journal = {Research in microbiology}, volume = {169}, number = {9}, pages = {481-487}, doi = {10.1016/j.resmic.2018.05.002}, pmid = {29777837}, issn = {1769-7123}, mesh = {Anti-Bacterial Agents/administration &amp; dosage/adverse effects/history ; *Bacteriophages/classification ; Classification ; Computational Biology/history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Phage Therapy/history ; Research/*history ; Research Design ; }, abstract = {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.}, }
@article {pmid29769227, year = {2018}, author = {Jan, LY and Jan, YN}, title = {Influences: Cold Spring Harbor summer courses and Drosophila melanogaster neurogenetics.}, journal = {The Journal of general physiology}, volume = {150}, number = {6}, pages = {773-775}, pmid = {29769227}, issn = {1540-7748}, mesh = {Animals ; Drosophila melanogaster ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; Potassium Channels/genetics/metabolism ; Taiwan ; United States ; }, }
@article {pmid29722874, year = {2018}, author = {Nguyen, NTT and Contreras-Moreira, B and Castro-Mondragon, JA and Santana-Garcia, W and Ossio, R and Robles-Espinoza, CD and Bahin, M and Collombet, S and Vincens, P and Thieffry, D and van Helden, J and Medina-Rivera, A and Thomas-Chollier, M}, title = {RSAT 2018: regulatory sequence analysis tools 20th anniversary.}, journal = {Nucleic acids research}, volume = {46}, number = {W1}, pages = {W209-W214}, pmid = {29722874}, issn = {1362-4962}, support = {204562/Z/16/Z//Wellcome Trust/United Kingdom ; }, mesh = {Genetic Variation ; Genomics/history ; High-Throughput Nucleotide Sequencing/history ; History, 20th Century ; History, 21st Century ; Internet ; Nucleotide Motifs ; *Regulatory Sequences, Nucleic Acid ; *Software/history ; }, abstract = {RSAT (Regulatory Sequence Analysis Tools) is a suite of modular tools for the detection and the analysis of cis-regulatory elements in genome sequences. Its main applications are (i) motif discovery, including from genome-wide datasets like ChIP-seq/ATAC-seq, (ii) motif scanning, (iii) motif analysis (quality assessment, comparisons and clustering), (iv) analysis of regulatory variations, (v) comparative genomics. Six public servers jointly support 10 000 genomes from all kingdoms. Six novel or refactored programs have been added since the 2015 NAR Web Software Issue, including updated programs to analyse regulatory variants (retrieve-variation-seq, variation-scan, convert-variations), along with tools to extract sequences from a list of coordinates (retrieve-seq-bed), to select motifs from motif collections (retrieve-matrix), and to extract orthologs based on Ensembl Compara (get-orthologs-compara). Three use cases illustrate the integration of new and refactored tools to the suite. This Anniversary update gives a 20-year perspective on the software suite. RSAT is well-documented and available through Web sites, SOAP/WSDL (Simple Object Access Protocol/Web Services Description Language) web services, virtual machines and stand-alone programs at http://www.rsat.eu/.}, }
@article {pmid29717434, year = {2018}, author = {Karlin-Neumann, G and Bizouarn, F}, title = {Entering the Pantheon of 21st Century Molecular Biology Tools: A Perspective on Digital PCR.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1768}, number = {}, pages = {3-10}, doi = {10.1007/978-1-4939-7778-9_1}, pmid = {29717434}, issn = {1940-6029}, mesh = {Biomarkers, Tumor/genetics/*isolation &amp; purification ; Biomedical Research/history/instrumentation/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/*methods ; Neoplasms/*diagnosis/genetics ; Nucleic Acids/genetics/isolation &amp; purification ; Pathology, Molecular/history/instrumentation/methods ; Polymerase Chain Reaction/history/instrumentation/*methods ; }, abstract = {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.}, }
@article {pmid29712681, year = {2019}, author = {Rubin, MA and Demichelis, F}, title = {The Genomics of Prostate Cancer: A Historic Perspective.}, journal = {Cold Spring Harbor perspectives in medicine}, volume = {9}, number = {3}, pages = {}, pmid = {29712681}, issn = {2157-1422}, mesh = {Computational Biology ; DNA Copy Number Variations/genetics ; Drug Resistance, Neoplasm/genetics ; Gene Fusion/genetics ; Gene Rearrangement/genetics ; Genomics/*history ; High-Throughput Nucleotide Sequencing ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Microsatellite Repeats/genetics ; Neoplasm Proteins/genetics ; Polymorphism, Restriction Fragment Length/genetics ; Prostatic Neoplasms/*genetics/history ; }, abstract = {The genomics of prostate cancer (PCA) has been difficult to study compared with some other cancer types for a multitude of reasons, despite significant efforts since the early 1980s. Overcoming some of these obstacles has paved the way for greater insight into the genomics of PCA. The advent of high-throughput technologies coming from the initial use of microsatellite and oligonucleotide probes gave rise to techniques like comparative genomic hybridization (CGH). With the introduction of massively parallel genomic sequencing, referred to as next-generation sequencing (NGS), a deeper understanding of cancer genomics in general has occurred. Along with these technologic advances, there has been the development of computational biology and statistical approaches to address novel large data sets characterized by single base resolution. This review will provide a historic perspective of PCA genomics with an emphasis on the cardinal mutations and alterations observed to be consistently seen in PCA for both hormone-naïve localized PCA and castration-resistant prostate cancer (CRPC). There will be a focus on alterations that have the greatest potential to play a role in disease progression and therapy management.}, }
@article {pmid29696759, year = {2018}, author = {Opitz, JM}, title = {Arno G. Motulsky, 1923-2018, Luck and Service.}, journal = {American journal of medical genetics. Part A}, volume = {176}, number = {6}, pages = {1285-1288}, doi = {10.1002/ajmg.a.38702}, pmid = {29696759}, issn = {1552-4833}, mesh = {Genetics, Medical/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; }, }
@article {pmid29696587, year = {2019}, author = {Fu, L}, title = {Chia-Chen Tan and genetics in modern China.}, journal = {Protein &amp; cell}, volume = {10}, number = {5}, pages = {313-314}, pmid = {29696587}, issn = {1674-8018}, mesh = {China ; Genetics/*education/*history ; History, 20th Century ; }, }
@article {pmid29691669, year = {2018}, author = {Frezza, G and Capocci, M}, title = {Thomas Hunt Morgan and the invisible gene: the right tool for the job.}, journal = {History and philosophy of the life sciences}, volume = {40}, number = {2}, pages = {31}, doi = {10.1007/s40656-018-0196-z}, pmid = {29691669}, issn = {0391-9714}, support = {Futuro in Ricerca 2010-RBFR10Q67A_002//MIUR - Italian Government/ ; }, mesh = {Embryology/*history ; *Genes ; Genetics/*history ; *Heredity ; Historiography ; History, 20th Century ; Models, Genetic ; }, abstract = {The paper analyzes the early theory building process of Thomas Hunt Morgan (1866-1945) from the 1910s to the 1930s and the introduction of the invisible gene as a main explanatory unit of heredity. Morgan's work marks the transition between two different styles of thought. In the early 1900s, he shifted from an embryological study of the development of the organism to a study of the mechanism of genetic inheritance and gene action. According to his contemporaries as well as to historiography, Morgan separated genetics from embryology, and the gene from the whole organism. Other scholars identified an underlying embryological focus in Morgan's work throughout his career. Our paper aims to clarify the debate by concentrating on Morgan's theory building-characterized by his confidence in the power of experimental methods, and carefully avoiding any ontological commitment towards the gene-and on the continuity of the questions to be addressed by both embryology and genetics.}, }
@article {pmid29688283, year = {2018}, author = {Schunkert, H and Samani, NJ}, title = {Into the great wide open: 10 years of genome-wide association studies.}, journal = {Cardiovascular research}, volume = {114}, number = {9}, pages = {1189-1191}, doi = {10.1093/cvr/cvy100}, pmid = {29688283}, issn = {1755-3245}, support = {//British Heart Foundation/United Kingdom ; //Department of Health/United Kingdom ; }, mesh = {Cardiovascular Diseases/diagnosis/*genetics/history/therapy ; Diffusion of Innovation ; Forecasting ; Genetic Predisposition to Disease ; *Genome, Human ; *Genome-Wide Association Study/history/trends ; Genomics/*history ; History, 21st Century ; Humans ; Phenotype ; Risk Factors ; }, }
@article {pmid29688222, year = {2018}, author = {Jarvik, GP}, title = {Arno G. Motulsky, MD (1923-2018): Holocaust survivor who cofounded the field of medical genetics.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {20}, number = {5}, pages = {477-479}, pmid = {29688222}, issn = {1530-0366}, mesh = {*Famous Persons ; France ; *Genetics, Medical/history ; Germany ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid29686077, year = {2018}, author = {Doctrow, B}, title = {QnAs with Howard Y. Chang.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {115}, number = {19}, pages = {4805-4806}, pmid = {29686077}, issn = {1091-6490}, mesh = {Animals ; *Awards and Prizes ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; *RNA, Long Noncoding ; }, }
@article {pmid29685971, year = {2018}, author = {Ganesan, A}, title = {Epigenetics: the first 25 centuries.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {373}, number = {1748}, pages = {}, pmid = {29685971}, issn = {1471-2970}, mesh = {Animals ; *Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; History, 21st Century ; History, Ancient ; Humans ; Plants/genetics ; }, abstract = {Epigenetics is a natural progression of genetics as it aims to understand how genes and other heritable elements are regulated in eukaryotic organisms. The history of epigenetics is briefly reviewed, together with the key issues in the field today. This themed issue brings together a diverse collection of interdisciplinary reviews and research articles that showcase the tremendous recent advances in epigenetic chemical biology and translational research into epigenetic drug discovery.This article is part of a discussion meeting issue 'Frontiers in epigenetic chemical biology'.}, }
@article {pmid29668468, year = {2017}, author = {Pejchinovski, M and Mischak, H}, title = {Clinical Proteomics in Kidney Disease: From Discovery to Clinical Application.}, journal = {Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)}, volume = {38}, number = {3}, pages = {39-54}, doi = {10.2478/prilozi-2018-0005}, pmid = {29668468}, issn = {1857-9345}, mesh = {Animals ; Biomarkers/metabolism ; Clinical Decision-Making ; History, 20th Century ; History, 21st Century ; Humans ; Kidney/*metabolism/physiopathology ; *Nephrology/history/trends ; Patient Selection ; Predictive Value of Tests ; Prognosis ; Proteins/*metabolism ; *Proteomics/history/trends ; Renal Insufficiency, Chronic/diagnosis/*metabolism/physiopathology/therapy ; }, abstract = {Proteome analysis has been applied in multiple studies in the context of chronic kidney disease, aiming at improving our knowledge on the molecular pathophysiology of the disease. The approach is generally based on the hypothesis that proteins are key in maintaining kidney function, and disease is a clinical consequence of a significant change of the protein level. Knowledge on critical proteins and their alteration in disease should in turn enable identification of ideal biomarkers that could guide patient management. In addition, all drugs currently employed target proteins. Hence, proteome analysis also promises to enable identifying the best suited therapeutic target, and, in combination with biomarkers, could be used as the rationale basis for personalized intervention. To assess the current status of proteome analysis in the context of CKD, we present the results of a systematic review, of up-to-date scientific research, and give an outlook on the developments that can be expected in near future. Based on the current literature, proteome analysis has already seen implementation in the management of CKD patients, and it is expected that this approach, also supported by the positive results generated to date, will see advanced high-throughput application.}, }
@article {pmid29663716, year = {2018}, author = {Elloumi-Zghal, H and Chaabouni Bouhamed, H}, title = {Genetics and genomic medicine in Tunisia.}, journal = {Molecular genetics &amp; genomic medicine}, volume = {6}, number = {2}, pages = {134-159}, pmid = {29663716}, issn = {2324-9269}, mesh = {Delivery of Health Care/trends ; Genetics/history/*trends ; Genomics/history/*trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Medicine/trends ; Tunisia/epidemiology ; }, }
@article {pmid29663715, year = {2018}, author = {Leppig, KA}, title = {Collaborations in medical genetics: 10-Year history of an ongoing Vietnamese-North American Collaboration.}, journal = {Molecular genetics &amp; genomic medicine}, volume = {6}, number = {2}, pages = {129-133}, pmid = {29663715}, issn = {2324-9269}, mesh = {Education ; Genetics/education/history ; Genetics, Medical/*trends ; History, 20th Century ; Humans ; International Cooperation/history ; Intersectoral Collaboration ; Social Behavior ; United States ; Vietnam ; }, }
@article {pmid29650627, year = {2018}, author = {Williams, R}, title = {Rajat Gupta: A Scientist in Doctor's Clothing.}, journal = {Circulation research}, volume = {122}, number = {8}, pages = {1044-1045}, doi = {10.1161/CIRCRESAHA.118.313077}, pmid = {29650627}, issn = {1524-4571}, mesh = {Boston ; Cardiology/*history ; Coronary Disease/genetics/history ; Cytokines/history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Michigan ; }, }
@article {pmid29636542, year = {2018}, author = {La Gruta, NL and Gras, S and Daley, SR and Thomas, PG and Rossjohn, J}, title = {Understanding the drivers of MHC restriction of T cell receptors.}, journal = {Nature reviews. Immunology}, volume = {18}, number = {7}, pages = {467-478}, doi = {10.1038/s41577-018-0007-5}, pmid = {29636542}, issn = {1474-1741}, mesh = {Animals ; Antibody Diversity ; Evolution, Molecular ; Histocompatibility Antigens Class I/chemistry/genetics ; Histocompatibility Antigens Class II/chemistry/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/history ; *Major Histocompatibility Complex ; Models, Genetic ; Models, Immunological ; Models, Molecular ; Receptors, Antigen, T-Cell/chemistry/*genetics/*immunology ; Signal Transduction/genetics/immunology ; Systems Biology ; T-Lymphocytes/immunology ; }, abstract = {T cell discrimination of self and non-self is predicated on αβ T cell receptor (TCR) co-recognition of peptides presented by MHC molecules. Over the past 20 years, structurally focused investigations into this MHC-restricted response have provided profound insights into T cell function. Simultaneously, two models of TCR recognition have emerged, centred on whether the TCR has, through evolution, acquired an intrinsic germline-encoded capacity for MHC recognition or whether MHC reactivity is conferred by developmental selection of TCRs. Here, we review the structural and functional data that pertain to these theories of TCR recognition, which indicate that it will be necessary to assimilate features of both models to fully account for the molecular drivers of this evolutionarily ancient interaction between the TCR and MHC molecules.}, }
@article {pmid29614285, year = {2018}, author = {Goldstein, B}, title = {On Francis Crick, the genetic code, and a clever kid.}, journal = {Current biology : CB}, volume = {28}, number = {7}, pages = {R305}, doi = {10.1016/j.cub.2018.02.058}, pmid = {29614285}, issn = {1879-0445}, mesh = {Evolution, Molecular ; Genes/*physiology ; *Genetic Code ; History, 20th Century ; Humans ; Models, Biological ; Molecular Biology/*history ; }, abstract = {A few years ago, Francis Crick's son told me a story that I can't get out of my mind. I had contacted Michael Crick by email while digging through the background of the researchers who had cracked the genetic code in the 1960s. Francis had died in 2004, and I was contacting some of the people who knew him when he was struggling to decipher the code. Francis didn't appear to struggle often - he is known mostly for his successes - and, as it turns out, this one well-known struggle may have had a clue sitting just barely out of sight.}, }
@article {pmid29599274, year = {2018}, author = {Sadayappan, S}, title = {My Life, My Heart, and My(osin) Binding Protein-C.}, journal = {Circulation research}, volume = {122}, number = {7}, pages = {918-920}, pmid = {29599274}, issn = {1524-4571}, support = {K02 HL114749/HL/NHLBI NIH HHS/United States ; R01 HL105826/HL/NHLBI NIH HHS/United States ; R01 HL130356/HL/NHLBI NIH HHS/United States ; }, mesh = {Cardiology/*history ; Carrier Proteins/metabolism ; History, 20th Century ; History, 21st Century ; India ; Molecular Biology/*history ; Myocardium/metabolism ; United States ; }, }
@article {pmid29598980, year = {2018}, author = {Romero, R}, title = {A Profile of Dennis Lo, DM, DPhil, FRCP, FRCPath, FRS.}, journal = {American journal of obstetrics and gynecology}, volume = {218}, number = {4}, pages = {371-378}, pmid = {29598980}, issn = {1097-6868}, support = {Z99 HD999999//Intramural NIH HHS/United States ; }, mesh = {Cell-Free Nucleic Acids/blood ; Chromosome Aberrations ; DNA/blood ; Female ; Genetics/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Hong Kong ; Humans ; Neoplasms/*diagnosis ; Pregnancy/blood ; Prenatal Diagnosis/*history ; Sequence Analysis, DNA ; }, }
@article {pmid29596172, year = {2018}, author = {Goulet, O and Phillips, A}, title = {Chapter 5.2.2. From the Syndrome of Intractable Diarrhoea of Infancy to Molecular Analysis and Cell Biology: 50 Years of Evolution.}, journal = {Journal of pediatric gastroenterology and nutrition}, volume = {66 Suppl 1}, number = {}, pages = {S77-S81}, doi = {10.1097/MPG.0000000000001915}, pmid = {29596172}, issn = {1536-4801}, mesh = {Anniversaries and Special Events ; Cell Biology/*history ; Child Nutrition Sciences/*history/organization &amp; administration ; Diarrhea/*history ; Europe ; Gastroenterology/*history/organization &amp; administration ; History, 20th Century ; History, 21st Century ; Humans ; Infant ; Molecular Medicine/*history ; Pediatrics/*history/organization &amp; administration ; Societies, Medical/history ; Syndrome ; }, }
@article {pmid29575103, year = {2018}, author = {Hill, WG}, title = {Contributions to quantitative genetic models by Yule and by Weinberg prior to Fisher 1918.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {135}, number = {2}, pages = {93-94}, doi = {10.1111/jbg.12320}, pmid = {29575103}, issn = {1439-0388}, mesh = {Algorithms ; Animals ; Biological Evolution ; Genetic Speciation ; Genetics/*history ; History, 19th Century ; Humans ; *Models, Genetic ; Models, Statistical ; }, }
@article {pmid29574847, year = {2018}, author = {Weiss, KM}, title = {The tales genes tell (or not): A century of exploration.}, journal = {American journal of physical anthropology}, volume = {165}, number = {4}, pages = {741-753}, doi = {10.1002/ajpa.23333}, pmid = {29574847}, issn = {1096-8644}, mesh = {Animals ; Anthropology, Physical/*history ; *Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Biological ; Primates ; }, }
@article {pmid29574830, year = {2018}, author = {Szathmáry, EJE and Zegura, SL and Hammer, MF}, title = {Exceeding Hrdlička's aims: 100 Years of genetics in anthropology.}, journal = {American journal of physical anthropology}, volume = {165}, number = {4}, pages = {754-776}, doi = {10.1002/ajpa.23406}, pmid = {29574830}, issn = {1096-8644}, mesh = {Americas ; *Anthropology, Physical/history/organization &amp; administration ; Evolution, Molecular ; Gene Flow ; Genetic Markers ; Genetic Research/history ; Genetics, Population/*history ; Genomics ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid29540437, year = {2018}, author = {Ferguson-Smith, AC and Bartolomei, MS}, title = {Obituary: Denise Barlow (1950-2017).}, journal = {Development (Cambridge, England)}, volume = {145}, number = {5}, pages = {}, doi = {10.1242/dev.164616}, pmid = {29540437}, issn = {1477-9129}, mesh = {Animals ; Austria ; Developmental Biology/*history ; Epigenesis, Genetic ; Epigenomics/*history ; Genomic Imprinting/*physiology ; History, 20th Century ; History, 21st Century ; Humans ; *Laboratory Personnel/history ; United Kingdom ; }, abstract = {Anne Ferguson-Smith and Marisa Bartolomei look back at the life and science of Denise Barlow, a pioneer in genomic imprinting and epigenetics.}, }
@article {pmid29538439, year = {2018}, author = {Rusu, I and Modi, A and Vai, S and Pilli, E and Mircea, C and Radu, C and Urduzia, C and Pinter, ZK and Bodolică, V and Dobrinescu, C and Hervella, M and Popescu, O and Lari, M and Caramelli, D and Kelemen, B}, title = {Maternal DNA lineages at the gate of Europe in the 10th century AD.}, journal = {PloS one}, volume = {13}, number = {3}, pages = {e0193578}, pmid = {29538439}, issn = {1932-6203}, mesh = {Archaeology ; Bone and Bones/metabolism ; DNA, Mitochondrial/classification/genetics/isolation &amp; purification/*metabolism ; European Continental Ancestry Group/*genetics ; Genetics, Population/history ; Haplotypes ; High-Throughput Nucleotide Sequencing ; History, Medieval ; Humans ; Phylogeny ; Principal Component Analysis ; Romania ; Sequence Analysis, DNA ; }, abstract = {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.}, }
@article {pmid29535460, year = {2018}, author = {Charney, AW}, title = {Pamela Sklar.}, journal = {Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology}, volume = {43}, number = {5}, pages = {1191-1192}, doi = {10.1038/npp.2018.1}, pmid = {29535460}, issn = {1740-634X}, mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Psychiatry/*history ; United States ; }, }
@article {pmid29526494, year = {2018}, author = {Jones, ED}, title = {Ancient DNA: a history of the science before Jurassic Park.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {68-69}, number = {}, pages = {1-14}, doi = {10.1016/j.shpsc.2018.02.001}, pmid = {29526494}, issn = {1879-2499}, mesh = {Animals ; *DNA, Ancient ; Extinction, Biological ; *Fossils ; Genetics/*history ; History, 20th Century ; Invertebrates/genetics ; Plants/genetics ; Vertebrates/genetics ; }, }
@article {pmid29523692, year = {2018}, author = {von Heijne, G}, title = {Membrane protein serendipity.}, journal = {The Journal of biological chemistry}, volume = {293}, number = {10}, pages = {3470-3476}, pmid = {29523692}, issn = {1083-351X}, mesh = {Animals ; Chemical Engineering/*history ; Computational Biology/*history ; History, 20th Century ; History, 21st Century ; Humans ; Lipid Bilayers/chemistry/metabolism ; Membrane Proteins/chemistry/genetics/*history/metabolism ; *Models, Molecular ; Molecular Biology/*history ; New York City ; Physics/*history ; Protein Folding ; Protein Sorting Signals ; Signal Transduction ; Sweden ; }, abstract = {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 ….}, }
@article {pmid29512888, year = {2018}, author = {Stoll, K and Kubendran, S and Cohen, SA}, title = {The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {178}, number = {1}, pages = {24-37}, doi = {10.1002/ajmg.c.31602}, pmid = {29512888}, issn = {1552-4876}, mesh = {*Counselors ; Genetic Counseling/history/*methods/trends ; Genetics, Medical ; Health Workforce ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/genetics ; Precision Medicine ; Referral and Consultation ; }, abstract = {Precision medicine aims to approach disease treatment and prevention with consideration of the variability in genes, environment, and lifestyle for each person. This focus on the individual is also key to the practice of genetic counseling, whereby foundational professional values prioritize informed and autonomous patient decisions regarding their genetic health. Genetic counselors are ideally suited to help realize the goals of the precision medicine. However, a limited genetic counseling workforce at a time in which there is a rapidly growing need for services is challenging the balance of supply and demand. This article provides historical context to better understand what has informed traditional models of genetic counseling and considers some of the current forces that require genetic counselors to adapt their practice. New service delivery models can improve access to genetic healthcare by overcoming geographical barriers, allowing genetic counselors to see a higher volume of patients and supporting other healthcare providers to better provide genetic services to meet the needs of their patients. Approaches to genetic counseling service delivery are considered with a forward focus to the challenges and opportunities that lie ahead for genetic counselors in this age of precision health.}, }
@article {pmid29499160, year = {2018}, author = {Brunner, HG}, title = {2017 Curt Stern Award Introduction: Nico Katsanis.}, journal = {American journal of human genetics}, volume = {102}, number = {3}, pages = {354}, doi = {10.1016/j.ajhg.2018.01.013}, pmid = {29499160}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid29499157, year = {2018}, author = {Cox, NJ}, title = {2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.}, journal = {American journal of human genetics}, volume = {102}, number = {3}, pages = {342-349}, pmid = {29499157}, issn = {1537-6605}, mesh = {*Biographies as Topic ; *Cultural Diversity ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; *Women ; }, }
@article {pmid29489010, year = {2018}, author = {Papatriantafyllou, M}, title = {Centre for Genomic Regulation - a hub for Integrative Biology in Barcelona.}, journal = {FEBS letters}, volume = {592}, number = {6}, pages = {833-837}, doi = {10.1002/1873-3468.13020}, pmid = {29489010}, issn = {1873-3468}, mesh = {Genomics/history/*methods/*organization &amp; administration ; History, 21st Century ; Humans ; Portraits as Topic ; Spain ; }, }
@article {pmid29487143, year = {2018}, author = {Salzano, FM}, title = {The Evolution of Science in a Latin-American Country: Genetics and Genomics in Brazil.}, journal = {Genetics}, volume = {208}, number = {3}, pages = {823-832}, pmid = {29487143}, issn = {1943-2631}, mesh = {Brazil ; *Genetics/history ; *Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; *Science/history ; }, abstract = {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.}, }
@article {pmid29483247, year = {2018}, author = {Palkopoulou, E and Lipson, M and Mallick, S and Nielsen, S and Rohland, N and Baleka, S and Karpinski, E and Ivancevic, AM and To, TH and Kortschak, RD and Raison, JM and Qu, Z and Chin, TJ and Alt, KW and Claesson, S and Dalén, L and MacPhee, RDE and Meller, H and Roca, AL and Ryder, OA and Heiman, D and Young, S and Breen, M and Williams, C and Aken, BL and Ruffier, M and Karlsson, E and Johnson, J and Di Palma, F and Alfoldi, J and Adelson, DL and Mailund, T and Munch, K and Lindblad-Toh, K and Hofreiter, M and Poinar, H and Reich, D}, title = {A comprehensive genomic history of extinct and living elephants.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {115}, number = {11}, pages = {E2566-E2574}, pmid = {29483247}, issn = {1091-6490}, support = {//Wellcome Trust/United Kingdom ; R01 GM100233/GM/NIGMS NIH HHS/United States ; U54 HG003067/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; WT098051//Wellcome Trust/United Kingdom ; WT108749/Z/15/Z//Wellcome Trust/United Kingdom ; }, mesh = {Animals ; Elephants/classification/*genetics ; Evolution, Molecular ; Extinction, Biological ; Fossils ; Gene Flow ; Genome ; Genomics/history ; History, Ancient ; Mammoths/classification/*genetics ; Mastodons/classification/*genetics ; Phylogeny ; }, abstract = {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.}, }
@article {pmid29482283, year = {2018}, author = {Viggiano, D and Zacchia, M and Simonelli, F and Di Iorio, V and Anastasio, P and Capasso, G and De Santo, NG}, title = {The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes.}, journal = {Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia}, volume = {35}, number = {Suppl 70}, pages = {95-100}, pmid = {29482283}, issn = {1724-5990}, mesh = {Bardet-Biedl Syndrome/complications/genetics/*history ; Genetics, Medical/*history ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Kidney Diseases/etiology/*history ; }, }
@article {pmid29457551, year = {2018}, author = {Pederson, T}, title = {Alternative Genetics.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {32}, number = {2}, pages = {537-539}, doi = {10.1096/fj.180201ufm}, pmid = {29457551}, issn = {1530-6860}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29445977, year = {2018}, author = {Silva, L}, title = {A Brief History of Biochemical Genetics' 50 Years and a Reflection About Past and Present Research Directions.}, journal = {Biochemical genetics}, volume = {56}, number = {1-2}, pages = {1-6}, doi = {10.1007/s10528-018-9846-9}, pmid = {29445977}, issn = {1573-4927}, mesh = {Biochemistry/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Portraits as Topic ; }, }
@article {pmid29410482, year = {2018}, author = {Stolarek, I and Juras, A and Handschuh, L and Marcinkowska-Swojak, M and Philips, A and Zenczak, M and Dębski, A and Kóčka-Krenz, H and Piontek, J and Kozlowski, P and Figlerowicz, M}, title = {A mosaic genetic structure of the human population living in the South Baltic region during the Iron Age.}, journal = {Scientific reports}, volume = {8}, number = {1}, pages = {2455}, pmid = {29410482}, issn = {2045-2322}, mesh = {Adult ; Cemeteries/history ; DNA, Mitochondrial/classification/*genetics ; Europe ; Female ; *Genetic Variation ; Genetics, Population/*history ; Haplotypes ; History, Ancient ; Humans ; Male ; *Pedigree ; }, abstract = {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.}, }
@article {pmid29410353, year = {2018}, author = {Rose, JP and Kleist, TJ and Löfstrand, SD and Drew, BT and Schönenberger, J and Sytsma, KJ}, title = {Phylogeny, historical biogeography, and diversification of angiosperm order Ericales suggest ancient Neotropical and East Asian connections.}, journal = {Molecular phylogenetics and evolution}, volume = {122}, number = {}, pages = {59-79}, doi = {10.1016/j.ympev.2018.01.014}, pmid = {29410353}, issn = {1095-9513}, mesh = {Animals ; *Biodiversity ; Chloroplasts/genetics ; Far East ; Fossils/history ; Genetic Speciation ; History, Ancient ; Magnoliopsida/*classification/genetics ; Mitochondria/genetics ; *Phylogeny ; Phylogeography/history ; Ribosomes/genetics ; }, abstract = {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.}, }
@article {pmid29389452, year = {2018}, author = {Biesecker, BB and Biesecker, LG}, title = {50 Years Ago in The Journal of Pediatrics: The Rationale for Genetic Counseling.}, journal = {The Journal of pediatrics}, volume = {193}, number = {}, pages = {33}, doi = {10.1016/j.jpeds.2017.12.037}, pmid = {29389452}, issn = {1097-6833}, mesh = {Child ; Genetic Counseling/*history ; Genetic Testing/*history ; History, 20th Century ; Humans ; Pediatrics/*history ; }, }
@article {pmid29382488, year = {2017}, author = {Encarnación-Guevara, S}, title = {The dawn and the first twenty-five years of proteomics in Mexico: a personal chronicle.}, journal = {Boletin medico del Hospital Infantil de Mexico}, volume = {74}, number = {3}, pages = {208-211}, doi = {10.1016/j.bmhimx.2017.03.006}, pmid = {29382488}, issn = {1665-1146}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Laboratories/*history ; Mexico ; Proteomics/*history ; Research/*history ; }, abstract = {This review does not aim to be an up-to-date of proteomics in Mexico; it simply tries to trace its development, exposing the story of the researchers, laboratories and some institutions that have contributed to the establishment and development of this science in Mexico.}, }
@article {pmid29375137, year = {2018}, author = {Ajito, K}, title = {Professor KC Nicolaou expanded the world of synthetic organic chemistry by total synthesis and his laboratories have fostered many talented researchers.}, journal = {The Journal of antibiotics}, volume = {71}, number = {2}, pages = {151-152}, pmid = {29375137}, issn = {1881-1469}, mesh = {Antineoplastic Agents/chemical synthesis/pharmacology ; Chemistry, Pharmaceutical/*education/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*education/*history ; *Research Personnel ; }, }
@article {pmid29375134, year = {2018}, author = {Winssinger, N}, title = {Biography of Professor Nicolaou: a journey to the extremes of molecular complexity.}, journal = {The Journal of antibiotics}, volume = {71}, number = {2}, pages = {149-150}, doi = {10.1038/ja.2017.144}, pmid = {29375134}, issn = {1881-1469}, mesh = {Antineoplastic Agents/chemical synthesis/pharmacology ; Chemistry, Pharmaceutical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid29363900, year = {2017}, author = {Pluta, D and Tokarski, M and Karpiewska, A and Dobosz, T}, title = {15th Anniversary of the Molecular Techniques Unit at the Department of Forensic Medicine at Wroclaw Medical University.}, journal = {Archiwum medycyny sadowej i kryminologii}, volume = {67}, number = {2}, pages = {142-149}, doi = {10.5114/amsik.2017.71455}, pmid = {29363900}, issn = {0324-8267}, mesh = {*Anniversaries and Special Events ; Forensic Medicine/*history ; History, 21st Century ; Humans ; Molecular Biology/*history ; Pathology, Clinical/history ; Poland ; Societies, Scientific/history ; Universities/*history ; }, abstract = {Molecular Techniques Unit at the Department of Forensic Medicine, Wroclaw Medical University has been operating since December 2003. Soon it will be 15 years since its establishment. This anniversary become an inspiration to write down the story of this institution whose origins illustrate the immense changes that have taken place in forensic genetics. The aim of our work was also to consolidate the professional achievements of Professor Tadeusz Dobosz, chief of the Unit, one of the pioneers of introducing DNA testing technology into Polish forensic medicine. The most important achievements of the Unit include participation in two EU research projects, the development of a non-destructive method of extraction of genetic material, research in field of gene therapy and certification of the Laboratory of the Molecular Techniques Unit by the Polish Accreditation Center (PCA) confirming compliance with the requirements of the PN-EN ISO/IEC 17025:2005 standard.}, }
@article {pmid29358548, year = {2017}, author = {Singh, J}, title = {Amar Klar: A giant among scientists (1947-2017).}, journal = {Journal of biosciences}, volume = {42}, number = {3}, pages = {355-357}, pmid = {29358548}, issn = {0973-7138}, mesh = {Biochemistry ; DNA/physiology ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid29345074, year = {2018}, author = {James, JW}, title = {A century later.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {135}, number = {1}, pages = {1-2}, doi = {10.1111/jbg.12309}, pmid = {29345074}, issn = {1439-0388}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Statistical ; *Selection, Genetic ; }, }
@article {pmid29339467, year = {2018}, author = {Ravindran, S}, title = {Profile of Scott W. Lowe.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {115}, number = {4}, pages = {630-632}, pmid = {29339467}, issn = {1091-6490}, mesh = {Genes, Neoplasm ; Genes, p53 ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/*history/methods ; Oncogenes ; }, }
@article {pmid29324038, year = {2018}, author = {Willis, JH}, title = {The Evolution and Metamorphosis of Arthropod Proteomics and Genomics.}, journal = {Annual review of entomology}, volume = {63}, number = {}, pages = {1-13}, doi = {10.1146/annurev-ento-020117-043447}, pmid = {29324038}, issn = {1545-4487}, support = {S10 OD018164/OD/NIH HHS/United States ; R01 AI055624/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; Entomology/*history ; History, 20th Century ; History, 21st Century ; Insect Proteins/*analysis/genetics/metabolism ; Insecta/genetics/*metabolism ; *Metamorphosis, Biological ; Proteomics/*history ; }, abstract = {This article presents an overview of the development of techniques for analyzing cuticular proteins (CPs), their transcripts, and their genes over the past 50 years based primarily on experience in the laboratory of J.H. Willis. It emphasizes changes in the kind of data that can be gathered and how such data provided insights into the molecular underpinnings of insect metamorphosis and cuticle structure. It describes the techniques that allowed visualization of the location of CPs at both the anatomical and intracuticular levels and measurement of the appearance and deployment of transcripts from CP genes as well as what was learned from genomic and transcriptomic data. Most of the early work was done with the cecropia silkmoth, Hyalophora cecropia, and later work was with Anopheles gambiae.}, }
@article {pmid29310539, year = {2017}, author = {Creager, ANH}, title = {A Chemical Reaction to the Historiography of Biology.}, journal = {Ambix}, volume = {64}, number = {4}, pages = {343-359}, doi = {10.1080/00026980.2017.1412136}, pmid = {29310539}, issn = {1745-8234}, mesh = {Biological Evolution ; Biology/*history ; Chemistry/*methods ; Genetics/history ; Historiography ; History, 20th Century ; History, 21st Century ; }, abstract = {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.}, }
@article {pmid29299965, year = {2017}, author = {Taskent, RO and Gokcumen, O}, title = {The Multiple Histories of Western Asia: Perspectives from Ancient and Modern Genomes.}, journal = {Human biology}, volume = {89}, number = {2}, pages = {107-117}, doi = {10.13110/humanbiology.89.2.01}, pmid = {29299965}, issn = {1534-6617}, mesh = {Africa/ethnology ; Anthropology/history ; Archaeology/history ; Asia/ethnology ; Asia, Western/ethnology ; Continental Population Groups/*genetics ; Europe/ethnology ; Genetic Variation/*genetics ; Genomics/*history/trends ; History, 20th Century ; History, 21st Century ; History, Ancient ; Human Migration/history ; Humans ; Sedentary Behavior/ethnology ; }, abstract = {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.}, }
@article {pmid29299963, year = {2017}, author = {Vukelic, A and Cohen, JA and Sullivan, AP and Perry, GH}, title = {Extending Genome-Wide Association Study Results to Test Classic Anthropological Hypotheses: Human Third Molar Agenesis and the "Probable Mutation Effect".}, journal = {Human biology}, volume = {89}, number = {2}, pages = {157-169}, doi = {10.13110/humanbiology.89.2.03}, pmid = {29299963}, issn = {1534-6617}, mesh = {Adult ; Animals ; Anodontia/*epidemiology/history ; Anthropology/history ; Biological Evolution ; Brain/anatomy &amp; histology ; Facial Bones/anatomy &amp; histology ; Genetics, Population/history ; Genome-Wide Association Study/*methods ; Genomics/methods ; History, Ancient ; Hominidae/genetics ; Humans ; Japan/epidemiology ; Molar, Third/*abnormalities ; Mutation ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Probability ; Republic of Korea/epidemiology ; Tooth, Impacted/*genetics ; }, abstract = {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.}, }
@article {pmid29297886, year = {2017}, author = {Harper, PS}, title = {Activities and initiatives of the renewed European Society of Human Genetics (ESHG) (1992-2017).}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S2-S5}, pmid = {29297886}, issn = {1476-5438}, mesh = {Awards and Prizes ; Cloning, Organism/*ethics ; Europe ; History, 20th Century ; History, 21st Century ; Human Experimentation/*ethics ; Human Genetics/*history/trends ; Humans ; Patents as Topic ; Practice Guidelines as Topic ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297885, year = {2017}, author = {Cassiman, JJ}, title = {EuroGentest NoE, the ESHG, and genetic services.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S47-S49}, doi = {10.1038/ejhg.2017.155}, pmid = {29297885}, issn = {1476-5438}, mesh = {Committee Membership ; Databases, Genetic ; Europe ; Genetic Counseling/*organization &amp; administration ; Genetic Testing/*methods ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297884, year = {2017}, author = {Donnai, D}, title = {Dysmorphology and the ESHG.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S33-S34}, doi = {10.1038/ejhg.2017.161}, pmid = {29297884}, issn = {1476-5438}, mesh = {Congenital Abnormalities/*diagnosis/genetics/history/pathology ; Consensus Development Conferences as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Image Interpretation, Computer-Assisted/*methods ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297883, year = {2017}, author = {Brunner, H}, title = {The annual meeting 1988-2017.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S35-S36}, doi = {10.1038/ejhg.2017.150}, pmid = {29297883}, issn = {1476-5438}, mesh = {*Congresses as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Organizational Policy ; *Posters as Topic ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297882, year = {2017}, author = {Pignatti, PF and Ramos, FJ}, title = {Involving the European National Human Genetics Societies.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S39-S42}, doi = {10.1038/ejhg.2017.152}, pmid = {29297882}, issn = {1476-5438}, mesh = {Committee Membership ; *Congresses as Topic ; Europe ; History, 21st Century ; Human Genetics/*history ; Humans ; Societies, Scientific/*history/statistics &amp; numerical data ; Workforce ; }, }
@article {pmid29297881, year = {2017}, author = {Pembrey, M}, title = {The creation of the International Federation of Human Genetics Societies in 1995-1996.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S43-S44}, doi = {10.1038/ejhg.2017.153}, pmid = {29297881}, issn = {1476-5438}, mesh = {Committee Membership ; History, 20th Century ; Human Genetics/*history ; Humans ; *Practice Guidelines as Topic ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; World Health Organization ; }, }
@article {pmid29297880, year = {2017}, author = {Cassiman, JJ}, title = {The growth of the IFHGS after 2000.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S45-S46}, doi = {10.1038/ejhg.2017.154}, pmid = {29297880}, issn = {1476-5438}, mesh = {Committee Membership ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; International Cooperation ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297879, year = {2017}, author = {Aymé, S and Cornel, MC}, title = {The development of the public and professional policy committee.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S29-S32}, doi = {10.1038/ejhg.2017.160}, pmid = {29297879}, issn = {1476-5438}, mesh = {Databases, Nucleic Acid/history/organization &amp; administration ; Europe ; High-Throughput Nucleotide Sequencing/history/instrumentation/methods ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Human Genome Project/history ; Humans ; *Organizational Policy ; *Practice Guidelines as Topic ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297878, year = {2017}, author = {van Ommen, G}, title = {The development and growth of EJHG 1995-2017.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S23-S26}, pmid = {29297878}, issn = {1476-5438}, mesh = {Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; *Organizational Policy ; Professional Staff Committees/history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297877, year = {2017}, author = {Read, AP}, title = {Read's Recall: Shuffling abstracts - and foundations.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S27-S28}, doi = {10.1038/ejhg.2017.149}, pmid = {29297877}, issn = {1476-5438}, mesh = {Abstracting and Indexing ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; *Organizational Policy ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297876, year = {2017}, author = {Skirton, H}, title = {The European Board of Medical Genetics: development of a professional registration system in Europe.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S51-S52}, pmid = {29297876}, issn = {1476-5438}, mesh = {Committee Membership ; Europe ; Genetic Counseling/*organization &amp; administration ; Genetic Testing/methods ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Specialty Boards/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297875, year = {2017}, author = {Kristoffersson, U and Macek, M}, title = {From Mendel to Medical Genetics.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S53-S59}, pmid = {29297875}, issn = {1476-5438}, mesh = {Committee Membership ; Europe ; Genetic Counseling/*organization &amp; administration ; Genetic Testing/methods ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Specialty Boards/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297874, year = {2017}, author = {Houge, G and Del Picchia, J}, title = {The inner life and structure of ESHG.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S16-S19}, doi = {10.1038/ejhg.2017.144}, pmid = {29297874}, issn = {1476-5438}, mesh = {Congresses as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297873, year = {2017}, author = {van Ommen, G and Rice, M}, title = {The ESHG's second quarter century: consolidation and growth-the period covering 1992-2017.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S1}, doi = {10.1038/ejhg.2017.140}, pmid = {29297873}, issn = {1476-5438}, mesh = {Europe ; History, 20th Century ; History, 21st Century ; Human Genetics/*history/trends ; Humans ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297872, year = {2017}, author = {Pembrey, M}, title = {Those wonderful school days in Sestri Levante!.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S13-S15}, doi = {10.1038/ejhg.2017.143}, pmid = {29297872}, issn = {1476-5438}, mesh = {Congresses as Topic ; Europe ; Genetics, Medical/*history ; History, 20th Century ; Humans ; Societies, Scientific/*history ; Workforce ; }, }
@article {pmid29297871, year = {2017}, author = {Kääriäinen, H and Houge, G}, title = {Secretary Generals on recent ESHG presidents (2003-2015).}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S20-S22}, doi = {10.1038/ejhg.2017.145}, pmid = {29297871}, issn = {1476-5438}, mesh = {Europe ; History, 21st Century ; Human Genetics/*history ; Humans ; *Personnel Management ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297870, year = {2017}, author = {Romeo, G and Passarge, E and de la Chapelle, A}, title = {The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S6-S12}, doi = {10.1038/ejhg.2017.142}, pmid = {29297870}, issn = {1476-5438}, mesh = {Europe ; Genetics, Medical/*history/trends ; History, 20th Century ; Humans ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297869, year = {2017}, author = {Burn, J}, title = {Recognition of clinical genetics in Europe.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S50}, doi = {10.1038/ejhg.2017.156}, pmid = {29297869}, issn = {1476-5438}, mesh = {Committee Membership ; Europe ; Genetic Counseling/*organization &amp; administration ; Genetic Testing/*methods ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29297868, year = {2017}, author = {Wirth, B}, title = {Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016.}, journal = {European journal of human genetics : EJHG}, volume = {25}, number = {s2}, pages = {S37-S38}, doi = {10.1038/ejhg.2017.151}, pmid = {29297868}, issn = {1476-5438}, mesh = {Committee Membership ; *Congresses as Topic ; Europe ; History, 21st Century ; Human Genetics/*history ; Humans ; Professional Staff Committees/*history/organization &amp; administration ; Societies, Scientific/*history/organization &amp; administration ; Workforce ; }, }
@article {pmid29293741, year = {2017}, author = {Collier, RJ and Bauman, DE}, title = {TRIENNIAL LACTATION SYMPOSIUM/BOLFA:Historical perspectives of lactation biology in the late 20th and early 21st centuries.}, journal = {Journal of animal science}, volume = {95}, number = {12}, pages = {5639-5652}, pmid = {29293741}, issn = {1525-3163}, mesh = {Animals ; Cattle/genetics/*physiology ; Female ; Genomics/*history ; History, 20th Century ; History, 21st Century ; *Lactation ; Mammary Glands, Animal/physiology ; Metabolomics/*history ; Milk/*chemistry/metabolism ; Systems Biology/*history ; }, abstract = {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.}, }
@article {pmid29288271, year = {2017}, author = {Jager, MJ}, title = {Introducing Johanna M. Seddon, the 2017 Recipient of the Mildred Weisenfeld Award.}, journal = {Investigative ophthalmology &amp; visual science}, volume = {58}, number = {14}, pages = {6510-6512}, doi = {10.1167/iovs.17-23542}, pmid = {29288271}, issn = {1552-5783}, mesh = {*Awards and Prizes ; History, 20th Century ; History, 21st Century ; Molecular Epidemiology/*history ; Netherlands ; Ophthalmology/*history ; Societies, Scientific/*history ; Wet Macular Degeneration/*history ; }, }
@article {pmid29283633, year = {2017}, author = {}, title = {Award for Distinguished Scientific Early Career Contributions to Psychology: Kathryn Paige Harden.}, journal = {The American psychologist}, volume = {72}, number = {9}, pages = {898-900}, doi = {10.1037/amp0000271}, pmid = {29283633}, issn = {1935-990X}, mesh = {*Awards and Prizes ; Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Human Development ; Humans ; Psychology/*history ; United States ; }, abstract = {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}, }
@article {pmid29283628, year = {2017}, author = {}, title = {Distinguished Scientific Contributions: Robert Plomin.}, journal = {The American psychologist}, volume = {72}, number = {9}, pages = {885-887}, doi = {10.1037/amp0000268}, pmid = {29283628}, issn = {1935-990X}, mesh = {*Awards and Prizes ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; Psychology/*history ; United States ; }, abstract = {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}, }
@article {pmid29277272, year = {2018}, author = {Carter, AM}, title = {Classics revisited: Miguel Fernández on germ layer inversion and specific polyembryony in armadillos.}, journal = {Placenta}, volume = {61}, number = {}, pages = {55-60}, doi = {10.1016/j.placenta.2017.11.006}, pmid = {29277272}, issn = {1532-3102}, mesh = {Anatomy, Comparative/*history ; Animals ; Argentina ; Armadillos/*embryology/growth &amp; development/physiology ; Embryology/*history ; *Embryonic Development ; Extraembryonic Membranes/cytology/embryology/physiology ; Female ; Genetic Research/history ; Germ Layers/cytology/*embryology/physiology ; History, 20th Century ; Male ; Placentation ; Pregnancy ; Species Specificity ; *Twinning, Monozygotic ; Yolk Sac/cytology/embryology/physiology ; Zoology/*history ; }, abstract = {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.<br><br>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).<br><br>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.}, }
@article {pmid29251435, year = {2017}, author = {Chenette, EJ}, title = {Announcing the winners of our 50th Anniversary Science Communication Competition.}, journal = {The FEBS journal}, volume = {284}, number = {24}, pages = {4172-4173}, doi = {10.1111/febs.14329}, pmid = {29251435}, issn = {1742-4658}, mesh = {Audiovisual Aids ; *Awards and Prizes ; Biological Science Disciplines/*history ; Europe ; History, 21st Century ; Mexico ; Molecular Biology/history ; Motion Pictures ; Neurosciences/history ; Posters as Topic ; Singapore ; *Societies, Scientific ; }, abstract = {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!}, }
@article {pmid29246333, year = {2018}, author = {Lebel, RR}, title = {50 Years Ago in The Journal of Pediatrics: A Familial Syndrome of Renal, Genital, and Middle Ear Anomalies.}, journal = {The Journal of pediatrics}, volume = {192}, number = {}, pages = {129}, doi = {10.1016/j.jpeds.2017.07.042}, pmid = {29246333}, issn = {1097-6833}, mesh = {Child ; Ear, Middle/*abnormalities ; Family Health ; Female ; Genes, Recessive ; Genetic Predisposition to Disease ; Genetics/*history ; History, 20th Century ; Humans ; Kidney/*abnormalities ; Male ; Pediatrics/*history ; Syndrome ; Urogenital Abnormalities/*history ; Vagina/*abnormalities ; }, }
@article {pmid29244564, year = {2018}, author = {}, title = {2017 American Society of Naturalists Awards.}, journal = {The American naturalist}, volume = {191}, number = {1}, pages = {vi-viii}, doi = {10.1086/694904}, pmid = {29244564}, issn = {1537-5323}, mesh = {*Awards and Prizes ; Ecology/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, }
@article {pmid29239359, year = {2017}, author = {Cornish, VW}, title = {Ronald Breslow (1931-2017).}, journal = {Nature}, volume = {552}, number = {7684}, pages = {176}, doi = {10.1038/d41586-017-08461-5}, pmid = {29239359}, issn = {1476-4687}, mesh = {Antineoplastic Agents/history ; Biochemistry/*history ; Chemistry, Organic/*history ; Coenzymes/chemistry/metabolism ; Cyclodextrins/metabolism ; History, 20th Century ; Hydroxamic Acids/history ; Mentoring ; Molecular Biology/history ; New Jersey ; New York City ; Thiamine/analogs &amp; derivatives/chemistry/pharmacology ; Thiamine Pyrophosphate/chemistry/pharmacology ; Vorinostat ; Women's Rights/history ; }, }
@article {pmid29237895, year = {2017}, author = {Rao, V}, title = {J. B. S. Haldane and Journal of Genetics.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {855-864}, doi = {10.1007/s12041-017-0841-4}, pmid = {29237895}, issn = {0973-7731}, mesh = {*Genetic Research ; Genetics/*history ; History, 20th Century ; Humans ; *Periodicals as Topic ; *Publishing ; }, abstract = {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.}, }
@article {pmid29237894, year = {2017}, author = {Mcouat, G}, title = {J. B. S. Haldane's passage to India: reconfiguring science.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {845-852}, pmid = {29237894}, issn = {0973-7731}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; India ; Science/*history ; }, abstract = {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).}, }
@article {pmid29237893, year = {2017}, author = {Dejong-Lambert, W}, title = {J. B. S. Haldane and Лысенковщина (Lysenkovschina).}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {837-844}, pmid = {29237893}, issn = {0973-7731}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; USSR ; }, }
@article {pmid29237892, year = {2017}, author = {Damodaran, V}, title = {Janaki Ammal, C. D. Darlington and J. B. S. Haldane: scientific encounters at the end of empire.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {827-836}, pmid = {29237892}, issn = {0973-7731}, mesh = {*Biological Evolution ; *Genetic Research ; Genetics, Population/*history ; History, 20th Century ; Humans ; *Models, Genetic ; }, abstract = {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.}, }
@article {pmid29237891, year = {2017}, author = {Wilmot, S}, title = {J. B. S. Haldane: the John Innes years.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {815-826}, pmid = {29237891}, issn = {0973-7731}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237890, year = {2017}, author = {Guha, R}, title = {Becoming an Indian.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {805-814}, doi = {10.1007/s12041-017-0835-2}, pmid = {29237890}, issn = {0973-7731}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; India ; }, }
@article {pmid29237889, year = {2017}, author = {Bateson, P}, title = {The cleverest man I never met.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {801-804}, pmid = {29237889}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237886, year = {2017}, author = {Charlesworth, B}, title = {Haldane and modern evolutionary genetics.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {773-782}, pmid = {29237886}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; *Genetics, Population ; History, 20th Century ; Humans ; }, }
@article {pmid29237885, year = {2017}, author = {Rao, V}, title = {Haldane's view of natural selection.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {765-772}, pmid = {29237885}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Humans ; Models, Genetic ; *Selection, Genetic ; United States ; }, abstract = {Among many things, J. B. S. Haldane is known for demonstrating how the principle of natural selection can be used to build a mathematical, and in particular quantitative, theory of evolution. However, to the end, he remained open to the idea of other evolutionary mechanisms. In his late writings, he repeatedly drew attention to situations in which natural selection did not operate, was hemmed in by constraints, or worked in a surprising manner. In this respect Haldane stands out among the architects of the Modern Synthesis.}, }
@article {pmid29237883, year = {2017}, author = {Edwards A W, F}, title = {Haldane and Fisher - scientific interactions.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {747-752}, doi = {10.1007/s12041-017-0827-2}, pmid = {29237883}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237882, year = {2017}, author = {Bodmer, WF}, title = {A Haldane perspective from a Fisher student.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {743-746}, pmid = {29237882}, issn = {0973-7731}, mesh = {Blood Group Antigens/*genetics ; Genetics, Population/*history ; History, 20th Century ; Human Genetics/*history ; Humans ; Selection, Genetic/*genetics ; }, }
@article {pmid29237881, year = {2017}, author = {Crow, JF}, title = {Haldane, Fisher and Wright.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {741-742}, doi = {10.1007/s12041-017-0846-z}, pmid = {29237881}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237879, year = {2017}, author = {Divakaran, PP}, title = {J. B. S. Haldane: an isolated souvenir.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {733}, doi = {10.1007/s12041-017-0839-y}, pmid = {29237879}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237878, year = {2017}, author = {Swaminathan, MS}, title = {J. B. S. Haldane: an uncommon scientist.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {731-732}, doi = {10.1007/s12041-017-0834-3}, pmid = {29237878}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237877, year = {2017}, author = {Mitchison, NA}, title = {J. B. S. Haldane, as I knew him.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {729}, doi = {10.1007/s12041-017-0828-1}, pmid = {29237877}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid29237876, year = {2017}, author = {Mitchison, N}, title = {In the dark hours.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {725-728}, doi = {10.1007/s12041-017-0847-y}, pmid = {29237876}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; }, }
@article {pmid29237875, year = {2017}, author = {Haldane J B, S}, title = {An autobiography in brief.}, journal = {Journal of genetics}, volume = {96}, number = {5}, pages = {719-723}, doi = {10.1007/s12041-017-0848-x}, pmid = {29237875}, issn = {0973-7731}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; Selection, Genetic/*genetics ; }, }
@article {pmid29233487, year = {2018}, author = {Metcalfe, SA}, title = {Genetic counselling, patient education, and informed decision-making in the genomic era.}, journal = {Seminars in fetal &amp; neonatal medicine}, volume = {23}, number = {2}, pages = {142-149}, doi = {10.1016/j.siny.2017.11.010}, pmid = {29233487}, issn = {1878-0946}, mesh = {Biomedical Research/methods/trends ; *Decision Making ; Family Characteristics ; Female ; Genetic Counseling/*history/psychology/trends ; Genetic Diseases, Inborn/*diagnosis/embryology/genetics/history ; Genetic Testing/*methods/trends ; Genomics/education/*history/methods/trends ; Health Knowledge, Attitudes, Practice ; History, 20th Century ; History, 21st Century ; Humans ; Male ; *Patient Education as Topic/trends ; Pregnancy ; Prenatal Diagnosis/*methods/psychology/trends ; Psychosocial Support Systems ; Stress, Psychological/etiology/prevention &amp; control/psychology ; }, abstract = {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.}, }
@article {pmid29226715, year = {2017}, author = {Raskó, I and Horváth, E}, title = {[Professor George Szemere (1931-2016) founder of the first regional genetic counselling service in Hungary].}, journal = {Orvosi hetilap}, volume = {158}, number = {50}, pages = {2003-2006}, doi = {10.1556/650.2017.HO2586}, pmid = {29226715}, issn = {0030-6002}, mesh = {Genetic Counseling/*history ; Genetic Testing/history ; History, 20th Century ; History, 21st Century ; Humans ; Hungary ; Male ; }, }
@article {pmid29218550, year = {2017}, author = {Weiss, TM}, title = {Small Angle Scattering: Historical Perspective and Future Outlook.}, journal = {Advances in experimental medicine and biology}, volume = {1009}, number = {}, pages = {1-10}, doi = {10.1007/978-981-10-6038-0_1}, pmid = {29218550}, issn = {0065-2598}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history/instrumentation/methods/trends ; Neutron Diffraction/*history/instrumentation/methods ; *Scattering, Small Angle ; Synchrotrons/history/instrumentation ; X-Ray Diffraction/*history/instrumentation/methods ; }, abstract = {Small angle scattering (SAS) is a powerful and versatile tool to elucidate the structure of matter at the nanometer scale. Recently, the technique has seen a tremendous growth of applications in the field of structural molecular biology. Its origins however date back to almost a century ago and even though the methods potential for studying biological macromolecules was realized already early on, it was only during the last two decades that SAS gradually became a major experimental technique for the structural biologist. This rise in popularity and application was driven by the concurrence of different key factors such as the increased accessibility to high quality SAS instruments enabled by the growing number of synchrotron facilities and neutron sources established around the world, the emerging need of the structural biology community to study large multi-domain complexes and flexible systems that are hard to crystalize, and in particular the development and availability of data analysis software together with the overall access to computational resources powerful enough to run them. Today, SAS is an established and widely used tool for structural studies on bio-macromolecules. Given the potential offered by the next generation X-ray and neutron sources as well as the development of new, innovative approaches to collect and analyze solution scattering data, the application of SAS in the field of structural molecular biology will certainly continue to thrive in the years to come.}, }
@article {pmid29213124, year = {2018}, author = {Cope, AP and Barnes, MR and Belson, A and Binks, M and Brockbank, S and Bonachela-Capdevila, F and Carini, C and Fisher, BA and Goodyear, CS and Emery, P and Ehrenstein, MR and Gozzard, N and Harris, R and Hollis, S and Keidel, S and Levesque, M and Lindholm, C and McDermott, MF and McInnes, IB and Mela, CM and Parker, G and Read, S and Pedersen, AW and Ponchel, F and Porter, D and Rao, R and Rowe, A and Schulz-Knappe, P and Sleeman, MA and Symmons, D and Taylor, PC and Tom, B and Tsuji, W and Verbeeck, D and Isaacs, JD and , }, title = {The RA-MAP Consortium: a working model for academia-industry collaboration.}, journal = {Nature reviews. Rheumatology}, volume = {14}, number = {1}, pages = {53-60}, pmid = {29213124}, issn = {1759-4804}, support = {18475/VAC_/Versus Arthritis/United Kingdom ; G1001516/MRC_/Medical Research Council/United Kingdom ; MR/N005813/1/MRC_/Medical Research Council/United Kingdom ; MC_UP_1302/3/MRC_/Medical Research Council/United Kingdom ; G1001518/MRC_/Medical Research Council/United Kingdom ; MC_UU_00002/2/MRC_/Medical Research Council/United Kingdom ; RC-PG-0407-10054/DH_/Department of Health/United Kingdom ; 18475/ARC_/Arthritis Research UK/United Kingdom ; 20639/VAC_/Versus Arthritis/United Kingdom ; }, mesh = {Arthritis, Rheumatoid/*genetics/therapy ; Biomarkers ; Biomedical Research/*organization &amp; administration ; *Cooperative Behavior ; Genomics/history/*methods ; History, 21st Century ; Humans ; Industry/*organization &amp; administration ; Phenotype ; Research/*organization &amp; administration ; United Kingdom/epidemiology ; }, abstract = {Collaboration can be challenging; nevertheless, the emerging successes of large, multi-partner, multi-national cooperatives and research networks in the biomedical sector have sustained the appetite of academics and industry partners for developing and fostering new research consortia. This model has percolated down to national funding agencies across the globe, leading to funding for projects that aim to realise the true potential of genomic medicine in the 21st century and to reap the rewards of 'big data'. In this Perspectives article, the experiences of the RA-MAP consortium, a group of more than 140 individuals affiliated with 21 academic and industry organizations that are focused on making genomic medicine in rheumatoid arthritis a reality are described. The challenges of multi-partner collaboration in the UK are highlighted and wide-ranging solutions are offered that might benefit large research consortia around the world.}, }
@article {pmid29203699, year = {2017}, author = {Hoskins, SG}, title = {Inside the Literature: An Interview with Sally G. Hoskins, 2017 Recipient of the Elizabeth W. Jones Award for Excellence in Education.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1223-1225}, doi = {10.1534/genetics.117.300416}, pmid = {29203699}, issn = {1943-2631}, mesh = {Awards and Prizes ; *Education ; Genetics/*education/history ; History, 20th Century ; History, 21st Century ; Humans ; Publications ; }, abstract = {The Genetics Society of America's Elizabeth W. Jones Award for Excellence in Education recognizes significant and sustained impact on genetics education. The 2017 recipient is Sally G. Hoskins, in recognition of her role in developing and promoting the transformative science education method CREATE (Consider, Read, Elucidate hypotheses, Analyze and interpret data, and Think of the next Experiment). This innovative approach uses primary literature to engage students, allowing them to experience for themselves the creativity and challenge of study design, analysis, interpretation, collaboration, and debate. Comprehensive evaluation of CREATE has consistently found that students improve in difficult-to-teach skills like critical thinking and experimental design, while showing improved attitudes and beliefs about science.This is an abridged version of the interview. The full interview is available on the Genes to Genomes blog, at genestogenomes.org/hoskins/.}, }
@article {pmid29203698, year = {2017}, author = {Kingsley, DM}, title = {Beautiful Piles of Bones: An Interview with 2017 Genetics Society of America Medal Recipient David M. Kingsley.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1221-1222}, doi = {10.1534/genetics.117.300415}, pmid = {29203698}, issn = {1943-2631}, mesh = {Animals ; Awards and Prizes ; *Biological Evolution ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Mutation ; Skeleton/*growth &amp; development ; Smegmamorpha/genetics ; }, abstract = {The Genetics Society of America Medal is awarded to an individual for outstanding contributions to the field of genetics in the last 15 years. Recipients of the GSA Medal are recognized for elegant and highly meaningful contributions to modern genetics, exemplifying the ingenuity of GSA membership. The 2017 recipient is David M. Kingsley, whose work in mouse, sticklebacks, and humans has shifted paradigms about how vertebrates evolve. Kingsley first fell in love with genetics in graduate school, where he worked on receptor mediated endocytosis with Monty Krieger. In his postdoctoral training he was able to unite genetics with his first scientific love: vertebrate morphology. He joined the group of Neal Copeland and Nancy Jenkins, where he led efforts to map the classical mouse skeletal mutation short ear Convinced that experimental genetics had a unique power to reveal the inner workings of evolution, Kingsley then established the stickleback fish as an extraordinarily productive model of quantitative trait evolution in wild species. He and his colleagues revealed many important insights, including the discoveries that major morphological differences can map to key loci with large effects, that regulatory changes in essential developmental control genes have produced advantageous new traits, and that nature has selected the same genes over and over again to drive the stickleback's skeletal evolution. Recently, Kingsley's group has been using these lessons to reveal more about how our own species evolved.This is an abridged version of the interview. The full interview is available on the Genes to Genomes blog, at genestogenomes.org/kingsley/.}, }
@article {pmid29203697, year = {2017}, author = {Hodgkin, J}, title = {Frontiers of Knowledge: An Interview with 2017 Edward Novitski Prize Recipient Jonathan Hodgkin.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1219-1220}, doi = {10.1534/genetics.117.300400}, pmid = {29203697}, issn = {1943-2631}, mesh = {Animals ; Awards and Prizes ; Caenorhabditis elegans/*genetics/physiology ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Sex Determination Processes ; }, abstract = {The Genetics Society of America'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 2017 winner, Jonathan Hodgkin, used elegant genetic studies to unravel the sex determination pathway in Caenorhabditis elegans He inferred the order of genes in the pathway and their modes of regulation using epistasis analyses-a powerful tool that was quickly adopted by other researchers. He expanded the number and use of informational suppressor mutants in C. elegans that are able to act on many genes. He also introduced the use of collections of wild C. elegans to study naturally occurring genetic variation, paving the way for SNP mapping and QTL analysis, as well as studies of hybrid incompatibilities between worm species. His current work focuses on nematode-bacterial interactions and innate immunity.}, }
@article {pmid29203696, year = {2017}, author = {Gerbi, SA}, title = {Treasure Your Exceptions: An Interview with 2017 George Beadle Award Recipient Susan A. Gerbi.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1215-1217}, doi = {10.1534/genetics.117.300398}, pmid = {29203696}, issn = {1943-2631}, mesh = {Awards and Prizes ; DNA/genetics ; DNA Replication/genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; RNA, Ribosomal/genetics ; }, abstract = {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. The 2017 recipient is Susan A. Gerbi, who has been a prominent leader and advocate for the scientific community. In the course of her research on DNA replication, Gerbi helped develop the method of Replication Initiation Point (RIP) mapping to map replication origins at the nucleotide level, improving resolution by two orders of magnitude. RIP mapping also provides the basis for the now popular use of λ-exonuclease to enrich nascent DNA to map replication origins genome-wide. Gerbi's second area of research on ribosomal RNA revealed a conserved core secondary structure, as well as conserved nucleotide elements (CNEs). Some CNEs are universally conserved, while other CNEs are conserved in all eukaryotes but not in archaea or bacteria, suggesting a eukaryotic function. Intriguingly, the majority of the eukaryotic-specific CNEs line the tunnel of the large ribosomal subunit through which the nascent polypeptide exits. Gerbi has promoted the fly Sciara coprophila as a model organism ever since she used its enormous polytene chromosomes to help develop the method of in situ hybridization during her Ph.D. research in Joe Gall's laboratory. The Gerbi laboratory maintains the Sciara International Stock Center and manages its future, actively spreading Sciara stocks to other laboratories. Gerbi has also served in many leadership roles, working on issues of science policy, women in science, scientific training, and career preparation. This is an abridged version of the interview. The full interview is available on the Genes to Genomes blog, at genestogenomes.org/gerbi.}, }
@article {pmid29203695, year = {2017}, author = {Lewontin, RC}, title = {Random Factors: An Interview with 2017 Thomas Hunt Morgan Medal Recipient Richard C. Lewontin.}, journal = {Genetics}, volume = {207}, number = {4}, pages = {1213-1214}, doi = {10.1534/genetics.117.300396}, pmid = {29203695}, issn = {1943-2631}, mesh = {Awards and Prizes ; *Biological Evolution ; Genetic Variation ; Genetics/*history ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {The Thomas Hunt Morgan Medal is awarded to an individual member of the Genetics Society of America for lifetime achievement in the field of genetics. It recognizes the full body of work of an exceptional geneticist. The 2017 recipient is Richard C. Lewontin, whose contributions and influence have profoundly shaped the field of evolutionary genetics. As a testament to this legacy, his nomination for the Morgan Medal was cosigned by 160 faculty members from around the world. A student of Theodosius Dobzhansky, Lewontin's early work established the two-locus theory, which laid the foundation for our understanding of linkage disequilibrium. In the 1960s, he collaborated with biochemist Jack Hubby on a method to quantify natural genetic variation using protein gel electrophoresis. This approach helped launch the field of molecular evolution and spurred a great influx of data into a formerly theory-dominated domain. The subsequent contributions of Lewontin and his group helped set the stage for much of modern population genetics and genomics research. As well as this direct impact, Lewontin influenced the field through his guidance and inspiration, as well as through his capacity to spur vigorous but productive debates. His prominent role as a writer and social commentator included highlighting problems with the inference of heritability, concepts of race, and the overemphasis of genetic influences on phenotypes.}, }
@article {pmid29195068, year = {2017}, author = {Rosbash, M}, title = {Life Is an N of 1.}, journal = {Cell}, volume = {171}, number = {6}, pages = {1241-1245}, doi = {10.1016/j.cell.2017.11.027}, pmid = {29195068}, issn = {1097-4172}, mesh = {Circadian Rhythm ; Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid29195067, year = {2017}, author = {Young, MW}, title = {As Time Flew By.}, journal = {Cell}, volume = {171}, number = {6}, pages = {1236-1240}, doi = {10.1016/j.cell.2017.11.022}, pmid = {29195067}, issn = {1097-4172}, mesh = {Animals ; *Circadian Rhythm ; Drosophila/*genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid29168817, year = {2017}, author = {Dolgin, E}, title = {The most popular genes in the human genome.}, journal = {Nature}, volume = {551}, number = {7681}, pages = {427-431}, doi = {10.1038/d41586-017-07291-9}, pmid = {29168817}, issn = {1476-4687}, mesh = {Animals ; Apolipoproteins E/genetics/metabolism ; *Bibliometrics ; Biomedical Research/history/*statistics &amp; numerical data ; CD4 Antigens/genetics/immunology ; Drosophila melanogaster/genetics ; GRB2 Adaptor Protein/genetics/metabolism ; *Genes, p53 ; Genetics/history/*statistics &amp; numerical data ; Genome, Human/*genetics ; Hemoglobins/genetics ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Mice ; Rats ; Tumor Necrosis Factor-alpha/genetics/metabolism ; Tumor Suppressor Protein p53/genetics/metabolism ; }, }
@article {pmid29137849, year = {2018}, author = {Kleinman, K}, title = {Genera, evolution, and botanists in 1940: Edgar Anderson's "Survey of Modern Opinion".}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {67}, number = {}, pages = {1-7}, doi = {10.1016/j.shpsc.2017.11.001}, pmid = {29137849}, issn = {1879-2499}, mesh = {*Biological Evolution ; Botany/*history ; Cell Biology/history ; Classification/*methods ; Genetics/history ; History, 20th Century ; Missouri ; Plants/*classification/genetics ; }, }
@article {pmid29128491, year = {2018}, author = {Harris, S and Reed, D and Vora, NL}, title = {Screening for fetal chromosomal and subchromosomal disorders.}, journal = {Seminars in fetal &amp; neonatal medicine}, volume = {23}, number = {2}, pages = {85-93}, pmid = {29128491}, issn = {1878-0946}, support = {K12 HD001441/HD/NICHD NIH HHS/United States ; K23 HD088742/HD/NICHD NIH HHS/United States ; }, mesh = {Aneuploidy ; Chromosome Disorders/*diagnosis/embryology/genetics/history ; DNA/blood/chemistry ; DNA Mutational Analysis/trends ; Female ; Genetic Counseling/history/trends ; Genetic Diseases, Inborn/*diagnosis/embryology/genetics/history ; Genetic Testing/*history/methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Pregnancy ; Prenatal Diagnosis/*history/methods/trends ; }, abstract = {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.}, }
@article {pmid29117606, year = {2018}, author = {Wigand, ME and Söhner, FP and Jäger, M and Becker, T and Wiegand, HF}, title = {[The Dawn of Modernity: Giovanni Boccaccio's "The Decameron" and the Tradition of Genetic Understanding].}, journal = {Fortschritte der Neurologie-Psychiatrie}, volume = {86}, number = {6}, pages = {335-341}, doi = {10.1055/s-0043-119795}, pmid = {29117606}, issn = {1439-3522}, mesh = {Genetics/*history ; History, 20th Century ; History, Medieval ; Humans ; *Literature ; Mental Disorders/*genetics/*history ; Psychiatry/*history ; }, abstract = {"The Decameron" by Giovanni Boccaccio is a work which stands between the Middle Ages and Modernity. There are theories which postulate that concepts of identity and individuality, which arose with the dawn of Modernity, have an influence on mental illness. We chose a hermeneutic approach towards "The Decameron" to analyse the depiction of a changing society, of love, mental suffering and the role of therapeutic interventions. We conclude that Boccaccio showed an interest in intrapsychic mechanisms, an idea pertaining to Modernity, and discuss this idea in light of today's psychiatry and Karl Jaspers' concept of "genetic understanding".}, }
@article {pmid29117019, year = {2017}, author = {Smoller, JW}, title = {A Quarter Century of Progress in Psychiatric Genetics.}, journal = {Harvard review of psychiatry}, volume = {25}, number = {6}, pages = {256-258}, pmid = {29117019}, issn = {1465-7309}, support = {K24 MH094614/MH/NIMH NIH HHS/United States ; }, mesh = {*Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Mental Disorders/*genetics ; *Psychiatry/history ; }, }
@article {pmid29116060, year = {2017}, author = {}, title = {[Academician Andrey Dar'evich Mirzabekov (to the 80th anniversary)].}, journal = {Molekuliarnaia biologiia}, volume = {51}, number = {5}, pages = {747-751}, pmid = {29116060}, issn = {0026-8984}, mesh = {Animals ; Anniversaries and Special Events ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Russia ; }, }
@article {pmid29105053, year = {2018}, author = {Harper, PS}, title = {Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.}, journal = {Clinical genetics}, volume = {94}, number = {1}, pages = {115-124}, doi = {10.1111/cge.13167}, pmid = {29105053}, issn = {1399-0004}, mesh = {Biomedical Research ; *Education, Medical/history/trends ; France ; *Genetics, Medical/education/history/legislation &amp; jurisprudence/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Interviews as Topic ; Medicine ; *Physicians ; *Research Personnel ; Science ; }, abstract = {The history of the beginnings of medical genetics in France is discussed, based on the personal perspective provided by recorded interviews with 16 early French workers in the field. The weakness of French genetics overall up to the beginning of the Second World War meant that post-war medical genetics had to start from new, with its origins largely derived from the medical fields of child health and the prevention of genetic disorders, rather than from basic science. The key people responsible for initiating these developments were Robert Debré and Maurice Lamy at Hôpital Necker in Paris and those interviewed included a number of their colleagues and successors, including Jean Frézal, Pierre Maroteaux, Josué Feingold, André and Joelle Boué, and Jean-Claude Kaplan. A separate group of paediatricians, originally at Hôpital Trousseau under Raymond Turpin, including Jérôme Lejeune, Marthe Gautier and Roland Berger, was responsible for major advances in human cytogenetics. Outside Paris, workers were interviewed from Marseille, Strasbourg and Nancy, although not from Lyon, where Jacques-Michel Robert was an early pioneer, particularly of genetic counselling. Challenges in the development of medical genetics in France included the advent of prenatal diagnosis with its ethical issues, the emergence of medical genetics as a distinct specialty from paediatrics, and its spread from Paris across France. These and other aspects are described by those interviewed from their own experiences, given in Appendix S1, while the fully edited transcripts for most interviews are accessible on the Web: www.genmedhist.org/interviews.}, }
@article {pmid29100068, year = {2017}, author = {Yuste, R}, title = {The Origins of the BRAIN Initiative: A Personal Journey.}, journal = {Cell}, volume = {171}, number = {4}, pages = {726-735}, doi = {10.1016/j.cell.2017.10.026}, pmid = {29100068}, issn = {1097-4172}, mesh = {Animals ; Brain/metabolism/physiology ; Calcium Signaling ; Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Neurosciences/*history ; Spain ; United States ; }, }
@article {pmid29082852, year = {2017}, author = {Calabrese, EJ}, title = {A glance into how the cold war and governmental loyalty investigations came to affect a leading U.S. radiation geneticist: Lewis J. Stadler's nightmare.}, journal = {Philosophy, ethics, and humanities in medicine : PEHM}, volume = {12}, number = {1}, pages = {8}, pmid = {29082852}, issn = {1747-5341}, mesh = {History, 20th Century ; Humans ; *Politics ; *Radiation Genetics/history ; United States ; }, abstract = {This paper describes an episode in the life of the prominent plant radiation geneticist, Lewis J. Stadler (1897-1954) during which he became a target of the Federal Bureau of Investigation (FBI) concerning loyalty to the United States due to possible associations with the communist party. The research is based on considerable private correspondence of Dr. Stadler, the FBI interrogatory questions and Dr. Stadler's answers and letters of support for Dr. Stadler by leading scientists such as, Hermann J. Muller.}, }
@article {pmid29074157, year = {2018}, author = {Besser, J and Carleton, HA and Gerner-Smidt, P and Lindsey, RL and Trees, E}, title = {Next-generation sequencing technologies and their application to the study and control of bacterial infections.}, journal = {Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases}, volume = {24}, number = {4}, pages = {335-341}, pmid = {29074157}, issn = {1469-0691}, support = {CC999999//Intramural CDC HHS/United States ; }, mesh = {Bacterial Infections/*diagnosis/*epidemiology ; High-Throughput Nucleotide Sequencing/history/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/history/*methods ; }, abstract = {BACKGROUND: With the efficiency and the decreasing cost of next-generation sequencing, the technology is being rapidly introduced into clinical and public health laboratory practice.<br><br>AIMS: The historical background and principles of first-, second- and third-generation sequencing are described, as are the characteristics of the most commonly used sequencing instruments.<br><br>SOURCES: Peer-reviewed literature, white papers and meeting reports.<br><br>CONTENT AND IMPLICATIONS: Next-generation sequencing is a technology that could potentially replace many traditional microbiological workflows, providing clinicians and public health specialists with more actionable information than hitherto achievable. Examples of the clinical and public health uses of the technology are provided. The challenge of comparability of different sequencing platforms is discussed. Finally, the future directions of the technology integrating it with laboratory management and public health surveillance systems, and moving it towards performing sequencing directly from the clinical specimen (metagenomics), could lead to yet another fundamental transformation of clinical diagnostics and public health surveillance.}, }
@article {pmid29058018, year = {2017}, author = {Gramelsberger, G}, title = {[Big Data Revolution or Data Hubris? : On the Data Positivism of Molecular Biology].}, journal = {NTM}, volume = {25}, number = {4}, pages = {459-483}, pmid = {29058018}, issn = {1420-9144}, mesh = {Algorithms ; *Big Data ; Data Science ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; Molecular Biology/*history ; Sequence Analysis, DNA/*history/methods ; }, abstract = {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.}, }
@article {pmid29042150, year = {2018}, author = {Krone, SM}, title = {Paul Joyce and the infinite alleles model.}, journal = {Theoretical population biology}, volume = {122}, number = {}, pages = {3-4}, doi = {10.1016/j.tpb.2017.10.001}, pmid = {29042150}, issn = {1096-0325}, mesh = {*Alleles ; Computer Simulation ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; *Models, Genetic ; Poisson Distribution ; }, abstract = {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.}, }
@article {pmid29039112, year = {2018}, author = {Button, C}, title = {James Cossar Ewart and the Origins of the Animal Breeding Research Department in Edinburgh, 1895-1920.}, journal = {Journal of the history of biology}, volume = {51}, number = {3}, pages = {445-477}, pmid = {29039112}, issn = {1573-0387}, support = {200428/Z/15/Z//Wellcome Trust/United Kingdom ; }, mesh = {Breeding/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Scotland ; Universities/*history ; }, abstract = {In 1919 the Animal Breeding Research Department was established in Edinburgh. This Department, later renamed the Institute of Animal Genetics, forged an international reputation, eventually becoming the centrepiece of a cluster of new genetics research units and institutions in Edinburgh after the Second World War. Yet despite its significance for institutionalising animal genetics research in the UK, the origins and development of the Department have not received as much scholarly attention as its importance warrants. This paper sheds new light on Edinburgh's place in early British genetics by drawing upon recently catalogued archival sources including the papers of James Cossar Ewart, Regius Professor of Natural History at the University of Edinburgh between 1882 and 1927. Although presently a marginal figure in genetics historiography, Ewart established two sites for experimental animal breeding work between 1895 and 1911 and played a central role in the founding of Britain's first genetics lectureship, also in 1911. These early efforts helped to secure government funding in 1913. However, a combination of the First World War, bureaucratic problems and Ewart's personal ambitions delayed the creation of the Department and the appointment of its director by another six years. This paper charts the institutionalisation of animal breeding and genetics research in Edinburgh within the wider contexts of British genetics and agriculture in the early twentieth century.}, }
@article {pmid29038982, year = {2017}, author = {Deichmann, U}, title = {Hierarchy, determinism, and specificity in theories of development and evolution.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {4}, pages = {33}, doi = {10.1007/s40656-017-0160-3}, pmid = {29038982}, issn = {0391-9714}, mesh = {*Biological Evolution ; Developmental Biology/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Systems Biology/history ; }, abstract = {The concepts of hierarchical organization, genetic determinism and biological specificity (for example of species, biologically relevant macromolecules, or genes) have played a crucial role in biology as a modern experimental science since its beginnings in the nineteenth century. The idea of genetic information (specificity) and genetic determination was at the basis of molecular biology that developed in the 1940s with macromolecules, viruses and prokaryotes as major objects of research often labelled "reductionist". However, the concepts have been marginalized or rejected in some of the research that in the late 1960s began to focus additionally on the molecularization of complex biological structures and functions using systems approaches. This paper challenges the view that 'molecular reductionism' has been successfully replaced by holism and a focus on the collective behaviour of cellular entities. It argues instead that there are more fertile replacements for molecular 'reductionism', in which genomics, embryology, biochemistry, and computer science intertwine and result in research that is as exact and causally predictive as earlier molecular biology.}, }
@article {pmid29038914, year = {2017}, author = {Morange, M}, title = {Homage to Eric Davidson.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {4}, pages = {30}, doi = {10.1007/s40656-017-0157-y}, pmid = {29038914}, issn = {0391-9714}, mesh = {Animals ; *Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; Models, Genetic ; Molecular Biology/*history ; Sea Urchins/embryology ; Systems Biology/history ; }, abstract = {The Britten-Davidson model of genetic regulation was well received by American molecular biologists and embryologists, but not by the members of the French School of molecular biology. In particular, François Jacob considered it too abstract and too removed from experiments. I re-examine the contrast between the Britten-Davidson model and the operon model by Jacob and Monod, the different scientific contexts in which they were produced and the different roles they played. I also describe my recent encounters with Eric Davidson, and how I discovered the extraordinary continuity of his work on the development of the sea urchin, as well as his rich personality.}, }
@article {pmid29038908, year = {2017}, author = {Deichmann, U}, title = {Eric Davidson, his philosophy, and the history of science.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {4}, pages = {31}, doi = {10.1007/s40656-017-0158-x}, pmid = {29038908}, issn = {0391-9714}, mesh = {Developmental Biology/*history ; *Gene Regulatory Networks ; History, 20th Century ; Molecular Biology/*history ; }, abstract = {Eric Davidson, a passionate molecular developmental biologist and intellectual, believed that conceptual advances in the sciences should be based on knowledge of conceptual history. Convinced of the superiority of a causal-analytical approach over other methods, he succeeded in successfully applying this approach to the complex feature of organismal development by introducing the far-reaching concept of developmental Gene Regulatory Networks. This essay reviews Davidson's philosophy, his support for the history of science, and some aspects of his scientific personality.}, }
@article {pmid29033228, year = {2017}, author = {Nicoglou, A and Merlin, F}, title = {Epigenetics: A way to bridge the gap between biological fields.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {66}, number = {}, pages = {73-82}, doi = {10.1016/j.shpsc.2017.10.002}, pmid = {29033228}, issn = {1879-2499}, mesh = {Developmental Biology/history ; *Epigenesis, Genetic ; Epigenomics/*history ; Heredity ; History, 20th Century ; United Kingdom ; }, abstract = {The concept of epigenetics has evolved since Waddington defined it from the late 1930s as the study of the causal mechanisms at work in development. It has become a multi-faceted notion with different meanings, depending on the disciplinary context it is used. In this article, we first analyse the transformations of the concept of epigenetics, from Waddington to contemporary accounts, in order to identify its different meanings and traditions, and to come up with a typology of epigenetics throughout its history. Second, we show on this basis that epigenetics has progressively turned its main focus from biological problems regarding development, toward issues concerning evolution. Yet, both these different epistemological aspects of epigenetics still coexist. Third, we claim that the classical opposition between epigenesis and preformationism as ways of thinking about the developmental process is part of the history of epigenetics and has contributed to its current various meanings. With these objectives in mind, we first show how Waddington introduced the term "epigenetics" in a biological context in order to solve a developmental problem, and we then build on this by presenting Nanney's, Riggs' and Holliday's definitions, which form the basis for the current conception of "molecular epigenetics". Then, we show that the evo-devo research field is where some particular uses of epigenetics have started shifting from developmental issues to evolutionary problems. We also show that epigenetics has progressively focused on the issue of epigenetic inheritance within the Extended Evolutionary Synthesis' framework. Finally, we conclude by presenting a typology of the different conceptions of epigenetics throughout time, and analyse the connections between them. We argue that, since Waddington, epigenetics, as an integrative research area, has been used to bridge the gap between different biological fields.}, }
@article {pmid29030730, year = {2017}, author = {Morange, M and Deichmann, U}, title = {Introduction: Eric Davidson and the molecular biology of evolution and development.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {4}, pages = {28}, doi = {10.1007/s40656-017-0155-0}, pmid = {29030730}, issn = {0391-9714}, mesh = {*Biological Evolution ; Developmental Biology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, abstract = {Between November 30th and December 2nd, 2015, the Jacques Loeb Centre for the History and Philosophy of the Life Sciences at Ben-Gurion University of the Negev in Beer Sheva (Israel) held its Eighth International Workshop under the title "From Genome to Gene: Causality, Synthesis and Evolution". Eric Davidson, the founder of the concept of developmental Gene Regulatory Networks, had regularly attended the previous meetings, and his participation in this one was expected, but he suddenly passed away 3 months before. In this paper, we provide an introduction and overview on five papers that were presented at the workshop and examine the importance of genomes and gene regulatory networks in extant biology, developmental biology, evolutionary biology and medicine, as well as a collection of remembrances of Eric Davidson, of his personality as well as of his scientific contributions. Historical perspectives are provided, and the ethical issues raised by the new tools developed to modify the genome are also discussed.}, }
@article {pmid29029161, year = {2017}, author = {}, title = {Society for Glycobiology Awards-2017.}, journal = {Glycobiology}, volume = {27}, number = {12}, pages = {1077-1080}, doi = {10.1093/glycob/cwx085}, pmid = {29029161}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; *Societies, Scientific ; }, }
@article {pmid29017033, year = {2017}, author = {Kolchinsky, EI and Kutschera, U and Hossfeld, U and Levit, GS}, title = {Russia's new Lysenkoism.}, journal = {Current biology : CB}, volume = {27}, number = {19}, pages = {R1042-R1047}, doi = {10.1016/j.cub.2017.07.045}, pmid = {29017033}, issn = {1879-0445}, mesh = {Crops, Agricultural/genetics ; Epigenesis, Genetic ; Epigenomics/history ; Genetics/*history ; History, 20th Century ; Plant Breeding/*history/methods ; Russia ; USSR ; }, abstract = {During the late 1940s and 1950s, a pseudo-scientific concept based on Marxist-Leninist ideology became internationally known as 'Lysenkoism'. Lysenkoism was a neo-Lamarckian idea, claiming that in crop plants, such as wheat, environmental influences are heritable via all cells of the organism. Lysenkoism was applied to agriculture during the Stalin era with disastrous consequences. Despite the triumphs of modern genetics, and the disproval of Lysenkoism, recent years have seen a 're-thinking' of this doctrine in Russia. This disturbing pro-Lysenko movement, which is accompanied by a growing sympathy for Stalin, claims to have its scientific roots in modern epigenetics, specifically the heritability of variation by mechanisms other than changes in DNA sequence. Based on recent research on the model plant Arabidopsis thaliana, its is clear that Lysenkoism has nothing to do with heritable 'epigenetic' modifications. Biologists should defend science against ideological and political interferences.}, }
@article {pmid28994388, year = {2017}, author = {Jordan, B}, title = {[Cancer: three eras of personalized medicine].}, journal = {Medecine sciences : M/S}, volume = {33}, number = {10}, pages = {905-908}, doi = {10.1051/medsci/20173310024}, pmid = {28994388}, issn = {1958-5381}, mesh = {Biomarkers, Tumor/genetics ; Gene Expression Profiling/history/methods/trends ; Gene Expression Regulation, Neoplastic ; Genomics/history/trends ; History, 20th Century ; History, 21st Century ; Humans ; *Medical Oncology/history/methods/trends ; Microarray Analysis/history/methods/trends ; Molecular Targeted Therapy/history/trends ; Neoplasms/diagnosis/*genetics/therapy ; Precision Medicine/*history/methods/*trends ; Prognosis ; }, abstract = {Since the completion of the first human DNA sequence, genomic approaches have penetrated into cancer research and therapy: first through expression profiling for diagnostic, prognostic and predictive purposes, then by sequencing of tumour DNA in order to define and apply targeted therapies. These overlapping changes occurred quite rapidly and are now overshadowed by immuno-oncology approaches that show much promise. There is however still much left to understand to make this more widely applicable, and the extreme cost of these therapies is a serious concern.}, }
@article {pmid28986915, year = {2018}, author = {Stevens, H}, title = {Globalizing Genomics: The Origins of the International Nucleotide Sequence Database Collaboration.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {657-691}, pmid = {28986915}, issn = {1573-0387}, support = {Tier 1//Ministry of Education - Singapore/International ; RG56/13//Ministry of Education - Singapore/International ; }, mesh = {Databases, Nucleic Acid/*history ; Europe ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Information Storage and Retrieval ; Japan ; Nucleotides/*analysis ; United States ; }, abstract = {Genomics is increasingly considered a global enterprise - the fact that biological information can flow rapidly around the planet is taken to be important to what genomics is and what it can achieve. However, the large-scale international circulation of nucleotide sequence information did not begin with the Human Genome Project. Efforts to formalize and institutionalize the circulation of sequence information emerged concurrently with the development of centralized facilities for collecting that information. That is, the very first databases build for collecting and sharing DNA sequence information were, from their outset, international collaborative enterprises. This paper describes the origins of the International Nucleotide Sequence Database Collaboration between GenBank in the United States, the European Molecular Biology Laboratory Databank, and the DNA Database of Japan. The technical and social groundwork for the international exchange of nucleotide sequences created the conditions of possibility for imagining nucleotide sequences (and subsequently genomes) as a "global" objects. The "transnationalism" of nucleotide sequence was critical to their ontology - what DNA sequences came to be during the Human Genome Project was deeply influenced by international exchange.}, }
@article {pmid28980196, year = {2018}, author = {O'Malley, MA}, title = {The Experimental Study of Bacterial Evolution and Its Implications for the Modern Synthesis of Evolutionary Biology.}, journal = {Journal of the history of biology}, volume = {51}, number = {2}, pages = {319-354}, pmid = {28980196}, issn = {1573-0387}, support = {IdEX//Université de Bordeaux/International ; }, mesh = {Bacteria/*genetics ; Biochemistry/*history ; *Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Microbiology/*history ; *Selection, Genetic ; }, abstract = {Since the 1940s, microbiologists, biochemists and population geneticists have experimented with the genetic mechanisms of microorganisms in order to investigate evolutionary processes. These evolutionary studies of bacteria and other microorganisms gained some recognition from the standard-bearers of the modern synthesis of evolutionary biology, especially Theodosius Dobzhansky and Ledyard Stebbins. A further period of post-synthesis bacterial evolutionary research occurred between the 1950s and 1980s. These experimental analyses focused on the evolution of population and genetic structure, the adaptive gain of new functions, and the evolutionary consequences of competition dynamics. This large body of research aimed to make evolutionary theory testable and predictive, by giving it mechanistic underpinnings. Although evolutionary microbiologists promoted bacterial experiments as methodologically advantageous and a source of general insight into evolution, they also acknowledged the biological differences of bacteria. My historical overview concludes with reflections on what bacterial evolutionary research achieved in this period, and its implications for the still-developing modern synthesis.}, }
@article {pmid28968595, year = {2017}, author = {}, title = {Ingemar Gustavsson (1938-2016).}, journal = {Cytogenetic and genome research}, volume = {152}, number = {4}, pages = {167-168}, doi = {10.1159/000480744}, pmid = {28968595}, issn = {1424-859X}, mesh = {Animals ; Breeding/history ; Cytogenetics/*history ; Female ; History, 20th Century ; History, 21st Century ; Livestock/genetics ; Male ; Sweden ; Veterinary Medicine/*history ; }, }
@article {pmid28950406, year = {2018}, author = {Harel, T and Lupski, JR}, title = {Genomic disorders 20 years on-mechanisms for clinical manifestations.}, journal = {Clinical genetics}, volume = {93}, number = {3}, pages = {439-449}, doi = {10.1111/cge.13146}, pmid = {28950406}, issn = {1399-0004}, mesh = {DNA Copy Number Variations ; *Genetic Association Studies ; Genetic Diseases, Inborn/diagnosis/*genetics ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Genome, Human ; Genomic Instability ; *Genomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype ; }, abstract = {Genomic disorders result from copy-number variants (CNVs) or submicroscopic rearrangements of the genome rather than from single nucleotide variants (SNVs). Diverse technologies, including array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) microarrays, and more recently, whole genome sequencing and whole-exome sequencing, have enabled robust genome-wide unbiased detection of CNVs in affected individuals and in reportedly healthy controls. Sequencing of breakpoint junctions has allowed for elucidation of upstream mechanisms leading to genomic instability and resultant structural variation, whereas studies of the association between CNVs and specific diseases or susceptibility to morbid traits have enhanced our understanding of the downstream effects. In this review, we discuss the hallmarks of genomic disorders as they were defined during the first decade of the field, including genomic instability and the mechanism for rearrangement defined as nonallelic homologous recombination (NAHR); recurrent vs nonrecurrent rearrangements; and gene dosage sensitivity. Moreover, we highlight the exciting advances of the second decade of this field, including a deeper understanding of genomic instability and the mechanisms underlying complex rearrangements, mechanisms for constitutional and somatic chromosomal rearrangements, structural intra-species polymorphisms and susceptibility to NAHR, the role of CNVs in the context of genome-wide copy number and single nucleotide variation, and the contribution of noncoding CNVs to human disease.}, }
@article {pmid28947653, year = {2017}, author = {Heard, E and Brockdorff, N}, title = {Preface.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {372}, number = {1733}, pages = {}, pmid = {28947653}, issn = {1471-2970}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mammals/*genetics/growth &amp; development ; Mice ; United Kingdom ; *X Chromosome Inactivation ; }, }
@article {pmid28888231, year = {2017}, author = {}, title = {Preface to glyco-neuroscience.}, journal = {Biochimica et biophysica acta. General subjects}, volume = {1861}, number = {10}, pages = {2417-2419}, doi = {10.1016/j.bbagen.2017.08.009}, pmid = {28888231}, issn = {0304-4165}, mesh = {Animals ; Central Nervous System/*metabolism/physiology/physiopathology ; Glycolipids/chemistry/*metabolism ; Glycomics/*history/methods ; Glycosaminoglycans/chemistry/*metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Neuronal Plasticity/physiology ; Neurosciences/*history/methods ; Synaptic Transmission/physiology ; Workforce ; }, }
@article {pmid28886375, year = {2017}, author = {Chomet, P and Martienssen, R}, title = {Barbara McClintock's Final Years as Nobelist and Mentor: A Memoir.}, journal = {Cell}, volume = {170}, number = {6}, pages = {1049-1054}, doi = {10.1016/j.cell.2017.08.040}, pmid = {28886375}, issn = {1097-4172}, support = {R01 GM067014/GM/NIGMS NIH HHS/United States ; }, mesh = {*DNA Transposable Elements ; Genes, Plant ; Genetics/*education/history ; History, 20th Century ; Nobel Prize ; Physiology/history ; Zea mays/genetics ; }, abstract = {September 2, 2017, marks the 25th year after the passing of Dr. Barbara McClintock, geneticist and recipient of the 1983 Nobel Prize in Physiology or Medicine for her discovery of transposable elements in maize. This memoir focuses on the last years of her life-after the prize-and includes personal recollections of how she mentored young scientists and inspired the age of genetics, epigenetics, and genomics.}, }
@article {pmid28876334, year = {2018}, author = {Leitzmann, C}, title = {Whole new concepts of nutrition.}, journal = {European journal of clinical nutrition}, volume = {72}, number = {1}, pages = {1-3}, pmid = {28876334}, issn = {1476-5640}, mesh = {Animals ; Biochemistry/education/*history ; Chemistry/education/history ; Conservation of Natural Resources/history/trends ; Diet, Healthy/*history/trends ; Germany ; Healthy Lifestyle ; History, 20th Century ; History, 21st Century ; Humans ; Malnutrition/*history/prevention &amp; control/therapy ; Molecular Biology/education/history ; Nutritional Sciences/education/*history ; Organic Agriculture/history/trends ; United States ; }, }
@article {pmid28874451, year = {2017}, author = {Zhang, H and Chen, W and Sun, K}, title = {Mendelism: New Insights from Gregor Mendel's Lectures in Brno.}, journal = {Genetics}, volume = {207}, number = {1}, pages = {1-8}, pmid = {28874451}, issn = {1943-2631}, mesh = {Austria-Hungary ; Congresses as Topic/history ; Genetics/*history ; History, 19th Century ; Peas/genetics ; Periodicals as Topic/*history ; Societies, Scientific/history ; }, abstract = {Interpretation of Gregor Mendel's work has previously been based on study of his published paper "Experiments in Plant Hybridization." In contrast, the lectures that he gave preceding publication of this work have been largely neglected for more than 150 years. Here, we report on and interpret the content of Mendel's previous two lectures, as they were reported in a local newspaper. We comprehensively reference both the text of his paper and the historical background of his experiments. Our analysis shows that while Mendel had inherited the traditional research program on interspecific hybridization in plants, he introduced the novel method of ratio analysis for representing the variation of unit-characters among offspring of hybrids. His aim was to characterize and explain the developmental features of the distributional pattern of unit-characters in two series of hybrid experiments, using self-crosses and backcrosses with parents. In doing so, he not only answered the question of what the unit-characters were and the nature of their hierarchical classification, but also successfully inferred the numerical principle of unit-character transmission from generation to generation. He also established the nature of the composition and behaviors of reproductive cells from one generation to the next. Here we highlight the evidence from Mendel's lectures, clearly announcing that he had discovered the general law of cross-generation transmission of unit-characters through reproductive cells containing unit-factors. The recovered content of these previous lectures more accurately describes the work he performed with his garden peas than his published paper and shows how he first presented it in Brno. It is thus an invaluable resource for understanding the origin of the science of genetics.}, }
@article {pmid28863441, year = {2017}, author = {}, title = {Dr Fauconnier talks to genomics expert, Prof. McCarthy.}, journal = {Cardiovascular research}, volume = {113}, number = {8}, pages = {e26}, doi = {10.1093/cvr/cvx102}, pmid = {28863441}, issn = {1755-3245}, mesh = {Animals ; Diabetes Mellitus, Type 2/genetics/*history ; Genetic Predisposition to Disease ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Translational Medical Research/*history ; }, }
@article {pmid28795350, year = {2017}, author = {Peterson, EL}, title = {'So far like the present period': a reply to 'C.H. Waddington's differences with the creators of the Modern Evolutionary Synthesis: a Tale of Two Genes'.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {3}, pages = {19}, doi = {10.1007/s40656-017-0145-2}, pmid = {28795350}, issn = {0391-9714}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; *Models, Genetic ; Phenotype ; Systems Biology ; }, }
@article {pmid28794693, year = {2018}, author = {Harper, PS}, title = {Human genetics in troubled times and places.}, journal = {Hereditas}, volume = {155}, number = {}, pages = {7}, pmid = {28794693}, issn = {1601-5223}, mesh = {Communism ; Eugenics ; Europe ; Genetics, Medical/*history ; Germany ; History, 20th Century ; Humans ; National Socialism ; Russia ; Warfare ; }, abstract = {The development of human genetics world-wide during the twentieth century, especially across Europe, has occurred against a background of repeated catastrophes, including two world wars and the ideological problems and repression posed by Nazism and Communism. The published scientific literature gives few hints of these problems and there is a danger that they will be forgotten. The First World War was largely indiscriminate in its carnage, but World War 2 and the preceding years of fascism were associated with widespread migration, especially of Jewish workers expelled from Germany, and of their children, a number of whom would become major contributors to the post-war generation of human and medical geneticists in Britain and America. In Germany itself, eminent geneticists were also involved in the abuses carried out in the name of 'eugenics' and 'race biology'. However, geneticists in America, Britain and the rest of Europe were largely responsible for the ideological foundations of these abuses. In the Soviet Union, geneticists and genetics itself became the object of persecution from the 1930s till as late as the mid 1960s, with an almost complete destruction of the field during this time; this extended also to Eastern Europe and China as part of the influence of Russian communism. Most recently, at the end of the twentieth century, China saw a renewal of government sponsored eugenics programmes, now mostly discarded. During the post-world war 2 decades, human genetics research benefited greatly from recognition of the genetic dangers posed by exposure to radiation, following the atomic bomb explosions in Japan, atmospheric testing and successive accidental nuclear disasters in Russia. Documenting and remembering these traumatic events, now largely forgotten among younger workers, is essential if we are to fully understand the history of human genetics and avoid the repetition of similar disasters in the future. The power of modern human genetic and genomic techniques now gives a greater potential for abuse as well as for beneficial use than has ever been seen in the past.}, }
@article {pmid28792402, year = {2017}, author = {Lane, R}, title = {Fowzan Alkuraya: leading light in Saudi Human Genome Program.}, journal = {Lancet (London, England)}, volume = {390}, number = {10093}, pages = {446}, doi = {10.1016/S0140-6736(17)31908-6}, pmid = {28792402}, issn = {1474-547X}, mesh = {Genetic Diseases, Inborn/genetics/history ; *Genome, Human ; Genomics/*history ; History, 21st Century ; Humans ; Portraits as Topic ; Saudi Arabia ; }, }
@article {pmid28791592, year = {2017}, author = {Bard, JBL}, title = {C.H. Waddington's differences with the creators of the modern evolutionary synthesis: a tale of two genes.}, journal = {History and philosophy of the life sciences}, volume = {39}, number = {3}, pages = {18}, pmid = {28791592}, issn = {0391-9714}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; *Models, Genetic ; Phenotype ; Systems Biology ; }, abstract = {In 2011, Peterson suggested that the main reason why C.H. Waddington was essentially ignored by the framers of the modern evolutionary synthesis in the 1950s was because they were Cartesian reductionists and mathematical population geneticists while he was a Whiteheadian organicist and experimental geneticist who worked with Drosophila. This paper suggests a further reason that can only be seen now. The former defined genes and their alleles by their selectable phenotypes, essentially the Mendelian view, while Waddington defined a gene through its functional role as determined by genetic analysis, a view that foresaw the modern view that a gene is a DNA sequence with some function. The former were interested in selection, while Waddington focused on variation. The differences between the two views of a gene are briefly considered in the context of systems biology.}, }
@article {pmid28784780, year = {2017}, author = {Griswold, A}, title = {Profile of Nahum Sonenberg.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {114}, number = {34}, pages = {8905-8907}, pmid = {28784780}, issn = {1091-6490}, mesh = {Biochemistry/*history ; Canada ; History, 20th Century ; History, 21st Century ; Molecular Biology/history ; }, }
@article {pmid28763078, year = {2017}, author = {García-Sáinz, JA}, title = {[Conference Dr. Ignacio Chávez. Moving towards molecular medicine].}, journal = {Gaceta medica de Mexico}, volume = {153}, number = {3}, pages = {379-382}, pmid = {28763078}, issn = {0016-3813}, mesh = {History, 20th Century ; Humans ; Mexico ; Molecular Medicine/history/*trends ; }, abstract = {El solo nombre del Dr. Ignacio Chávez y la calidad académica de los que me han precedido me hacen sentir emocionado, consciente de que me encuentro sobre los hombros de grandes aportadores a nuestra medicina.}, }
@article {pmid28755204, year = {2017}, author = {Yan, W and Huang, B and Ruan, L and Tan, W}, title = {Dr. Chi-Ming Chu: Respected founder of molecular virology and pioneer of biologicals in China.}, journal = {Protein &amp; cell}, volume = {8}, number = {9}, pages = {629-633}, pmid = {28755204}, issn = {1674-8018}, mesh = {China ; Hepatitis B virus/immunology ; History, 20th Century ; Humans ; Molecular Biology/*history ; Orthomyxoviridae/immunology ; Viral Vaccines/*immunology ; Virology/*history ; }, }
@article {pmid28753598, year = {2017}, author = {Marx, V}, title = {Genetics: new tales from ancient DNA.}, journal = {Nature methods}, volume = {14}, number = {8}, pages = {771-774}, pmid = {28753598}, issn = {1548-7105}, mesh = {DNA, Ancient/*isolation &amp; purification ; Fossils ; *Genetics, Population/history/methods ; *Genome, Human ; History, Ancient ; Humans ; }, }
@article {pmid28744655, year = {2018}, author = {de Chadarevian, S}, title = {Whose Turn? Chromosome Research and the Study of the Human Genome.}, journal = {Journal of the history of biology}, volume = {51}, number = {4}, pages = {631-655}, pmid = {28744655}, issn = {1573-0387}, support = {1534814//National Science Foundation (US)/International ; }, mesh = {Chromosomes, Human/*genetics ; *Genome, Human ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; Molecular Biology/*history ; }, abstract = {A common account sees the human genome sequencing project of the 1990s as a "natural outgrowth" of the deciphering of the double helical structure of DNA in the 1950s. The essay aims to complicate this neat narrative by putting the spotlight on the field of human chromosome research that flourished at the same time as molecular biology. It suggests that we need to consider both endeavors - the human cytogeneticists who collected samples and looked down the microscope and the molecular biologists who probed the molecular mechanisms of gene function - to understand the rise of the human genome sequencing project and the current genomic practices. In particular, it proposes that what has often been described as the "molecularization" of cytogenetics could equally well be viewed as the turn of molecular biologists to human and medical genetics - a field long occupied by cytogeneticists. These considerations also have implications for the archives that are constructed for future historians and policy makers.}, }
@article {pmid28713021, year = {2017}, author = {Szymanski, M and Barciszewski, J}, title = {The path to the genetic code.}, journal = {Biochimica et biophysica acta. General subjects}, volume = {1861}, number = {11 Pt A}, pages = {2674-2679}, doi = {10.1016/j.bbagen.2017.07.009}, pmid = {28713021}, issn = {0304-4165}, mesh = {Amino Acid Sequence/genetics ; Genetic Code/*genetics ; Genetics/*history ; History, 20th Century ; Humans ; Proteins/*genetics ; }, abstract = {In December of 1966 the last nucleotide triplet in the genetic code has been assigned (Brenner et al., 1967 [1]) thus completing years of studies aimed at deciphering the nature of the relationship between the sequences of genes and proteins. The end product, the table of the genetic code, was a crowning achievement of the quest to unravel the basic mechanisms underlying functioning of all living organisms on the molecular level.}, }
@article {pmid28707870, year = {2016}, author = {Wood, RJ}, title = {News of the Profession: Eloge.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {107}, number = {3}, pages = {597-600}, doi = {10.1086/688393}, pmid = {28707870}, issn = {0021-1753}, mesh = {Czech Republic ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Natural Science Disciplines/history ; Science/*history ; }, }
@article {pmid28669541, year = {2018}, author = {Rose, NC and Wick, M}, title = {Carrier screening for single gene disorders.}, journal = {Seminars in fetal &amp; neonatal medicine}, volume = {23}, number = {2}, pages = {78-84}, doi = {10.1016/j.siny.2017.06.001}, pmid = {28669541}, issn = {1878-0946}, support = {P20 HG007249/HG/NHGRI NIH HHS/United States ; }, mesh = {Family Health/ethnology ; Female ; Founder Effect ; Genetic Carrier Screening/*history/methods/trends ; Genetic Counseling/history/trends ; Genetic Diseases, Inborn/*diagnosis/ethnology/genetics/history ; Health Services Accessibility/history ; History, 20th Century ; History, 21st Century ; Humans ; Infant, Newborn ; Male ; *Models, Genetic ; *Mutation ; Neonatal Screening/*methods/trends ; Preconception Care/methods/trends ; Prenatal Diagnosis/*methods/trends ; Whole Exome Sequencing ; }, abstract = {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.}, }
@article {pmid28630107, year = {2017}, author = {McMurry, MT and Krangel, MS}, title = {Pillars Article: A Role for Histone Acetylation in the Developmental Regulation of V(D)J Recombination. Science. 2000. 287: 495-498.}, journal = {Journal of immunology (Baltimore, Md. : 1950)}, volume = {199}, number = {1}, pages = {5-8}, pmid = {28630107}, issn = {1550-6606}, mesh = {Acetylation ; Allergy and Immunology/*history ; Animals ; Genetics/*history ; Histones/*metabolism ; History, 20th Century ; Humans ; Mice ; *Protein Processing, Post-Translational ; V(D)J Recombination/*genetics/immunology ; }, }
@article {pmid28625999, year = {2017}, author = {Casadio, M}, title = {Andrea Ventura: Decrypting noncoding RNAs.}, journal = {The Journal of cell biology}, volume = {216}, number = {7}, pages = {1866-1867}, pmid = {28625999}, issn = {1540-8140}, mesh = {Biomedical Research/*history ; Career Choice ; Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Nucleic Acid Conformation ; RNA, Untranslated/chemistry/genetics/*history/metabolism ; Structure-Activity Relationship ; }, abstract = {Ventura explores the biological functions of noncoding RNAs in cancer and development.}, }
@article {pmid28621497, year = {2017}, author = {Hinderlich, S and Tauber, R and Bertozzi, CR and Hackenberger, CPR}, title = {Werner Reutter: A Visionary Pioneer in Molecular Glycobiology.}, journal = {Chembiochem : a European journal of chemical biology}, volume = {18}, number = {13}, pages = {1141-1145}, doi = {10.1002/cbic.201700277}, pmid = {28621497}, issn = {1439-7633}, mesh = {Carbohydrate Metabolism/genetics ; *Glycomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Metabolic Engineering/history/methods ; *Molecular Biology/history/methods ; Sialic Acids/genetics/metabolism ; Workforce ; }, abstract = {A creative pioneer: Werner Reutter (1937-2016) was a scientist who both made fundamental discoveries in glycobiology and reached out to disciplines beyond his core field. Many of his former colleagues and students will remember his desire to exchange research ideas, which ultimately contributed to the birth of new research fields.}, }
@article {pmid28619099, year = {2017}, author = {Zhang, C and Lu, Y and Feng, Q and Wang, X and Lou, H and Liu, J and Ning, Z and Yuan, K and Wang, Y and Zhou, Y and Deng, L and Liu, L and Yang, Y and Li, S and Ma, L and Zhang, Z and Jin, L and Su, B and Kang, L and Xu, S}, title = {Differentiated demographic histories and local adaptations between Sherpas and Tibetans.}, journal = {Genome biology}, volume = {18}, number = {1}, pages = {115}, pmid = {28619099}, issn = {1474-760X}, mesh = {Acclimatization/*genetics ; Adaptation, Physiological/*genetics ; Altitude ; Altitude Sickness/*genetics ; Asian Continental Ancestry Group/genetics ; Ethnic Groups/genetics ; *Genetic Variation ; Genetics, Population/history ; Genotype ; Haplotypes/genetics ; History, Ancient ; Humans ; Tibet ; }, abstract = {BACKGROUND: The genetic relationships reported by recent studies between Sherpas and Tibetans are controversial. To gain insights into the population history and the genetic basis of high-altitude adaptation of the two groups, we analyzed genome-wide data in 111 Sherpas (Tibet and Nepal) and 177 Tibetans (Tibet and Qinghai), together with available data from present-day human populations.<br><br>RESULTS: Sherpas and Tibetans show considerable genetic differences and can be distinguished as two distinct groups, even though the divergence between them (~3200-11,300 years ago) is much later than that between Han Chinese and either of the two groups (~6200-16,000 years ago). Sub-population structures exist in both Sherpas and Tibetans, corresponding to geographical or linguistic groups. Differentiation of genetic variants between Sherpas and Tibetans associated with adaptation to either high-altitude or ultraviolet radiation were identified and validated by genotyping additional Sherpa and Tibetan samples.<br><br>CONCLUSIONS: Our analyses indicate that both Sherpas and Tibetans are admixed populations, but the findings do not support the previous hypothesis that Tibetans derive their ancestry from Sherpas and Han Chinese. Compared to Tibetans, Sherpas show higher levels of South Asian ancestry, while Tibetans show higher levels of East Asian and Central Asian/Siberian ancestry. We propose a new model to elucidate the differentiated demographic histories and local adaptations of Sherpas and Tibetans.}, }
@article {pmid28615365, year = {2018}, author = {Bossé, Y and Amos, CI}, title = {A Decade of GWAS Results in Lung Cancer.}, journal = {Cancer epidemiology, biomarkers &amp; prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology}, volume = {27}, number = {4}, pages = {363-379}, pmid = {28615365}, issn = {1538-7755}, support = {U19 CA203654/CA/NCI NIH HHS/United States ; }, mesh = {Datasets as Topic ; Genetic Loci ; *Genetic Predisposition to Disease ; Genome-Wide Association Study/*history ; Genomics/history/*methods ; History, 21st Century ; Humans ; Lung Neoplasms/*genetics/mortality/therapy ; Polymorphism, Single Nucleotide ; Precision Medicine/methods ; Smoking ; }, abstract = {Genome-wide association studies (GWAS) were successful to identify genetic factors robustly associated with lung cancer. This review aims to synthesize the literature in this field and accelerate the translation of GWAS discoveries into results that are closer to clinical applications. A chronologic presentation of published GWAS on lung cancer susceptibility, survival, and response to treatment is presented. The most important results are tabulated to provide a concise overview in one read. GWAS have reported 45 lung cancer susceptibility loci with varying strength of evidence and highlighted suspected causal genes at each locus. Some genetic risk loci have been refined to more homogeneous subgroups of lung cancer patients in terms of histologic subtypes, smoking status, gender, and ethnicity. Overall, these discoveries are an important step for future development of new therapeutic targets and biomarkers to personalize and improve the quality of care for patients. GWAS results are on the edge of offering new tools for targeted screening in high-risk individuals, but more research is needed if GWAS are to pay off the investment. Complementary genomic datasets and functional studies are needed to refine the underlying molecular mechanisms of lung cancer preliminarily revealed by GWAS and reach results that are medically actionable. Cancer Epidemiol Biomarkers Prev; 27(4); 363-79. ©2018 AACRSee all articles in this CEBP Focus section, "Genome-Wide Association Studies in Cancer."}, }
@article {pmid28600396, year = {2017}, author = {Rosbash, M}, title = {A 50-Year Personal Journey: Location, Gene Expression, and Circadian Rhythms.}, journal = {Cold Spring Harbor perspectives in biology}, volume = {9}, number = {12}, pages = {}, pmid = {28600396}, issn = {1943-0264}, mesh = {Animals ; *Circadian Rhythm ; Cloning, Molecular ; DNA, Recombinant/genetics ; Gene Expression ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Massachusetts ; Molecular Biology/*history ; Universities ; }, abstract = {I worked almost exclusively on nucleic acids and gene expression from the age of 19 as an undergraduate until the age of 38 as an associate professor. Mentors featured prominently in my choice of paths. My friendship with influential Brandeis colleagues then persuaded me that genetics was an important tool for studying gene expression, and I switched my experimental organism to yeast for this reason. Several years later, friendship also played a prominent role in my beginning work on circadian rhythms. As luck would have it, gene expression as well as genetics turned out to be important for circadian timekeeping. As a consequence, background and training put my laboratory in an excellent position to contribute to this aspect of the circadian problem. The moral of the story is, as in real estate, "location, location, location."}, }
@article {pmid28592501, year = {2017}, author = {Strauss, BS}, title = {A Physicist's Quest in Biology: Max Delbrück and "Complementarity".}, journal = {Genetics}, volume = {206}, number = {2}, pages = {641-650}, pmid = {28592501}, issn = {1943-2631}, mesh = {DNA Replication/*genetics ; History, 20th Century ; Humans ; Molecular Biology/*history ; Nobel Prize ; Science/*history ; }, abstract = {Max Delbrück was trained as a physicist but made his major contribution in biology and ultimately shared a Nobel Prize in Physiology or Medicine. He was the acknowledged leader of the founders of molecular biology, yet he failed to achieve his key scientific goals. His ultimate scientific aim was to find evidence for physical laws unique to biology: so-called "complementarity." He never did. The specific problem he initially wanted to solve was the nature of biological replication but the discovery of the mechanism of replication was made by others, in large part because of his disdain for the details of biochemistry. His later career was spent investigating the effect of light on the fungus Phycomyces, a topic that turned out to be of limited general interest. He was known both for his informality but also for his legendary displays of devastating criticism. His life and that of some of his closest colleagues was acted out against a background of a world in conflict. This essay describes the man and his career and searches for an explanation of his profound influence.}, }
@article {pmid28581505, year = {2017}, author = {Barrangou, R and Horvath, P}, title = {A decade of discovery: CRISPR functions and applications.}, journal = {Nature microbiology}, volume = {2}, number = {}, pages = {17092}, pmid = {28581505}, issn = {2058-5276}, mesh = {Archaea/enzymology/genetics ; Bacteria/*enzymology/*genetics ; *CRISPR-Cas Systems ; Gene Editing/history/*methods ; History, 21st Century ; Molecular Biology/history/methods ; }, abstract = {This year marks the tenth anniversary of the identification of the biological function of CRISPR-Cas as adaptive immune systems in bacteria. In just a decade, the characterization of CRISPR-Cas systems has established a novel means of adaptive immunity in bacteria and archaea and deepened our understanding of the interplay between prokaryotes and their environment, and CRISPR-based molecular machines have been repurposed to enable a genome editing revolution. Here, we look back on the historical milestones that have paved the way for the discovery of CRISPR and its function, and discuss the related technological applications that have emerged, with a focus on microbiology. Lastly, we provide a perspective on the impacts the field has had on science and beyond.}, }
@article {pmid28569346, year = {2017}, author = {Jost, J}, title = {Relations and dependencies between morphological characters.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {136}, number = {1-2}, pages = {69-83}, pmid = {28569346}, issn = {1611-7530}, mesh = {Algorithms ; Animals ; *Biological Evolution ; Biology/history ; Classification ; Developmental Biology/*history/methods ; Genetics/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Metamorphosis, Biological ; Models, Theoretical ; Phylogeny ; Plant Physiological Phenomena ; }, abstract = {In biological classification, a character is a property of a taxon that can distinguish it from other taxa. Characters are not independent, and the relations between characters can arise from structural constraints, developmental pathways or functional constraints. That has lead to famous controversies in the history of biology. In addition, a character as a tool of data analysis has some subjective aspects. In this contribution, I develop algebraic and geometric schemes to address these issues in a mathematical framework.}, }
@article {pmid28548882, year = {2017}, author = {Skalka, AMA}, title = {Finding, Conducting, and Nurturing Science: A Virologist's Memoir.}, journal = {Annual review of virology}, volume = {4}, number = {1}, pages = {1-35}, doi = {10.1146/annurev-virology-101416-042011}, pmid = {28548882}, issn = {2327-0578}, mesh = {Bacteriophages/genetics ; Biochemistry/*history ; Biomedical Research ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA-Directed DNA Polymerase ; Recombination, Genetic/genetics ; Retroviridae ; United States ; Virology/*history ; }, abstract = {My laboratory investigations have been driven by an abiding interest in understanding the consequences of genetic rearrangement in evolution and disease, and in using viruses to elucidate fundamental mechanisms in biology. Starting with bacteriophages and moving to the retroviruses, my use of the tools of genetics, molecular biology, biochemistry, and biophysics has spanned more than half a century-from the time when DNA structure was just discovered to the present day of big data and epigenetics. Both riding and contributing to the successive waves of technology, my laboratory has elucidated fundamental mechanisms in DNA replication, repair, and recombination. We have made substantial contributions in the area of retroviral oncogenesis, delineated mechanisms that control retroviral gene expression, and elucidated critical details of the structure and function of the retroviral enzymes-reverse transcriptase, protease, and integrase-and have had the satisfaction of knowing that the fundamental knowledge gained from these studies contributed important groundwork for the eventual development of antiviral drugs to treat AIDS. While pursuing laboratory research as a principal investigator, I have also been a science administrator-moving from laboratory head to department chair and, finally, to institute director. In addition, I have undertaken a number of community service, science-related "extracurricular" activities during this time. Filling all of these roles, while being a wife and mother, has required family love and support, creative management, and, above all, personal flexibility-with not too much long-term planning. I hope that this description of my journey, with various roles, obstacles, and successes, will be both interesting and informative, especially to young female scientists.}, }
@article {pmid28544016, year = {2018}, author = {Singh, V and Gohil, N and Ramírez García, R and Braddick, D and Fofié, CK}, title = {Recent Advances in CRISPR-Cas9 Genome Editing Technology for Biological and Biomedical Investigations.}, journal = {Journal of cellular biochemistry}, volume = {119}, number = {1}, pages = {81-94}, doi = {10.1002/jcb.26165}, pmid = {28544016}, issn = {1097-4644}, mesh = {Animals ; Bacterial Infections/therapy ; *CRISPR-Cas Systems ; *Gene Editing ; Genetics, Microbial/history ; Genomics ; History, 20th Century ; History, 21st Century ; Humans ; Models, Animal ; Neoplasms/therapy ; Therapeutics ; Virus Diseases/therapy ; }, abstract = {The Type II CRISPR-Cas9 system is a simple, efficient, and versatile tool for targeted genome editing in a wide range of organisms and cell types. It continues to gain more scientific interest and has established itself as an extremely powerful technology within our synthetic biology toolkit. It works upon a targeted site and generates a double strand breaks that become repaired by either the NHEJ or the HDR pathway, modifying or permanently replacing the genomic target sequences of interest. These can include viral targets, single-mutation genetic diseases, and multiple-site corrections for wide scale disease states, offering the potential to manage and cure some of mankind's most persistent biomedical menaces. Here, we present the developing progress and future potential of CRISPR-Cas9 in biological and biomedical investigations, toward numerous therapeutic, biomedical, and biotechnological applications, as well as some of the challenges within. J. Cell. Biochem. 119: 81-94, 2018. © 2017 Wiley Periodicals, Inc.}, }
@article {pmid28538703, year = {2017}, author = {Hayes, S and Mahony, J and Nauta, A and van Sinderen, D}, title = {Metagenomic Approaches to Assess Bacteriophages in Various Environmental Niches.}, journal = {Viruses}, volume = {9}, number = {6}, pages = {}, pmid = {28538703}, issn = {1999-4915}, mesh = {Bacteriophages/*classification/genetics/*isolation &amp; purification ; *Environmental Microbiology ; History, 20th Century ; History, 21st Century ; Metagenomics/history/*methods ; }, abstract = {Bacteriophages are ubiquitous and numerous parasites of bacteria and play a critical evolutionary role in virtually every ecosystem, yet our understanding of the extent of the diversity and role of phages remains inadequate for many ecological niches, particularly in cases in which the host is unculturable. During the past 15 years, the emergence of the field of viral metagenomics has drastically enhanced our ability to analyse the so-called viral 'dark matter' of the biosphere. Here, we review the evolution of viral metagenomic methodologies, as well as providing an overview of some of the most significant applications and findings in this field of research.}, }
@article {pmid28531294, year = {2017}, author = {Kanagawa, M and Manya, H}, title = {Tatsushi Toda and Tamao Endo win 107th Japan Academy Prize.}, journal = {Glycobiology}, volume = {27}, number = {7}, pages = {599-600}, doi = {10.1093/glycob/cwx040}, pmid = {28531294}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; }, }
@article {pmid28520471, year = {2017}, author = {Pigeard-Micault, N and Gachelin, G}, title = {.}, journal = {Canadian bulletin of medical history = Bulletin canadien d'histoire de la medecine}, volume = {34}, number = {2}, pages = {465-495}, doi = {10.3138/cbmh.193-012017}, pmid = {28520471}, issn = {0823-2105}, mesh = {Genetic Predisposition to Disease ; Genetics/history ; History, 20th Century ; Neoplasms/*genetics ; }, }
@article {pmid28513845, year = {2017}, author = {Sancar, A}, title = {Claud S. Rupert (1919-2017): The Father of DNA Repair.}, journal = {Photochemistry and photobiology}, volume = {93}, number = {4}, pages = {1133-1134}, doi = {10.1111/php.12792}, pmid = {28513845}, issn = {1751-1097}, support = {R35 GM118102/GM/NIGMS NIH HHS/United States ; }, mesh = {*DNA Repair ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, }
@article {pmid28508484, year = {2017}, author = {Simianer, H and Rosa, GJM and Mäki-Tanila, A}, title = {Special Issue: Quantitative and statistical genetics-papers in honour of Daniel Gianola.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {134}, number = {3}, pages = {173-174}, doi = {10.1111/jbg.12279}, pmid = {28508484}, issn = {1439-0388}, mesh = {Animals ; Breeding ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Genetic ; Models, Statistical ; United States ; }, }
@article {pmid28501586, year = {2017}, author = {Cramer, P}, title = {Structural Molecular Biology-A Personal Reflection on the Occasion of John Kendrew's 100th Birthday.}, journal = {Journal of molecular biology}, volume = {429}, number = {17}, pages = {2603-2610}, doi = {10.1016/j.jmb.2017.05.007}, pmid = {28501586}, issn = {1089-8638}, mesh = {Cryoelectron Microscopy/history/*methods ; Crystallography, X-Ray/history/*methods ; History, 20th Century ; History, 21st Century ; Molecular Biology/history/*methods ; Protein Conformation ; RNA Polymerase II/*chemistry/*metabolism ; *Transcription, Genetic ; }, abstract = {Here, I discuss the development and future of structural molecular biology, concentrating on the eukaryotic transcription machinery and reflecting on John Kendrew's legacy from a personal perspective.}, }
@article {pmid28497705, year = {2017}, author = {Santesmases, MJ}, title = {Circulating biomedical images: Bodies and chromosomes in the post-eugenic era.}, journal = {History of science}, volume = {55}, number = {4}, pages = {395-430}, doi = {10.1177/0073275317701145}, pmid = {28497705}, issn = {0073-2753}, mesh = {Chromosomes ; *Cytogenetics/history ; *Eugenics ; Female ; Genetics, Medical ; *Heredity ; History, 20th Century ; Humans ; Pregnancy ; Pregnant Women ; *Social Conditions ; }, abstract = {This essay presents the early days of human cytogenetics, from the late 1950s until the mid 1970s, as a historical series of images. I propose a chronology moving from photographs of bodies to chromosome sets, to be joined by ultrasound images, which provided a return to bodies, by then focused on the unborn. Images carried ontological significance and, as I will argue, are principal characters in the history of human cytogenetics. Inspired by the historiography of heredity and genetics, studies on visual cultures, the conceptualization of circulation, and the sociology of pregnancy, I suggest that cytogenetics, through its focus on pregnancy, pregnant women, and their offspring, found strategic living materials that stabilized human chromosome studies as a biomedical, post-eugenics practice. The historicity of each path displays a wide circulation of objects, tools, and methods that condensed on images that shared in the centuries-old visual expertise that medicine and botany had manufactured.}, }
@article {pmid28495283, year = {2017}, author = {Virasami, A and Farndon, SJ and McDermott, U and Sebire, N and Behjati, S}, title = {Molecular diagnoses of century-old childhood tumours.}, journal = {The Lancet. Oncology}, volume = {18}, number = {5}, pages = {e237}, doi = {10.1016/S1470-2045(17)30226-7}, pmid = {28495283}, issn = {1474-5488}, mesh = {Biomarkers, Tumor/*genetics/history ; Biopsy ; DNA Mutational Analysis ; High-Throughput Nucleotide Sequencing ; History, 20th Century ; *Hospitals, Pediatric/history ; Humans ; London ; *Mutation ; Neoplasms/*genetics/history/pathology ; Paraffin Embedding ; Pathology, Molecular/history/*methods ; Tissue Fixation ; }, }
@article {pmid28493906, year = {2017}, author = {Vahia, MN and Yadav, N and Ladiwala, U and Mathur, D}, title = {A diffusion based study of population dynamics: Prehistoric migrations into South Asia.}, journal = {PloS one}, volume = {12}, number = {5}, pages = {e0176985}, pmid = {28493906}, issn = {1932-6203}, mesh = {Asia ; Asian Continental Ancestry Group/genetics/history ; Computer Simulation ; Emigration and Immigration/history ; Genetics, Population/history ; History, Ancient ; Humans ; Population Dynamics/*history ; }, abstract = {A diffusion equation has been used to study migration of early humans into the South Asian subcontinent. The diffusion equation is tempered by a set of parameters that account for geographical features like proximity to water resources, altitude, and flatness of land. The ensuing diffusion of populations is followed in time-dependent computer simulations carried out over a period of 10,000 YBP. The geographical parameters are determined from readily-available satellite data. The results of our computer simulations are compared to recent genetic data so as to better correlate the migratory patterns of various populations; they suggest that the initial populations started to coalesce around 4,000 YBP before the commencement of a period of relative geographical isolation of each population group. The period during which coalescence of populations occurred appears consistent with the established timeline associated with the Harappan civilization and also, with genetic admixing that recent genetic mapping data reveal. Our results may contribute to providing a timeline for the movement of prehistoric people. Most significantly, our results appear to suggest that the Ancestral Austro-Asiatic population entered the subcontinent through an easterly direction, potentially resolving a hitherto-contentious issue.}, }
@article {pmid28476859, year = {2017}, author = {Goldman, IL}, title = {William Friedman, Geneticist Turned Cryptographer.}, journal = {Genetics}, volume = {206}, number = {1}, pages = {1-8}, pmid = {28476859}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, abstract = {William Friedman (1891-1969), trained as a plant geneticist at Cornell University, was employed at Riverbank Laboratories by the eccentric millionaire George Fabyan to work on wheat breeding. Friedman, however, soon became intrigued by and started working on a pet project of Fabyan's involving the conjecture that Francis Bacon, a polymath known for the study of ciphers, was the real author of Shakespeare's plays. Thus, beginning in ∼1916, Friedman turned his attention to the so called "Baconian cipher," and developed decryption techniques that bore similarity to approaches for solving problems in population genetics. His most significant, indeed pathbreaking, work used ideas from genetics and statistics, focusing on analysis of the frequencies of letters in language use. Although he had transitioned from being a geneticist to a cryptographer, his earlier work had resonance in his later pursuits. He soon began working directly for the United States government and produced solutions used to solve complex military ciphers, in particular to break the Japanese Purple code during World War II. Another important legacy of his work was the establishment of the Signal Intelligence Service and eventually the National Security Agency.}, }
@article {pmid28476632, year = {2017}, author = {Clarage, J}, title = {The fuzzy image.}, journal = {Journal of structural biology}, volume = {200}, number = {3}, pages = {204-212}, doi = {10.1016/j.jsb.2017.04.010}, pmid = {28476632}, issn = {1095-8657}, mesh = {History, 20th Century ; Humans ; Molecular Biology/*history ; Paintings ; Proteins/chemistry ; Viruses/*chemistry/metabolism ; X-Ray Diffraction ; }, abstract = {This article celebrates the variety of Don Caspar's research interests, with particular focus on those scientific investigations beyond the structural biology of viruses for which he is often associated. These lesser known, seemingly backwater projects, allow us to build up a portrait, in both word and image, of this prolific and creative scientist. Exploration of his ideas will reveal a close connection to other structural thinkers and artists throughout history, most notably the 17th century astronomer Johannes Kepler.}, }
@article {pmid28470422, year = {2017}, author = {Luft, FC}, title = {Berlin Wild-and the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch.}, journal = {Journal of molecular medicine (Berlin, Germany)}, volume = {95}, number = {6}, pages = {567-570}, pmid = {28470422}, issn = {1432-1440}, mesh = {Academies and Institutes/*history ; Berlin ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid28460027, year = {2017}, author = {Cooper, TG}, title = {Editorial: Saccharomyces riding the waves of technology and transition.}, journal = {FEMS yeast research}, volume = {17}, number = {4}, pages = {}, pmid = {28460027}, issn = {1567-1364}, support = {R01 GM035642/GM/NIGMS NIH HHS/United States ; }, mesh = {Genetics, Microbial/history/*methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history/*methods/trends ; Mycology/history/*methods/trends ; Saccharomyces/*genetics/*physiology ; }, }
@article {pmid28439000, year = {2017}, author = {Cooper, L}, title = {Profile of Ian A. Wilson.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {114}, number = {19}, pages = {4848-4850}, pmid = {28439000}, issn = {1091-6490}, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; }, }
@article {pmid28433537, year = {2017}, author = {Wassarman, PM}, title = {A Personal Perspective: My Four Encounters with John Kendrew.}, journal = {Journal of molecular biology}, volume = {429}, number = {17}, pages = {2594-2600}, doi = {10.1016/j.jmb.2017.04.010}, pmid = {28433537}, issn = {1089-8638}, mesh = {Crystallography, X-Ray/history/*methods ; History, 20th Century ; Molecular Biology/history/*methods ; Proteins/*chemistry ; }, abstract = {By celebrating the 100th anniversary of John Kendrew's birth in 1917, the Journal of Molecular Biology recognizes his seminal contributions to science in general and structural biology in particular. John was first to use X-ray diffraction to solve the 3-dimensional structure of a protein, sperm-whale myoglobin, worthy of a Nobel Prize in Chemistry in 1962. John was the Founder and first Editor-in-Chief of the Journal of Molecular Biology, Deputy Chairman of the Laboratory of Molecular Biology and Head of its Division of Structural Studies, a Founder of the European Molecular Biology Organization, first Director-General of the European Molecular Biology Laboratory, and 33rd President of St. John's College, Oxford. In this personal perspective I relate how I came to know John as his postdoctoral fellow at the Laboratory of Molecular Biology in 1967 and as his biographer 45 years later.}, }
@article {pmid28418759, year = {2017}, author = {Chen, SL}, title = {Virulence profile: Swaine L. Chen.}, journal = {Virulence}, volume = {8}, number = {5}, pages = {494-496}, doi = {10.1080/21505594.2017.1317998}, pmid = {28418759}, issn = {2150-5608}, mesh = {*Computational Biology/history ; *Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; *Synthetic Biology/history ; Urinary Tract Infections/genetics/microbiology ; Uropathogenic Escherichia coli ; }, }
@article {pmid28416695, year = {2017}, author = {Reed, JC and Druker, BJ}, title = {Peter C. Nowell (1928-2016).}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {114}, number = {18}, pages = {4569-4570}, pmid = {28416695}, issn = {1091-6490}, mesh = {Animals ; Cytogenetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/*genetics/*history ; Portraits as Topic ; }, }
@article {pmid28397645, year = {2017}, author = {Anaya-Muñoz, VH and García-Deister, V and Suárez-Díaz, E}, title = {Flattening and Unpacking Human Genetic Variation in Mexico, Postwar to Present.}, journal = {Science in context}, volume = {30}, number = {1}, pages = {89-112}, doi = {10.1017/S0269889717000047}, pmid = {28397645}, issn = {0269-8897}, mesh = {*Genetic Variation ; Genetics, Population/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Mexico ; }, abstract = {Argument This paper analyzes the research strategies of three different cases in the study of human genetics in Mexico - the work of Rubén Lisker in the 1960s, INMEGEN's mapping of Mexican genomic diversity between 2004 and 2009, and the analysis of Native American variation by Andrés Moreno and his colleagues in contemporary research. We make a distinction between an approach that incorporates multiple disciplinary resources into sampling design and interpretation (unpacking), from one that privileges pragmatic considerations over more robust multidisciplinary analysis (flattening). These choices have consequences for social, demographic, and biomedical practices, and also for accounts of genetic variation in human populations. While the former strategy unpacks fine-grained genetic variation - favoring precision and realism, the latter tends to flatten individual differences and historical depth in lieu of generalization.}, }
@article {pmid28397400, year = {2017}, author = {Suzuki, TK}, title = {On the Origin of Complex Adaptive Traits: Progress Since the Darwin Versus Mivart Debate.}, journal = {Journal of experimental zoology. Part B, Molecular and developmental evolution}, volume = {328}, number = {4}, pages = {304-320}, doi = {10.1002/jez.b.22740}, pmid = {28397400}, issn = {1552-5015}, mesh = {Adaptation, Physiological/*genetics ; Animals ; *Biological Evolution ; Genetics/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Models, Biological ; Models, Genetic ; Morphogenesis ; Selection, Genetic/*physiology ; }, abstract = {The evolutionary origin of complex adaptive traits has been a controversial topic in the history of evolutionary biology. Although Darwin argued for the gradual origins of complex adaptive traits within the theory of natural selection, Mivart insisted that natural selection could not account for the incipient stages of complex traits. The debate starting from Darwin and Mivart eventually engendered two opposite views: gradualism and saltationism. Although this has been a long-standing debate, the issue remains unresolved. However, recent studies have interrogated classic examples of complex traits, such as the asymmetrical eyes of flatfishes and leaf mimicry of butterfly wings, whose origins were debated by Darwin and Mivart. Here, I review recent findings as a starting point to provide a modern picture of the evolution of complex adaptive traits. First, I summarize the empirical evidence that unveils the evolutionary steps toward complex traits. I then argue that the evolution of complex traits could be understood within the concept of "reducible complexity." Through these discussions, I propose a conceptual framework for the formation of complex traits, named as reducible-composable multicomponent systems, that satisfy two major characteristics: reducibility into a sum of subcomponents and composability to construct traits from various additional and combinatorial arrangements of the subcomponents. This conceptual framework provides an analytical foundation for exploring evolutionary pathways to build up complex traits. This review provides certain essential avenues for deciphering the origin of complex adaptive traits.}, }
@article {pmid28371429, year = {2017}, author = {Carey, JC and Clark, EB}, title = {Introduction Special Series: Professor John M. Opitz, Founding Editor of AJMG, Awarded the Order of Merit from the Federal Republic of Germany.}, journal = {American journal of medical genetics. Part A}, volume = {173}, number = {5}, pages = {1143-1144}, doi = {10.1002/ajmg.a.38226}, pmid = {28371429}, issn = {1552-4833}, mesh = {Awards and Prizes ; Genetics, Medical/*history ; Germany ; History, 21st Century ; Humans ; *Peer Review, Research ; }, }
@article {pmid28369360, year = {2016}, author = {Reardon, J and Ankeny, RA and Bangham, J and W Darling, K and Hilgartner, S and Jones, KM and Shapiro, B and Stevens, H and , }, title = {Bermuda 2.0: reflections from Santa Cruz.}, journal = {GigaScience}, volume = {5}, number = {1}, pages = {1-4}, pmid = {28369360}, issn = {2047-217X}, support = {200299/Z/15/Z/WT_/Wellcome Trust/United Kingdom ; }, mesh = {Bermuda ; *Genome, Human ; Genomics/*history ; History, 20th Century ; Humans ; *Information Dissemination ; }, abstract = {In February 1996, the genome community met in Bermuda to formulate principles for circulating genomic data. Although it is now 20 years since the Bermuda Principles were formulated, they continue to play a central role in shaping genomic and data-sharing practices. However, since 1996, "openness" has become an increasingly complex issue. This commentary seeks to articulate three core challenges data-sharing faces today.}, }
@article {pmid28360126, year = {2017}, author = {Portin, P and Wilkins, A}, title = {The Evolving Definition of the Term "Gene".}, journal = {Genetics}, volume = {205}, number = {4}, pages = {1353-1364}, pmid = {28360126}, issn = {1943-2631}, mesh = {*Genes ; Genetic Techniques/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; *Terminology as Topic ; }, abstract = {This paper presents a history of the changing meanings of the term "gene," over more than a century, and a discussion of why this word, so crucial to genetics, needs redefinition today. In this account, the first two phases of 20th century genetics are designated the "classical" and the "neoclassical" periods, and the current molecular-genetic era the "modern period." While the first two stages generated increasing clarity about the nature of the gene, the present period features complexity and confusion. Initially, the term "gene" was coined to denote an abstract "unit of inheritance," to which no specific material attributes were assigned. As the classical and neoclassical periods unfolded, the term became more concrete, first as a dimensionless point on a chromosome, then as a linear segment within a chromosome, and finally as a linear segment in the DNA molecule that encodes a polypeptide chain. This last definition, from the early 1960s, remains the one employed today, but developments since the 1970s have undermined its generality. Indeed, they raise questions about both the utility of the concept of a basic "unit of inheritance" and the long implicit belief that genes are autonomous agents. Here, we review findings that have made the classic molecular definition obsolete and propose a new one based on contemporary knowledge.}, }
@article {pmid28352972, year = {2017}, author = {}, title = {Gerald E. McClearn 1927-2017: A Founding Father of Behavioral Genetics.}, journal = {Behavior genetics}, volume = {47}, number = {3}, pages = {263-264}, doi = {10.1007/s10519-017-9846-2}, pmid = {28352972}, issn = {1573-3297}, mesh = {Genetics, Behavioral/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28316285, year = {2017}, author = {Stamhuis, IH and Vogt, AB}, title = {Discipline building in Germany: women and genetics at the Berlin Institute for Heredity Research.}, journal = {British journal for the history of science}, volume = {50}, number = {2}, pages = {267-295}, doi = {10.1017/S0007087417000048}, pmid = {28316285}, issn = {1474-001X}, mesh = {Academies and Institutes/*history/organization &amp; administration ; Berlin ; Female ; Genetics/*history ; Heredity ; Historiography ; History, 20th Century ; Humans ; Research Personnel/*history ; Universities/history ; Women, Working/*history ; }, abstract = {The origin and the development of scientific disciplines has been a topic of reflection for several decades. The few extensive case studies support the thesis that scientific disciplines are not monolithic structures but can be characterized by distinct social, organizational and scientific-technical practices. Nonetheless, most disciplinary histories of genetics confine themselves largely to an uncontested account of the content of the discipline or occasionally institutional factors. Little attention is paid to the large number of researchers who, by their joint efforts, ultimately shaped the discipline. We contribute to this aspect of disciplinary historiography by discussing the role of women researchers at the Institute for Heredity Research, founded in 1914 in Berlin under the directorship of Erwin Baur, and the sister of the John Innes Institute at Cambridge. This paper investigates how and why Baur built a highly successful research programme that relied on the efforts of his female staff, whose careers, notably Elisabeth Schiemann's, are also assessed in toto. These women undertook the necessary 'technoscience' and in some cases innovative work and helped increase the prestige of the institute and its director. Together they played a pivotal role in the establishment of genetics in Germany. Without them the discipline would have developed much more slowly and along a divergent path.}, }
@article {pmid28315468, year = {2017}, author = {Lescai, F and Diderichsen, B and Van Montagu, M and Cole, J}, title = {In memory of Professor Brian Frederic Carl Clark: Contributions from friends.}, journal = {New biotechnology}, volume = {38}, number = {Pt A}, pages = {3-4}, doi = {10.1016/j.nbt.2017.02.005}, pmid = {28315468}, issn = {1876-4347}, mesh = {Advisory Committees ; Biotechnology ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, }
@article {pmid28301737, year = {2017}, author = {Hall, JG}, title = {The Clinic Is My Laboratory: Life as a Clinical Geneticist.}, journal = {Annual review of genomics and human genetics}, volume = {18}, number = {}, pages = {1-29}, doi = {10.1146/annurev-genom-091416-035213}, pmid = {28301737}, issn = {1545-293X}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, abstract = {Clinical genetics is the application of advances in genetics and medicine to real human families. It involves diagnosis, care, and counseling concerning options available to affected individuals and their family members. Advances in medicine and genetics have led to dramatic changes in the scope and responsibilities of clinical genetics. This reflection on the last 50+ years of clinical genetics comes from personal experience, with an emphasis on the important contributions that clinical geneticists have made to the understanding of disease/disorder processes and mechanisms. The genetics clinic is a research laboratory where major advances in knowledge can and have been made.}, }
@article {pmid28266130, year = {2017}, author = {Resta, RG}, title = {In Memoriam: Laurence E. Karp (1939-2016).}, journal = {American journal of medical genetics. Part A}, volume = {173}, number = {4}, pages = {1007-1008}, doi = {10.1002/ajmg.a.38133}, pmid = {28266130}, issn = {1552-4833}, mesh = {DNA Helicases/*genetics ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28257689, year = {2017}, author = {Gartler, SM}, title = {2016 Victor A. McKusick Leadership Award.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {403-405}, doi = {10.1016/j.ajhg.2017.01.010}, pmid = {28257689}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28257688, year = {2017}, author = {Jarvik, GP}, title = {2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {401-402}, pmid = {28257688}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Leadership ; }, }
@article {pmid28257687, year = {2017}, author = {Lee, B}, title = {2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {397-400}, pmid = {28257687}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetic Diseases, Inborn/genetics/*therapy ; *Genetic Therapy ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Rare Diseases/genetics/*therapy ; *Translational Medical Research ; }, }
@article {pmid28257686, year = {2017}, author = {Beaudet, AL}, title = {2016 Curt Stern Award Introduction: Brendan Lee.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {395-396}, pmid = {28257686}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28257685, year = {2017}, author = {Gusella, JF}, title = {2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {387-394}, pmid = {28257685}, issn = {1537-6605}, support = {R01 NS091161/NS/NINDS NIH HHS/United States ; R01 NS093200/NS/NINDS NIH HHS/United States ; }, mesh = {*Awards and Prizes ; Genetic Therapy/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid28257684, year = {2017}, author = {Nelson, DL}, title = {2016 William Allan Award Introduction: James Gusella.}, journal = {American journal of human genetics}, volume = {100}, number = {3}, pages = {385-386}, pmid = {28257684}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetic Research/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid28257470, year = {2017}, author = {Pollegioni, P and Woeste, K and Chiocchini, F and Del Lungo, S and Ciolfi, M and Olimpieri, I and Tortolano, V and Clark, J and Hemery, GE and Mapelli, S and Malvolti, ME}, title = {Rethinking the history of common walnut (Juglans regia L.) in Europe: Its origins and human interactions.}, journal = {PloS one}, volume = {12}, number = {3}, pages = {e0172541}, pmid = {28257470}, issn = {1932-6203}, mesh = {Asia ; Balkan Peninsula ; Europe ; Fossils ; *Genetic Variation ; Genetics, Population/history/methods ; History, Ancient ; Humans ; Juglans/*genetics/growth &amp; development ; Microsatellite Repeats/*genetics ; Pollen/genetics ; }, abstract = {Common walnut (Juglans regia L) is an economically important species cultivated worldwide for its high-quality wood and nuts. It is generally accepted that after the last glaciation J. regia survived and grew in almost completely isolated stands in Asia, and that ancient humans dispersed walnuts across Asia and into new habitats via trade and cultural expansion. The history of walnut in Europe is a matter of debate, however. In this study, we estimated the genetic diversity and structure of 91 Eurasian walnut populations using 14 neutral microsatellites. By integrating fossil pollen, cultural, and historical data with population genetics, and approximate Bayesian analysis, we reconstructed the demographic history of walnut and its routes of dispersal across Europe. The genetic data confirmed the presence of walnut in glacial refugia in the Balkans and western Europe. We conclude that human-mediated admixture between Anatolian and Balkan walnut germplasm started in the Early Bronze Age, and between western Europe and the Balkans in eastern Europe during the Roman Empire. A population size expansion and subsequent decline in northeastern and western Europe was detected in the last five centuries. The actual distribution of walnut in Europe resulted from the combined effects of expansion/contraction from multiple refugia after the Last Glacial Maximum and its human exploitation over the last 5,000 years.}, }
@article {pmid28254903, year = {2017}, author = {Greene, MI and Moore, JS}, title = {Peter C. Nowell (1928-2016).}, journal = {Science (New York, N.Y.)}, volume = {355}, number = {6328}, pages = {913}, doi = {10.1126/science.aam9738}, pmid = {28254903}, issn = {1095-9203}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/*history ; Pathology, Molecular/*history ; Philadelphia ; *Philadelphia Chromosome ; Precision Medicine/history ; }, }
@article {pmid28246089, year = {2017}, author = {Stafford, N}, title = {Herman Vanden Berghe.}, journal = {BMJ (Clinical research ed.)}, volume = {356}, number = {}, pages = {j1056}, doi = {10.1136/bmj.j1056}, pmid = {28246089}, issn = {1756-1833}, mesh = {Belgium ; Education, Medical/*history ; Genetics/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/education/*history ; }, }
@article {pmid30484615, year = {2017}, author = {Blume, YB}, title = {.}, journal = {TSitologiia i genetika}, volume = {51}, number = {2}, pages = {3-8}, pmid = {30484615}, issn = {0564-3783}, mesh = {Cell Biology/education/*history/trends ; Editorial Policies ; Genetics/education/*history/trends ; History, 20th Century ; History, 21st Century ; Humans ; *Periodicals as Topic ; Ukraine ; }, abstract = {This survey paper contains a brief analysis of publications included in current issue of scientific journal «Cytology and Genetics» dedicated to its 50th anniversary. These papers reflect scientific achievements of their authors in the field of genetics and cell biology and underine the potential of these two biological disciplines, forming «double helix» of the journal.}, }
@article {pmid28188736, year = {2017}, author = {Quinlan, RA}, title = {The eye lens - a paradigm for healthy living.}, journal = {Experimental eye research}, volume = {156}, number = {}, pages = {1-2}, doi = {10.1016/j.exer.2017.02.003}, pmid = {28188736}, issn = {1096-0007}, mesh = {History, 20th Century ; History, 21st Century ; Lens Diseases/genetics/*history/metabolism ; *Lens, Crystalline ; Molecular Biology/*history ; Ophthalmology/*history ; United States ; }, }
@article {pmid28186625, year = {2017}, author = {Crawford, MH}, title = {Obituary: Derek F. Roberts (1925-2016).}, journal = {American journal of physical anthropology}, volume = {162}, number = {4}, pages = {613-615}, doi = {10.1002/ajpa.23183}, pmid = {28186625}, issn = {1096-8644}, mesh = {Africa ; Anthropology, Physical/*history ; Genetics, Population/history ; History, 20th Century ; History, 21st Century ; Humans ; London ; Male ; Molecular Epidemiology/history ; United States ; }, }
@article {pmid28179651, year = {2017}, author = {Kucherlapati, R}, title = {Oliver Smithies (1925-2017).}, journal = {Nature}, volume = {542}, number = {7640}, pages = {166}, doi = {10.1038/542166a}, pmid = {28179651}, issn = {1476-4687}, mesh = {Anemia, Sickle Cell/genetics/therapy ; Animals ; Cystic Fibrosis ; Disease Models, Animal ; Genetic Therapy/history/methods ; Haptoglobins/chemistry ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Molecular Biology/*history ; Mouse Embryonic Stem Cells/metabolism ; Mutagenesis, Site-Directed/*history/methods ; Nobel Prize ; United Kingdom ; United States ; }, }
@article {pmid28177933, year = {2017}, author = {Thirumalai, D}, title = {Theory and computations in biology: Kamal's legacy.}, journal = {Physical biology}, volume = {14}, number = {1}, pages = {010401}, doi = {10.1088/1478-3975/aa5564}, pmid = {28177933}, issn = {1478-3975}, mesh = {Cell Biology/*history ; Computational Biology/*history ; History, 20th Century ; History, 21st Century ; Models, Theoretical ; Molecular Biology/*history ; }, }
@article {pmid28177932, year = {2017}, author = {Frauenfelder, H}, title = {Physical concepts in biology-past and future.}, journal = {Physical biology}, volume = {14}, number = {1}, pages = {010402}, doi = {10.1088/1478-3975/aa559f}, pmid = {28177932}, issn = {1478-3975}, mesh = {*Cell Biology/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; Physical Phenomena ; *Physics/history ; }, }
@article {pmid28174024, year = {2017}, author = {Piatigorsky, J and Bassnett, S and McAvoy, J and Bhat, SP}, title = {David C. Beebe, 1944-2015, in memoriam.}, journal = {Experimental eye research}, volume = {156}, number = {}, pages = {3-4}, doi = {10.1016/j.exer.2017.02.002}, pmid = {28174024}, issn = {1096-0007}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Lens Diseases/genetics/*history/metabolism ; *Lens, Crystalline ; Molecular Biology/*history ; Ophthalmology/*history ; United States ; }, }
@article {pmid28168833, year = {2017}, author = {Ripperger, T and Bielack, SS and Borkhardt, A and Brecht, IB and Burkhardt, B and Calaminus, G and Debatin, KM and Deubzer, H and Dirksen, U and Eckert, C and Eggert, A and Erlacher, M and Fleischhack, G and Frühwald, MC and Gnekow, A and Goehring, G and Graf, N and Hanenberg, H and Hauer, J and Hero, B and Hettmer, S and von Hoff, K and Horstmann, M and Hoyer, J and Illig, T and Kaatsch, P and Kappler, R and Kerl, K and Klingebiel, T and Kontny, U and Kordes, U and Körholz, D and Koscielniak, E and Kramm, CM and Kuhlen, M and Kulozik, AE and Lamottke, B and Leuschner, I and Lohmann, DR and Meinhardt, A and Metzler, M and Meyer, LH and Moser, O and Nathrath, M and Niemeyer, CM and Nustede, R and Pajtler, KW and Paret, C and Rasche, M and Reinhardt, D and Rieß, O and Russo, A and Rutkowski, S and Schlegelberger, B and Schneider, D and Schneppenheim, R and Schrappe, M and Schroeder, C and von Schweinitz, D and Simon, T and Sparber-Sauer, M and Spix, C and Stanulla, M and Steinemann, D and Strahm, B and Temming, P and Thomay, K and von Bueren, AO and Vorwerk, P and Witt, O and Wlodarski, M and Wössmann, W and Zenker, M and Zimmermann, S and Pfister, SM and Kratz, CP}, title = {Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.}, journal = {American journal of medical genetics. Part A}, volume = {173}, number = {4}, pages = {1017-1037}, doi = {10.1002/ajmg.a.38142}, pmid = {28168833}, issn = {1552-4833}, mesh = {Adolescent ; Child ; Focus Groups/methods ; Gene Expression ; Genetic Counseling/ethics ; *Genetic Predisposition to Disease ; Genetic Testing/methods ; Genetics, Medical/history/instrumentation/methods ; Hematologic Neoplasms/*diagnosis/genetics/pathology ; History, 21st Century ; Humans ; *Mutation ; Neoplasm Proteins/*genetics ; Neoplasms/*diagnosis/genetics/pathology ; Societies, Medical/history ; Syndrome ; }, abstract = {Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.}, }
@article {pmid28167759, year = {2017}, author = {Tilghman, SM}, title = {Profile of Bruce M. Alberts, 2016 Lasker-Koshland Special Achievement Award in Medical Science Awardee.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {114}, number = {7}, pages = {1439-1441}, pmid = {28167759}, issn = {1091-6490}, mesh = {*Awards and Prizes ; Biochemistry/*history ; California ; DNA Replication ; Education/standards ; History, 20th Century ; History, 21st Century ; International Agencies/history ; Molecular Biology/*history ; National Academy of Sciences, U.S./history ; Political Activism ; Publishing/history ; Research Design/standards ; United States ; }, }
@article {pmid28145901, year = {2017}, author = {Neill, US}, title = {A conversation with Eric Olson.}, journal = {The Journal of clinical investigation}, volume = {127}, number = {2}, pages = {403-404}, doi = {10.1172/JCI92059}, pmid = {28145901}, issn = {1558-8238}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Stem Cells ; }, }
@article {pmid28142260, year = {2017}, author = {Hirschhorn, K and Hirschhorn, R and Hirschhorn, JN}, title = {A Conversation with Kurt and Rochelle Hirschhorn.}, journal = {Annual review of genomics and human genetics}, volume = {18}, number = {}, pages = {31-44}, doi = {10.1146/annurev-genom-080316-090927}, pmid = {28142260}, issn = {1545-293X}, mesh = {Adenosine Deaminase/deficiency ; Genetics, Medical/*history ; Glycogen Storage Disease Type II ; History, 20th Century ; History, 21st Century ; Humans ; Lysosomal Storage Diseases ; United States ; Wolf-Hirschhorn Syndrome ; }, abstract = {In this interview, Kurt and Rochelle Hirschhorn talk with their son, Joel, about their research and collaborations, the early years of medical genetics, the development of genetic counseling, the challenges of being a woman in science, and new challenges and directions for the study of human genetics.}, }
@article {pmid28133826, year = {2017}, author = {Sorensen, D and de Los Campos, G}, title = {Daniel Gianola's contributions to animal breeding and quantitative genetics, a vuelo de pájaro.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {134}, number = {3}, pages = {175-177}, doi = {10.1111/jbg.12254}, pmid = {28133826}, issn = {1439-0388}, mesh = {Animal Husbandry/methods/*trends ; Animals ; *Breeding ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Genetic ; *Models, Statistical ; United States ; Uruguay ; }, }
@article {pmid28132940, year = {2017}, author = {}, title = {Lu pour vous dans….}, journal = {Annales de biologie clinique}, volume = {75}, number = {1}, pages = {116-119}, doi = {10.1684/abc.2016.1207}, pmid = {28132940}, issn = {1950-6112}, mesh = {Antibodies, Antinuclear/analysis ; *Automation, Laboratory ; Clinical Laboratory Techniques/methods/*trends ; Disease Transmission, Infectious/prevention &amp; control ; Drug Resistance, Multiple, Bacterial ; *Fluorescent Antibody Technique/instrumentation/methods ; Hematologic Tests/methods/trends ; Hemoglobinopathies/*diagnosis ; History, 20th Century ; History, 21st Century ; Humans ; *Immunization Programs/trends ; Lymphoid Tissue/pathology ; Molecular Biology/history/trends ; Polymerase Chain Reaction/*methods/trends ; }, }
@article {pmid28128434, year = {2017}, author = {Alberca, R}, title = {[In Memoriam. Allen D. Roses (1943-2016)].}, journal = {Revista de neurologia}, volume = {64}, number = {3}, pages = {144}, pmid = {28128434}, issn = {1576-6578}, mesh = {Alzheimer Disease/genetics/history ; Genetic Predisposition to Disease ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Neurobiology/*history ; North Carolina ; }, }
@article {pmid28120781, year = {2016}, author = {, }, title = {Emil Fischer Carbohydrate Award 2017.}, journal = {Glycobiology}, volume = {26}, number = {11}, pages = {1136}, doi = {10.1093/glycob/cww103}, pmid = {28120781}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Carbohydrate Metabolism ; *Carbohydrates/chemistry ; Germany ; *Glycomics/history/organization &amp; administration ; History, 21st Century ; Humans ; Societies, Scientific ; }, }
@article {pmid28114099, year = {2016}, author = {Celniker, S}, title = {Susan Celniker: Foundational Resources To Study a Dynamic Genome.}, journal = {Genetics}, volume = {204}, number = {3}, pages = {845-848}, pmid = {28114099}, issn = {1943-2631}, support = {U01 HG004271/HG/NHGRI NIH HHS/United States ; }, mesh = {Animals ; *Awards and Prizes ; Drosophila/*genetics ; Genetics/*history ; *Genome, Insect ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, }
@article {pmid28114098, year = {2016}, author = {Weigel, D}, title = {Why I Love Genetics: Essay on Occasion of Being Awarded the GSA Medal 2016.}, journal = {Genetics}, volume = {204}, number = {3}, pages = {841-843}, pmid = {28114098}, issn = {1943-2631}, mesh = {Arabidopsis/*genetics ; *Awards and Prizes ; Flowers/*genetics ; Genetics/*history ; *Genome, Plant ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, }
@article {pmid28114096, year = {2016}, author = {Wolfner, MF and Miller, DE}, title = {Alfred Sturtevant Walks into a Bar: Gene Dosage, Gene Position, and Unequal Crossing Over in Drosophila.}, journal = {Genetics}, volume = {204}, number = {3}, pages = {833-835}, pmid = {28114096}, issn = {1943-2631}, mesh = {Animals ; *Crossing Over, Genetic ; Drosophila melanogaster/*genetics ; *Gene Dosage ; Genetics/*history ; History, 20th Century ; *Mutation ; }, }
@article {pmid28114095, year = {2016}, author = {Wright, SI}, title = {Charlesworth et al. on Background Selection and Neutral Diversity.}, journal = {Genetics}, volume = {204}, number = {3}, pages = {829-832}, pmid = {28114095}, issn = {1943-2631}, mesh = {*Genetic Variation ; Genetics/*history ; Genetics, Population ; History, 20th Century ; Models, Genetic ; Mutation Rate ; *Selection, Genetic ; }, }
@article {pmid28103217, year = {2017}, author = {Serio, TR}, title = {Susan Lindquist (1949-2016).}, journal = {Nature chemical biology}, volume = {13}, number = {2}, pages = {127}, doi = {10.1038/nchembio.2305}, pmid = {28103217}, issn = {1552-4469}, mesh = {*Cell Physiological Phenomena ; History, 20th Century ; History, 21st Century ; Molecular Biology/education/*history ; *Stress, Physiological ; }, }
@article {pmid28092810, year = {2017}, author = {Esposito, M}, title = {Expectation and futurity: The remarkable success of genetic determinism.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {62}, number = {}, pages = {1-9}, doi = {10.1016/j.shpsc.2017.01.001}, pmid = {28092810}, issn = {1879-2499}, mesh = {*Genetic Determinism ; Genetics/*history ; History, 20th Century ; Humans ; }, abstract = {Genetic determinism is nowadays largely questioned and widely criticized. However, if we look at the history of biology in the last one hundred years, we realize that genetic determinism has always been controversial. Why, then, did it acquire such relevance in the past despite facing longstanding criticism? Through the analysis of some of the ambitious expectations of future scientific applications, this article explores the possibility that part of the historical success of genetic determinism lies in the powerful rhetorical strategies that have connected the germinal matter with alluring bio-technological visions. Indeed, in drawing on the recent perspectives of "expectation studies" in science and technology, it will be shown that there has been an interesting historical relationship between reductionist notions of the gene as a hereditary unit, coded information or functional DNA segment, and startling prophecies of what controlling such an entity might achieve. It will also be suggested that the well-known promissory nature of genomics is far older than the emergence of biotechnology in the 1970s. At least from the time of the bio-utopias predicted by J.B.S. Haldane and J. S. Huxley, the gene has often been surrounded by what I call the "rhetoric of futurity": a promissory rhetoric that, despite momentous changes in the life sciences throughout the 20th century, has remained relatively consistent over time.}, }
@article {pmid28066082, year = {2016}, author = {Benz, EJ}, title = {BERNARD GREGOIRE FORGET, MD: 1939 - 2015.}, journal = {Transactions of the American Clinical and Climatological Association}, volume = {127}, number = {}, pages = {lxxxviii-xci}, pmid = {28066082}, issn = {0065-7778}, mesh = {Hematology/history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, }
@article {pmid28062605, year = {2017}, author = {Landau, M}, title = {An Interview with Robert Califf.}, journal = {Clinical chemistry}, volume = {63}, number = {1}, pages = {5-13}, doi = {10.1373/clinchem.2016.254623}, pmid = {28062605}, issn = {1530-8561}, mesh = {Big Data ; Genomics/ethics/history ; Government Regulation/history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; United States ; United States Food and Drug Administration/*history ; }, }
@article {pmid28056721, year = {2017}, author = {Salter, B and Salter, C}, title = {Controlling new knowledge: Genomic science, governance and the politics of bioinformatics.}, journal = {Social studies of science}, volume = {47}, number = {2}, pages = {263-287}, pmid = {28056721}, issn = {0306-3127}, mesh = {*Computational Biology/history ; *Genomics/history ; History, 20th Century ; History, 21st Century ; Politics ; *Public Policy ; }, abstract = {The rise of bioinformatics is a direct response to the political difficulties faced by genomics in its quest to be a new biomedical innovation, and the value of bioinformatics lies in its role as the bridge between the promise of genomics and its realization in the form of health benefits. Western scientific elites are able to use their close relationship with the state to control and facilitate the emergence of new domains compatible with the existing distribution of epistemic power - all within the embrace of public trust. The incorporation of bioinformatics as the saviour of genomics had to be integrated with the operation of two key aspects of governance in this field: the definition and ownership of the new knowledge. This was achieved mainly by the development of common standards and by the promotion of the values of communality, open access and the public ownership of data to legitimize and maintain the governance power of publicly funded genomic science. Opposition from industry advocating the private ownership of knowledge has been largely neutered through the institutions supporting the science-state concordat. However, in order for translation into health benefits to occur and public trust to be assured, genomic and clinical data have to be integrated and knowledge ownership agreed upon across the separate and distinct governance territories of scientist, clinical medicine and society. Tensions abound as science seeks ways of maintaining its control of knowledge production through the negotiation of new forms of governance with the institutions and values of clinicians and patients.}, }
@article {pmid28024971, year = {2017}, author = {Yang, H}, title = {In commemoration of completion of the genetic code, and in memory of Prof. Brian Clark.}, journal = {New biotechnology}, volume = {38}, number = {Pt A}, pages = {5-6}, doi = {10.1016/j.nbt.2016.12.004}, pmid = {28024971}, issn = {1876-4347}, mesh = {*Genetic Code ; Genetics/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {While we celebrate the 20th anniversary of the complete decoding of the genetic code, we should also commemorate Prof. Brian Clark for his remarkable contributions to this historic landmark in life sciences, as well as to the global collaboration on sciences. As an international citizen and a great scientist, Prof. Brian Clark will live for ever in the hearts of all his friends and students.}, }
@article {pmid27997830, year = {2016}, author = {Boomsma, JJ}, title = {Fifty years of illumination about the natural levels of adaptation.}, journal = {Current biology : CB}, volume = {26}, number = {24}, pages = {R1250-R1255}, doi = {10.1016/j.cub.2016.11.034}, pmid = {27997830}, issn = {1879-0445}, mesh = {Adaptation, Physiological/*genetics ; Animals ; *Biological Evolution ; Epigenomics/history ; History, 20th Century ; Medicine in Literature/history ; Models, Biological ; Selection, Genetic ; }, abstract = {A visionary Darwinian ahead of his time, George C. Williams developed in his 1966 book Adaptation and Natural Selection the essentials of a unifying theory of adaptation that remains robust today and has inspired immense progress in understanding how natural selection works.}, }
@article {pmid27983756, year = {2017}, author = {Printz, C}, title = {First person: Margaret Spitz, MD, MPH.}, journal = {Cancer}, volume = {123}, number = {1}, pages = {9-10}, doi = {10.1002/cncr.30464}, pmid = {27983756}, issn = {1097-0142}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Epidemiology/*history ; South Africa ; Texas ; }, }
@article {pmid27956630, year = {2016}, author = {Azar, B}, title = {Profile of Harris A. Lewin.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {51}, pages = {14468-14470}, pmid = {27956630}, issn = {1091-6490}, mesh = {Animals ; Biological Evolution ; Biology/*history ; Genetics/*history ; Genomics ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27942909, year = {2016}, author = {Mendelsohn, E}, title = {Garland Allen: An Appreciation.}, journal = {Journal of the history of biology}, volume = {49}, number = {4}, pages = {583-586}, pmid = {27942909}, issn = {1573-0387}, mesh = {Biology/education/*history ; Communism/history ; Genetics/history ; History, 20th Century ; Textbooks as Topic/history ; United States ; }, }
@article {pmid27927907, year = {2016}, author = {Orias, E and Frankel, J}, title = {In Memoriam: David L. Nanney (1925-2016): Tetrahymena Genetics Founder and Epigenetics Champion.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1633-1634}, pmid = {27927907}, issn = {1943-2631}, mesh = {Cilia/*genetics ; Epigenomics/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Tetrahymena/*genetics ; United States ; }, }
@article {pmid27927900, year = {2016}, author = {Kleckner, N}, title = {Questions and Assays.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1343-1349}, pmid = {27927900}, issn = {1943-2631}, support = {R01 GM025326/GM/NIGMS NIH HHS/United States ; R01 GM044794/GM/NIGMS NIH HHS/United States ; R37 GM025326/GM/NIGMS NIH HHS/United States ; }, mesh = {Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {The Thomas Hunt Morgan Medal is awarded to an individual Genetics Society of America member for lifetime achievement in the field of genetics. It recognizes the full body of work of an exceptional geneticist. The 2016 recipient is Nancy Kleckner, who has made many significant contributions to our understanding of chromosomes and the mechanisms of inheritance. Kleckner has made seminal achievements in several different research areas, including bacterial transposition, chromosome organization, and meiosis. She has repeatedly combined traditional genetic approaches with molecular biology, microscopy, physics, and modeling-unprecedented applications of these methods at the time, but which have now become commonplace. Indeed, she is widely recognized as one of the leaders in bringing meiosis research into the modern era. Notably, her laboratory played a key role in elucidating the mechanism that initiates meiotic recombination, has helped to decipher the "strand gymnastics" of recombination, and is beginning to provide insight into the enigmatic phenomenon of crossover interference.}, }
@article {pmid27927899, year = {2016}, author = {Telis, N and Lehmann, BV and Feldman, MW and Pritchard, JK}, title = {A Bibliometric History of the Journal GENETICS.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1337-1342}, pmid = {27927899}, issn = {1943-2631}, support = {T15 LM007033/LM/NLM NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {*Bibliometrics ; Genetics/*history/statistics &amp; numerical data/trends ; History, 20th Century ; History, 21st Century ; Periodicals as Topic/*history/statistics &amp; numerical data/trends ; }, }
@article {pmid27927898, year = {2016}, author = {van Dijk, PJ and Ellis, TH}, title = {The Full Breadth of Mendel's Genetics.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1327-1336}, pmid = {27927898}, issn = {1943-2631}, mesh = {Correspondence as Topic ; Genetics/*history ; History, 19th Century ; }, abstract = {Gregor Mendel's "Experiments on Plant Hybrids" (1865/1866), published 150 years ago, is without doubt one of the most brilliant works in biology. Curiously, Mendel's later studies on Hieracium (hawkweed) are usually seen as a frustrating failure, because it is assumed that they were intended to confirm the segregation ratios he found in Pisum Had this been his intention, such a confirmation would have failed, since, unknown to Mendel, Hieracium species mostly reproduce by means of clonal seeds (apomixis). Here we show that this assumption arises from a misunderstanding that could be explained by a missing page in Mendel's first letter to Carl Nägeli. Mendel's writings clearly indicate his interest in "constant hybrids," hybrids which do not segregate, and which were "essentially different" from "variable hybrids" such as in Pisum After the Pisum studies, Mendel worked mainly on Hieracium for 7 years where he found constant hybrids and some great surprises. He also continued to explore variable hybrids; both variable and constant hybrids were of interest to Mendel with respect to inheritance and to species evolution. Mendel considered that their similarities and differences might provide deep insights and that their differing behaviors were "individual manifestations of a higher more fundamental law."}, }
@article {pmid27927897, year = {2016}, author = {Murray, A}, title = {Paul Nurse and Pierre Thuriaux on wee Mutants and Cell Cycle Control.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1325-1326}, pmid = {27927897}, issn = {1943-2631}, mesh = {Cell Cycle/*genetics ; Genetics/*history ; History, 20th Century ; *Mutation ; Schizosaccharomyces/*genetics ; }, }
@article {pmid27927896, year = {2016}, author = {Turelli, M}, title = {Edward East on the Mendelian Basis of Quantitative Trait Variation.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1321-1323}, pmid = {27927896}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; Quantitative Trait Loci/*genetics ; Tobacco/*genetics ; }, }
@article {pmid27913843, year = {2016}, author = {Suárez-Díaz, E}, title = {Molecular Evolution in Historical Perspective.}, journal = {Journal of molecular evolution}, volume = {83}, number = {5-6}, pages = {204-213}, pmid = {27913843}, issn = {1432-1432}, mesh = {Animals ; Biological Evolution ; *Evolution, Molecular ; History, 19th Century ; History, 20th Century ; Humans ; Molecular Biology/history ; Proteins ; Sequence Analysis, DNA ; Sequence Analysis, Protein ; }, abstract = {In the 1960s, advances in protein chemistry and molecular genetics provided new means for the study of biological evolution. Amino acid sequencing, nucleic acid hybridization, zone gel electrophoresis, and immunochemistry were some of the experimental techniques that brought about new perspectives to the study of the patterns and mechanisms of evolution. New concepts, such as the molecular evolutionary clock, and the discovery of unexpected molecular phenomena, like the presence of repetitive sequences in eukaryotic genomes, eventually led to the realization that evolution might occur at a different pace at the organismic and the molecular levels, and according to different mechanisms. These developments sparked important debates between defendants of the molecular and organismic approaches. The most vocal confrontations focused on the relation between primates and humans, and the neutral theory of molecular evolution. By the 1980s and 1990s, the construction of large protein and DNA sequences databases, and the development of computer-based statistical tools, facilitated the coming together of molecular and evolutionary biology. Although in its contemporary form the field of molecular evolution can be traced back to the last five decades, the field has deep roots in twentieth century experimental life sciences. For historians of science, the origins and consolidation of molecular evolution provide a privileged field for the study of scientific debates, the relation between technological advances and scientific knowledge, and the connection between science and broader social concerns.}, }
@article {pmid27912050, year = {2016}, author = {Lawrence, PA}, title = {Francis Crick: A Singular Approach to Scientific Discovery.}, journal = {Cell}, volume = {167}, number = {6}, pages = {1436-1439}, doi = {10.1016/j.cell.2016.11.008}, pmid = {27912050}, issn = {1097-4172}, mesh = {Animals ; Caenorhabditis elegans ; Codon ; DNA/*chemistry ; Developmental Biology/history ; England ; Genetics/*history ; History, 20th Century ; Molecular Biology/*history ; Research ; }, abstract = {Francis' office window (at the Salk) commanded a panorama of the Pacific. "This grand natural scene was a physical correlate of Francis's intellectual world: wide-ranging, brilliantly lit, a little overawing, but also immensely inviting and above all an exciting place to be." (Mitchison, 2004).}, }
@article {pmid27910006, year = {2016}, author = {Coco, E}, title = {William D. Hamilton's Brazilian lectures and his unpublished model regarding Wynne-Edwards's idea of natural selection. With a note on 'pluralism' and different philosophical approaches to evolution.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {24}, doi = {10.1007/s40656-016-0125-y}, pmid = {27910006}, issn = {0391-9714}, mesh = {Animals ; *Biological Evolution ; Brazil ; England ; *Genetic Variation ; Genetics, Population/*history ; History, 20th Century ; Manuscripts as Topic ; *Selection, Genetic ; *Social Behavior ; }, abstract = {In 1975, the English evolutionist William Donald Hamilton (1936-2000) held in Brazil a series of lectures entitled "Population genetics and social behaviour". The unpublished notes of these conferences-written by Hamilton and recently discovered at the British Library-offer an opportunity to reflect on some of the author's ideas about evolution. The year of the conference is particularly significant, as it took place shortly after the applications of the Price equation with which Hamilton was able to build a model that included several levels of selection. In this paper I mainly analyse the inaugural lecture in which Hamilton proposes a simple model to disprove the hypothesis supported by the British zoologist C. Vero Wynne-Edwards (1906-1997) regarding mechanisms to prevent "over-exploitation of the food supply" in "the interests of the survival of the group". The document presented here is of great historical interest. Not only because manuscript offers a model that-since it was intended for teaching purposes-had never before appeared in the published version, but also because of the general index of the lectures that accompanies it. The latter allows us to make some hypothetical considerations on the relationship and differences between kin-selection, group-selection and inclusive fitness that Hamilton wanted to present to the attentive, well-prepared audience of the foreign university that had invited him.}, }
@article {pmid27907853, year = {2017}, author = {Ishida, Y}, title = {Sewall Wright, shifting balance theory, and the hardening of the modern synthesis.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {61}, number = {}, pages = {1-10}, doi = {10.1016/j.shpsc.2016.11.001}, pmid = {27907853}, issn = {1879-2499}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; Models, Genetic ; *Selection, Genetic ; }, abstract = {The period between the 1940s and 1960s saw the hardening of the modern synthesis in evolutionary biology. Gould and Provine argue that Wright's shifting balance theory of evolution hardened during this period. But their account does not do justice to Wright, who always regarded selection as acting together with drift. This paper presents a more adequate account of the development of Wright's shifting balance theory, paying particular attention to his application of the theory to the geographical distribution of flower color dimorphism in Linanthus parryae. The account shows that even in the heyday of the hardened synthesis, the balance or interaction of evolutionary factors, such as drift, selection, and migration, occupied pride of place in Wright's theory, and that between the 1940s and 1970s, Wright developed the theory of isolation by distance to quantitatively represent the structure of the Linanthus population, which he argued had the kind of structure posited by his shifting balance theory. In the end, Wright arrived at a sophisticated description of the structure of the Linanthus population, where the interaction between drift and selection varied spatially.}, }
@article {pmid27906689, year = {2016}, author = {Neill, US}, title = {A conversation with Bruce Alberts.}, journal = {The Journal of clinical investigation}, volume = {126}, number = {12}, pages = {4391-4392}, doi = {10.1172/JCI91072}, pmid = {27906689}, issn = {1558-8238}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Portraits as Topic ; }, }
@article {pmid27897078, year = {2016}, author = {Ueda, A and Patience, T and Wu, CF}, title = {Photo gallery for the special issue in honor of Barry Ganetzky.}, journal = {Journal of neurogenetics}, volume = {30}, number = {3-4}, pages = {223-236}, doi = {10.1080/01677063.2016.1260252}, pmid = {27897078}, issn = {1563-5260}, mesh = {Animals ; Drosophila/genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; }, }
@article {pmid27875249, year = {2016}, author = {Maartens, A}, title = {An interview with Kathryn Anderson.}, journal = {Development (Cambridge, England)}, volume = {143}, number = {22}, pages = {4095-4096}, doi = {10.1242/dev.145706}, pmid = {27875249}, issn = {1477-9129}, mesh = {Animals ; Body Patterning/genetics ; *Developmental Biology/history ; Drosophila/embryology/genetics ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; United States ; }, abstract = {Kathryn Anderson is Professor and Chair of the Developmental Biology Program at the Sloan Kettering Institute in New York. Her lab investigates the genetic networks underlying the patterning and morphogenesis of the early mouse embryo. We caught up with Kathryn at the 2016 Society for Developmental Biology - International Society of Differentiation joint meeting in Boston, where she was awarded the Edwin G. Conklin medal.}, }
@article {pmid27872276, year = {2016}, author = {Viegas, J}, title = {Profile of Peter A. Jones.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {48}, pages = {13546-13548}, pmid = {27872276}, issn = {1091-6490}, mesh = {Epigenomics/*history ; History, 21st Century ; Humans ; Male ; MicroRNAs/genetics ; Neoplasms/genetics ; }, }
@article {pmid27872249, year = {2016}, author = {O'Donnell, MA}, title = {Job Dekker: Hitting the scientific hi-Cs.}, journal = {The Journal of cell biology}, volume = {215}, number = {4}, pages = {434-435}, pmid = {27872249}, issn = {1540-8140}, mesh = {Biomedical Research/*history ; Career Choice ; *Chromosomes, Human ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Leadership ; }, }
@article {pmid27868460, year = {2016}, author = {O'Connor-Giles, KM and Zhang, B and Simpson, JH and Wu, CF}, title = {The neurogenetics of Drosophila: the Ganetzky legacy.}, journal = {Journal of neurogenetics}, volume = {30}, number = {3-4}, pages = {149-151}, doi = {10.1080/01677063.2016.1254629}, pmid = {27868460}, issn = {1563-5260}, mesh = {Animals ; Drosophila/*genetics ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; United States ; }, }
@article {pmid27868377, year = {2016}, author = {Maxson, SC}, title = {Benson Earl Ginsburg (1918-2016): a pioneer in behavior genetics.}, journal = {Genes, brain, and behavior}, volume = {15}, number = {8}, pages = {777-778}, doi = {10.1111/gbb.12350}, pmid = {27868377}, issn = {1601-183X}, mesh = {*Behavior ; Biological Evolution ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Psychology/*history ; }, }
@article {pmid27854053, year = {2016}, author = {Stotz, K and Griffiths, P}, title = {Epigenetics: ambiguities and implications.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {22}, doi = {10.1007/s40656-016-0121-2}, pmid = {27854053}, issn = {0391-9714}, mesh = {Animals ; *Biological Evolution ; *Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; History, 21st Century ; Plants/genetics ; }, abstract = {Everyone has heard of 'epigenetics', but the term means different things to different researchers. Four important contemporary meanings are outlined in this paper. Epigenetics in its various senses has implications for development, heredity, and evolution, and also for medicine. Concerning development, it cements the vision of a reactive genome strongly coupled to its environment. Concerning heredity, both narrowly epigenetic and broader 'exogenetic' systems of inheritance play important roles in the construction of phenotypes. A thoroughly epigenetic model of development and evolution was Waddington's aim when he introduced the term 'epigenetics' in the 1940s, but it has taken the modern development of molecular epigenetics to realize this aim. In the final sections of the paper we briefly outline some further implications of epigenetics for medicine and for the nature/nurture debate.}, }
@article {pmid27848075, year = {2017}, author = {Harper, PS}, title = {Recorded interviews with human and medical geneticists.}, journal = {Human genetics}, volume = {136}, number = {2}, pages = {149-164}, pmid = {27848075}, issn = {1432-1203}, mesh = {Databases, Genetic ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Interviews as Topic/*methods ; Phylogeography ; }, abstract = {A series of 100 recorded interviews with human and medical geneticists has been carried out and some general results are reported here. Twenty countries across the world are represented, mostly European, with a particular emphasis on the United Kingdom. A priority was given to older workers, many of whom were key founders of human genetics in their own countries and areas of work, and over 20 of whom are now no longer living. The interviews also give valuable information on the previous generation of workers, as teachers and mentors of the interviewees, thus extending the coverage of human genetics back to the 1930s or even earlier. A number of prominent themes emerge from the interview series; notably the beginnings of human cytogenetics from the late 1950s, the development of medical genetics research and its clinical applications in the 1960s and 1970s, and more recently the beginnings and rapid growth of human molecular genetics. The interviews provide vivid personal portraits of those involved, and also show the effects of social and political issues, notably those arising from World War 2 and its aftermath, which affected not only the individuals involved but also broader developments in human genetics, such as research related to risks of irradiation. While this series has made a start in the oral history of this important field, extension and further development of the work is urgently needed to give a fuller picture of how human genetics has developed.}, }
@article {pmid27844115, year = {2016}, author = {Vollmann, J and Buerstmayr, H}, title = {From phenotype to genotype: celebrating 150 years of Mendelian genetics in plant breeding research.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2237-2239}, pmid = {27844115}, issn = {1432-2242}, mesh = {Crosses, Genetic ; Genetic Research ; Genetics/*history ; Genotype ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Phenotype ; *Plant Breeding ; Plants/*genetics ; }, }
@article {pmid27832455, year = {2016}, author = {Sankaran, N}, title = {Stage-hands, make-up artists, and other backstage characters in the drama of science.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {19}, doi = {10.1007/s40656-016-0120-3}, pmid = {27832455}, issn = {0391-9714}, mesh = {Europe ; Genetics/*history ; History, 20th Century ; North America ; }, }
@article {pmid27832454, year = {2016}, author = {Shah, E}, title = {A tale of two biographies: the myth and truth of Barbara McClintock.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {18}, doi = {10.1007/s40656-016-0119-9}, pmid = {27832454}, issn = {0391-9714}, mesh = {*Biographies as Topic ; Cytogenetics/*history ; History, 20th Century ; United States ; }, abstract = {Evelyn Fox Keller wrote first biography of the Nobel Prize winning geneticist Barbara McClintock in which Keller discussed how McClintock felt being rejected by her peers in the 1950s because she questioned the dominant idea of the particulate gene and instead proposed that the genetic material jumped positions on the chromosome which indicated that the gene did not control but was controlled by the cellular environment. Keller's story of McClintock's life is an account of a woman scientist's conception of science and how her unorthodox views isolated her from the main stream science. Keller's biography was read by many in a way that made McClintock a feminist icon by showing how women scientists "see" scientific objects differently and how their science is holistic and hence radically different from the reductionism of male-dominated science. The second biographer Nathaniel Comfort calls this story a myth. In his detailed intellectual biography, Comfort embarks on an energetic journey to separate fact from fiction to dismantle what he calls the McClintock myth. The difference between two biographers is not entirely about evidences or about separating fact from fiction but about their adoption of two contrasting paradigms of scientist's subjectivity: Keller foregrounds McClintock's affective self and Comfort her rational. In this commentary I have closely and comparatively read both biographies to revisit Keller's "myth" and Comfort's "truth" and to provide yet another interpretation of McClintock's life and work from the perspective of object relations theories in psychoanalysis. Instead of figuring out the extent to which the myth bears truth as Comfort does, I have asked questions: How and why this private myth was in the making throughout McClintock's life and work? How this private myth was related to the making of her science? By using developmental psychoanalytical approach, I show that what Comfort calls McClintock's private myth was not something that was partly fictional and hence incorrect or wrong but it emerged from a deeply and compellingly affective place in McClintock's life. This so called myth was integral to and fundamentally formative of who she was, a woman and a scientist, and that this myth formatively shaped McClintock's relationship with science's objects and science's subjects. This commentary aims to show the relevance and usefulness of psychoanalytical theories for understanding scientific subjectivities and provides a revision to the neo-Kantian idea of scientist subject-a unified and wilful, self-determined, self-regulated, active, autonomous, and rational subject wilfully driven by social and scientific ethos-generally popular among historians of science.}, }
@article {pmid27830591, year = {2016}, author = {Ferrús, A}, title = {One plus one makes more than two.}, journal = {Journal of neurogenetics}, volume = {30}, number = {3-4}, pages = {152-154}, doi = {10.1080/01677063.2016.1246546}, pmid = {27830591}, issn = {1563-5260}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, abstract = {Pleasant memories rejuvenate and this letter is written to that purpose. Although dedicated to Barry Ganetzky, I hope it will please also those that shared their times with us in the lab of Seymour Benzer. For those too young to have so distant memories, I hope this text will teach them the same lessons we learnt then.}, }
@article {pmid27821491, year = {2016}, author = {Casadio, M}, title = {Fanni Gergely: Exploring centrosome biology.}, journal = {The Journal of cell biology}, volume = {215}, number = {3}, pages = {294-295}, pmid = {27821491}, issn = {1540-8140}, mesh = {Biomedical Research/*history ; Centrosome/*physiology ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27803212, year = {2016}, author = {Pederson, T}, title = {Roger Tsien and Chemical Biology.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {30}, number = {11}, pages = {3655-3657}, doi = {10.1096/fj.161101ufm}, pmid = {27803212}, issn = {1530-6860}, mesh = {California ; Chemistry, Bioinorganic/*history ; Green Fluorescent Proteins/chemistry/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Nobel Prize ; }, }
@article {pmid27770223, year = {2017}, author = {}, title = {Benson Earl Ginsburg 1918-2016: A Pioneer in Behavior Genetics.}, journal = {Behavior genetics}, volume = {47}, number = {1}, pages = {1-2}, doi = {10.1007/s10519-016-9824-0}, pmid = {27770223}, issn = {1573-3297}, mesh = {Genetics, Behavioral/*history/*trends ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27765265, year = {2017}, author = {Rabouille, C and Deschamps, J}, title = {On the shoulders of Hubrecht: From embryos to stem cells.}, journal = {Developmental biology}, volume = {428}, number = {2}, pages = {264-272}, doi = {10.1016/j.ydbio.2016.10.005}, pmid = {27765265}, issn = {1095-564X}, mesh = {*Academies and Institutes/history ; Animals ; Developmental Biology/history ; *Embryology/history ; Embryonic Development/genetics ; Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; Medical Oncology/history ; Netherlands ; Regenerative Medicine/history ; Stem Cell Research/history ; *Stem Cells ; }, abstract = {One hundred years of the Hubrecht Institute were celebrated in May 2016 with the organization of a one-day symposium "From embryos to stem cells" on the Uithof Campus, Utrecht, the Netherlands. Nine distinguished speakers were invited. They all represent a research branch originating from the passion of Institute founder, Ambrosius Hubrecht, for embryology:, regulation of gene expression, genome structure and function, embryonic and adult stem cells, nuclear reprogramming, and understanding cancer and other diseases using model organisms. The centennial symposium not only retraced the history of the Institute and of modern developmental biology, but was also a tribute to basic research. From there, avenues to therapeutics are being developed and implemented. The symposium was organized, introduced and chaired by Jeroen den Hertog and Alexander van Oudenaarden, the present Directors of the Institute, who also stand on Hubrecht's shoulders.}, }
@article {pmid26828014, year = {2016}, author = {Andreassen, CN and Schack, LM and Laursen, LV and Alsner, J}, title = {Radiogenomics - current status, challenges and future directions.}, journal = {Cancer letters}, volume = {382}, number = {1}, pages = {127-136}, doi = {10.1016/j.canlet.2016.01.035}, pmid = {26828014}, issn = {1872-7980}, mesh = {Data Mining ; Databases, Genetic ; Diffusion of Innovation ; Forecasting ; Genetic Association Studies ; Genetic Markers ; Genetic Predisposition to Disease ; Genomics/history/*methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/genetics/metabolism/*radiotherapy ; *Polymorphism, Single Nucleotide ; Precision Medicine/history/*methods/trends ; Quantitative Trait Loci ; Radiation Injuries/*genetics/metabolism/prevention &amp; control ; Radiation Oncology/history/*methods/trends ; Radiation Tolerance/*genetics ; Radiotherapy/adverse effects ; Risk Assessment ; Risk Factors ; Transforming Growth Factor beta1/genetics ; }, abstract = {Radiogenomics designates a scientific field that addresses possible associations between genetic germline alterations and normal tissue toxicity after radiotherapy. The ultimate aim of this research is to establish a gene-based predictive test for normal tissue radiosensitivity. During the last 5 years, substantial progress has been achieved in this field. Several compelling associations for SNPs have been demonstrated in large candidate gene studies as well as genome wide association studies. These findings shed new light on radiobiology and expand our understanding of the processes that lead to side effects after radiotherapy. Despite this, certain fundamental challenges still relate to genomic approaches. Based on the latest insights into complex trait genetics and molecular genetics, we provide an analysis of these challenges and propose putative strategies to further advance the field. These strategies include 'big data approaches' and collaborative research within international consortia. Furthermore, research that combines the study of radiation-induced gene expression and genome-wide SNP genotype may discover genetic alterations that regulate the biological response to ionizing radiation. Thus, such integrative approaches may lead to genetic alterations that affect risk of normal tissue toxicity.}, }
@article {pmid27754860, year = {2016}, author = {Kinzler, K and Vogelstein, B}, title = {Necessity Is the Mother of Invention: The Development of Digital Genomics.}, journal = {Clinical chemistry}, volume = {62}, number = {12}, pages = {1668-1669}, doi = {10.1373/clinchem.2016.262741}, pmid = {27754860}, issn = {1530-8561}, mesh = {Genomics/*history ; History, 20th Century ; Humans ; Inventions/history ; Polymerase Chain Reaction/*history/methods ; }, }
@article {pmid27754546, year = {2016}, author = {Lynøe, N}, title = {[The N-rays were imagined, but the research was no fraud].}, journal = {Lakartidningen}, volume = {113}, number = {}, pages = {}, pmid = {27754546}, issn = {1652-7518}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Observer Variation ; *Radiation ; Research Design/*standards ; Scientific Misconduct/*history ; }, }
@article {pmid27744490, year = {2016}, author = {Gebhardt, C}, title = {The historical role of species from the Solanaceae plant family in genetic research.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2281-2294}, pmid = {27744490}, issn = {1432-2242}, mesh = {Biological Evolution ; Chromosome Mapping ; Comparative Genomic Hybridization ; Genetic Linkage ; Genetic Research/*history ; Genome, Plant ; History, 20th Century ; History, 21st Century ; Quantitative Trait Loci ; Solanaceae/*genetics ; }, abstract = {KEY MESSAGE: This article evaluates the main contributions of tomato, tobacco, petunia, potato, pepper and eggplant to classical and molecular plant genetics and genomics since the beginning of the twentieth century. Species from the Solanaceae family form integral parts of human civilizations as food sources and drugs since thousands of years, and, more recently, as ornamentals. Some Solanaceous species were subjects of classical and molecular genetic research over the last 100 years. The tomato was one of the principal models in twentieth century classical genetics and a pacemaker of genome analysis in plants including molecular linkage maps, positional cloning of disease resistance genes and quantitative trait loci (QTL). Besides that, tomato is the model for the genetics of fruit development and composition. Tobacco was the major model used to establish the principals and methods of plant somatic cell genetics including in vitro propagation of cells and tissues, totipotency of somatic cells, doubled haploid production and genetic transformation. Petunia was a model for elucidating the biochemical and genetic basis of flower color and development. The cultivated potato is the economically most important Solanaceous plant and ranks third after wheat and rice as one of the world's great food crops. Potato is the model for studying the genetic basis of tuber development. Molecular genetics and genomics of potato, in particular association genetics, made valuable contributions to the genetic dissection of complex agronomic traits and the development of diagnostic markers for breeding applications. Pepper and eggplant are horticultural crops of worldwide relevance. Genetic and genomic research in pepper and eggplant mostly followed the tomato model. Comparative genome analysis of tomato, potato, pepper and eggplant contributed to the understanding of plant genome evolution.}, }
@article {pmid27738921, year = {2017}, author = {Simunek, MV and Mielewczik, M and Levit, GS and Hossfeld, U}, title = {Armin von Tschermak-Seysenegg (1870-1952): Physiologist and Co-'Rediscoverer' of Mendel's laws.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {136}, number = {1-2}, pages = {59-67}, pmid = {27738921}, issn = {1611-7530}, mesh = {Austria-Hungary ; Botany/*history ; Genetic Variation ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plant Physiological Phenomena ; Plants ; }, abstract = {The 'rediscovery' of Mendel's laws in 1900 was a turning point in modern research of heredity/genetics. According to the traditional view, adopted and fostered by many textbooks of genetics, Mendel's principles were presented in the first half of 1900 simultaneously and independently by three biologists (H. de Vries, C. Correns, E. v. Tschermak-Seysenegg). Having thus laid the foundations of further development, the 'rediscovery' continues to attract considerable interest. Since the 1950s, however, serious questions arose concerning both the chronology and specific conceptual achievement of the scientists involved. Not only the independence but also parallelism was analysed in the context of individual research programmes of these three scholars. The youngest of them, Erich v. Tschermak-Seysenegg, was even excluded from the list of 'rediscoverers'. The aim of this paper is to use new archival evidence and approximate the contribution of the physiologist and ophthalmologist Armin von Tschermak-Seysenegg (1870-1952) to the events of 1900 and 1901.}, }
@article {pmid27736743, year = {2016}, author = {Jacob, H}, title = {From rat pathophysiology to genomic medicine: an interview with Howard Jacob.}, journal = {Disease models &amp; mechanisms}, volume = {9}, number = {10}, pages = {1073-1077}, doi = {10.1242/dmm.027805}, pmid = {27736743}, issn = {1754-8411}, mesh = {Animals ; Biomedical Research/*history ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Mice ; Rats ; }, abstract = {Howard Jacob is best known for pioneering genomic sequencing of a patient to solve a mysterious pediatric case in 2010. With roots in pharmacology and cardiovascular disease, however, his career has largely been dedicated to dissecting the physiology and genetics of the rat to help understand complex human diseases. Howard was Director of the Human and Molecular Genetics Center at the Medical College of Wisconsin for 16 years, during which time he applied a combination of approaches, including quantitative genetics, integrative physiology and next-generation sequencing, in rat models to shed light on cardiovascular, metabolic and renal disorders. He was a key contributor to the genomic toolbox for rat research, and generated the first targeted-knockout rat models using zinc-finger-nuclease technology. He also contributed to sequencing of the rat genome and establishment of the Rat Genome Database. In this interview, Howard provides his perspectives on the past, present and future of rat-based translational research and explains why, despite his many successes as the leader of a rat group, he recently made the transition to clinical genomics.}, }
@article {pmid27730306, year = {2017}, author = {Hoßfeld, U and Jacobsen, HJ and Plass, C and Brors, B and Wackernagel, W}, title = {150 years of Johann Gregor Mendel's "Versuche über Pflanzen-Hybriden".}, journal = {Molecular genetics and genomics : MGG}, volume = {292}, number = {1}, pages = {1-3}, pmid = {27730306}, issn = {1617-4623}, mesh = {Animals ; Genetics/*history ; Genomics/history ; History, 19th Century ; Humans ; Molecular Biology/history ; Plants/genetics ; Precision Medicine ; }, }
@article {pmid27729491, year = {2016}, author = {Fairbanks, DJ and Abbott, S}, title = {Darwin's Influence on Mendel: Evidence from a New Translation of Mendel's Paper.}, journal = {Genetics}, volume = {204}, number = {2}, pages = {401-405}, pmid = {27729491}, issn = {1943-2631}, mesh = {Biological Evolution ; Genetics/*history ; History, 19th Century ; *Selection, Genetic ; }, abstract = {Gregor Mendel's classic paper, Versuche über Pflanzen-Hybriden (Experiments on Plant Hybrids), was published in 1866, hence 2016 is its sesquicentennial. Mendel completed his experiments in 1863 and shortly thereafter began compiling the results and writing his paper, which he presented in meetings of the Natural Science Society in Brünn in February and March of 1865. Mendel owned a personal copy of Darwin's Origin of Species, a German translation published in 1863, and it contains his marginalia. Its publication date indicates that Mendel's study of Darwin's book could have had no influence while he was conducting his experiments but its publication date coincided with the period of time when he was preparing his paper, making it possible that Darwin's writings influenced Mendel's interpretations and theory. Based on this premise, we prepared a Darwinized English translation of Mendel's paper by comparing German terms Mendel employed with the same terms in the German translation of Origin of Species in his possession, then using Darwin's counterpart English words and phrases as much as possible in our translation. We found a substantially higher use of these terms in the final two (10th and 11th) sections of Mendel's paper, particularly in one key paragraph, where Mendel reflects on evolutionary issues, providing strong evidence of Darwin's influence on Mendel.}, }
@article {pmid27729490, year = {2016}, author = {Sandell, L and Otto, SP}, title = {Probing the Depths of Biological Diversity During the Second Century of GENETICS.}, journal = {Genetics}, volume = {204}, number = {2}, pages = {395-400}, pmid = {27729490}, issn = {1943-2631}, mesh = {Biodiversity ; Biological Evolution ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid27717955, year = {2016}, author = {Smýkal, P and K Varshney, R and K Singh, V and Coyne, CJ and Domoney, C and Kejnovský, E and Warkentin, T}, title = {From Mendel's discovery on pea to today's plant genetics and breeding : Commemorating the 150th anniversary of the reading of Mendel's discovery.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2267-2280}, pmid = {27717955}, issn = {1432-2242}, mesh = {Chromosome Mapping ; Genetic Variation ; Genetics/*history ; Genome, Plant ; Genomics ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Peas/*genetics ; Phenotype ; *Plant Breeding ; Plants, Genetically Modified/genetics ; Quantitative Trait Loci ; Selection, Genetic ; }, abstract = {KEY MESSAGE: This work discusses several selected topics of plant genetics and breeding in relation to the 150th anniversary of the seminal work of Gregor Johann Mendel. In 2015, we celebrated the 150th anniversary of the presentation of the seminal work of Gregor Johann Mendel. While Darwin's theory of evolution was based on differential survival and differential reproductive success, Mendel's theory of heredity relies on equality and stability throughout all stages of the life cycle. Darwin's concepts were continuous variation and "soft" heredity; Mendel espoused discontinuous variation and "hard" heredity. Thus, the combination of Mendelian genetics with Darwin's theory of natural selection was the process that resulted in the modern synthesis of evolutionary biology. Although biology, genetics, and genomics have been revolutionized in recent years, modern genetics will forever rely on simple principles founded on pea breeding using seven single gene characters. Purposeful use of mutants to study gene function is one of the essential tools of modern genetics. Today, over 100 plant species genomes have been sequenced. Mapping populations and their use in segregation of molecular markers and marker-trait association to map and isolate genes, were developed on the basis of Mendel's work. Genome-wide or genomic selection is a recent approach for the development of improved breeding lines. The analysis of complex traits has been enhanced by high-throughput phenotyping and developments in statistical and modeling methods for the analysis of phenotypic data. Introgression of novel alleles from landraces and wild relatives widens genetic diversity and improves traits; transgenic methodologies allow for the introduction of novel genes from diverse sources, and gene editing approaches offer possibilities to manipulate gene in a precise manner.}, }
@article {pmid27698139, year = {2016}, author = {Gabrielsen, P}, title = {QnAs with Alan G. Hinnebusch.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {41}, pages = {11380-11381}, pmid = {27698139}, issn = {1091-6490}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Protein Biosynthesis ; RNA, Messenger/genetics/metabolism ; Saccharomyces cerevisiae/genetics ; }, }
@article {pmid27696552, year = {2016}, author = {Hoffmann, GR and Shelby, MD and Zeiger, E}, title = {Remembering Heinrich Malling.}, journal = {Environmental and molecular mutagenesis}, volume = {57}, number = {8}, pages = {575-578}, doi = {10.1002/em.22056}, pmid = {27696552}, issn = {1098-2280}, mesh = {Animals ; DNA/genetics ; Denmark ; *Genetic Techniques/history ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; *Mutagenesis ; Mutation ; United States ; }, }
@article {pmid27695890, year = {2016}, author = {Bicknell, R and Catanach, A and Hand, M and Koltunow, A}, title = {Seeds of doubt: Mendel's choice of Hieracium to study inheritance, a case of right plant, wrong trait.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2253-2266}, pmid = {27695890}, issn = {1432-2242}, mesh = {Apomixis/*genetics ; Asteraceae/*genetics ; Genetics/*history ; History, 19th Century ; *Hybridization, Genetic ; Inheritance Patterns ; Phenotype ; Plant Breeding ; }, abstract = {KEY MESSAGE: In this review, we explore Gregor Mendel's hybridization experiments with Hieracium , update current knowledge on apomictic reproduction and describe approaches now being used to develop true-breeding hybrid crops. From our perspective, it is easy to conclude that Gregor Mendel's work on pea was insightful, but his peers clearly did not regard it as being either very convincing or of much importance. One apparent criticism was that his findings only applied to pea. We know from a letter he wrote to Carl von Nägeli, a leading botanist, that he believed he needed to "verify, with other plants, the results obtained with Pisum". For this purpose, Mendel adopted Hieracium subgenus Pilosella, a phenotypically diverse taxon under botanical study at the time. What Mendel could not have known, however, is that the majority of these plants are not sexual plants like pea, but instead are facultatively apomictic. In these forms, the majority of seed arises asexually, and such progeny are, therefore, clones of the maternal parent. Mendel obtained very few hybrids in his Hieracium crosses, yet we calculate that he probably emasculated in excess of 5000 Hieracium florets to even obtain the numbers he did. Despite that effort, he was perplexed by the results, and they ultimately led him to conclude that "the hybrids of Hieracium show a behaviour exactly opposite to those of Pisum". Apomixis is now a topic of intense research interest, and in an ironic twist of history, Hieracium subgenus Pilosella has been developed as a molecular model to study this trait. In this paper, we explore further Mendel's hybridization experiments with Hieracium, update current knowledge on apomictic reproduction and describe approaches now being used to develop true-breeding hybrid crops.}, }
@article {pmid27694743, year = {2016}, author = {}, title = {Teri Lear, PhD (1951-2016).}, journal = {Cytogenetic and genome research}, volume = {149}, number = {4}, pages = {237-240}, doi = {10.1159/000450535}, pmid = {27694743}, issn = {1424-859X}, mesh = {Animals ; Cytogenetics/*history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Horses/*genetics ; Kentucky ; }, }
@article {pmid27690769, year = {2016}, author = {O'Malley, BW}, title = {Origins of the Field of Molecular Endocrinology: A Personal Perspective.}, journal = {Molecular endocrinology (Baltimore, Md.)}, volume = {30}, number = {10}, pages = {1015-1018}, pmid = {27690769}, issn = {1944-9917}, support = {R01 HD008188/HD/NICHD NIH HHS/United States ; }, mesh = {Animals ; Endocrinology/*history ; History, 20th Century ; History, 21st Century ; Hormones/metabolism ; Humans ; Molecular Biology/*history ; Receptors, Cell Surface/metabolism ; }, }
@article {pmid27690768, year = {2016}, author = {Nilson, JH}, title = {Bidding a Fond Farwell to Molecular Endocrinology.}, journal = {Molecular endocrinology (Baltimore, Md.)}, volume = {30}, number = {10}, pages = {1023-1024}, doi = {10.1210/me.2016-1130}, pmid = {27690768}, issn = {1944-9917}, mesh = {Congresses as Topic/history ; Endocrinology/history/*trends ; History, 20th Century ; History, 21st Century ; Molecular Biology/history/*trends ; Periodicals as Topic/*history/*trends ; Societies, Scientific/history ; }, }
@article {pmid27690765, year = {2016}, author = {Thompson, EB}, title = {Reflections on the Merger of Molecular Endocrinology and Endocrinology.}, journal = {Molecular endocrinology (Baltimore, Md.)}, volume = {30}, number = {10}, pages = {1019-1020}, doi = {10.1210/me.2016-1128}, pmid = {27690765}, issn = {1944-9917}, mesh = {Endocrinology/*history ; History, 20th Century ; Molecular Biology/*history ; Periodicals as Topic/*history ; Societies, Scientific/history ; }, }
@article {pmid27690355, year = {2016}, author = {Adhikari, K and Mendoza-Revilla, J and Chacón-Duque, JC and Fuentes-Guajardo, M and Ruiz-Linares, A}, title = {Admixture in Latin America.}, journal = {Current opinion in genetics &amp; development}, volume = {41}, number = {}, pages = {106-114}, doi = {10.1016/j.gde.2016.09.003}, pmid = {27690355}, issn = {1879-0380}, mesh = {African Continental Ancestry Group/*genetics ; European Continental Ancestry Group/*genetics ; Genetics, Population/*history ; Genome, Human ; History, 15th Century ; History, 16th Century ; Human Migration/*history ; Humans ; Latin America ; }, abstract = {Latin Americans arguably represent the largest recently admixed populations in the world. This reflects a history of massive settlement by immigrants (mostly Europeans and Africans) and their variable admixture with Natives, starting in 1492. This process resulted in the population of Latin America showing an extensive genetic and phenotypic diversity. Here we review how genetic analyses are being applied to examine the demographic history of this population, including patterns of mating, population structure and ancestry. The admixture history of Latin America, and the resulting extensive diversity of the region, represents a natural experiment offering an advantageous setting for genetic association studies. We review how recent analyses in Latin Americans are contributing to elucidating the genetic architecture of human complex traits.}, }
@article {pmid27686564, year = {2016}, author = {Ferraro, A}, title = {Theorizing epigenesis in a time of preexistence: From the end of the seventeenth century to the 1720s.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {4}, pages = {14}, doi = {10.1007/s40656-016-0115-0}, pmid = {27686564}, issn = {0391-9714}, mesh = {*Epigenesis, Genetic ; Epigenomics/*history ; France ; History, 17th Century ; History, 18th Century ; }, abstract = {According to a classic periodization in the history of science, biological thought as it emerged in France from the last decades of the seventeenth century to the 1740s was strongly committed to the doctrine of the preexistence of germs. Nicolas Malebranche's role in disseminating this paradigm, particularly in the milieu of the Académie Royale des Sciences during the years when Bernard Le Bouyer de Fontenelle was its secretary, has been studied in detail, especially by Jacques Roger. However, much less has been said about the authors who argued against this doctrine prior to the appearance of the relevant pieces by Pierre-Louis Moreau de Maupertuis, Georges-Louis Leclerc, Comte de Buffon, and Denis Diderot. I aim to examine a series of French medical treatises and clandestine manuscripts that outlined a mechanist theory of epigenesis, between the end of the seventeenth century and the 1720s, to bring to light the strategies-often quite original-that allowed them to achieve this result. One interesting case is the heterodox readers of Malebranche, which use some of his own arguments (notably on the physiology of brain traces and the laws of nature) both against preexistence and to support epigenesis. I inquire into the historical worth of the positions defended by these authors as well as into the connections existing between the history of epigenesis and that of materialism in the early modern era.}, }
@article {pmid27681168, year = {2016}, author = {Gould, TD}, title = {Irving I. Gottesman (1930-2016): the multifactorial threshold model of complex phenotypes mediated by endophenotype strategies.}, journal = {Genes, brain, and behavior}, volume = {15}, number = {8}, pages = {775-776}, doi = {10.1111/gbb.12345}, pmid = {27681168}, issn = {1601-183X}, mesh = {*Behavior ; Endophenotypes ; Epigenomics/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Schizophrenia/*genetics ; }, }
@article {pmid27664793, year = {2017}, author = {Merrick, WC}, title = {The Celebration of 40 years of structural biology at Aarhus University as seen through the eyes of a translationalist.}, journal = {New biotechnology}, volume = {38}, number = {Pt A}, pages = {26-28}, doi = {10.1016/j.nbt.2016.09.004}, pmid = {27664793}, issn = {1876-4347}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; *Models, Structural ; *Protein Biosynthesis ; *Universities ; }, abstract = {Over the past 50 years, both Brian Clark and I have worked on tRNA, Brian more successfully than I. Our common interests have established collaborations and the training of Aarhus University students in my laboratory. As part of my rejuvenation plan, I have returned to Aarhus and participated in teaching a course in protein synthesis about every five years, beginning in 1990. It has been through this close contact with both Brian and the numerous faculty of the structural biology group that I have been able to witness and appreciate the great strides they have made, both in building a world class department and in the ground breaking discoveries that went with them. While much of the success of the Department of Molecular Biology and Genetics reflects the individual accomplishments of many, the growth of the department is largely a reflection of the dogged determination of Brian to develop one of the most modern and competitive departments in Denmark, if not in Europe (sort of reminds one of Winston Churchill). This retrospective highlights our parallel paths in tRNA and protein synthesis research and Brian's influence in establishing world renowned research in Aarhus.}, }
@article {pmid27662059, year = {2016}, author = {Wall, JD and Yoshihara Caldeira Brandt, D}, title = {Archaic admixture in human history.}, journal = {Current opinion in genetics &amp; development}, volume = {41}, number = {}, pages = {93-97}, doi = {10.1016/j.gde.2016.07.002}, pmid = {27662059}, issn = {1879-0380}, mesh = {Africa ; Animals ; DNA, Ancient/*analysis ; Genetics, Population/*history ; History, Ancient ; Hominidae/*genetics ; Humans ; Neanderthals/*genetics ; }, abstract = {Modern humans evolved in Southern or Eastern Africa, and spread from there across the rest of the world. As they expanded across Africa and Eurasia, they encountered other hominin groups. The extent to which modern and 'archaic' human groups interbred is an area of active research, and while we know that modern humans interbred with Neanderthals and Denisovans, there is not yet agreement on how many admixture events there were or on how much Neanderthal or Denisovan DNA can be found in contemporary genomes. Here we review what is known about archaic admixture in human history, with a focus on what has been discovered in the past 2 years.}, }
@article {pmid27644073, year = {2016}, author = {Rotimi, CN and Tekola-Ayele, F and Baker, JL and Shriner, D}, title = {The African diaspora: history, adaptation and health.}, journal = {Current opinion in genetics &amp; development}, volume = {41}, number = {}, pages = {77-84}, pmid = {27644073}, issn = {1879-0380}, support = {ZIA HG200362/ImNIH/Intramural NIH HHS/United States ; ZIA HG200362-02/ImNIH/Intramural NIH HHS/United States ; }, mesh = {Adaptation, Physiological/*genetics ; African Continental Ancestry Group/*genetics ; Apolipoprotein L1/genetics ; Enslavement/history ; Genetic Variation ; Genetics, Population/*history ; Genome, Human/*genetics ; Genomics/history ; History, 16th Century ; History, 17th Century ; History, 18th Century ; Humans ; Lipoprotein Lipase/genetics ; }, abstract = {The trans-Atlantic slave trade brought millions of Africans to the New World. Advances in genomics are providing novel insights into the history and health of Africans and the diasporan populations. Recent examples reviewed here include the unraveling of substantial hunter-gatherer and 'Eurasian' admixtures across sub-Saharan Africa, expanding our understanding of ancestral African genetics; the global ubiquity of mixed ancestry; the revealing of African ancestry in Latin Americans that likely derived from the slave trade; and understanding of the ancestral backgrounds of APOL1 and LPL found to influence kidney disease and lipid levels, respectively, providing specific insights into disease etiology and health disparities.}, }
@article {pmid27631794, year = {2016}, author = {Matunis, MJ and Rodriguez, MS}, title = {Concepts and Methodologies to Study Protein SUMOylation: An Overview.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1475}, number = {}, pages = {3-22}, doi = {10.1007/978-1-4939-6358-4_1}, pmid = {27631794}, issn = {1940-6029}, mesh = {Animals ; Chromatin/chemistry/*metabolism ; Cysteine Endopeptidases/genetics/*metabolism ; Eukaryotic Cells/cytology/*metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Plants/genetics/metabolism ; Protein Isoforms/genetics/metabolism ; *Protein Processing, Post-Translational ; Proteomics/*history/methods ; Saccharomyces cerevisiae/genetics/metabolism ; Small Ubiquitin-Related Modifier Proteins/genetics/*metabolism ; Sumoylation ; }, abstract = {Protein modification by the small ubiquitin-related modifier (SUMO) was simultaneously discovered by several groups at the middle of the 1990s. Although distinct names were proposed including Sentrin, GMP1, PIC1, or SMT3, SUMO became the most popular. Early studies on the functions of SUMOylation focused on activities in the nucleus, including transcription activation, chromatin structure, and DNA repair. However, it is now recognized that SUMOylation affects a large diversity of cellular processes both in the nucleus and the cytoplasm and functions of SUMOylation appear to have undefined limits. SUMO-conjugating enzymes and specific proteases actively regulate the modification status of target proteins. The recent discoveries of ubiquitin-SUMO hybrid chains, multiple SUMO-interacting motifs, and macromolecular complexes regulated by SUMOylation underscore the high complexity of this dynamic reversible system. New conceptual frameworks suggested by these findings have motivated the development of new methodologies to study pre- and post-SUMOylation events in vitro and in vivo, using distinct model organisms. Here we summarize some of the new developments and methodologies in the field, particularly those that will be further elaborated on in the chapters integrating this book.}, }
@article {pmid27620537, year = {2016}, author = {Jackson, S}, title = {The 2016 Lasker~Koshland Special Achievement Award recognizes Bruce Alberts' lifelong dedication to research, policy, and education.}, journal = {The Journal of clinical investigation}, volume = {126}, number = {10}, pages = {3645-3650}, pmid = {27620537}, issn = {1558-8238}, mesh = {*Awards and Prizes ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Portraits as Topic ; }, }
@article {pmid27613957, year = {2016}, author = {Gierasch, LM}, title = {A Loyal Friend of ASBMB and JBC: Howard Schachman, 1918-2016.}, journal = {The Journal of biological chemistry}, volume = {291}, number = {37}, pages = {19724}, pmid = {27613957}, issn = {1083-351X}, mesh = {Biochemistry/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Molecular Biology/*history ; Societies, Scientific/*history ; }, }
@article {pmid27602739, year = {2016}, author = {Dance, A}, title = {Medical histories.}, journal = {Nature}, volume = {537}, number = {7619}, pages = {S52-3}, pmid = {27602739}, issn = {1476-4687}, mesh = {Alkaptonuria/genetics ; Arsenites/adverse effects/history/therapeutic use ; Blood Grouping and Crossmatching/history ; Blood Transfusion/history/methods ; Breast Neoplasms/drug therapy/genetics ; Classification ; Cytochrome P-450 Enzyme System/genetics/metabolism ; Female ; Genetic Testing/history ; Genetic Therapy/history ; Genetics/history ; Genome, Human/genetics ; Genotype ; Greece ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; Human Genome Project/economics/history ; Humans ; Medical History Taking ; Medicine, Ayurvedic/history ; Pharmacogenetics/*history ; Phenylthiourea/pharmacology ; Potassium Compounds/adverse effects/history/therapeutic use ; Precision Medicine/*history ; Sequence Analysis, DNA/economics/history/instrumentation ; Taste/drug effects/genetics ; Warfarin/adverse effects ; }, }
@article {pmid27601615, year = {2016}, author = {Barahona, A}, title = {Medical Genetics and the First Studies of the Genetics of Populations in Mexico.}, journal = {Genetics}, volume = {204}, number = {1}, pages = {11-19}, pmid = {27601615}, issn = {1943-2631}, mesh = {ABO Blood-Group System/genetics ; Gene Frequency ; Genetic Variation ; Genetics, Medical/*history/methods ; Genetics, Population/*history/methods ; History, 20th Century ; Humans ; Mexico ; Population Groups ; }, abstract = {Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts.}, }
@article {pmid27584572, year = {2016}, author = {Atkinson, NS}, title = {How the Ganetzky lab drove me to alcohol.}, journal = {Journal of neurogenetics}, volume = {30}, number = {3-4}, pages = {155-158}, pmid = {27584572}, issn = {1563-5260}, support = {R01 AA018037/AA/NIAAA NIH HHS/United States ; }, mesh = {Genetics/*history ; History, 20th Century ; Humans ; }, abstract = {This is a brief reminiscence of my time in the Ganetzky lab from 1986-1990 and its effect on my scientific trajectory.}, }
@article {pmid27563746, year = {2017}, author = {Pasman, Z and Garcia-Blanco, MA}, title = {Early history of circular RNAs, children of splicing.}, journal = {RNA biology}, volume = {14}, number = {8}, pages = {975-977}, pmid = {27563746}, issn = {1555-8584}, mesh = {Eukaryotic Cells/cytology/metabolism ; Exons ; History, 20th Century ; History, 21st Century ; Humans ; Introns ; Molecular Biology/*history ; Nucleic Acid Conformation ; RNA/*genetics/metabolism ; RNA Precursors/*genetics/metabolism ; *RNA Splice Sites ; *RNA Splicing ; RNA, Circular ; Spliceosomes/metabolism/ultrastructure ; }, abstract = {In this commentary we briefly summarize early work on circular RNAs derived from spliceosome mediated circularization. We highlight how this early work inspired work on the basic mechanisms of nuclear RNA splicing, the possible function of circular RNAs and the potential uses of circular RNAs as tools in biomedicine. Recent developments in the study of circular RNAs, summarized in this volume, have brought these questions back to the foreground.}, }
@article {pmid27558539, year = {2016}, author = {McCammon, JA}, title = {Autobiography of J. Andrew McCammon.}, journal = {The journal of physical chemistry. B}, volume = {120}, number = {33}, pages = {8057-8060}, doi = {10.1021/acs.jpcb.6b00834}, pmid = {27558539}, issn = {1520-5207}, mesh = {*Chemistry, Physical/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; United States ; Workforce ; }, }
@article {pmid27551696, year = {2016}, author = {Snyder, A}, title = {Irving Gottesman.}, journal = {Lancet (London, England)}, volume = {388}, number = {10045}, pages = {654}, doi = {10.1016/s0140-6736(16)31284-3}, pmid = {27551696}, issn = {1474-547X}, mesh = {Faculty ; *Gene-Environment Interaction ; Genetics/education/*history ; Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Humans ; Psychiatry/*history ; Psychology/education/*history ; Psychology, Clinical/history ; Schizophrenia/etiology/genetics/*history ; }, }
@article {pmid27551067, year = {2016}, author = {Nair, P}, title = {QnAs with Huda Y. Zoghbi.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {35}, pages = {9665-9667}, pmid = {27551067}, issn = {1091-6490}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Methyl-CpG-Binding Protein 2/genetics/*metabolism ; *Molecular Biology/history ; Mutation ; *Neurosciences/history ; Rett Syndrome/*genetics/pathology ; United States ; Workforce ; }, }
@article {pmid27540900, year = {2016}, author = {Opitz, JM and Biesecker, LG and Hennekam, RC}, title = {GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.}, journal = {American journal of medical genetics. Part A}, volume = {170}, number = {10}, pages = {2501-2502}, doi = {10.1002/ajmg.a.37760}, pmid = {27540900}, issn = {1552-4833}, mesh = {Genetics, Medical/*history ; History, 21st Century ; Humans ; Serial Publications/history ; }, }
@article {pmid27528675, year = {2016}, author = {Doctrow, B}, title = {QnAs with Shiv Grewal.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {34}, pages = {9388-9389}, pmid = {27528675}, issn = {1091-6490}, mesh = {Heterochromatin/*metabolism/ultrastructure ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Biology/history ; RNA, Small Interfering/*genetics/metabolism ; Schizosaccharomyces/*genetics/metabolism ; Transcription Termination, Genetic ; United States ; Workforce ; }, }
@article {pmid27518555, year = {2016}, author = {Hassan, BA}, title = {The I in Scientist.}, journal = {Cell}, volume = {166}, number = {4}, pages = {790-793}, doi = {10.1016/j.cell.2016.07.037}, pmid = {27518555}, issn = {1097-4172}, mesh = {Animals ; Biomedical Research ; Career Choice ; Drosophila/cytology/physiology ; Genetics/*history ; Germany ; History, 20th Century ; History, 21st Century ; Lebanon ; Motivation ; Neurons/cytology ; }, }
@article {pmid27500925, year = {2016}, author = {Disterer, P and Kay, MA and Parker, GC}, title = {Dieter C. Gruenert, PhD (1949-2016).}, journal = {Nucleic acid therapeutics}, volume = {26}, number = {4}, pages = {266-267}, doi = {10.1089/nat.2016.29002.par}, pmid = {27500925}, issn = {2159-3345}, mesh = {Cystic Fibrosis/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27470221, year = {2016}, author = {Moises, H}, title = {In memoriam of Professor Irving Gottesman (1930-2016).}, journal = {European archives of psychiatry and clinical neuroscience}, volume = {266}, number = {6}, pages = {581-582}, doi = {10.1007/s00406-016-0717-2}, pmid = {27470221}, issn = {1433-8491}, mesh = {Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Humans ; Psychology, Clinical/history ; Schizophrenia/*history ; United States ; }, }
@article {pmid27460498, year = {2017}, author = {Charlesworth, B and Charlesworth, D}, title = {Population genetics from 1966 to 2016.}, journal = {Heredity}, volume = {118}, number = {1}, pages = {2-9}, pmid = {27460498}, issn = {1365-2540}, mesh = {Evolution, Molecular ; Genetic Drift ; Genetics, Population/*history/*trends ; History, 20th Century ; History, 21st Century ; Linkage Disequilibrium ; Models, Genetic ; Mutation ; Polymorphism, Genetic ; Selection, Genetic ; Sequence Analysis, DNA ; }, abstract = {We describe the astonishing changes and progress that have occurred in the field of population genetics over the past 50 years, slightly longer than the time since the first Population Genetics Group (PGG) meeting in January 1968. We review the major questions and controversies that have preoccupied population geneticists during this time (and were often hotly debated at PGG meetings). We show how theoretical and empirical work has combined to generate a highly productive interaction involving successive developments in the ability to characterise variability at the molecular level, to apply mathematical models to the interpretation of the data and to use the results to answer biologically important questions, even in nonmodel organisms. We also describe the changes from a field that was largely dominated by UK and North American biologists to a much more international one (with the PGG meetings having made important contributions to the increased number of population geneticists in several European countries). Although we concentrate on the earlier history of the field, because developments in recent years are more familiar to most contemporary researchers, we end with a brief outline of topics in which new understanding is still actively developing.}, }
@article {pmid27432989, year = {2016}, author = {Rissler, LJ}, title = {Union of phylogeography and landscape genetics.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {29}, pages = {8079-8086}, pmid = {27432989}, issn = {1091-6490}, mesh = {Animals ; Evolution, Molecular ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {Phylogeography and landscape genetics have arisen within the past 30 y. Phylogeography is said to be the bridge between population genetics and systematics, and landscape genetics the bridge between landscape ecology and population genetics. Both fields can be considered as simply the amalgamation of classic biogeography with genetics and genomics; however, they differ in the temporal, spatial, and organismal scales addressed and the methodology used. I begin by briefly summarizing the history and purview of each field and suggest that, even though landscape genetics is a younger field (coined in 2003) than phylogeography (coined in 1987), early studies by Dobzhansky on the "microgeographic races" of Linanthus parryae in the Mojave Desert of California and Drosophila pseudoobscura across the western United States presaged the fields by over 40 y. Recent advances in theory, models, and methods have allowed researchers to better synthesize ecological and evolutionary processes in their quest to answer some of the most basic questions in biology. I highlight a few of these novel studies and emphasize three major areas ripe for investigation using spatially explicit genomic-scale data: the biogeography of speciation, lineage divergence and species delimitation, and understanding adaptation through time and space. Examples of areas in need of study are highlighted, and I end by advocating a union of phylogeography and landscape genetics under the more general field: biogeography.}, }
@article {pmid27431856, year = {2016}, author = {Duda, P and Jan Zrzavý, }, title = {Human population history revealed by a supertree approach.}, journal = {Scientific reports}, volume = {6}, number = {}, pages = {29890}, pmid = {27431856}, issn = {2045-2322}, mesh = {Africa South of the Sahara ; Algorithms ; Chromosomes, Human, Y/*genetics ; DNA, Mitochondrial/*genetics ; Genetics, Population/*history ; History, Ancient ; Humans ; Linguistics ; *Phylogeny ; Whole Genome Sequencing ; }, abstract = {Over the past two decades numerous new trees of modern human populations have been published extensively but little attention has been paid to formal phylogenetic synthesis. We utilized the "matrix representation with parsimony" (MRP) method to infer a composite phylogeny (supertree) of modern human populations, based on 257 genetic/genomic, as well as linguistic, phylogenetic trees and 44 admixture plots from 200 published studies (1990-2014). The resulting supertree topology includes the most basal position of S African Khoisan followed by C African Pygmies, and the paraphyletic section of all other sub-Saharan peoples. The sub-Saharan African section is basal to the monophyletic clade consisting of the N African-W Eurasian assemblage and the consistently monophyletic Eastern superclade (Sahul-Oceanian, E Asian, and Beringian-American peoples). This topology, dominated by genetic data, is well-resolved and robust to parameter set changes, with a few unstable areas (e.g., West Eurasia, Sahul-Melanesia) reflecting the existing phylogenetic controversies. A few populations were identified as highly unstable "wildcard taxa" (e.g. Andamanese, Malagasy). The linguistic classification fits rather poorly on the supertree topology, supporting a view that direct coevolution between genes and languages is far from universal.}, }
@article {pmid27412297, year = {2017}, author = {Grodwohl, JB}, title = {"The Theory was Beautiful Indeed": Rise, Fall and Circulation of Maximizing Methods in Population Genetics (1930-1980).}, journal = {Journal of the history of biology}, volume = {50}, number = {3}, pages = {571-608}, pmid = {27412297}, issn = {1573-0387}, mesh = {Biological Evolution ; Biology/history ; Dissent and Disputes/*history ; *Genetic Fitness ; Genetics, Population/*history/methods ; History, 20th Century ; *Models, Genetic ; Research Personnel/history ; *Selection, Genetic ; }, abstract = {Describing the theoretical population geneticists of the 1960s, Joseph Felsenstein reminisced: "our central obsession was finding out what function evolution would try to maximize. Population geneticists used to think, following Sewall Wright, that mean relative fitness, W, would be maximized by natural selection" (Felsenstein 2000). The present paper describes the genesis, diffusion and fall of this "obsession", by giving a biography of the mean fitness function in population genetics. This modeling method devised by Sewall Wright in the 1930s found its heyday in the late 1950s and early 1960s, in the wake of Motoo Kimura's and Richard Lewontin's works. It seemed a reliable guide in the mathematical study of deterministic effects (the study of natural selection in populations of infinite size, with no drift), leading to powerful generalizations presenting law-like properties. Progress in population genetics theory, it then seemed, would come from the application of this method to the study of systems with several genes. This ambition came to a halt in the context of the influential objections made by the Australian mathematician Patrick Moran in 1963. These objections triggered a controversy between mathematically- and biologically-inclined geneticists, with affected both the formal standards and the aims of population genetics as a science. Over the course of the 1960s, the mean fitness method withered with the ambition of developing the deterministic theory. The mathematical theory became increasingly complex. Kimura re-focused his modeling work on the theory of random processes; as a result of his computer simulations, Lewontin became the staunchest critic of maximizing principles in evolutionary biology. The mean fitness method then migrated to other research areas, being refashioned and used in evolutionary quantitative genetics and behavioral ecology.}, }
@article {pmid27411511, year = {2016}, author = {Mäki-Tanila, A}, title = {Kalle Maijala 1927-2016.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {133}, number = {4}, pages = {252}, doi = {10.1111/jbg.12230}, pmid = {27411511}, issn = {1439-0388}, mesh = {Animals ; Breeding ; Cattle/*physiology ; Fertility ; Finland ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid27404040, year = {2016}, author = {Inouye, M}, title = {The first demonstration of RNA interference to inhibit mRNA function.}, journal = {Gene}, volume = {592}, number = {2}, pages = {332-333}, doi = {10.1016/j.gene.2016.07.024}, pmid = {27404040}, issn = {1879-0038}, mesh = {History, 20th Century ; Molecular Biology/history ; *RNA Interference ; RNA, Messenger/genetics ; }, abstract = {I review how RNA interference was discovered for the first time in 1984 in our laboratory.}, }
@article {pmid27390087, year = {2016}, author = {Inouye, M}, title = {The first attempt for the isolation of an intact mRNA for structure determination.}, journal = {Gene}, volume = {592}, number = {2}, pages = {331}, doi = {10.1016/j.gene.2016.07.005}, pmid = {27390087}, issn = {1879-0038}, mesh = {History, 20th Century ; Molecular Biology/history ; RNA, Bacterial/*chemistry/genetics/metabolism ; RNA, Messenger/*chemistry/genetics/metabolism ; }, abstract = {I review the history of the first mRNA which was isolated for the determination of its RNA sequence from Escherichia coli.}, }
@article {pmid27388255, year = {2016}, author = {Pow, S and Stahnisch, FW}, title = {Eugenics ideals, racial hygiene, and the emigration process of German-American neurogeneticist Franz Josef Kallmann (1897-1965).}, journal = {Journal of the history of the neurosciences}, volume = {25}, number = {3}, pages = {253-274}, doi = {10.1080/0964704X.2016.1187486}, pmid = {27388255}, issn = {1744-5213}, mesh = {Emigrants and Immigrants/*history ; Eugenics/*history ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; National Socialism/*history ; Neurosciences/*history ; Racism/*history ; United States ; }, abstract = {Biological psychiatry in the early twentieth century was based on interrelated disciplines, such as neurology and experimental biology. Neuropsychiatrist Franz Josef Kallmann (1897-1965) was a product of this interdisciplinary background who showed an ability to adapt to different scientific contexts, first in the field of neuromorphology in Berlin, and later in New York. Nonetheless, having innovative ideas, as Kallmann did, could be an ambiguous advantage, since they could lead to incommensurable scientific views and marginalization in existing research programs. Kallmann followed his Dr. Med. degree (1919) with training periods at the Charité Medical School in Berlin under psychiatrist Karl Bonhoeffer (1868-1948). Subsequently, he collaborated with Ernst Ruedin (1874-1952), investigating sibling inheritance of schizophrenia and becoming a protagonist of genetic research on psychiatric conditions. In 1936, Kallmann was forced to immigrate to the USA where he published The Genetics of Schizophrenia (1938), based on data he had gathered from the district pathological institutes of Berlin's public health department. Kallmann resumed his role as an international player in biological psychiatry and genetics, becoming president (1952) of the American Society of Human Genetics and Director of the New York State Psychiatric Institute in 1955. While his work was well received by geneticists, the idea of genetic differences barely took hold in American psychiatry, largely because of émigré psychoanalysts who dominated American clinical psychiatry until the 1960s and established a philosophical direction in which genetics played no significant role, being regarded as dangerous in light of Nazi medical atrocities. After all, medical scientists in Nazi Germany had been among the social protagonists of racial hygiene which, under the aegis of Nazi philosophies, replaced medical genetics as the basis for the ideals and application of eugenics.}, }
@article {pmid27385352, year = {2016}, author = {Ben-Shaul, A and Knobler, CM and Liu, AJ}, title = {William M. Gelbart: An Appreciation.}, journal = {The journal of physical chemistry. B}, volume = {120}, number = {26}, pages = {5787-5788}, doi = {10.1021/acs.jpcb.6b03856}, pmid = {27385352}, issn = {1520-5207}, mesh = {*Chemistry, Physical/history ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Biology/history ; United States ; Workforce ; }, }
@article {pmid27385113, year = {2016}, author = {Ginnobili, S}, title = {Missing concepts in natural selection theory reconstructions.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {3}, pages = {8}, doi = {10.1007/s40656-016-0109-y}, pmid = {27385113}, issn = {0391-9714}, mesh = {Biology/*history ; *Genetic Fitness ; Genetics, Population/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Models, Biological ; *Selection, Genetic ; }, abstract = {The concept of fitness has generated a lot of discussion in philosophy of biology. There is, however, relative agreement about the need to distinguish at least two uses of the term: ecological fitness on the one hand, and population genetics fitness on the other. The goal of this paper is to give an explication of the concept of ecological fitness by providing a reconstruction of the theory of natural selection in which this concept was framed, that is, based on the way the theory was put to use in Darwin's main texts. I will contend that this reconstruction enables us to account for the current use of the theory of natural selection. The framework presupposed in the analysis will be that of metatheoretical structuralism. This framework will provide both a better understanding of the nature of ecological fitness and a more complete reconstruction of the theory. In particular, it will provide what I think is a better way of understanding how the concept of fitness is applied through heterogeneous cases. One of the major advantages of my way of thinking about natural selection theory is that it would not have the peculiar metatheoretical status that it has in other available views. I will argue that in order to achieve these goals it is necessary to make several concepts explicit, concepts that are frequently omitted in usual reconstructions.}, }
@article {pmid27384024, year = {2016}, author = {Dove, WF}, title = {Weaving a Tapestry from Threads Spun by Geneticists: The Series Perspectives on Genetics, 1987-2008.}, journal = {Genetics}, volume = {203}, number = {3}, pages = {1011-1022}, pmid = {27384024}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; *Peer Review, Research ; United States ; }, abstract = {The Perspectives column was initiated in 1987 when Jan Drake, Editor-in-Chief of GENETICS, invited Jim Crow and William Dove to serve as coeditors of "Anecdotal, Historical, and Critical Commentaries." As the series evolved over 21 years, under the guidance of Crow and Dove, the input of stories told by geneticists from many countries created a panorama of 20th-century genetics. Three recurrent themes are visible: how geneticists have created the science (as solitary investigators, in pairs, or in cooperative groups); how geneticists work hard, but find ways to have fun; and how public and private institutions have sustained the science of genetics, particularly in the United States. This article ends by considering how the Perspectives series and other communication formats can carry forward the core science of genetics from the 20th into the 21st century.}, }
@article {pmid27381888, year = {2016}, author = {Kovarova, H and Gadher, SJ}, title = {Tribute to Michael Dunn for his dedication and contribution to proteomics and stem cell focus.}, journal = {Proteomics}, volume = {16}, number = {22}, pages = {2840-2841}, doi = {10.1002/pmic.201600040}, pmid = {27381888}, issn = {1615-9861}, mesh = {Europe, Eastern ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Periodicals as Topic ; *Proteomics/history/organization &amp; administration ; Societies, Scientific ; *Stem Cell Research ; United Kingdom ; }, }
@article {pmid27371602, year = {2016}, author = {Louis, EJ}, title = {Historical Evolution of Laboratory Strains of Saccharomyces cerevisiae.}, journal = {Cold Spring Harbor protocols}, volume = {2016}, number = {7}, pages = {}, doi = {10.1101/pdb.top077750}, pmid = {27371602}, issn = {1559-6095}, mesh = {*Evolution, Molecular ; Genetics, Microbial/history/*methods ; History, 20th Century ; History, 21st Century ; Microbiological Techniques/history/*methods ; Molecular Biology/history/*methods ; Saccharomyces cerevisiae/*genetics ; }, abstract = {Budding yeast strains used in the laboratory have had a checkered past. Historically, the choice of strain for any particular experiment depended on the suitability of the strain for the topic of study (e.g., cell cycle vs. meiosis). Many laboratory strains had poor fermentation properties and were not representative of the robust strains used for domestic purposes. Most strains were related to each other, but investigators usually had only vague notions about the extent of their relationships. Isogenicity was difficult to confirm before the advent of molecular genetic techniques. However, their ease of growth and manipulation in laboratory conditions made them "the model" model organism, and they still provided a great deal of fundamental knowledge. Indeed, more than one Nobel Prize has been won using them. Most of these strains continue to be powerful tools, and isogenic derivatives of many of them-including entire collections of deletions, overexpression constructs, and tagged gene products-are now available. Furthermore, many of these strains are now sequenced, providing intimate knowledge of their relationships. Recent collections, new isolates, and the creation of genetically tractable derivatives have expanded the available strains for experiments. But even still, these laboratory strains represent a small fraction of the diversity of yeast. The continued development of new laboratory strains will broaden the potential questions that can be posed. We are now poised to take advantage of this diversity, rather than viewing it as a detriment to controlled experiments.}, }
@article {pmid27350696, year = {2016}, author = {Arnold, ML}, title = {In memoriam: Richard (Rick) G. Harrison-benefactor for evolutionary biologists.}, journal = {Journal of genetics}, volume = {95}, number = {2}, pages = {479-480}, pmid = {27350696}, issn = {0973-7731}, mesh = {Ecology/*history ; Genetic Speciation ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; Workforce ; }, }
@article {pmid27334364, year = {2016}, author = {Matsuura, S}, title = {Obituary: a eulogy to the late Professor Tadashi Kajii (1929-2016).}, journal = {Journal of human genetics}, volume = {61}, number = {8}, pages = {677}, doi = {10.1038/jhg.2016.77}, pmid = {27334364}, issn = {1435-232X}, mesh = {*Famous Persons ; *Genetics, Medical/history ; History, 20th Century ; Humans ; Japan ; United States ; }, }
@article {pmid27325060, year = {2016}, author = {Paleček, P}, title = {Vítězslav Orel (1926-2015): Gregor Mendel's biographer and the rehabilitation of genetics in the Communist Bloc.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {3}, pages = {4}, doi = {10.1007/s40656-016-0104-3}, pmid = {27325060}, issn = {0391-9714}, mesh = {*Biographies as Topic ; Communism/history ; Czechoslovakia ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {At almost 90 years of age, we have lost the author of the founding historical works on Johann Gregor Mendel. Vítězslav Orel served for almost 30 years as the editor of the journal Folia Mendeliana. His work was beset by the wider problems associated with Mendel's recognition in the Communist Bloc, and by the way in which narratives of the history of science could be co-opted into the service of Cold War and post-Cold War political agendas. Orel played a key role in the organization of the Mendel symposium of 1965 in Brno, and has made a strong contribution to the rehabilitation of genetics generally, and to championing the work of Johann Gregor Mendel in particular. With Jaroslav Kříženecký, he cofounded the Mendelianum in Brno, which for decades has served as an intellectual bridge between the East and West. Orel's involvement with this institution exposed him to dangers both during and after the Cold War.}, }
@article {pmid27324306, year = {2016}, author = {}, title = {Editorial.}, journal = {Gene}, volume = {589}, number = {2}, pages = {99}, doi = {10.1016/j.gene.2016.06.002}, pmid = {27324306}, issn = {1879-0038}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27305745, year = {2016}, author = {Sagie, S and Monovich, E}, title = {[MARY LYON (1925-2014) AND THE RANDOM INACTIVATION OF CHROMOSOME X].}, journal = {Harefuah}, volume = {155}, number = {3}, pages = {140-4, 197}, pmid = {27305745}, issn = {0017-7768}, mesh = {Animals ; Female ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Mice ; Molecular Biology/history ; X Chromosome/*genetics ; X Chromosome Inactivation/*genetics ; }, abstract = {Since the beginning of the last century, genetic research has been preoccupied with the dosage compensation question: What mechanism controls equal expression of chromosome X genes between females and males? In the 1950s, many discoveries occurred in the field of cytogenetics related to the sex chromatin of female mammals. Concomitantly, genetic information accumulated with regard to expression patterns of X-linked genes in female mice and the expression effect of translocations between chromosome X and autosomes. In addition, many case reports were published about families with sex-linked diseases. The lately deceased scientist Mary F. Lyon suggested a unifying theory of these findings. In her articles "Gene action in the X-chromosome of the mouse (Mus musculus L.T in 1961, and "Sex chromatin and gene action in the mammalian X-chromosome" in 1962, she suggested that: (1) the heteropyknotic chromosome X was genetically inactivated, (2) the inactivated chromosome X could be either paternal or maternal in origin in different cells of the same animal, and (3) the inactivation occurred early in embryonic development. This theory led to an immediate breakthrough in understanding the basic mechanisms responsible for X-linked diseases and solved many unexplained case studies. Moreover, the inquiry of the mechanism of the phenomenon promoted scientific understanding of a wide range of areas in molecular biology such as DNA methylation, the silencing mechanism by XIST, histone modifications, DNA replication timing and more. The current article deals with some biographical details about Mary F. Lyon, the background of her theory, her historical articles and the development of the field since.}, }
@article {pmid27302122, year = {2016}, author = {Morgan, J}, title = {Jonathan Rosand: a classical neurologist in a modern world.}, journal = {The Lancet. Neurology}, volume = {15}, number = {6}, pages = {551}, doi = {10.1016/S1474-4422(16)00037-5}, pmid = {27302122}, issn = {1474-4465}, mesh = {Cerebrovascular Disorders/history/therapy ; History, 20th Century ; History, 21st Century ; Human Genetics/history ; Neurology/*history ; United States ; }, }
@article {pmid27289454, year = {2016}, author = {Dujon, B and Pelletier, G}, title = {Foreword.}, journal = {Comptes rendus biologies}, volume = {339}, number = {7-8}, pages = {223-224}, doi = {10.1016/j.crvi.2016.05.006}, pmid = {27289454}, issn = {1768-3238}, mesh = {DNA/chemistry/genetics/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, }
@article {pmid27281929, year = {2016}, author = {}, title = {[Ya.B. BLUME (on the occasion of the 60th anniversary of the birth)].}, journal = {TSitologiia i genetika}, volume = {50}, number = {2}, pages = {83-84}, pmid = {27281929}, issn = {0564-3783}, mesh = {Biotechnology/*history/organization &amp; administration ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/organization &amp; administration ; Plants, Genetically Modified/genetics/growth &amp; development ; Ukraine ; }, }
@article {pmid27270696, year = {2016}, author = {Fantes, PA and Hoffman, CS}, title = {A Brief History of Schizosaccharomyces pombe Research: A Perspective Over the Past 70 Years.}, journal = {Genetics}, volume = {203}, number = {2}, pages = {621-629}, pmid = {27270696}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Schizosaccharomyces/*genetics ; }, abstract = {Since its humble start as a model organism in two European laboratories in the 1940s and 1950s, the fission yeast Schizosaccharomyces pombe has grown to become one of the best-studied eukaryotes today. This article outlines the way in which interest in S. pombe developed and spread from Europe to Japan, North America, and elsewhere from its beginnings up to the first International Meeting devoted to this yeast in 1999. We describe the expansion of S. pombe research during this period with an emphasis on many of the individual researchers involved and their interactions that resulted in the development of today's vibrant community.}, }
@article {pmid27266188, year = {2016}, author = {Volkov, RA and Rudenko, SS}, title = {[WAR AND WORLD OF ERWIN CHARGAFF (DEDICATED TO 110 ANNIVERSARY OF BIRTH)].}, journal = {TSitologiia i genetika}, volume = {50}, number = {1}, pages = {80-87}, pmid = {27266188}, issn = {0564-3783}, mesh = {Ethics, Research/*history ; Europe ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Moral Obligations ; United States ; World War I ; World War II ; }, abstract = {The article shortly describes the life path of Erwin Chargaff, one of the most famous figures in the history of molecular biology and genetics. Chargaff was born in Chernivtsi (Austria-Hungary, now Ukraine) but during the First World War his family was forced to move to Vienna. After graduating from the University of Vienna, Chargaff worked in Berlin, where he studied bacterial lipids. Due to Nazis coming to power in Germany, Chargaff moved to Paris and later (1935) emigrated to the USA and obtained a position at Columbia University, where he initially investigated the role of phospholipids in blood clotting. In 1944, applying novel methods Chargaff initiated intensive investigation of the chemical composition of nucleic acids from taxonomically distant species and established two rules which were later named after him. The first Chargaff's rule provided a significant support to Watson and Crick in construction of their double helical DNA model. The explosion of atomic bombs over Hiroshima and Nagasaki forced Chargaff to think about the moral responsibility of researchers and science to mankind. He begins to raise these issues in the press and manifests himself as a talented journalist, who criticized the bureaucratization of science and its transformation into a way of earning money. Despite decades of life in America, spiritually Erwin Chargaff always remained a European, who never forgot his roots and always remembered his native land.}, }
@article {pmid27263362, year = {2016}, author = {Gayon, J}, title = {From Mendel to epigenetics: History of genetics.}, journal = {Comptes rendus biologies}, volume = {339}, number = {7-8}, pages = {225-230}, doi = {10.1016/j.crvi.2016.05.009}, pmid = {27263362}, issn = {1768-3238}, mesh = {Animals ; Epigenomics/*history/trends ; Genes ; Genetics/*history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history/trends ; Plants/genetics ; }, abstract = {The origins of genetics are to be found in Gregor Mendel's memoir on plant hybridization (1865). However, the word 'genetics' was only coined in 1906, to designate the new science of heredity. Founded upon the Mendelian method for analyzing the products of crosses, this science is distinguished by its explicit purpose of being a general 'science of heredity', and by the introduction of totally new biological concepts (in particular those of gene, genotype, and phenotype). In the 1910s, Mendelian genetics fused with the chromosomal theory of inheritance, giving rise to what is still called 'classical genetics'. Within this framework, the gene is simultaneously a unit of function and transmission, a unit of recombination, and of mutation. Until the early 1950s, these concepts of the gene coincided. But when DNA was found to be the material basis of inheritance, this congruence dissolved. Then began the venture of molecular biology, which has never stopped revealing the complexity of the way in which hereditary material functions.}, }
@article {pmid27263360, year = {2016}, author = {Weissenbach, J}, title = {The rise of genomics.}, journal = {Comptes rendus biologies}, volume = {339}, number = {7-8}, pages = {231-239}, doi = {10.1016/j.crvi.2016.05.002}, pmid = {27263360}, issn = {1768-3238}, mesh = {Animals ; Computational Biology ; DNA/genetics ; Evolution, Molecular ; Genome ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {A brief history of the development of genomics is provided. Complete sequencing of genomes of uni- and multicellular organisms is based on important progress in sequencing and bioinformatics. Evolution of these methods is ongoing and has triggered an explosion in data production and analysis. Initial analyses focused on the inventory of genes encoding proteins. Completeness and quality of gene prediction remains crucial. Genome analyses profoundly modified our views on evolution, biodiversity and contributed to the detection of new functions, yet to be fully elucidated, such as those fulfilled by non-coding RNAs. Genomics has become the basis for the study of biology and provides the molecular support for a bunch of large-scale studies, the omics.}, }
@article {pmid27263195, year = {2015}, author = {Olopade, OF}, title = {JANET DAVISON ROWLEY.}, journal = {Proceedings of the American Philosophical Society}, volume = {159}, number = {3}, pages = {355-359}, pmid = {27263195}, issn = {0003-049X}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Leukemia/*genetics ; *Translocation, Genetic ; United States ; }, }
@article {pmid27261252, year = {2016}, author = {González-Rubio, C and García-De León, FJ and Rodríguez-Estrella, R}, title = {Phylogeography of endemic Xantus' hummingbird (Hylocharis xantusii) shows a different history of vicariance in the Baja California Peninsula.}, journal = {Molecular phylogenetics and evolution}, volume = {102}, number = {}, pages = {265-277}, doi = {10.1016/j.ympev.2016.05.039}, pmid = {27261252}, issn = {1095-9513}, mesh = {Animals ; Birds/*classification/genetics ; Cytochromes b/chemistry/genetics/metabolism ; DNA, Mitochondrial/chemistry/genetics/metabolism ; *Genetic Variation ; Haplotypes ; History, Ancient ; Mexico ; NADH Dehydrogenase/chemistry/genetics/metabolism ; Phylogeny ; Phylogeography/history ; }, abstract = {Studies of phylogeographic patterns provide insight into the processes driving lineage divergence in a particular region. To identify the processes that caused phylogeographic breaks, it is necessary to use historical information and a set of appropriate molecular data to explain current patterns. To understand the influence of geological or ecological processes on the phylogeography of the only species of hummingbird endemic to the Baja California Peninsula, Hylocharis xantusii, mitochondrial DNA sequences of three concatenated genes (Cyt-b, COI and ND2; 2297bp in total) in 100 individuals were analyzed. The spatial analyses of genetic variation showed phylogeographic structure consisting of a north, central and south regions. According to estimated divergence times, two vicariant events are supported, permanent separation of the peninsula and formation of the Gulf of California at 5mya and temporary isolation of the southern region at the Isthmus of La Paz at 3mya. The temporal frame of genetic differentiation of intraspecific haplotypes indicates that 90% of haplotypes diverged within the last 500,000years, with a population expansion 80,000years ago. Only four haplotypes diverged ∼2.2 my and occurred in the south (Hxan_36, 38 and 45), and north (Hxan_45 and 56) regions; only haplotype 45 is shared between south and north populations. These regions also have the most recent haplotypes from 12,500 to 16,200years ago, and together with high levels of genetic diversity, we suggest two refuge areas, the Northern and Southern regions. Our results indicate that the phylogeographic pattern first results from vicariance processes, then is followed by historical and recent climate fluctuations that influenced conditions on the peninsula, and it is also related to oases distribution. This study presents the first investigation of phylogeography of the peninsular' endemic Xantus' hummingbird.}, }
@article {pmid27255851, year = {2016}, author = {}, title = {Strength in shoulders.}, journal = {Nature plants}, volume = {2}, number = {6}, pages = {16091}, doi = {10.1038/nplants.2016.91}, pmid = {27255851}, issn = {2055-0278}, mesh = {Botany/*history ; Genetics/*history ; *Genome, Plant ; Hevea/*genetics ; History, 20th Century ; History, 21st Century ; Petunia/*genetics ; }, }
@article {pmid27255845, year = {2016}, author = {van der Krol, AR and Immink, RG}, title = {Secrets of the world's most popular bedding plant unlocked.}, journal = {Nature plants}, volume = {2}, number = {6}, pages = {16082}, doi = {10.1038/nplants.2016.82}, pmid = {27255845}, issn = {2055-0278}, mesh = {*Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Petunia/genetics/*physiology ; *Pigmentation ; }, }
@article {pmid27246100, year = {2016}, author = {Freitas, S and Rocha, S and Campos, J and Ahmadzadeh, F and Corti, C and Sillero, N and Ilgaz, Ç and Kumlutaş, Y and Arakelyan, M and Harris, DJ and Carretero, MA}, title = {Parthenogenesis through the ice ages: A biogeographic analysis of Caucasian rock lizards (genus Darevskia).}, journal = {Molecular phylogenetics and evolution}, volume = {102}, number = {}, pages = {117-127}, doi = {10.1016/j.ympev.2016.05.035}, pmid = {27246100}, issn = {1095-9513}, mesh = {Animals ; Area Under Curve ; Cytochromes b/classification/genetics ; DNA, Mitochondrial/isolation &amp; purification/metabolism ; Haplotypes ; History, Ancient ; Hybridization, Genetic ; Lizards/classification/*genetics/metabolism ; NADH Dehydrogenase/classification/genetics ; Parthenogenesis/*genetics ; Phylogeny ; Phylogeography/history ; ROC Curve ; }, abstract = {Darevskia rock lizards include both sexual and parthenogenetic species, mostly distributed in the heterogeneous and ecologically diverse Caucasus. The parthenogenetic species originated via directional hybridogenesis, with only some of the sexual species known to serve as parentals. However, it remains unclear when and where these events happened and how many parental lineages were involved. A multilocus phylogeographic analysis was performed on the parthenogens D. unisexualis, D. bendimahiensis and D. uzzeli, and their putative maternal species D. raddei. Results show the parthenogenetic species all have relatively recent origins, approximately 200-70kyr ago, and at least three hybridization events were involved in their formation. Ecological niche models identify the region where hybridization events leading to the formation of D. unisexualis took place, namely in the northeast of the current distribution. Models also suggest that the sexual D. raddei might have undergone a habitat shift between the Last Interglacial and the Last Glacial Maximum.}, }
@article {pmid27245547, year = {2016}, author = {Hayden, M}, title = {A true mentor and pioneer in medical genetics.}, journal = {South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde}, volume = {106}, number = {6 Suppl 1}, pages = {S7-9}, doi = {10.7196/SAMJ.2016.v106i6.11022}, pmid = {27245547}, issn = {0256-9574}, mesh = {Career Choice ; Genetics, Medical/*history ; History, 20th Century ; Humans ; *Mentors ; }, }
@article {pmid27245520, year = {2016}, author = {Smart, RD and Schutte, G and Ruppelt, T and Greenberg, LJ}, title = {Cytogenetics at the University of Cape Town: A 45-year journey.}, journal = {South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde}, volume = {106}, number = {6 Suppl 1}, pages = {S29-32}, doi = {10.7196/SAMJ.2016.v106i6.10987}, pmid = {27245520}, issn = {0256-9574}, mesh = {Cytogenetic Analysis/*history ; Cytogenetics/*history ; History, 20th Century ; History, 21st Century ; Hospitals ; Humans ; Laboratories/*history ; South Africa ; Universities ; }, abstract = {This article is a brief record of the cytogenetics laboratory from its birth in 1971, under the auspices of the University of Cape Town, throughout its development within the Department of Human Genetics, under the leadership of Professor Peter Beighton, to its present position at Groote Schuur Hospital, as a multidisciplinary unit run by the National Health Laboratory Service.}, }
@article {pmid27240976, year = {2016}, author = {Tamura, K}, title = {Toward the 'new century' of handedness in biology: In commemoration of the 100th anniversary of the birth of Francis Crick.}, journal = {Journal of biosciences}, volume = {41}, number = {2}, pages = {169-170}, pmid = {27240976}, issn = {0973-7138}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid27228359, year = {2016}, author = {Singh, RS}, title = {Science beyond boundary: are premature discoveries things of the past?.}, journal = {Genome}, volume = {59}, number = {6}, pages = {433-437}, doi = {10.1139/gen-2016-0056}, pmid = {27228359}, issn = {1480-3321}, mesh = {Biological Evolution ; Biology/*history ; Genetic Research/*history ; History, 19th Century ; Humans ; Imagination ; *Knowledge Discovery ; Science/history ; }, abstract = {Mendel's name more than of any other draws our attention to the personal side in terms of success and failure in science. Mendel lived 19 years after presenting his research findings and died without receiving any recognition for his work. Are premature discoveries things of the past, you may ask? I review the material basis of science in terms of science boundary and field accessibility and analyze the possibility of premature discoveries in different fields of science such as, for example, physics and biology. I conclude that science has reached a stage where progress is being made mostly by pushing the boundary of the known from inside than by leaping across boundaries. As more researchers become engaged in science, and as more publications become open access, on-line, and interactive, the probability of an important discovery remaining buried and going unrecognized would become exceedingly small. Of course, as examples from physics show, a new theory or an important idea can always lie low, unrecognized until it becomes re-discovered and popularized by other researchers. Thus, premature discoveries will become less likely but not forbidden.}, }
@article {pmid27226047, year = {2016}, author = {Helbig, I and Heinzen, EL and Mefford, HC and , }, title = {Primer Part 1-The building blocks of epilepsy genetics.}, journal = {Epilepsia}, volume = {57}, number = {6}, pages = {861-868}, doi = {10.1111/epi.13381}, pmid = {27226047}, issn = {1528-1167}, mesh = {Epilepsy/epidemiology/*genetics/history ; Genetic Predisposition to Disease ; Genetic Variation/genetics ; History, 20th Century ; Humans ; *Molecular Epidemiology/history ; }, abstract = {This is the first of a two-part primer on the genetics of the epilepsies within the Genetic Literacy Series of the Genetics Commission of the International League Against Epilepsy. In Part 1, we cover the foundations of epilepsy genetics including genetic epidemiology and the range of genetic variants that can affect the risk for developing epilepsy. We discuss various epidemiologic study designs that have been applied to the genetics of the epilepsies including population studies, which provide compelling evidence for a strong genetic contribution in many epilepsies. We discuss genetic risk factors varying in size, frequency, inheritance pattern, effect size, and phenotypic specificity, and provide examples of how genetic risk factors within the various categories increase the risk for epilepsy. We end by highlighting trends in epilepsy genetics including the increasing use of massive parallel sequencing technologies.}, }
@article {pmid27220862, year = {2016}, author = {Miller, CR and Wichman, HA}, title = {Obituary: Paul Joyce (1958-2016).}, journal = {Biology letters}, volume = {12}, number = {5}, pages = {}, doi = {10.1098/rsbl.2016.0396}, pmid = {27220862}, issn = {1744-957X}, mesh = {*Biological Evolution ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Models, Biological ; United States ; }, }
@article {pmid27220742, year = {2016}, author = {Biesecker, BB}, title = {The Greatest Priority for Genetic Counseling: Effectively Meeting Our Clients' Needs 2014 NSGC Natalie Weissberger Paul National Achievement Award.}, journal = {Journal of genetic counseling}, volume = {25}, number = {4}, pages = {621-624}, pmid = {27220742}, issn = {1573-3599}, support = {ZIA HG200317-13//Intramural NIH HHS/United States ; }, mesh = {*Awards and Prizes ; Female ; Genetic Counseling/*history ; History, 20th Century ; History, 21st Century ; Humans ; Societies, Medical ; United States ; }, abstract = {Receipt of the 2014 Natalie Weissberger Paul (NWP) National Achievement Award was a highlight of my career. Thank you to all who nominated me for this prestigious NSGC recognition. I am humbled to join past NWP award winners many of whom are admired mentors, treasured colleagues and friends. I would like to express what a privilege it is to honor Natalie Weissberger Paul for whom this award is named. Twenty-nine years ago I co-edited a volume of the Birth Defects Original Article Series with Natalie summarizing a conference co-funded by the March of Dimes and NSGC (Biesecker et al., 1987). Natalie demonstrated her devotion to children with special needs through her work at the March of Dimes. As such I believe she would concur with the focus of my remarks on the partners in our work: our clients.}, }
@article {pmid27193642, year = {2016}, author = {Radick, G}, title = {Teach students the biology of their time.}, journal = {Nature}, volume = {533}, number = {7603}, pages = {293}, doi = {10.1038/533293a}, pmid = {27193642}, issn = {1476-4687}, mesh = {Biology/*education/history/*trends ; Curriculum/*trends ; Gene-Environment Interaction ; Genetics/education/history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humanities/education ; Humans ; Models, Genetic ; Prejudice ; Students/*psychology ; }, }
@article {pmid27191726, year = {2016}, author = {Racine, V}, title = {The mechanistic-holistic divide revisited: The case of the lac operon.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {59}, number = {}, pages = {1-10}, doi = {10.1016/j.shpsc.2016.05.001}, pmid = {27191726}, issn = {1879-2499}, mesh = {History, 20th Century ; History, 21st Century ; *Lac Operon ; *Models, Genetic ; Molecular Biology/*history ; }, abstract = {In this paper, I revisit the development of the repression model of genetic regulation in the lac operon to challenge a common application of a conceptual framework in the history of biology. I take Allen's (1978) account of the changes in the life sciences during the early and mid-twentieth century as an example of a common application of a framework based on the dichotomy between a mechanistic, or reductionist, approach to science and a holistic one. From this conceptual framework, Allen infers two general claims about the process of science and its goals: (1) that "mechanistic materialism" has often presented a more practical way to begin the study of complex phenomena in the life sciences, and (2) that the approach described as "holistic materialism" provides a more complete or accurate description of the natural world. The development of the lac operon model does not fit Allen's generalizations about scientific developments, and it can be used to cast some doubt on the scope of application of that conceptual framework. I argue that a better framework to interpret particular episodes in the history of molecular biology is to consider the ways in which biologists prioritize and track different aspects of the phenomena under study, rather than to focus on whether certain scientific practices are best described as developing from mechanistic to more holistic approaches. I end with some implications for the historiography of science by considering the appropriateness of different conceptual frameworks for different grains of resolution in the history of biology.}, }
@article {pmid27183799, year = {2016}, author = {Gubina, MA and Kulikov, IV and Babenko, VN and Chikisheva, TA and Romaschenko, AG and Voevoda, MI and Molodin, VI}, title = {[The Dynamics of the Composition of mtDNA Haplotypes of the Ancient Population of the Altai Mountains from the Early Bronze Age (3rd Millennium BC) to the Iron Age (2nd-1st Centuries BC)].}, journal = {Genetika}, volume = {52}, number = {1}, pages = {106-119}, pmid = {27183799}, issn = {0016-6758}, mesh = {DNA, Mitochondrial/*genetics ; Genetics, Population/*history ; Haplotypes ; History, Ancient ; Humans ; Kazakhstan ; Mitochondria/genetics ; *Paleontology ; Polymorphism, Genetic ; Russia ; }, abstract = {The mtDNA polymorphism in representatives of various archaeological cultures of the Developed Bronze Age, Early Scythian, and Hunnish-Sarmatian periods was analyzed (N = 34). It detected the dominance of Western-Eurasian haplotypes (70.6%) in mtDNA samples from the representatives of the ancient population of the Early Bronze Age--Iron Age on the territory of Altai Mountains. Since the 8th to the 7th centuries BC, a sharp increase was revealed in the Eastern-Eurasian haplogroups A, D, C, andZ (43.75%) as compared to previous cultures (16.7%). The presence of haplotype 223-242-290-319 of haplogroup A8 in Dolgans, Itelmens, Evens, Koryaks, and Yakuts indicates the possible long-term presence of its carriers in areas inhabited by these populations. The prevalence of Western-Eurasian haplotypes is observed not only in the Altai Mountains but also in Central Asia (Kazakhstan) and the South of the Krasnoyarsk Krai. All of the three studied samples from the Western-Eurasian haplogroups were revealed to contain U, H, T, and HV. The ubiquitous presence of haplotypes of haplogroup H and some haplogroups of cluster U (U5al, U4, U2e, and K) in the vast territory from the Yenisei River basin to the Atlantic Ocean may indicate the direction of human settlement, which most likely occurred in the Paleolithic Period from Central Asia.}, }
@article {pmid27183563, year = {2016}, author = {Strauss, BS}, title = {Biochemical Genetics and Molecular Biology: The Contributions of George Beadle and Edward Tatum.}, journal = {Genetics}, volume = {203}, number = {1}, pages = {13-20}, pmid = {27183563}, issn = {1943-2631}, mesh = {*Biochemistry/history ; Famous Persons ; *Genetics/history ; History, 20th Century ; *Molecular Biology/history ; Proteins/chemistry/genetics/metabolism ; }, }
@article {pmid27183561, year = {2016}, author = {de Koning, DJ}, title = {Meuwissen et al. on Genomic Selection.}, journal = {Genetics}, volume = {203}, number = {1}, pages = {5-7}, pmid = {27183561}, issn = {1943-2631}, mesh = {Animals ; Breeding ; Genetic Markers ; *Genetics/history ; *Genome ; History, 21st Century ; Humans ; Linkage Disequilibrium ; Quantitative Trait Loci ; Quantitative Trait, Heritable ; *Selection, Genetic ; }, }
@article {pmid27183560, year = {2016}, author = {Churchill, GA}, title = {Eric Lander and David Botstein on Mapping Quantitative Traits.}, journal = {Genetics}, volume = {203}, number = {1}, pages = {1-3}, pmid = {27183560}, issn = {1943-2631}, support = {P30 CA034196/CA/NCI NIH HHS/United States ; }, mesh = {*Chromosome Mapping ; *Genetics/history ; History, 20th Century ; *Quantitative Trait Loci ; *Quantitative Trait, Heritable ; }, }
@article {pmid27176747, year = {2016}, author = {Plebani, M and Jahnke, H}, title = {In Memoriam: Gérard Siest (1936-2016).}, journal = {Clinical chemistry and laboratory medicine}, volume = {54}, number = {7}, pages = {1115-1116}, doi = {10.1515/cclm-2016-0312}, pmid = {27176747}, issn = {1437-4331}, mesh = {Clinical Laboratory Services/*history ; France ; History, 20th Century ; History, 21st Century ; Humans ; Medical Laboratory Personnel/*history ; Molecular Biology/*history ; Pharmacology/*history ; }, }
@article {pmid27148798, year = {2016}, author = {Noon, SE and Deardorff, MA and Krantz, ID}, title = {Dr. Laird G. Jackson Festschrift.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {172}, number = {2}, pages = {72-75}, doi = {10.1002/ajmg.c.31499}, pmid = {27148798}, issn = {1552-4876}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; }, }
@article {pmid27147253, year = {2016}, author = {Motulsky, AG and King, MC}, title = {The Great Adventure of an American Human Geneticist.}, journal = {Annual review of genomics and human genetics}, volume = {17}, number = {}, pages = {1-15}, doi = {10.1146/annurev-genom-083115-022528}, pmid = {27147253}, issn = {1545-293X}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, abstract = {It is my great pleasure to have been asked by the Editorial Committee of the Annual Review of Genomics and Human Genetics to write a short autobiography of my life in genetics over the past 70 years. It has been a great adventure. I came both to America and to human genetics by a circuitous and ultimately very fortunate route. I hope the next generation of geneticists will enjoy reading about it.}, }
@article {pmid27145221, year = {2016}, author = {Howard, DJ and Grosberg, RK and Noor, MA and Normark, BB and Rand, DM and Shaw, KL and Willett, CS}, title = {In memoriam: Richard G. Harrison - his life and legacy.}, journal = {Molecular ecology}, volume = {25}, number = {11}, pages = {2333-2336}, doi = {10.1111/mec.13687}, pmid = {27145221}, issn = {1365-294X}, mesh = {Animals ; Genetics/*history ; Gryllidae/genetics ; History, 20th Century ; History, 21st Century ; *Hybridization, Genetic ; }, abstract = {Richard G. Harrison passed away unexpectedly on April 12th, 2016. In this memoriam we pay tribute to the life and legacy of an extraordinary scientist, mentor, friend, husband, and father.}, }
@article {pmid27140921, year = {2016}, author = {Amberg, DC and Burke, DJ}, title = {Classical Genetics with Saccharomyces cerevisiae.}, journal = {Cold Spring Harbor protocols}, volume = {2016}, number = {5}, pages = {}, doi = {10.1101/pdb.top077628}, pmid = {27140921}, issn = {1559-6095}, mesh = {Genetics, Microbial/*history/*methods ; History, 20th Century ; History, 21st Century ; Saccharomyces cerevisiae/*genetics ; }, abstract = {The budding yeast Saccharomyces cerevisiae is an outstanding experimental model organism that has been exploited since the early part of the twentieth century for studies in biochemistry and genetics. It has been the premiere experimental system for modern functional genomics and continues to make important contributions to many areas of biology. Here we discuss its many virtues as an organism for classical genetic research.}, }
@article {pmid27119566, year = {2016}, author = {Doetsch, PW}, title = {Robert J. Suhadolnik (1925-2016).}, journal = {Journal of interferon &amp; cytokine research : the official journal of the International Society for Interferon and Cytokine Research}, volume = {36}, number = {5}, pages = {277-278}, pmid = {27119566}, issn = {1557-7465}, mesh = {Anti-Bacterial Agents/chemistry ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Nucleosides/chemistry ; Philadelphia ; Universities ; }, }
@article {pmid27114495, year = {2016}, author = {Powell, K}, title = {Martin Jonikas: Bringing high-throughput genetics to photosynthesis.}, journal = {The Journal of cell biology}, volume = {213}, number = {2}, pages = {139-140}, pmid = {27114495}, issn = {1540-8140}, mesh = {Cell Biology/*history ; Chlamydomonas reinhardtii/genetics ; Gene Library ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mutation ; *Photosynthesis ; Protein Folding ; }, }
@article {pmid27097009, year = {2016}, author = {Teive, HA}, title = {On the centenary of the birth of Francis H. C. Crick - from physics to genetics and neuroscience.}, journal = {Arquivos de neuro-psiquiatria}, volume = {74}, number = {4}, pages = {351-353}, doi = {10.1590/0004-282X20160029}, pmid = {27097009}, issn = {1678-4227}, mesh = {Basal Ganglia/physiology ; DNA/history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; Nobel Prize ; }, abstract = {The year 2016 marks the centenary of the birth of Francis Crick (1916-2004), who made outstanding contributions to genetics and neuroscience. In 1953, in a collaborative study, Francis Crick and James Watson discovered the DNA double helix, and in 1962 they and Maurice Wilkins were awarded the Noble Prize in Physiology or Medicine. Crick subsequently became very interested in neuroscience, particularly consciousness and its relationship to the claustrum, a small gray matter structure between the insula and putamen.}, }
@article {pmid27096727, year = {2016}, author = {Valverde, KD and Eunpu, D and Harasink, SM and Koch, S and Weinblatt, VJ}, title = {Laird Jackson: Role model, mentor and friend.}, journal = {American journal of medical genetics. Part C, Seminars in medical genetics}, volume = {172}, number = {2}, pages = {80-82}, doi = {10.1002/ajmg.c.31483}, pmid = {27096727}, issn = {1552-4876}, mesh = {Genetic Counseling/organization &amp; administration ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; United States ; }, }
@article {pmid27094622, year = {2017}, author = {Xu, C and Duan, Z}, title = {The development of Chinese population genetics by Ruofu Du.}, journal = {Protein &amp; cell}, volume = {8}, number = {1}, pages = {1-3}, pmid = {27094622}, issn = {1674-8018}, mesh = {Animals ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; }, }
@article {pmid27072052, year = {2016}, author = {Mowbray, J and Stalmans, W}, title = {Professor Giorgio Semenza.}, journal = {FEBS letters}, volume = {590}, number = {7}, pages = {883-884}, doi = {10.1002/1873-3468.12150}, pmid = {27072052}, issn = {1873-3468}, mesh = {Animals ; Awards and Prizes ; Biochemistry/*history ; Biological Science Disciplines/history ; Biomedical Research/*history ; Cell Membrane/physiology ; Congresses as Topic ; Europe ; History, 20th Century ; History, 21st Century ; Humans ; Italy ; Leadership ; Molecular Medicine/*history ; Periodicals as Topic ; Switzerland ; }, }
@article {pmid27053120, year = {2016}, author = {Ewens, WJ}, title = {Motoo Kimura and James Crow on the Infinitely Many Alleles Model.}, journal = {Genetics}, volume = {202}, number = {4}, pages = {1243-1245}, pmid = {27053120}, issn = {1943-2631}, mesh = {*Alleles ; Genetic Variation ; Genetics, Population ; History, 20th Century ; *Models, Genetic ; *Molecular Biology/history ; }, }
@article {pmid27048440, year = {2016}, author = {Opitz, JM and Pavone, L and Corsello, G}, title = {The power of stories in Pediatrics and Genetics.}, journal = {Italian journal of pediatrics}, volume = {42}, number = {}, pages = {35}, pmid = {27048440}, issn = {1824-7288}, mesh = {Animals ; Books/*history ; *Child Development ; Genetics/*history ; History, 19th Century ; Humans ; Infant ; Insecta/*genetics ; Pediatrics/history ; Plants/*genetics ; United States ; }, abstract = {On the occasion of the opening ceremony of the 43rd Sicilian Congress of Pediatrics, linked with Italian Society of Pediatrics SIP, SIN, SIMEUP, SIAIP and SINP, held in Catania in November 2015, the Organizing Committee dedicated a tribute to Professor John Opitz and invited him to give a Masters Lecture for the attendees at the Congress. The theme expounded was "Storytelling in Pediatrics and Genetics: Lessons from Aesop and from Mendel". The contribution of John Opitz to the understanding of pediatric clinical disorders and genetic anomalies has been extremely relevant. The interests of Professor John Opitz are linked not only to genetic disorders but also extend to historical medicine, history of the literature and to human evolution. Due to his exceptional talent, combined with his specific interest and basal knowledge in the genetic and pediatric fields, he is widely credited to be one of the best pediatricians in the world.}, }
@article {pmid27040148, year = {2016}, author = {Tsunewaki, K}, title = {Memoir on the origin of wheat stocks used by Prof. Tetsu Sakamura, on the centennial of his discovery of the correct chromosome number and polyploidy in wheat.}, journal = {Genes &amp; genetic systems}, volume = {91}, number = {1}, pages = {41-46}, doi = {10.1266/ggs.15-00077}, pmid = {27040148}, issn = {1880-5779}, mesh = {Chromosomes, Plant/*genetics ; Genetics/*history ; Genome, Plant ; History, 20th Century ; History, 21st Century ; Polyploidy ; Triticum/*genetics ; }, abstract = {Sakamura (1918) reported the discovery of a polyploid series among eight species of the genus Triticum; this series consisted of 2x, 4x and 6x species with 2n = 14, 28 and 42 chromosomes, respectively. He mentioned in this article that all the materials he used were gifted by T. Minami of the same department of Hokkaido University, Japan. In addition to carrying out an extensive collection of cereal germplasms in the period 1914 to 1916, Minami wrote on October 7, 1915 to K. A. Flaksberger, a wheat taxonomist at the Bureau of Applied Botany, Saint Petersburg, Russia, requesting seeds of Russian wheat and other cereals. He sent Flaksberger a letter of acknowledgement for seed stocks on May 19, 1916; thus, the requested seed package must have arrived from Flaksberger at some time between October 7, 1915 and May 19, 1916. Based on the available documents, there was a considerable period of time between these seed stocks reaching Minami and Sakamura's publication of the chromosome numbers with the discovery of polyploidy. In fact, the wheat species identified by Flaksberger (1915) and those studied by Sakamura (1918) were identical except for two wild species which appeared only in Flaksberger's list. The available information supports a proposal that the wheat species used by Sakamura (1918) in his discovery of polyploidy, and later by Kihara (1924, 1930) in his genome analysis, originated from Flaksberger's collection.}, }
@article {pmid27035804, year = {2016}, author = {Jackson, S}, title = {Jean-Laurent Casanova honored with the 2016 ASCI/Stanley J. Korsmeyer Award.}, journal = {The Journal of clinical investigation}, volume = {126}, number = {4}, pages = {1137-1138}, pmid = {27035804}, issn = {1558-8238}, mesh = {Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Infection Control/history/methods ; Infections/*genetics/immunology ; }, }
@article {pmid27033066, year = {2016}, author = {Salmena, L}, title = {PTEN: History of a Tumor Suppressor.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1388}, number = {}, pages = {3-11}, doi = {10.1007/978-1-4939-3299-3_1}, pmid = {27033066}, issn = {1940-6029}, mesh = {Chromosomes, Human ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Neoplasms/*metabolism/pathology ; PTEN Phosphohydrolase/chemistry/genetics/history/*metabolism ; }, abstract = {Starting from the discovery of "inhibitory chromosomes" by Theodor Boveri to the finding by Henry Harris that fusing a normal cell to a cancer cell reduced tumorigenic potential, the notion of tumor suppression was recognized well before any tumor-suppressor genes were discovered. Although not the first to be revealed, PTEN has been demonstrated to be one of the most frequently altered tumor suppressors in cancer. This introductory chapter provides a historical perspective on our current understanding of PTEN including some of the seminal discoveries in the tumor suppressor field, the events leading to PTEN's discovery, and an introduction to some of the most important researchers and their studies which have shed light on PTEN biology and function as we know it today.}, }
@article {pmid27030029, year = {2016}, author = {}, title = {Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton.}, journal = {Human mutation}, volume = {37}, number = {6}, pages = {598-615}, doi = {10.1002/humu.22990}, pmid = {27030029}, issn = {1098-1004}, mesh = {Genetic Diseases, Inborn/genetics/*history ; Genome, Human/*genetics ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; *Mutation ; }, }
@article {pmid27027134, year = {2015}, author = {Dutta, A}, title = {Anindya Dutta.}, journal = {Current biology : CB}, volume = {25}, number = {23}, pages = {R1112-4}, doi = {10.1016/j.cub.2015.10.035}, pmid = {27027134}, issn = {1879-0445}, mesh = {Biochemistry/*history ; *Cell Proliferation ; History, 20th Century ; History, 21st Century ; India ; Molecular Biology/*history ; Neoplasms/*physiopathology ; United States ; Virginia ; }, }
@article {pmid27024983, year = {2016}, author = {Genel, M}, title = {Growth and Development of Yale's Pediatric Endocrinology Service Reflections on a Portrait's Unveiling, May 22, 2015.}, journal = {Connecticut medicine}, volume = {80}, number = {2}, pages = {113-116}, pmid = {27024983}, issn = {0010-6178}, mesh = {Biomedical Research/*history ; Connecticut ; Diabetes Mellitus/history ; Education, Medical/*history ; Endocrinology/*history ; Faculty, Medical/history ; Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Humans ; *Leadership ; Pediatrics/*history ; }, }
@article {pmid27016306, year = {2016}, author = {Passarge, E}, title = {James L. German, a pioneer in early human genetic research turned 90.}, journal = {American journal of medical genetics. Part A}, volume = {170}, number = {6}, pages = {1564-1565}, doi = {10.1002/ajmg.a.37635}, pmid = {27016306}, issn = {1552-4833}, mesh = {Bloom Syndrome/diagnosis/genetics/history ; *DNA Replication ; *Famous Persons ; *Genetic Research/history ; *Genetics, Medical/history ; History, 20th Century ; Humans ; RecQ Helicases/genetics ; United States ; }, abstract = {In the early 1960s, J. German established the non-synchronous human DNA replication pattern in metaphases of cultured lymphocytes and fibroblasts. This could be used to distinguish several chromosomes of similar morphology. From 1965 on over the next 30 years, he and his coworkers systematically studied Bloom's syndrome in depth, cumulating in the identification in 1995 of the BLM gene as encoding a DNA helicase. © 2016 Wiley Periodicals, Inc.}, }
@article {pmid27010694, year = {2016}, author = {Jager, MJ}, title = {Introducing Anneke I. den Hollander, the Recipient of the 2015 Cogan Award.}, journal = {Investigative ophthalmology &amp; visual science}, volume = {57}, number = {3}, pages = {1376-1377}, doi = {10.1167/iovs.16-19380}, pmid = {27010694}, issn = {1552-5783}, mesh = {*Awards and Prizes ; Biomedical Research/*history ; Eye Diseases/genetics/*history ; Genetics, Medical/*history ; History, 21st Century ; Humans ; Netherlands ; Ophthalmology/*history ; }, }
@article {pmid27003286, year = {2016}, author = {Sarkar, S}, title = {Haldane and Mayr: a response to Rao and Nanjundiah.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {1}, pages = {151-154}, doi = {10.1007/s40656-016-0101-6}, pmid = {27003286}, issn = {0391-9714}, mesh = {*Biological Evolution ; England ; Genetics, Population/*history ; Germany ; History, 20th Century ; India ; *Models, Biological ; United States ; }, abstract = {The discussion with Rao and Nanjundiah about the history of interactions between J. B. S. Haldane and Ernst Mayr is further extended in this note. The nature of the dispute about beanbag genetics is explicated as consisting of two separate issues, one about the role of mathematical analysis in evolutionary biology, and the other about the value of single-locus genic models.}, }
@article {pmid27000095, year = {2016}, author = {Huseynova, IM and Allakhverdiev, SI and Govindjee, }, title = {Jalal A. Aliyev (1928-2016): a great scientist, a great teacher and a great human being.}, journal = {Photosynthesis research}, volume = {128}, number = {3}, pages = {219-222}, pmid = {27000095}, issn = {1573-5079}, mesh = {Azerbaijan ; *Biochemistry/history ; Cicer/genetics/growth &amp; development ; *Genetics/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; Photosynthesis ; Research/history ; Teaching/history ; Triticum/genetics/growth &amp; development ; }, abstract = {Jalal A. Aliyev was a distinguished and respected plant biologist of our time, a great teacher, and great human being. He was a pioneer of photosynthesis research in Azerbaijan. Almost up to the end of his life, he was deeply engaged in research. His work on the productivity of wheat, and biochemistry, genetics and molecular biology of gram (chick pea) are some of his important legacies. He left us on February 1, 2016, but many around the world remember him as he was engaged in international dialog on solving global issues, and in supporting international conferences on ''Photosynthesis Research for Sustainability" in 2011 and 2013.}, }
@article {pmid26987309, year = {2016}, author = {Burn, J and Watson, M}, title = {The Human Variome Project.}, journal = {Human mutation}, volume = {37}, number = {6}, pages = {505-507}, doi = {10.1002/humu.22986}, pmid = {26987309}, issn = {1098-1004}, mesh = {Databases, Genetic ; *Genetic Variation ; History, 21st Century ; Human Genome Project/*history ; Humans ; Internet ; Phenylketonurias/genetics ; }, abstract = {The practical realization of genomics has meant a growing realization that variant interpretation is a major barrier to practical use of DNA sequence data. The late Professor Dick Cotton devoted his life to innovation in molecular genetics and was a prime mover in the international response to the need to understand the "variome." His leadership resulted in the launch first of the Human Genetic Variation Society and then, in 2006, an international agreement to launch the Human Variome Project (HVP), aimed at data integration enabled by standards and infrastructure of the databases of variants being identified in families with a range of inherited disorders. The project attracted a network of affiliates across 81 countries and earned formal recognition by UNESCO, which now hosts its biennial meetings. It has also signed a Memorandum of Understanding with the World Health Organization. Future progress will depend on longer term secure funding and integration with the efforts of the genomics community where the rapid advances in sequencing technology have enabled variant capture on a previously unimaginable scale. Efforts are underway to integrate the efforts of HVP with those of the Global Alliance for Genomics and Health to provide a lasting legacy of Dick Cotton's vision.}, }
@article {pmid26987150, year = {2015}, author = {Esparza, M and Martínez-Abadías, N and Sjøvold, T and González-José, R and Hernández, M}, title = {Comparison between Inbreeding Analyses Methodologies.}, journal = {Collegium antropologicum}, volume = {39}, number = {4}, pages = {843-846}, pmid = {26987150}, issn = {0350-6134}, mesh = {Austria ; *Consanguinity ; Ethnic Groups ; Europe ; *Genealogy and Heraldry ; Genetics, Population/*history/*methods ; History, 17th Century ; History, 18th Century ; History, 19th Century ; Humans ; *Names ; }, abstract = {Surnames are widely used in inbreeding analysis, but the validity of results has often been questioned due to the failure to comply with the prerequisites of the method. Here we analyze inbreeding in Hallstatt (Austria) between the 17th and the 19th centuries both using genealogies and surnames. The high and significant correlation of the results obtained by both methods demonstrates the validity of the use of surnames in this kind of studies. On the other hand, the inbreeding values obtained (0.24 x 10⁻³ in the genealogies analysis and 2.66 x 10⁻³ in the surnames analysis) are lower than those observed in Europe for this period and for this kind of population, demonstrating the falseness of the apparent isolation of Hallstatt's population. The temporal trend of inbreeding in both analyses does not follow the European general pattern, but shows a maximum in 1850 with a later decrease along the second half of the 19th century. This is probably due to the high migration rate that is implied by the construction of transport infrastructures around the 1870's.}, }
@article {pmid26984025, year = {2016}, author = {Sunahara, RK and Insel, PA}, title = {The Molecular Pharmacology of G Protein Signaling Then and Now: A Tribute to Alfred G. Gilman.}, journal = {Molecular pharmacology}, volume = {89}, number = {5}, pages = {585-592}, doi = {10.1124/mol.116.104216}, pmid = {26984025}, issn = {1521-0111}, support = {R01 GM083118/GM/NIGMS NIH HHS/United States ; }, mesh = {Adenylyl Cyclases/chemistry/genetics/metabolism ; Animals ; Authorship ; Biochemistry/education/*history ; Cyclic AMP/*physiology ; G-Protein-Coupled Receptor Kinases/antagonists &amp; inhibitors/chemistry/genetics/*metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Kinetics ; Leadership ; Ligands ; *Models, Biological ; Molecular Medicine/education/*history ; National Academy of Sciences, U.S. ; Nobel Prize ; Pharmacokinetics ; Pharmacology/education/*history ; *Second Messenger Systems/drug effects ; United States ; }, abstract = {The recent, unfortunate death of Alfred G. ("Al") Gilman, M.D., Ph.D., represents a sad signpost for an era spanning over 40 years in molecular pharmacology. Gilman's discoveries, influence, and persona were dominant forces in research and training in pharmacology. Here, we review the progression of ideas and knowledge that spawned early work by Gilman and collaborators (among them, one of the authors) and later efforts (including those of the other author) that have recently yielded a comprehensive and precise structural understanding of fundamental topics in pharmacology: the binding of ligands to G protein-coupled receptors (GPCRs) and the interaction of GPCRs with heterotrimeric G proteins and effector molecules. Those data provide new and important insights into the molecular basis that underlies affinity and efficacy, two of the most important features of drug action, which represent the latest chapter in the saga that Al Gilman's work helped launch.}, }
@article {pmid26983170, year = {2016}, author = {Fukushima, M}, title = {Constructing failure in big biology: The socio-technical anatomy of Japan's Protein 3000 Project.}, journal = {Social studies of science}, volume = {46}, number = {1}, pages = {7-33}, doi = {10.1177/0306312715612146}, pmid = {26983170}, issn = {0306-3127}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Japan ; Proteomics/*history/organization &amp; administration ; }, abstract = {This study focuses on the 5-year Protein 3000 Project launched in 2002, the largest biological project in Japan. The project aimed to overcome Japan's alleged failure to contribute fully to the Human Genome Project, by determining 3000 protein structures, 30 percent of the global target. Despite its achievement of this goal, the project was fiercely criticized in various sectors of society and was often branded an awkward failure. This article tries to solve the mystery of why such failure discourse was prevalent. Three explanatory factors are offered: first, because some goals were excluded during project development, there was a dynamic of failed expectations; second, structural genomics, while promoting collaboration with the international community, became an 'anti-boundary object', only the absence of which bound heterogeneous domestic actors; third, there developed an urgent sense of international competition in order to obtain patents on such structural information.}, }
@article {pmid26976476, year = {2016}, author = {Nelson, CW}, title = {Remembering Austin L. Hughes.}, journal = {Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases}, volume = {40}, number = {}, pages = {262-265}, doi = {10.1016/j.meegid.2016.02.030}, pmid = {26976476}, issn = {1567-7257}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Molecular Biology/*history ; United States ; }, }
@article {pmid26972240, year = {2016}, author = {Ball, P}, title = {Kathy Niakan: at the forefront of gene editing in embryos.}, journal = {Lancet (London, England)}, volume = {387}, number = {10022}, pages = {935}, doi = {10.1016/S0140-6736(16)00573-0}, pmid = {26972240}, issn = {1474-547X}, mesh = {Embryo Research/*history ; Genetic Research/*history ; History, 21st Century ; Humans ; United Kingdom ; United States ; }, }
@article {pmid26959755, year = {2016}, author = {}, title = {Career Profile.}, journal = {Clinical pharmacology and therapeutics}, volume = {99}, number = {4}, pages = {347-348}, doi = {10.1002/cpt.342}, pmid = {26959755}, issn = {1532-6535}, mesh = {Allopurinol/history/therapeutic use ; Biomedical Research/*history ; Gout Suppressants/history/therapeutic use ; History, 20th Century ; History, 21st Century ; Humans ; Hypoglycemic Agents/history/therapeutic use ; Leadership ; Mentors ; Metformin/history/therapeutic use ; Pharmacogenetics/education/*history ; United States ; }, }
@article {pmid26953264, year = {2016}, author = {Schimenti, JC}, title = {L. C. Dunn and Donald Charles on Quantitative Traits in the Mouse.}, journal = {Genetics}, volume = {202}, number = {3}, pages = {867-868}, pmid = {26953264}, issn = {1943-2631}, mesh = {Animals ; Genetics/*history ; Hair ; History, 20th Century ; Mice ; *Phenotype ; Pigmentation/genetics ; *Quantitative Trait, Heritable ; }, }
@article {pmid26953263, year = {2016}, author = {Barton, NH}, title = {Richard Hudson and Norman Kaplan on the Coalescent Process.}, journal = {Genetics}, volume = {202}, number = {3}, pages = {865-866}, pmid = {26953263}, issn = {1943-2631}, mesh = {Alleles ; Animals ; Drosophila melanogaster/genetics ; Genetic Drift ; Genetics, Population/*history ; History, 20th Century ; *Models, Genetic ; Population Density ; *Selection, Genetic ; }, }
@article {pmid26951691, year = {2016}, author = {Vigotti, MA and Mirabelli, D}, title = {[The 2015 Whistleblower Award to Séralini, resilient scientist].}, journal = {Epidemiologia e prevenzione}, volume = {40}, number = {1}, pages = {4-5}, doi = {10.19191/EP16.1.P004.003}, pmid = {26951691}, issn = {1120-9763}, mesh = {Antifungal Agents/history/*toxicity ; *Awards and Prizes ; Chemical Industry/history ; France ; Glycine/*analogs &amp; derivatives/history/toxicity ; History, 21st Century ; Humans ; Italy ; Molecular Biology/history ; Neoplasms/*chemically induced/genetics/history ; Pesticides/history/*toxicity ; *Research Personnel/history ; *Whistleblowing ; }, }
@article {pmid26942282, year = {2016}, author = {Scriver, CR}, title = {2015 Victor A. McKusick Leadership Award.}, journal = {American journal of human genetics}, volume = {98}, number = {3}, pages = {433-434}, doi = {10.1016/j.ajhg.2015.11.008}, pmid = {26942282}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid26942280, year = {2016}, author = {Kruglyak, L}, title = {2015 Curt Stern Award.}, journal = {American journal of human genetics}, volume = {98}, number = {3}, pages = {428-430}, pmid = {26942280}, issn = {1537-6605}, mesh = {*Awards and Prizes ; Genetics, Medical/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; Quantitative Trait Loci ; }, }
@article {pmid26942278, year = {2016}, author = {Davies, KE}, title = {2015 William Allan Award.}, journal = {American journal of human genetics}, volume = {98}, number = {3}, pages = {419-426}, pmid = {26942278}, issn = {1537-6605}, support = {MC_UU_12021/2/MRC_/Medical Research Council/United Kingdom ; MR/N010698/1/MRC_/Medical Research Council/United Kingdom ; }, mesh = {*Awards and Prizes ; Dystrophin/genetics ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Muscular Dystrophy, Duchenne/genetics ; Societies, Medical ; }, }
@article {pmid26933169, year = {2016}, author = {Sackstein, R}, title = {Fulfilling Koch's postulates in glycoscience: HCELL, GPS and translational glycobiology.}, journal = {Glycobiology}, volume = {26}, number = {6}, pages = {560-570}, pmid = {26933169}, issn = {1460-2423}, support = {P01 HL107146/HL/NHLBI NIH HHS/United States ; R01 CA121335/CA/NCI NIH HHS/United States ; R01 HL060528/HL/NHLBI NIH HHS/United States ; R01 HL073714/HL/NHLBI NIH HHS/United States ; }, mesh = {Animals ; Bone Marrow Cells/cytology/*immunology ; Cell Movement ; E-Selectin/genetics/*immunology ; Gene Expression Regulation ; Glycomics/*history/trends ; Glycosyltransferases/genetics/immunology ; Hematopoietic Stem Cells/cytology/immunology ; History, 20th Century ; History, 21st Century ; Humans ; Hyaluronan Receptors/genetics/*immunology ; Mesenchymal Stem Cells/cytology/immunology ; Protein Engineering/history/methods ; Signal Transduction ; Translational Medical Research/trends ; }, abstract = {Glycoscience-based research that is performed expressly to address medical necessity and improve patient outcomes is called "translational glycobiology". In the 19th century, Robert Koch proposed a set of postulates to rigorously establish causality in microbial pathogenesis, and these postulates can be reshaped to guide knowledge into how naturally-expressed glycoconjugates direct molecular processes critical to human well-being. Studies in the 1990s indicated that E-selectin, an endothelial lectin that binds sialofucosylated carbohydrate determinants, is constitutively expressed on marrow microvessels, and investigations in my laboratory indicated that human hematopoietic stem cells (HSCs) uniquely express high levels of a specialized glycoform of CD44 called "hematopoietic cell E-/L-selectin ligand" (HCELL) that functions as a highly potent E-selectin ligand. To assess the role of HCELL in directing HSC migration to marrow, a method called "glycosyltransferase-programmed stereosubstitution" (GPS) was developed to custom-modify CD44 glycans to enforce HCELL expression on viable cell surfaces. Human mesenchymal stem cells (MSCs) are devoid of E-selectin ligands, but GPS-based glycoengineering of CD44 on MSCs licenses homing of these cells to marrow in vivo, providing direct evidence that HCELL serves as a "bone marrow homing receptor". This review will discuss the molecular basis of cell migration in historical context, will describe the discovery of HCELL and its function as the bone marrow homing receptor, and will inform on how glycoengineering of CD44 serves as a model for adapting Koch's postulates to elucidate the key roles that glycoconjugates play in human biology and for realizing the immense impact of translational glycobiology in clinical medicine.}, }
@article {pmid26931295, year = {2016}, author = {Dans, AL and Dans, LF}, title = {Revering the irreverent.}, journal = {Journal of clinical epidemiology}, volume = {73}, number = {}, pages = {64-66}, doi = {10.1016/j.jclinepi.2016.02.013}, pmid = {26931295}, issn = {1878-5921}, mesh = {Developing Countries ; Evidence-Based Medicine/*education/history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/*education/history ; Narration/*history ; }, }
@article {pmid26931287, year = {2016}, author = {Fletcher, RH and Fletcher, SW}, title = {David Sackett was one of a kind.}, journal = {Journal of clinical epidemiology}, volume = {73}, number = {}, pages = {67-72}, doi = {10.1016/j.jclinepi.2016.02.007}, pmid = {26931287}, issn = {1878-5921}, mesh = {Evidence-Based Medicine/*education/history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Theoretical ; Molecular Epidemiology/*education/history ; }, }
@article {pmid26929383, year = {2016}, author = {Becker, A}, title = {Classic Spotlight: When Phenotypic Heterogeneity Met Carbon Catabolite Repression.}, journal = {Journal of bacteriology}, volume = {198}, number = {6}, pages = {878}, pmid = {26929383}, issn = {1098-5530}, mesh = {Bacteria/*enzymology/*genetics ; *Catabolite Repression ; *Gene Expression Regulation, Bacterial ; Genetics, Microbial/history ; *Genetics, Population ; Genotype ; History, 20th Century ; History, 21st Century ; Phenotype ; beta-Galactosidase/*biosynthesis ; }, }
@article {pmid26922058, year = {2016}, author = {Schümperli, D}, title = {Rudolf Weber (1922-2015): a driving force in the transition of developmental biology into a molecular and cellular science.}, journal = {Development genes and evolution}, volume = {226}, number = {2}, pages = {65-67}, pmid = {26922058}, issn = {1432-041X}, mesh = {Animals ; Cell Biology/history ; Developmental Biology/*history ; History, 20th Century ; History, 21st Century ; Models, Animal ; Molecular Biology/history ; Xenopus ; }, }
@article {pmid26915068, year = {2016}, author = {Rao, V and Nanjundiah, V}, title = {Ernst Mayr's interactions with J. B. S. Haldane.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {1}, pages = {138-150}, doi = {10.1007/s40656-016-0098-x}, pmid = {26915068}, issn = {0391-9714}, mesh = {*Biological Evolution ; England ; Genetics, Population/*history ; Germany ; History, 20th Century ; India ; *Models, Biological ; United States ; }, abstract = {Ernst Mayr and J. B. S. Haldane, major contributors to the 'modern synthesis' in evolutionary theory, set an example of how scientific disagreements need not come in the way of friendship. After getting acquainted, they kept discussing issues related to evolution until just before Haldane's death in 1964. Their dissimilar backgrounds meant that they adopted different approaches. A major disagreement emerged regarding the right way to look at the role of genes in evolution. Mayr felt that the elementary models of population genetics were oversimplifications and therefore inadequate for representing evolutionary processes, though he was not consistent in his attitude. Haldane, on the other hand, maintained that the mathematical treatment of simple models had an important role to play. The Mayr-Haldane interactions illustrate divergent viewpoints concerning the utility of mathematics in biology.}, }
@article {pmid26905340, year = {2016}, author = {Fallin, MD and Duggal, P and Beaty, TH}, title = {Genetic Epidemiology and Public Health: The Evolution From Theory to Technology.}, journal = {American journal of epidemiology}, volume = {183}, number = {5}, pages = {387-393}, doi = {10.1093/aje/kww001}, pmid = {26905340}, issn = {1476-6256}, mesh = {Genomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Inventions/*history ; Molecular Epidemiology/*history/methods ; Public Health/*history ; }, abstract = {Genetic epidemiology represents a hybrid of epidemiologic designs and statistical models that explicitly consider both genetic and environmental risk factors for disease. It is a relatively new field in public health; the term was first coined only 35 years ago. In this short time, the field has been through a major evolution, changing from a field driven by theory, without the technology for genetic measurement or computational capacity to apply much of the designs and methods developed, to a field driven by rapidly expanding technology in genomic measurement and computational analyses while epidemiologic theory struggles to keep up. In this commentary, we describe 4 different eras of genetic epidemiology, spanning this evolution from theory to technology, what we have learned, what we have added to the broader field of public health, and what remains to be done.}, }
@article {pmid26892990, year = {2017}, author = {Mitchell, MX}, title = {Screening Out Controversy: Human Genetics, Emerging Techniques of Diagnosis, and the Origins of the Social Issues Committee of the American Society of Human Genetics, 1964-1973.}, journal = {Journal of the history of biology}, volume = {50}, number = {2}, pages = {425-456}, pmid = {26892990}, issn = {1573-0387}, mesh = {Abortion, Induced/history ; Advisory Committees/*history ; Genetics, Medical/ethics/*history ; History, 20th Century ; Humans ; Infant, Newborn ; Neonatal Screening/history ; Phenylketonurias/diagnosis/history ; Public Policy/history ; Societies, Medical/*history ; Sociology, Medical/ethics/*history ; United States ; }, abstract = {In the years following World War II, and increasingly during the 1960s and 1970s, professional scientific societies developed internal sub-committees to address the social implications of their scientific expertise (Moore, Disrupting Science: Social Movements, American Scientists, and the Politics of the Military, 1945-1975. Princeton: Princeton University Press, 2008). This article explores the early years of one such committee, the American Society of Human Genetics' "Social Issues Committee," founded in 1967. Although the committee's name might suggest it was founded to increase the ASHG's public and policy engagement, exploration of the committee's early years reveals a more complicated reality. Affronted by legislators' recent unwillingness to seek the expert advice of human geneticists before adopting widespread neonatal screening programs for phenylketonuria (PKU), and feeling pressed to establish their relevance in an increasingly resource-scarce funding environment, committee members sought to increase the discipline's expert authority. Painfully aware of controversy over abortion rights and haunted by the taint of the discipline's eugenic past, however, the committee proceeded with great caution. Seeking to harness interest in and assert professional control over emerging techniques of genetic diagnosis, the committee strove to protect the society's image by relegating ethical and policy questions about their use to the individual consciences of member scientists. It was not until 1973, after the committee's modest success in organizing support for a retrospective public health study of PKU screening and following the legalization of abortion on demand, that the committee decided to take a more publicly engaged stance.}, }
@article {pmid26892244, year = {2016}, author = {Lindqvist, C and Roy, T and Lydersen, C and Kovacs, KM and Aars, J and Wiig, Ø and Bachmann, L}, title = {Genetic diversity of historical Atlantic walruses (Odobenus rosmarus rosmarus) from Bjørnøya and Håøya (Tusenøyane), Svalbard, Norway.}, journal = {BMC research notes}, volume = {9}, number = {}, pages = {112}, pmid = {26892244}, issn = {1756-0500}, mesh = {Animals ; Bone and Bones/chemistry ; Electron Transport Complex IV/genetics ; Female ; *Genetic Variation ; Genetics, Population/*history ; Haplotypes ; History, 20th Century ; History, 21st Century ; *Locus Control Region ; Male ; Mitochondrial Proteins/*genetics ; NADH Dehydrogenase/genetics ; *Phylogeny ; Population Density ; Svalbard ; Walruses/classification/*genetics ; }, abstract = {BACKGROUND: The population size of Atlantic walruses (Odobenus rosmarus rosmarus) is depleted relative to historical abundance levels. In Svalbard, centuries of over-exploitation brought the walrus herds to the verge of extinction, and such bottlenecks may have caused loss of genetic variation. To address this for Svalbard walruses, mitochondrial haplotypes of historical walruses from two major haul-out sites, Bjørnøya and Håøya, within the Archipelago were explored using bone samples from animals killed during the peak period of harvesting.<br><br>RESULTS: Using ancient DNA methodologies, the mitochondrial NADH dehydrogenase 1 (ND1) gene, the cytochrome c oxidase 1 (COI) gene, and the control region (CR) were targeted for 15 specimens from Bjørnøya (of which five were entirely negative) and 9 specimens from Håøya (of which one was entirely negative). While ND1 and COI sequences were obtained for only a few samples, the CR delivered the most comprehensive data set, and the average genetic distance among historic Svalbard samples was 0.0028 (SD = 0.0023).<br><br>CONCLUSIONS: The CR sequences from the historical samples appear to be nested among contemporary Atlantic walruses, and no distinct mitochondrial haplogroups were identified in the historical samples that may have been lost during the periods of extensive hunting. However, given the low sample size and poor phylogenetic resolution it cannot be excluded that such haplogroups existed.}, }
@article {pmid26875293, year = {2015}, author = {Sótonyi, G}, title = {[Participation of Hungarians in the Elaboration of Principles of Genetics and of Biotehchnology].}, journal = {Orvostorteneti kozlemenyek}, volume = {61}, number = {1-4}, pages = {125-136}, pmid = {26875293}, issn = {0010-3551}, mesh = {Animal Husbandry/*history ; Biotechnology/*history ; Europe ; Genetic Research/history ; Genetics/*history ; Genetics, Population/history ; *Heredity ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Hungary ; Mutation ; Political Systems/history ; Politics ; Publishing/history ; }, abstract = {It was in 1983 that Robert Bud, director of The Science Museum in London, made it public that the principles of biotechnology, and the term itself were first put into words by a Hungarian scientist, Károly Ereky (The use of life. A history of biotechnology. Cambridge - New York--Melbourne, Cambridge University Press, 1993). Károly Ereky stated that if raw material is used to produce consumer goods with the help of living organisms, the workflow data can be collected in biotechnology. He phrased the principles of biotechnology in his book published in German in 1919 called Biotechnology, ranking him among the world's greatest (Verlag Paul Parey, Berlin, 1919). In 1918 in Brno, three years before the birth of Mendel, count Imre Festetics formulated his theses in 4 points in his publication "Die genetische Gesetze der Natur" (Oekonomische Neuigkeiten und Verhandlungen. Brünn, 22: 169-170, 1819), using the word 'genetics' for the first time in the world. It was Vitezslav Orel, director of the Mendel Museum in Brno, who brought the attention of the world to this fact in 1989, based on the documents possessed by the Museum. The English scientist J.R. Wood published his new findings in 2001, accord- ing to which Festetics summarized his results in the form of four genetic laws well before Mendel, describing principles of the process of mutation and inheritance. Festetics provided evidence for the improvement of the stock by cross-breeding. He stated Mendel's second law on the importance of selection. He called attention to the priority of internal genetic fac- tors. Hungarians can rightly be proud of Károly Ereky (1878-1952) and count Imre Festetics (1764-1847).}, }
@article {pmid26871450, year = {2016}, author = {Simons, K}, title = {My Early Days with Ari Helenius: Detergents and Viruses.}, journal = {Traffic (Copenhagen, Denmark)}, volume = {17}, number = {4}, pages = {305-307}, doi = {10.1111/tra.12377}, pmid = {26871450}, issn = {1600-0854}, mesh = {Cell Biology/*history ; Finland ; History, 20th Century ; History, 21st Century ; Membrane Lipids/*metabolism ; Molecular Biology/*history ; Semliki forest virus/*metabolism ; United States ; }, }
@article {pmid26869482, year = {2016}, author = {Visscher, PM}, title = {Human Complex Trait Genetics in the 21st Century.}, journal = {Genetics}, volume = {202}, number = {2}, pages = {377-379}, pmid = {26869482}, issn = {1943-2631}, mesh = {Animals ; Delivery of Health Care ; *Genetics, Medical/history/trends ; *Genetics, Population/history/trends ; Genomics/history/trends ; History, 21st Century ; Humans ; Precision Medicine ; *Quantitative Trait, Heritable ; }, }
@article {pmid26869481, year = {2016}, author = {Meneely, PM}, title = {Pick Your Poisson: An Educational Primer for Luria and Delbrück's Classic Paper.}, journal = {Genetics}, volume = {202}, number = {2}, pages = {371-375}, pmid = {26869481}, issn = {1943-2631}, mesh = {Escherichia coli/*genetics ; *Genetics/history ; History, 20th Century ; Humans ; Immunity/genetics ; *Models, Genetic ; *Mutation ; Mutation Rate ; Poisson Distribution ; }, abstract = {The origin of beneficial mutations is fundamentally important in understanding the processes by which natural selection works. Using phage-resistant mutants in Escherichia coli as their model for identifying the origin of beneficial mutations, Luria and Delbrück distinguished between two different hypotheses. Under the first hypothesis, which they termed "acquired immunity," the phages induced bacteria to mutate to immunity; this predicts that none of the resistant mutants were present before infection by the phages. Under the second hypothesis, termed "mutation to immunity," resistant bacteria arose from random mutations independent of the presence of the phages; this predicts that resistant bacteria were present in the population before infection by the phages. These two hypotheses could be distinguished by calculating the frequencies at which resistant mutants arose in separate cultures infected at the same time and comparing these frequencies to the theoretical results under each model. The data clearly show that mutations arise at a frequency that is independent of the presence of the phages. By inference, natural selection reveals the genetic variation that is present in a population rather than inducing or causing this variation.}, }
@article {pmid26869480, year = {2016}, author = {Gelling, C}, title = {Hermann Muller on Measuring Mutation Rates.}, journal = {Genetics}, volume = {202}, number = {2}, pages = {369-370}, pmid = {26869480}, issn = {1943-2631}, mesh = {*Genetics/history ; History, 20th Century ; Humans ; *Mutation Rate ; Nobel Prize ; }, }
@article {pmid26869479, year = {2016}, author = {Murray, A}, title = {Salvador Luria and Max Delbrück on Random Mutation and Fluctuation Tests.}, journal = {Genetics}, volume = {202}, number = {2}, pages = {367-368}, pmid = {26869479}, issn = {1943-2631}, mesh = {*Evolution, Molecular ; *Genetics/history ; History, 20th Century ; *Mutation ; Nobel Prize ; }, }
@article {pmid26869464, year = {2017}, author = {Singleton, R and Singleton, DR}, title = {Remembering Our Forebears: Albert Jan Kluyver and the Unity of Life.}, journal = {Journal of the history of biology}, volume = {50}, number = {1}, pages = {169-218}, pmid = {26869464}, issn = {1573-0387}, mesh = {Biochemistry/history ; History, 20th Century ; Microbiology/education/*history ; Molecular Biology/history ; Netherlands ; }, abstract = {The Dutch microbiologist/biochemist Albert Jan Kluyver (1888-1956) was an early proponent of the idea of biochemical unity, and how that concept might be demonstrated through the careful study of microbial life. The fundamental relatedness of living systems is an obvious correlate of the theory of evolution, and modern attempts to construct phylogenetic schemes support this relatedness through comparison of genomes. The approach of Kluyver and his scientific descendants predated the tools of modern molecular biology by decades. Kluyver himself is poorly recognized today, yet his influence at the time was profound. Through lens of today however, it has been argued that the focus by Kluyver and others to create taxonomic and phylogenetic schemes using morphology and biochemistry distorted and hindered progress of the discipline of microbiology, because of a perception that the older approaches focused too much on a reductionist worldview. This essay argues that in contrast the careful characterization of fundamental microbial metabolism and physiology by Kluyver made many of the advances of the latter part of the twentieth century possible, by offering a framework which in many respects anticipated our current view of phylogeny, and by directly and indirectly training a generation of scientists who became leaders in the explosive growth of biotechnology.}, }
@article {pmid26869463, year = {2016}, author = {Kleinman, K}, title = {"Bringing Taxonomy to the Service of Genetics": Edgar Anderson and Introgressive Hybridization.}, journal = {Journal of the history of biology}, volume = {49}, number = {4}, pages = {603-624}, pmid = {26869463}, issn = {1573-0387}, mesh = {Botany/*history ; Classification ; Genetic Linkage ; Genetics/*history ; Genetics, Population ; History, 20th Century ; *Hybridization, Genetic ; Plants/classification/genetics ; Selection, Genetic ; United States ; }, abstract = {In introgressive hybridization (the repeated backcrossing of hybrids with parental populations), Edgar Anderson found a source for variation upon which natural selection could work. In his 1953 review article "Introgressive Hybridization," he asserted that he was "bringing taxonomy to the service of genetics" whereas distinguished colleagues such as Theodosius Dobzhansky and Ernst Mayr did the precise opposite. His work as a geneticist particularly focused on linkage and recombination and was enriched by collaborations with Missouri Botanical Garden colleagues interested in taxonomy as well as with cytologists C.D. Darlington and Karl Sax. As the culmination of a biosystemtatic research program, Anderson's views challenged the mainstream of the Evolutionary Synthesis.}, }
@article {pmid26857664, year = {2016}, author = {Fimmel, E and Strüngmann, L}, title = {Yury Borisovich Rumer and his 'biological papers' on the genetic code.}, journal = {Philosophical transactions. Series A, Mathematical, physical, and engineering sciences}, volume = {374}, number = {2063}, pages = {}, doi = {10.1098/rsta.2015.0228}, pmid = {26857664}, issn = {1364-503X}, mesh = {Genetic Code/*genetics ; Genetics/*history ; History, 20th Century ; Models, Genetic ; *Publications ; }, abstract = {Yury Borisovich Rumer was one of the most important theoretical physicists of the former Soviet Union in the early 1930s. However, he also wrote a few 'biological papers' on the standard genetic code after he read Crick's and Nirenberg's pioneering papers on the topic. Rumer's articles on the 'Systematization of Codons in the Genetic Code' (Rumer 1966 Doklady Akademii nauk SSSR 167, 1393-1394); Rumer 1968 Doklady Akademii nauk SSSR 183, 225-226; Rumer 1969 Doklady Akademii nauk SSSR 187, 937-938, where he suggested the idea of partitioning codons depending on their redundancy-the first mention of symmetry in the genetic code-were published in Russian only. Due to their importance and their frequent citation, we here present translations of these articles into English in order to make them accessible to a broader community.}, }
@article {pmid26850620, year = {2016}, author = {Mounolou, JC}, title = {[In the beginning was the Word].}, journal = {Medecine sciences : M/S}, volume = {32}, number = {1}, pages = {125-126}, doi = {10.1051/medsci/20163201022}, pmid = {26850620}, issn = {1958-5381}, mesh = {*DNA/analysis/history ; Genetic Code/*physiology ; Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Publications ; *Religion and Science ; Terminology as Topic ; }, }
@article {pmid26850619, year = {2016}, author = {Miné-Hattab, J}, title = {[Lasker award 2015: spotlight on DNA repair].}, journal = {Medecine sciences : M/S}, volume = {32}, number = {1}, pages = {123-124}, doi = {10.1051/medsci/20163201021}, pmid = {26850619}, issn = {1958-5381}, mesh = {*Awards and Prizes ; *DNA Repair ; Genetics/*history ; History, 21st Century ; Humans ; Massachusetts ; New Jersey ; Radiobiology/*history ; SOS Response, Genetics/physiology/radiation effects ; }, }
@article {pmid26850617, year = {2016}, author = {Jordan, B}, title = {[A Nobel Prize for DNA repair].}, journal = {Medecine sciences : M/S}, volume = {32}, number = {1}, pages = {117-119}, doi = {10.1051/medsci/20163201019}, pmid = {26850617}, issn = {1958-5381}, mesh = {*DNA Repair ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; New Mexico ; *Nobel Prize ; Sweden ; Turkey ; }, abstract = {This year's Nobel Prize for chemistry recognizes the seminal contributions of three researchers who discovered the existence and the basic mechanisms of DNA repair: base excision repair, mismatch repair, and nucleotide excision repair. They have since been joined by many scientists elucidating diverse aspects of these complex mechanisms that now constitute a thriving research field with many applications, notably for understanding oncogenesis and devising more effective therapies.}, }
@article {pmid26850308, year = {2016}, author = {Buc, H}, title = {François Jacob, André Lwoff and Jacques Monod, fifty years after the Nobel Prize.}, journal = {Research in microbiology}, volume = {167}, number = {3}, pages = {155-158}, doi = {10.1016/j.resmic.2016.01.005}, pmid = {26850308}, issn = {1769-7123}, mesh = {Anniversaries and Special Events ; Biomedical Research/history/trends ; *Gene Expression Regulation ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history/*trends ; Nobel Prize ; }, }
@article {pmid26850130, year = {2016}, author = {Dutta, UR}, title = {The history of human cytogenetics in India-A review.}, journal = {Gene}, volume = {589}, number = {2}, pages = {112-117}, doi = {10.1016/j.gene.2016.01.052}, pmid = {26850130}, issn = {1879-0038}, mesh = {Chromosome Aberrations/*classification ; Chromosomes, Human/chemistry/*ultrastructure ; Comparative Genomic Hybridization/history/methods ; Cytogenetics/*history/methods ; Diagnostic Services/*history/organization &amp; administration ; High-Throughput Nucleotide Sequencing/history/methods ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; In Situ Hybridization, Fluorescence/history/methods ; India ; Karyotyping/history/methods ; }, abstract = {It is 60years since the discovery of the correct number of chromosomes in 1956; the field of cytogenetics had evolved. The late evolution of this field with respect to other fields is primarily due to the underdevelopment of lenses and imaging techniques. With the advent of the new technologies, especially automation and evolution of advanced compound microscopes, cytogenetics drastically leaped further to greater heights. This review describes the historic events that had led to the development of human cytogenetics with a special attention about the history of cytogenetics in India, its present status, and future. Apparently, this review provides a brief account into the insights of the early laboratory establishments, funding, and the German collaborations. The details of the Indian cytogeneticists establishing their labs, promoting the field, and offering the chromosomal diagnostic services are described. The detailed study of chromosomes helps in increasing the knowledge of the chromosome structure and function. The delineation of the chromosomal rearrangements using cytogenetics and molecular cytogenetic techniques pays way in identifying the molecular mechanisms involved in the chromosomal rearrangement. Although molecular cytogenetics is greatly developing, the conventional cytogenetics still remains the gold standard in the diagnosis of various numerical chromosomal aberrations and a few structural aberrations. The history of cytogenetics and its importance even in the era of molecular cytogenetics are discussed.}, }
@article {pmid26849117, year = {2016}, author = {Ayub, Q and Mezzavilla, M and Pagani, L and Haber, M and Mohyuddin, A and Khaliq, S and Mehdi, SQ and Tyler-Smith, C}, title = {Response to Hellenthal et al.}, journal = {American journal of human genetics}, volume = {98}, number = {2}, pages = {398}, pmid = {26849117}, issn = {1537-6605}, mesh = {Chromosomes, Human, Y/*genetics ; DNA, Mitochondrial/*genetics ; *Genetic Drift ; Genetics, Population/*history ; Humans ; Male ; }, }
@article {pmid26849116, year = {2016}, author = {Hellenthal, G and Falush, D and Myers, S and Reich, D and Busby, GB and Lipson, M and Capelli, C and Patterson, N}, title = {The Kalash Genetic Isolate? The Evidence for Recent Admixture.}, journal = {American journal of human genetics}, volume = {98}, number = {2}, pages = {396-397}, pmid = {26849116}, issn = {1537-6605}, support = {098386//Wellcome Trust/United Kingdom ; MR/M501608/1//Medical Research Council/United Kingdom ; }, mesh = {Chromosomes, Human, Y/*genetics ; DNA, Mitochondrial/*genetics ; *Genetic Drift ; Genetics, Population/*history ; Humans ; Male ; }, }
@article {pmid26839290, year = {2018}, author = {Raff, HB}, title = {Julian Lewis (1946-2014): A 'serious hero'.}, journal = {Journal of medical biography}, volume = {26}, number = {1}, pages = {33-37}, doi = {10.1177/0967772016629012}, pmid = {26839290}, issn = {1758-1087}, mesh = {Cell Biology/*history ; Cell Communication ; England ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; }, abstract = {Julian Lewis was a gifted medical researcher and writer. His early background was the Classics; then Physics and Math; finally, Molecular Cell Biology. He worked on important questions in early embryonic patterning and the cell communication system, and so cancer research, at King's College London, the Imperial Cancer Research Fund Oxford, and finally, Cancer Research UK London. He was a lifelong coauthor of the international textbook Molecular Biology of the Cell. His final personal battle with cancer was brave and not hidden. Awards included the Waddington Medal, a European Molecular Biology Organization membership, and a Fellowship of the Royal Society.}, }
@article {pmid26838313, year = {2016}, author = {Patterson, K}, title = {Gerald W. Dorn II: Thinker, Teacher, Tinkerer.}, journal = {Circulation research}, volume = {118}, number = {2}, pages = {199-202}, doi = {10.1161/CIRCRESAHA.115.308213}, pmid = {26838313}, issn = {1524-4571}, mesh = {Animals ; Biomedical Research/*history ; Cardiology/*history ; Cardiovascular Diseases/genetics/*history ; Career Choice ; History, 20th Century ; History, 21st Century ; Humans ; Mentors/history ; Molecular Biology/*history ; }, }
@article {pmid26837547, year = {2016}, author = {Majumder, PP}, title = {A Humanitarian and a Great Indian.}, journal = {Genome biology and evolution}, volume = {8}, number = {2}, pages = {467-469}, pmid = {26837547}, issn = {1759-6653}, mesh = {*Altruism ; Genetics/*history ; History, 19th Century ; History, 20th Century ; India ; United Kingdom ; }, }
@article {pmid26825396, year = {2016}, author = {Deichmann, U}, title = {Interview with Eric Davidson.}, journal = {Developmental biology}, volume = {412}, number = {2 Suppl}, pages = {S20-9}, doi = {10.1016/j.ydbio.2016.01.021}, pmid = {26825396}, issn = {1095-564X}, mesh = {Animals ; Cell Biology/*history ; Developmental Biology/*history ; Gene Regulatory Networks ; History, 20th Century ; Humans ; Molecular Biology/*history ; Sea Urchins/embryology/genetics ; }, }
@article {pmid26825394, year = {2016}, author = {Cameron, RA}, title = {My time with Eric Davidson.}, journal = {Developmental biology}, volume = {412}, number = {2 Suppl}, pages = {S30}, doi = {10.1016/j.ydbio.2016.01.022}, pmid = {26825394}, issn = {1095-564X}, mesh = {Animals ; Developmental Biology/*history ; Gene Regulatory Networks ; Genetics/*history ; History, 20th Century ; Humans ; }, }
@article {pmid26800037, year = {2016}, author = {Schwartz, MK}, title = {Recipient of the 2015 Molecular Ecology Prize: Fred Allendorf.}, journal = {Molecular ecology}, volume = {25}, number = {2}, pages = {450-453}, doi = {10.1111/mec.13503}, pmid = {26800037}, issn = {1365-294X}, mesh = {*Awards and Prizes ; Ecology/*history ; Genetics, Population/*history ; History, 21st Century ; }, }
@article {pmid26787897, year = {2016}, author = {Berk, AJ}, title = {Discovery of RNA splicing and genes in pieces.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {113}, number = {4}, pages = {801-805}, pmid = {26787897}, issn = {1091-6490}, mesh = {Adenoviruses, Human/*genetics ; Animals ; Capsid Proteins/genetics ; DNA, Viral/genetics ; Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Mammals/genetics ; Massachusetts ; Models, Genetic ; Molecular Biology/*history ; Nucleic Acid Hybridization ; RNA Isoforms/genetics/metabolism ; RNA Precursors/genetics/metabolism ; *RNA Splicing ; RNA, Heterogeneous Nuclear/genetics/*history/metabolism ; RNA, Messenger/biosynthesis/genetics/ultrastructure ; RNA, Viral/genetics ; }, }
@article {pmid26783570, year = {2015}, author = {Erwin, DH}, title = {Eric Davidson (1937–2015).}, journal = {Current biology : CB}, volume = {25}, number = {20}, pages = {R968-9}, doi = {10.1016/j.cub.2015.09.034}, pmid = {26783570}, issn = {1879-0445}, mesh = {Animals ; California ; *Gene Expression Regulation, Developmental ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Sea Urchins/*genetics/*growth &amp; development ; }, }
@article {pmid26775433, year = {2015}, author = {de Chadarevian, S}, title = {Human population studies and the World Health Organization.}, journal = {Dynamis (Granada, Spain)}, volume = {35}, number = {2}, pages = {359-388}, doi = {10.4321/s0211-95362015000200005}, pmid = {26775433}, issn = {0211-9536}, support = {/099392/Z/12/Z//Wellcome Trust/United Kingdom ; }, mesh = {Genetics, Population/*history ; *Heredity ; History, 20th Century ; Humans ; Infant, Newborn ; International Cooperation/history ; Politics ; Population Groups/*genetics ; Radiation Protection/*history ; Research ; World Health Organization/*history ; }, abstract = {This essay draws attention to the role of the WHO in shaping research agendas in the biomedical sciences in the postwar era. It considers in particular the genetic studies of human populations that were pursued under the aegis of the WHO from the late 1950s to 1970s. The study provides insights into how human and medical genetics entered the agenda of the WHO. At the same time, the population studies become a focus for tracking changing notions of international relations, cooperation, and development and their impact on research in biology and medicine in the post-World War I era. After a brief discussion of the early history of the WHO and its position in Cold War politics, the essay considers the WHO program in radiation protection and heredity and how the genetic study of "vanishing" human populations and a world-wide genetic study of newborns fitted this broader agenda. It then considers in more detail the kind of support offered by the WHO for these projects. The essay highlights the role of single individuals in taking advantage of WHO support for pushing their research agendas while establishing a trend towards cooperative international projects in biology.}, }
@article {pmid26775432, year = {2015}, author = {Barahona, A}, title = {Transnational science and collaborative networks. The case of Genetics and Radiobiology in Mexico, 1950-1970.}, journal = {Dynamis (Granada, Spain)}, volume = {35}, number = {2}, pages = {333-358}, doi = {10.4321/s0211-95362015000200004}, pmid = {26775432}, issn = {0211-9536}, mesh = {Animals ; Cytogenetics/*history ; Drosophila/*genetics ; Genetics, Population/*history ; History, 20th Century ; Humans ; Indians, North American/*genetics ; Mexico ; Radiobiology/*history ; }, abstract = {The transnational approach of the science and technology studies (S&amp;TS) abandons the nation as a unit of analysis in order to understand the development of science history. It also abandons Euro-US-centred narratives in order to explain the role of international collaborative networks and the circulation of knowledge, people, artefacts and scientific practices. It is precisely under this perspective that the development of genetics and radiobiology in Mexico shall be analyzed, together with the pioneering work of the Mexican physician-turned-geneticist Alfonso León de Garay who spent two years in the Galton Laboratory in London under the supervision of Lionel Penrose. Upon his return de Garay funded the Genetics and Radiobiology Program of the National Commission of Nuclear Energy based on local needs and the aim of working beyond geographical limitations to thus facilitate the circulation of knowledge, practices and people. The three main lines of research conducted in the years after its foundation that were in line with international projects while responding to the national context were, first, cytogenetic studies of certain abnormalities, and the cytogenetics and anthropological studies of the Olympic Games held in Mexico in 1968; second, the study of the effects of radiation on hereditary material; and third, the study of population genetics in Drosophila and in Mexican indigenous groups. The program played a key role in reshaping the scientific careers of Mexican geneticists, and in transferring locally sourced research into broader networks. This case shows the importance of international collaborative networks and circulation in the constitution of national scientific elites, and also shows the national and transnational concerns that shaped local practices.}, }
@article {pmid26766743, year = {2016}, author = {Hinman, V}, title = {Eric Davidson (1937-2015) and the past, present and future of EvoDevo.}, journal = {Evolution &amp; development}, volume = {18}, number = {2}, pages = {67-68}, doi = {10.1111/ede.12180}, pmid = {26766743}, issn = {1525-142X}, mesh = {Biological Evolution ; California ; Developmental Biology/*history ; *Gene Expression Regulation ; Gene Regulatory Networks ; Genetics/*history ; History, 20th Century ; History, 21st Century ; RNA, Untranslated/genetics ; }, }
@article {pmid26750602, year = {2015}, author = {Morange, M}, title = {Pseudoalleles and Gene Complexes: The Search for the Elusive Link Between Genome Structure and Gene Function.}, journal = {Perspectives in biology and medicine}, volume = {58}, number = {2}, pages = {196-204}, doi = {10.1353/pbm.2015.0027}, pmid = {26750602}, issn = {1529-8795}, mesh = {*Alleles ; Animals ; Evolution, Molecular ; *Gene Expression Regulation ; *Genetic Loci ; *Genome ; Genomics/history/*methods ; History, 20th Century ; Humans ; Mice ; Models, Genetic ; Nucleic Acid Conformation ; *Pseudogenes ; Structure-Activity Relationship ; t-Complex Genome Region ; }, abstract = {After their discovery in the first decades of the 20th century, pseudo-alleles generated much interest among geneticists, because they apparently violated the conception of the genome as a collection of independent genes, a view elaborated by Thomas Morgan's group. This article focuses on two issues: the way the phenomenon of pseudoallelism suggests that the genome is more than a simple addition of independent genes, and the connection established between the formation of pseudoalleles during evolution and their functional roles. The article discusses the first explanations for the origin of pseudoalleles elaborated in the mid-1930s, the metabolic/developmental sequential model proposed by Ed Lewis in the 1950s, the disappointments encountered with the T-complex in the 1970s, and the fading of the previous models after the molecular characterization of the pseudoallelic gene complexes in the 1980s. Genomes are more than collections of genes, but their structures are the result of a complex evolutionary history that leaves no place for simplistic models.}, }
@article {pmid26750599, year = {2015}, author = {Deichmann, U}, title = {Chromatin: Its history, current research, and the seminal researchers and their philosophy.}, journal = {Perspectives in biology and medicine}, volume = {58}, number = {2}, pages = {143-164}, doi = {10.1353/pbm.2015.0024}, pmid = {26750599}, issn = {1529-8795}, mesh = {Animals ; *Biomedical Research/history/trends ; Chromatin/chemistry/*metabolism ; *Chromatin Assembly and Disassembly ; Gene Expression Regulation ; *Genetics/history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Nucleic Acid Conformation ; Protein Conformation ; }, abstract = {The concept of chromatin as a complex of nucleic acid and proteins in the cell nucleus was developed by cytologists and biochemists in the late 19th century. It was the starting point for biochemical research on DNA and nuclear proteins. Although interest in chromatin declined rapidly at the beginning of the 20th century, a few decades later a new focus on chromatin emerged, which was not only related to its structure, but also to its function in gene regulatory processes in the development of higher organisms. Since the late 20th century, research on chromatin modifications has also been conducted under the label of epigenetics. This article highlights the major phases of chromatin research until the present time and introduces major investigators and their scientific and philosophical outlooks.}, }
@article {pmid26746705, year = {2016}, author = {Fu, L}, title = {Shisan C. Chen and his research on goldfish genetics.}, journal = {Protein &amp; cell}, volume = {7}, number = {2}, pages = {79-80}, doi = {10.1007/s13238-015-0236-3}, pmid = {26746705}, issn = {1674-8018}, mesh = {Animals ; China ; Genetics/*history ; Goldfish/*genetics ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26733664, year = {2016}, author = {Ganetzky, B and Hawley, RS}, title = {The Centenary of GENETICS: Bridges to the Future.}, journal = {Genetics}, volume = {202}, number = {1}, pages = {15-23}, pmid = {26733664}, issn = {1943-2631}, mesh = {*Chromosomes ; Genetics/*history ; History, 20th Century ; Periodicals as Topic/*history ; }, }
@article {pmid26733663, year = {2016}, author = {Rosenberg, NA}, title = {Admixture Models and the Breeding Systems of H. S. Jennings: A GENETICS Connection.}, journal = {Genetics}, volume = {202}, number = {1}, pages = {9-13}, pmid = {26733663}, issn = {1943-2631}, mesh = {*Chromosomes ; Genetics/*history ; Periodicals as Topic/*history ; }, }
@article {pmid26733662, year = {2016}, author = {Coyne, JA}, title = {Theodosius Dobzhansky on Hybrid Sterility and Speciation.}, journal = {Genetics}, volume = {202}, number = {1}, pages = {5-7}, pmid = {26733662}, issn = {1943-2631}, mesh = {Animals ; Books/*history ; Female ; *Genetic Speciation ; Genetics/*history ; History, 20th Century ; Hybridization, Genetic ; Infertility ; Male ; }, }
@article {pmid26733661, year = {2016}, author = {Barton, NH}, title = {Sewall Wright on Evolution in Mendelian Populations and the "Shifting Balance".}, journal = {Genetics}, volume = {202}, number = {1}, pages = {3-4}, pmid = {26733661}, issn = {1943-2631}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Models, Biological ; }, }
@article {pmid26733660, year = {2016}, author = {Johnston, M}, title = {A New Century of GENETICS.}, journal = {Genetics}, volume = {202}, number = {1}, pages = {1-2}, pmid = {26733660}, issn = {1943-2631}, mesh = {*Genetics/history ; History, 20th Century ; Periodicals as Topic/*history ; }, }
@article {pmid26732271, year = {2017}, author = {Loison, L and Gayon, J and Burian, RM}, title = {The Contributions - and Collapse - of Lamarckian Heredity in Pasteurian Molecular Biology: 1. Lysogeny, 1900-1960.}, journal = {Journal of the history of biology}, volume = {50}, number = {1}, pages = {5-52}, pmid = {26732271}, issn = {1573-0387}, mesh = {Bacteriophages/physiology ; France ; *Heredity ; History, 20th Century ; *Lysogeny ; Molecular Biology/*history ; }, abstract = {This article shows how Lamarckism was essential in the birth of the French school of molecular biology. We argue that the concept of inheritance of acquired characters positively shaped debates surrounding bacteriophagy and lysogeny in the Pasteurian tradition during the interwar period. During this period the typical Lamarckian account of heredity treated it as the continuation of protoplasmic physiology in daughter cells. Félix d'Hérelle applied this conception to argue that there was only one species of bacteriophage and Jules Bordet applied it to develop an account of bacteriophagy as a transmissible form of autolysis and to analyze the new phenomenon of lysogeny. In a long-standing controversy with Bordet, Eugène Wollman deployed a more morphological understanding of the inheritance of acquired characters, yielding a particulate, but still Lamarckian, account of lysogeny. We then turn to André Lwoff who, with several colleagues, completed Wollman's research program from 1949 to 1953. We examine how he gradually set aside the Lamarckian background, finally removing inheritance of acquired characters from the resulting account of bacteriophagy and lysogeny. In the conclusion, we emphasize the complex dual role of Lamarckism as it moved from an assumed explanatory framework to a challenge that the nascent molecular biology had to overcome.}, }
@article {pmid26729250, year = {2016}, author = {Dunn, MJ and Kraus, HJ}, title = {PROTEOMICS: The first 15 years.}, journal = {Proteomics. Clinical applications}, volume = {10}, number = {1}, pages = {1-3}, doi = {10.1002/prca.201670013}, pmid = {26729250}, issn = {1862-8354}, mesh = {Animals ; History, 21st Century ; Humans ; Proteomics/*history ; }, }
@article {pmid26728305, year = {2016}, author = {}, title = {PROTEOMICS: The first 15 years.}, journal = {Proteomics}, volume = {16}, number = {1}, pages = {1-3}, doi = {10.1002/pmic.201670013}, pmid = {26728305}, issn = {1615-9861}, mesh = {Electrophoresis, Gel, Two-Dimensional/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history ; Proteome/analysis ; *Proteomics/history/methods ; }, }
@article {pmid29489121, year = {2016}, author = {Kaasch, M and Kaasch, J}, title = {[In process.].}, journal = {Acta historica Leopoldina}, volume = {}, number = {65}, pages = {251-282}, pmid = {29489121}, issn = {0001-5857}, mesh = {Academies and Institutes/history ; Agriculture/history ; Botany/*history ; Dissent and Disputes/*history ; Faculty/history ; Genetics/*history ; Germany, East ; History, 20th Century ; Interprofessional Relations ; Plant Breeding/*history ; Research/history ; Research Support as Topic/history ; Universities/history ; }, abstract = {Two of the most important life scientists in the GDR were the botanist, plant biochemist and pharmacist Kurt MOTHES (1900-1983) and the geneticist and plant breeder Hans STUBBE (1902-1989). Both started their successful careers during the period of NS dictatorship. MOTHES was a full professor of botany at the University of K6nigsberg from 1935 to 1945. After working at the Kaiser Wilhelm Institute for Plant Breeding Research in Mincheberg and at the Kaiser Wilhelm Institute for Biology in Berlin-Dahlem, STUBBE oversaw the establishment of a Kaiser Wilhelm Institute for Crop Plant Research near Vienna in 1943, which was moved to Stecklenberg in the Harz Mountains in 1945 and later to Gatersleben. While MOTHEs was being held as a Soviet prisoner of war from 1945 to 1949, STUBBE was able to set up his institute in Gatersleben in the eastern part of Germany and held influential positions at Martin Luther University in Halle (Saale) as a professor for genetics and as the founding dean of the Faculty of Agriculture. After his release from war captivity, MOTHES, with STUBBE'S support, was able to continue his research at STUBBE'S institute in Gatersleben as the head of the Department for Chemical Physiology. There MOTHES was offered espe- cially favourable conditions by East German standards which led him to turn down other job offers, like the position of professor of botany at the University of Leipzig which was vacant at the time. In addition, MOTHES was also of- fered teaching opportunities in the Faculty of Natural Sciences at the University of Halle, again thanks to STUBBE'S support. In 1951 STUBBE became a founding member and president of the German Academy of Agricultural Sciences at Berlin, and in 1954 MOTHEs became president of the German Academy of Sciences Leopoldina. Both were also influential members of the German Academy of Sciences at Berlin (later the GDR's Academy of Sciences). This article investigates how their collaboration developed into an ever-increasing competitiveness which came to a head as an embroiled dispute resulting from differences in scientific and scientific policy views. In the process a battle was fought over research resources so that, what was at first an apparently personal quarrel, affected the course of research promotion at an institutional level in the area of life sciences in the GDR. Despite several attempts at mediation, old age finally forced the adversaries to put aside their differences.}, }
@article {pmid26713337, year = {2015}, author = {Kalantry, S and Mueller, JL}, title = {Mary Lyon: A Tribute.}, journal = {American journal of human genetics}, volume = {97}, number = {4}, pages = {507-510}, doi = {10.1016/j.ajhg.2015.09.002}, pmid = {26713337}, issn = {1537-6605}, support = {DP2 OD008646/OD/NIH HHS/United States ; R00 HD064753/HD/NICHD NIH HHS/United States ; }, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; United Kingdom ; }, }
@article {pmid26701753, year = {2015}, author = {Alaggio, R and Coffin, CM}, title = {The Evolution of Pediatric Soft Tissue Sarcoma Classification in the Last 50 Years.}, journal = {Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society}, volume = {18}, number = {6}, pages = {481-494}, doi = {10.2350/15-07-1666-MISC.1}, pmid = {26701753}, issn = {1093-5266}, mesh = {Adolescent ; Biomarkers, Tumor/genetics ; Child ; Fibrosarcoma/classification/pathology ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Diagnostic Techniques ; Muscle Neoplasms/*classification/genetics/history/*pathology ; Muscle, Skeletal/pathology ; Nerve Sheath Neoplasms/classification/pathology ; *Pathology, Molecular/history ; *Pediatrics/history ; Sarcoma/*classification/genetics/history/*pathology ; *Terminology as Topic ; }, abstract = {This review discusses the history of the classification of soft tissue sarcomas in children and adolescents, the current transition toward integration of morphology and molecular genetics as new entities emerge, and future perspectives.}, }
@article {pmid26701384, year = {2015}, author = {Rogers, BB}, title = {The Evolution of the Polymerase Chain Reaction to Diagnose Childhood Infections.}, journal = {Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society}, volume = {18}, number = {6}, pages = {495-503}, doi = {10.2350/15-05-1643-OA.1}, pmid = {26701384}, issn = {1093-5266}, mesh = {Bacterial Infections/*diagnosis/genetics/history/microbiology ; DNA, Bacterial/*genetics ; DNA, Viral/*genetics ; Diffusion of Innovation ; Equipment Design ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Diagnostic Techniques/history/instrumentation ; Pathology, Molecular/history/*methods ; Pediatrics/history/*methods ; Polymerase Chain Reaction/history/instrumentation/*methods ; Predictive Value of Tests ; Reproducibility of Results ; Virus Diseases/*diagnosis/genetics/history/virology ; }, abstract = {Children's healthcare has evolved over the years, and the pediatric laboratory has contributed to the clinical understanding of childhood disease through the application of new technology and knowledge. This article highlights the evolution of PCR technology to aid in the diagnosis of pediatric infections, from the discovery of the PCR, through the subsequent years when the clinical need exceeded the capability of the technology, until the current day, when application of the PCR is becoming commonplace.}, }
@article {pmid26700944, year = {2016}, author = {Roberts, RM}, title = {In memoriam: Neal L. First 1930-2014.}, journal = {Biology of reproduction}, volume = {94}, number = {2}, pages = {47}, doi = {10.1095/biolreprod.115.138198}, pmid = {26700944}, issn = {1529-7268}, mesh = {Agriculture/*history ; Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Wisconsin ; }, }
@article {pmid26699626, year = {2016}, author = {Meunier, R}, title = {The many lives of experiments: Wilhelm Johannsen, selection, hybridization, and the complex relations of genes and characters.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {1}, pages = {42-64}, doi = {10.1007/s40656-015-0093-7}, pmid = {26699626}, issn = {0391-9714}, mesh = {Biological Evolution ; Fabaceae/*genetics ; Genetics/*history ; Heredity ; History, 19th Century ; History, 20th Century ; *Hybridization, Genetic ; *Selection, Genetic ; }, abstract = {In addition to his experiments on selection in pure lines, Wilhelm Johannsen (1857-1927) performed less well-known hybridisation experiments with beans. This article describes these experiments and discusses Johannsen's motivations and interpretations, in the context of developments in early genetics. I will show that Johannsen first presented the hybridisation experiments as an additional control for his selection experiments. The latter were dedicated to investigating heredity with respect to debates concerning the significance of natural selection of continuous variation for evolution. In the course of the establishment of a Mendelian research program after 1900, the study of heredity gained increasing independence from questions of evolution, and focused more on the modes and mechanisms of heredity. Further to their role as control experiments, Johannsen also saw his hybridisation experiments as contributing to the Mendelian program, by extending the scope of the principles of Mendelian inheritance to quantitative characters. Towards the end of the first decade of genetics, Johannsen revisited his experiments to illustrate the many-many relationship between genes and characters, at a time when that relationship appeared increasingly complex, and the unit-character concept, accordingly, became inadequate. For the philosophy of science, the example shows that experiments can have multiple roles in a research programme, and can be interpreted in the light of questions other than those that motivated the experiments in the first place.}, }
@article {pmid26677577, year = {2015}, author = {Kierdaszuk, B}, title = {[Role of tautomerism in the molecular mechanisms of mutagenesis].}, journal = {Postepy biochemii}, volume = {61}, number = {3}, pages = {298-304}, pmid = {26677577}, issn = {0032-5422}, mesh = {Adenine/*analogs &amp; derivatives/chemistry/history/metabolism ; *Base Pairing ; Biochemistry/*history ; Cytosine/*analogs &amp; derivatives/chemistry/history/metabolism ; DNA/chemistry/history ; DNA Damage ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Hydrogen Bonding ; Isomerism ; *Mutagenesis ; Point Mutation ; Poland ; }, abstract = {Environment of human being usually contains a high number of environmental mutagens, which may modify chemically nucleic acid bases into promutagenic analogues. Hydroxylamine (NH2OH) is a strong mutagen which modifies cytosine and adenine to N4-hydroxycytosine and N6-hydroxyadenine, respectively. Once these analogues are present in DNA or RNA, they may cause transition point mutations by the exchange between two pairs C:G and A:T into T:A and G:C, respectively. The reason for these mutations is the change of preferences between intermolecular hydrogen bonds resulting from the shift of the tautomeric equilibrium from the preferred amino form into the imino one. In the case of the aminoimino tautomeric equilibrium of N6-hydroxyadenosine, it was also shown that preferential hydrogen bonding between its imino form and cytidine, or uridine and the amino form of this base leads to the shift of the tautomeric equilibrium in favour of these tautomers in solution. N4-hydroxy-dCMP analogues exhibited very interesting inhibitory properties versus the biosynthesis of dTMP catalyzed by thymidylate synthase. These properties help to further the knowledge on the molecular mechanism of the catalytic reaction of this enzyme as well as on the role of syn-anti photoisomerization of the N4-hydroxy group in this reaction. Examinations gathered in the article were conducted from 1979 to 1985 under supervision, and afterwards from 1986 to 2004 in collaboration with professor David Shugar.}, }
@article {pmid26677572, year = {2015}, author = {Piechowska, M}, title = {[Genetic transformation and fate of heterological DNA in bacterial cells].}, journal = {Postepy biochemii}, volume = {61}, number = {3}, pages = {256-259}, pmid = {26677572}, issn = {0032-5422}, mesh = {Bacillus/genetics ; Bacteriophages/genetics ; DNA, Bacterial/*history ; Genetics/*history ; History, 20th Century ; Poland ; Streptococcus/genetics ; *Transformation, Genetic ; }, abstract = {Secretion of a metabolite enabling Streptococci to undergo genetic transformation was discovered. The metabolite combined with an optimization process were applied to increase the transformation yield about 20-fold. It was observed that large amounts of DNA exert a bactericidal effect, indicating the ability of at least 70% of cells to uptake the polymer. While studying the molecular mechanism of transformation of Bacillus subtilis it was shown that the uptaken DNA forms complexes with bacterial proteins, which hinders determination of its structure. A method was found to dissociate these complexes which enabled to determine the single-stranded structure of the uptaken DNA. Donor DNA fragments incorporated into the host DNA were of about 10 Da. Non-transforming DNA can be uptaken similarly but does not undergo incorporation into the host DNA. The selectivity of Bacillus subtilis receptors was determined towards DNA of phages containing modified bases: uracil, putrescinyl-thymine and its acetylated derivative, 5'-hydroxymethylcytosine and its glycosylated derivative and also towards double-stranded RNA of f2 phage. All these modifications were tolerated by the cellular receptors, with the exception of glycosylation and the 2'-OH group in RNA.}, }
@article {pmid26677566, year = {2015}, author = {Wierzchowski, KL}, title = {[100th Anniversary of Professor David Shugar].}, journal = {Postepy biochemii}, volume = {61}, number = {3}, pages = {234-235}, pmid = {26677566}, issn = {0032-5422}, mesh = {Anniversaries and Special Events ; Biophysics/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Poland ; }, }
@article {pmid26672357, year = {2015}, author = {Jin, C}, title = {[Glycotechnology in China].}, journal = {Sheng wu gong cheng xue bao = Chinese journal of biotechnology}, volume = {31}, number = {6}, pages = {797-804}, pmid = {26672357}, issn = {1000-3061}, mesh = {Biotechnology ; China ; Glycomics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {Glycotechnology is a new branch of biotechnology, emerged early 1990's. In this article, the international background of glycotechnology is briefly introduced and history of glycotechnology in China is reviewed.}, }
@article {pmid26671265, year = {2016}, author = {Dietrich, MR}, title = {Experimenting with sex: four approaches to the genetics of sex reversal before 1950.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {1}, pages = {23-41}, doi = {10.1007/s40656-015-0092-8}, pmid = {26671265}, issn = {0391-9714}, mesh = {Animals ; Female ; Genetics/*history ; History, 20th Century ; Male ; *Models, Biological ; *Sex Determination Processes ; }, abstract = {In the early twentieth century, Tatsuo Aida in Japan, Øjvind Winge in Denmark, Richard Goldschmidt in Germany, and Calvin Bridges in the United States all developed different experimental systems to study the genetics of sex reversal. These locally specific experimental systems grounded these experimenters' understanding of sex reversal as well as their interpretation of claims regarding experimental results and theories. The comparison of four researchers and their experimental systems reveals how those different systems mediated their understanding of genetic phenomena, and influenced their interpretations of sex reversal.}, }
@article {pmid26667849, year = {2016}, author = {Jeggo, PA and Pearl, LH and Carr, AM}, title = {DNA repair, genome stability and cancer: a historical perspective.}, journal = {Nature reviews. Cancer}, volume = {16}, number = {1}, pages = {35-42}, pmid = {26667849}, issn = {1474-1768}, support = {G1100074//Medical Research Council/United Kingdom ; C302/A14532//Cancer Research UK/United Kingdom ; }, mesh = {Animals ; DNA Repair/*physiology ; Genetic Research/*history ; Genomic Instability/*physiology ; History, 20th Century ; Humans ; Neoplasms/genetics/*history/pathology ; }, abstract = {The multistep process of cancer progresses over many years. The prevention of mutations by DNA repair pathways led to an early appreciation of a role for repair in cancer avoidance. However, the broader role of the DNA damage response (DDR) emerged more slowly. In this Timeline article, we reflect on how our understanding of the steps leading to cancer developed, focusing on the role of the DDR. We also consider how our current knowledge can be exploited for cancer therapy.}, }
@article {pmid26651239, year = {2016}, author = {Liu, Y and Li, X}, title = {Darwin and Mendel today: a comment on "Limits of imagination: the 150th Anniversary of Mendel's Laws, and why Mendel failed to see the importance of his discovery for Darwin's theory of evolution".}, journal = {Genome}, volume = {59}, number = {1}, pages = {75-77}, doi = {10.1139/gen-2015-0155}, pmid = {26651239}, issn = {1480-3321}, mesh = {*Biological Evolution ; Genetic Research/*history ; *Imagination ; *Selection, Genetic ; }, abstract = {We comment on a recent paper by Rama Singh, who concludes that Mendel deserved to be called the father of genetics, and Darwin would not have understood the significance of Mendel's paper had he read it. We argue that Darwin should have been regarded as the father of genetics not only because he was the first to formulate a unifying theory of heredity, variation, and development -- Pangenesis, but also because he clearly described almost all genetical phenomena of fundamental importance, including what he called "prepotency" and what we now call "dominance" or "Mendelian inheritance". The word "gene" evolved from Darwin's imagined "gemmules", instead of Mendel's so-called "factors".}, }
@article {pmid26632584, year = {2015}, author = {Rohwer, F and Segall, AM}, title = {In retrospect: A century of phage lessons.}, journal = {Nature}, volume = {528}, number = {7580}, pages = {46-48}, pmid = {26632584}, issn = {1476-4687}, mesh = {*Bacteriophages/genetics/immunology/pathogenicity/physiology ; CRISPR-Cas Systems/genetics ; Cyanobacteria/genetics/metabolism/virology ; Evolution, Molecular ; Gene Transfer, Horizontal/genetics ; Genome, Viral/genetics ; History, 20th Century ; History, 21st Century ; Host-Pathogen Interactions/genetics ; Humans ; Molecular Biology/*history ; Mutagenesis/genetics ; Neoplasms/genetics/pathology ; Oncogenes/genetics ; Photosynthesis ; Sequence Analysis, DNA/history ; Synthetic Biology/trends ; }, }
@article {pmid26631162, year = {2016}, author = {Friedman, B and Hughes, A}, title = {Austin L. Hughes 1949-2015.}, journal = {Immunogenetics}, volume = {68}, number = {1}, pages = {1}, pmid = {26631162}, issn = {1432-1211}, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Immunogenetics/*history ; Vertebrates/genetics/immunology ; }, }
@article {pmid26620108, year = {2015}, author = {Wharton, K}, title = {William Martin Gelbart 1945-2015.}, journal = {Nature genetics}, volume = {47}, number = {12}, pages = {1372}, doi = {10.1038/ng.3455}, pmid = {26620108}, issn = {1546-1718}, mesh = {*Awards and Prizes ; *Biomedical Research ; Genetics/*history ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, }
@article {pmid26619767, year = {2015}, author = {Métneki, J}, title = {Professor Andrew E. Czeizel, Hungary (April 3, 1935-August 10, 2015).}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {18}, number = {6}, pages = {819-822}, doi = {10.1017/thg.2015.79}, pmid = {26619767}, issn = {1832-4274}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Hungary ; }, }
@article {pmid26612012, year = {2016}, author = {Ács, N and Bánhidy, F and Sankaranarayanan, K and Merhala, Z}, title = {Obituary.}, journal = {The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians}, volume = {29}, number = {1}, pages = {169-171}, doi = {10.3109/14767058.2015.1121952}, pmid = {26612012}, issn = {1476-4954}, mesh = {Epidemiology/history ; Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Hungary ; *Registries ; Teratology/*history ; }, }
@article {pmid26606830, year = {2015}, author = {Evgen'ev, MB}, title = {[Vladimir Igorevich Mitrofanov].}, journal = {Ontogenez}, volume = {46}, number = {5}, pages = {360}, pmid = {26606830}, issn = {0475-1450}, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; Russia ; }, }
@article {pmid26605641, year = {2015}, author = {Ruggieri, M}, title = {Molecular Medicine Commemorates the Achievements of the First 20 Years.}, journal = {Molecular medicine (Cambridge, Mass.)}, volume = {21 Suppl 1}, number = {}, pages = {S1-2}, doi = {10.2119/molmed.2015.00216}, pmid = {26605641}, issn = {1528-3658}, mesh = {*Achievement ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Medicine/*history/trends ; Periodicals as Topic ; }, }
@article {pmid26582793, year = {2015}, author = {Viegas, J}, title = {QnAs with Jeannie T. Lee.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {48}, pages = {14745-14746}, pmid = {26582793}, issn = {1091-6490}, mesh = {Animals ; Female ; Gene Silencing ; Genetic Research ; Genetics/history ; Genomic Imprinting ; History, 20th Century ; Humans ; Male ; Mice ; *RNA, Long Noncoding/genetics ; X Chromosome Inactivation/*genetics ; }, }
@article {pmid26564398, year = {2016}, author = {Lockshin, RA}, title = {Programmed cell death 50 (and beyond).}, journal = {Cell death and differentiation}, volume = {23}, number = {1}, pages = {10-17}, pmid = {26564398}, issn = {1476-5403}, mesh = {Apoptosis/*genetics ; Autophagy/*genetics ; *Cellular Microenvironment ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {In the 50 years since we described cell death as 'programmed,' we have come far, thanks to the efforts of many brilliant researchers, and we now understand the mechanics, the biochemistry, and the genetics of many of the ways in which cells can die. This knowledge gives us the resources to alter the fates of many cells. However, not all cells respond similarly to the same stimulus, in either sensitivity to the stimulus or timing of the response. Cells prevented from dying through one pathway may survive, survive in a crippled state, or die following a different pathway. To fully capitalize on our knowledge of cell death, we need to understand much more about how cells are targeted to die and what aspects of the history, metabolism, or resources available to individual cells determine how each cell reaches and crosses the threshold at which it commits to death.}, }
@article {pmid26558946, year = {2015}, author = {Ribatti, D}, title = {Jacques Monod and Chance and Necessity.}, journal = {Critical reviews in eukaryotic gene expression}, volume = {25}, number = {3}, pages = {239-243}, doi = {10.1615/critreveukaryotgeneexpr.2015013929}, pmid = {26558946}, issn = {1045-4403}, mesh = {*Biological Evolution ; History, 20th Century ; Humans ; Molecular Biology/*history ; }, abstract = {Charles Darwin proposed the theory that evolution of live organisms is based on random variation and natural selection. Jacques Monod, in his classic book Chance and Necessity, published 45 years ago, presented his thesis that the biosphere does not contain a predictable class of objects or events, but constitutes a particular occurrence, compatible indeed with the first principles but not deducible from those principles. The biosphere is therefore essentially unpredictable. In his book, Monod expounded at length on the conflict between science and religion. He saw religion as a collection of primitive myths that had been blown to shreds by science. At every turn, Monod emphasized the role of chance in human existence, an idea that is antithetical to essentially every religious doctrine that places humans as some inevitable intention of a Creator.}, }
@article {pmid26548914, year = {2015}, author = {Loman, NJ and Pallen, MJ}, title = {Twenty years of bacterial genome sequencing.}, journal = {Nature reviews. Microbiology}, volume = {13}, number = {12}, pages = {787-794}, pmid = {26548914}, issn = {1740-1534}, support = {BB/E011179/1//Biotechnology and Biological Sciences Research Council/United Kingdom ; MR/J014370/1//Medical Research Council/United Kingdom ; MR/M501621/1//Medical Research Council/United Kingdom ; MR/L015080/1//Medical Research Council/United Kingdom ; }, mesh = {DNA, Bacterial/*chemistry/*genetics ; *Genome, Bacterial ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/history/methods/trends ; Molecular Typing/history/methods/trends ; Sequence Analysis, DNA/*history/*methods/trends ; }, abstract = {Twenty years ago, the publication of the first bacterial genome sequence, from Haemophilus influenzae, shook the world of bacteriology. In this Timeline, we review the first two decades of bacterial genome sequencing, which have been marked by three revolutions: whole-genome shotgun sequencing, high-throughput sequencing and single-molecule long-read sequencing. We summarize the social history of sequencing and its impact on our understanding of the biology, diversity and evolution of bacteria, while also highlighting spin-offs and translational impact in the clinic. We look forward to a 'sequencing singularity', where sequencing becomes the method of choice for as-yet unthinkable applications in bacteriology and beyond.}, }
@article {pmid26548913, year = {2015}, author = {Salmond, GP and Fineran, PC}, title = {A century of the phage: past, present and future.}, journal = {Nature reviews. Microbiology}, volume = {13}, number = {12}, pages = {777-786}, pmid = {26548913}, issn = {1740-1534}, support = {BB/G000298/1//Biotechnology and Biological Sciences Research Council/United Kingdom ; BB/H002677/1//Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Bacteria/pathogenicity/*virology ; Bacteriophages/genetics/*isolation &amp; purification/*physiology ; Biological Therapy/*history/methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history/methods/trends ; Virology/*history/methods/trends ; }, abstract = {Viruses that infect bacteria (bacteriophages; also known as phages) were discovered 100 years ago. Since then, phage research has transformed fundamental and translational biosciences. For example, phages were crucial in establishing the central dogma of molecular biology - information is sequentially passed from DNA to RNA to proteins - and they have been shown to have major roles in ecosystems, and help drive bacterial evolution and virulence. Furthermore, phage research has provided many techniques and reagents that underpin modern biology - from sequencing and genome engineering to the recent discovery and exploitation of CRISPR-Cas phage resistance systems. In this Timeline, we discuss a century of phage research and its impact on basic and applied biology.}, }
@article {pmid26544139, year = {2015}, author = {Miller, HI}, title = {Recasting Asilomar's lessons for human germline editing.}, journal = {Nature biotechnology}, volume = {33}, number = {11}, pages = {1132-1134}, pmid = {26544139}, issn = {1546-1696}, mesh = {Gene Transfer Techniques ; *Genetic Research/history/legislation &amp; jurisprudence ; *Genetic Therapy/history/legislation &amp; jurisprudence ; Germ Cells ; History, 20th Century ; Humans ; United States ; }, }
@article {pmid26540846, year = {2015}, author = {Pai-Dhungat, JV}, title = {John Gregor Mendel (1822-1884).}, journal = {The Journal of the Association of Physicians of India}, volume = {63}, number = {3}, pages = {60-61}, pmid = {26540846}, issn = {0004-5772}, mesh = {Czech Republic ; Genetics/*history ; History, 19th Century ; *Philately ; }, }
@article {pmid26526394, year = {2016}, author = {Ács, N and Bánhidy, F and Sankaranarayanan, K and Merhala, Z}, title = {Andrew E. Czeizel, 3 April 1935-10 August 2015.}, journal = {Congenital anomalies}, volume = {56}, number = {1}, pages = {4-5}, doi = {10.1111/cga.12141}, pmid = {26526394}, issn = {1741-4520}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Hungary ; }, }
@article {pmid26524588, year = {2015}, author = {Smithies, O and Neill, US}, title = {A conversation with Oliver Smithies.}, journal = {The Journal of clinical investigation}, volume = {125}, number = {11}, pages = {3997-3998}, doi = {10.1172/JCI84087}, pmid = {26524588}, issn = {1558-8238}, support = {R01 HL049277/HL/NHLBI NIH HHS/United States ; }, mesh = {Electrophoresis, Starch Gel/history ; England ; Gene Targeting/*history/methods ; History, 20th Century ; History, 21st Century ; Homologous Recombination ; Humans ; Molecular Biology/*history ; *Nobel Prize ; United States ; }, }
@article {pmid26516638, year = {2015}, author = {Haig, D}, title = {David Haig.}, journal = {Current biology : CB}, volume = {25}, number = {16}, pages = {R700-2}, doi = {10.1016/j.cub.2015.07.002}, pmid = {26516638}, issn = {1879-0445}, mesh = {Australia ; *Biological Evolution ; *Conflict, Psychological ; Ethology/*history ; Genetics, Behavioral/*history ; *Genomic Imprinting ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid26502659, year = {2015}, author = {Iida, K}, title = {A controversial idea as a cultural resource: The Lysenko controversy and discussions of genetics as a 'democratic' science in postwar Japan.}, journal = {Social studies of science}, volume = {45}, number = {4}, pages = {546-569}, doi = {10.1177/0306312715596460}, pmid = {26502659}, issn = {0306-3127}, mesh = {Democracy ; Genetics/*history ; History, 20th Century ; Japan ; Societies, Scientific/history ; USSR ; }, abstract = {The Japanese discussion of the theory of Soviet agronomist Trofim D. Lysenko began in the postwar years under the American occupation. Leftists introduced Lysenko's theory immediately after the war as part of a postwar scientists' movement. Unlike many American geneticists, who sharply criticized the theory, Japanese geneticists initially participated in the discussion in an even-handed way; their scientific interests in the roles of cytoplasm and the environment in heredity shaped their initial sympathetic reaction. As the Cold War divide deepened, however, Japanese scientists began expressing sharp anti-Lysenko criticisms that resembled the American criticisms. Interestingly, throughout the period, Japanese geneticists' overall aim in the discussion remained largely unchanged: to effectively reconstruct their discipline and maintain its proper image and authority. However, the shift in their reaction occurred due to an evolving sociopolitical context, especially the shift in the meaning of 'democratic' science from a science that employed democratic processes to a science of a liberal-democratic state. Regarding Lysenko's idea as a cultural resource could help to explain how and why it was treated differently in different places, and why a controversy emerged in certain contexts but not in others.}, }
@article {pmid26499244, year = {2015}, author = {Hood, L and Rothenberg, EV}, title = {Developmental biologist Eric H. Davidson, 1937-2015.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {44}, pages = {13423-13425}, pmid = {26499244}, issn = {1091-6490}, mesh = {Animals ; Developmental Biology/*history ; Gene Expression Regulation, Developmental ; *Gene Regulatory Networks ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Strongylocentrotus purpuratus/embryology/*genetics ; United States ; }, }
@article {pmid26486645, year = {2016}, author = {Maienschein, J}, title = {Garland Allen, Thomas Hunt Morgan, and Development.}, journal = {Journal of the history of biology}, volume = {49}, number = {4}, pages = {587-601}, pmid = {26486645}, issn = {1573-0387}, mesh = {Animals ; Biographies as Topic ; Biology/*history ; Genetics/*history ; Growth and Development ; Historiography ; History, 20th Century ; Nobel Prize ; Regeneration ; United States ; }, abstract = {Garland E. Allen's 1978 biography of the Nobel Prize winning biologist Thomas Hunt Morgan provides an excellent study of the man and his science. Allen presents Morgan as an opportunistic scientist who follows where his observations take him, leading him to his foundational work in Drosophila genetics. The book was rightfully hailed as an important achievement and it introduced generations of readers to Morgan. Yet, in hindsight, Allen's book largely misses an equally important part of Morgan's work - his study of development and regeneration. It is worth returning to this part of Morgan, exploring what Morgan contributed and also why he has been seen by contemporaries and historians such as Allen as having set aside some of the most important developmental problems. A closer look shows how Morgan's view of cells and development that was different from that of his most noted contemporaries led to interpretation of his important contributions in favor of genetics. This essay is part of a special issue, revisiting Garland Allen's views on the history of life sciences in the twentieth century.}, }
@article {pmid26471927, year = {2015}, author = {Witteveen, J}, title = {"A temporary oversimplification": Mayr, Simpson, Dobzhansky, and the origins of the typology/population dichotomy (part 1 of 2).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {54}, number = {}, pages = {20-33}, doi = {10.1016/j.shpsc.2015.09.007}, pmid = {26471927}, issn = {1879-2499}, mesh = {Biological Evolution ; Genetics/*history ; History, 20th Century ; Philosophy/*history ; }, abstract = {The dichotomy between 'typological thinking' and 'population thinking' features in a range of debates in contemporary and historical biology. The origins of this dichotomy are often traced to Ernst Mayr, who is said to have coined it in the 1950s as a rhetorical device that could be used to shield the Modern Synthesis from attacks by the opponents of population biology. In this two-part essay I argue that the origins of the typology/population dichotomy are considerably more complicated and more interesting than is commonly thought. In this first part, I will argue that Mayr's dichotomy was based on two distinct type/population contrasts that had been articulated much earlier by George Gaylord Simpson and Theodosius Dobzhansky. Their distinctions made eminent sense in their own, isolated contexts. In the second part, I will show how Mayr conflated these type/population distinctions and blended in some of his own, unrelated concerns with 'types' of a rather different sort. Although Mayr told his early critics that he was merely making "a temporary oversimplification," he ended up burdening the history and philosophy of biology with a troubled dichotomy.}, }
@article {pmid26471926, year = {2016}, author = {Witteveen, J}, title = {"A temporary oversimplification": Mayr, Simpson, Dobzhansky, and the origins of the typology/population dichotomy (part 2 of 2).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {57}, number = {}, pages = {96-105}, doi = {10.1016/j.shpsc.2015.09.006}, pmid = {26471926}, issn = {1879-2499}, mesh = {Biological Evolution ; Genetics/*history ; History, 20th Century ; Philosophy/*history ; }, abstract = {The dichotomy between 'typological thinking' and 'population thinking' features in a range of debates in contemporary and historical biology. The origins of this dichotomy are often traced to Ernst Mayr, who is said to have coined it in the 1950s as a rhetorical device that could be used to shield the Modern Synthesis from attacks by the opponents of population biology. In this two-part essay, I argue that the origins of the typology/population dichotomy are considerably more complicated and more interesting than is commonly thought. In the first part, I argued that Mayr's dichotomy was based on two distinct type/population contrasts that had been articulated much earlier by George Gaylord Simpson and Theodosius Dobzhansky. Their distinctions made eminent sense in their own, isolated contexts. In this second part, I will show how Mayr conflated these type/population distinctions and blended in some of his own, unrelated concerns with 'types' of a rather different sort. Although Mayr told his early critics that he was merely making "a temporary oversimplification," he ended up burdening the history and philosophy of biology with a troubled dichotomy.}, }
@article {pmid26471494, year = {2016}, author = {Erlingsson, SJ}, title = {"Enfant Terrible": Lancelot Hogben's Life and Work in the 1920s.}, journal = {Journal of the history of biology}, volume = {49}, number = {3}, pages = {495-526}, pmid = {26471494}, issn = {1573-0387}, mesh = {Animals ; Depressive Disorder/history ; *Environment ; Genetics/history ; *Heredity ; History, 20th Century ; Humans ; Male ; South Africa ; United Kingdom ; Zoology/*history ; }, abstract = {Until recently the British zoologist Lancelot Hogben (1895-1975) has usually appeared as a campaigning socialist, an anti-eugenicist or a popularizer of science in the literature. The focus has mainly been on Hogben after he became a professor of social biology at the London School of Economics in 1930. This paper focuses on Hogben's life in the 1920s. Early in the decade, while based in London, he focused on cytology, but in 1922, after moving to Edinburgh, he turned his focus on experimental zoology, first concentrating on vertebrate endocrinology and later moving over to the comparative physiology of invertebrate muscle. In the early 1920s Hogben played an active role in the development of experimental zoology in Britain. As such he was a fearless critic of evolutionary and metaphysical speculations. But in this period Hogben's career prospects were seriously hampered by his confrontational nature and serious depression. As a result he was forced to leave Britain in 1925. He first accepted a position in Canada and in the period 1927-1930 he was a professor of zoology in South Africa. This paper will also add crucial new material to James Tabery's recent discussion of the history behind Hogben's ideas about the interaction of heredity and environment in individual development. In addition a previously unknown Lamarckian controversy will be discussed.}, }
@article {pmid26469070, year = {2015}, author = {Gitschier, J}, title = {Your Data to Explore: An Interview with Anne Wojcicki.}, journal = {PLoS genetics}, volume = {11}, number = {10}, pages = {e1005548}, doi = {10.1371/journal.pgen.1005548}, pmid = {26469070}, issn = {1553-7404}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26463979, year = {2015}, author = {Mount, SM and Wolin, SL}, title = {Recognizing the 35th anniversary of the proposal that snRNPs are involved in splicing.}, journal = {Molecular biology of the cell}, volume = {26}, number = {20}, pages = {3557-3560}, pmid = {26463979}, issn = {1939-4586}, support = {R01 GM073863/GM/NIGMS NIH HHS/United States ; R01GM073863/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Anniversaries and Special Events ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; RNA Splicing/genetics ; RNA, Messenger/genetics ; Ribonucleoproteins, Small Nuclear/*genetics/*history ; Spliceosomes/genetics ; }, abstract = {Thirty-five years ago, as young graduate students, we had the pleasure and privilege of being in Joan Steitz's laboratory at a pivotal point in the history of RNA molecular biology. Introns had recently been discovered in the laboratories of Philip Sharp and Richard Roberts, but the machinery for removing them from mRNA precursors was entirely unknown. This Retrospective describes our hypothesis that recently discovered snRNPs functioned in pre-mRNA splicing. The proposal was proven correct, as has Joan's intuition that small RNAs provide specificity to RNA processing reactions through base pairing in diverse settings. However, research over the intervening years has revealed that both splice site selection and splicing itself are much more complex and dynamic than we imagined.}, }
@article {pmid26463495, year = {2016}, author = {Farber, PL}, title = {Dobzhansky and Montagu's Debate on Race: The Aftermath.}, journal = {Journal of the history of biology}, volume = {49}, number = {4}, pages = {625-639}, doi = {10.1007/s10739-015-9428-1}, pmid = {26463495}, issn = {1573-0387}, mesh = {Anthropology/history ; Biological Evolution ; Biological Science Disciplines/*history ; *Continental Population Groups/genetics ; Dissent and Disputes/*history ; Genomics/history ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {Dobzhansky and Montagu debated the use and validity of the term "race" over a period of decades. They failed to reach an agreement, and the "debate" has continued to the present. The ms contains an account of the debate to the present. This essay is part of a Special Issue, Revisiting Garland Allen's Views on the History of the Life Sciences in the Twentieth Century.}, }
@article {pmid26459668, year = {2016}, author = {García-Sancho, M}, title = {The proactive historian: Methodological opportunities presented by the new archives documenting genomics.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {70-82}, doi = {10.1016/j.shpsc.2015.09.005}, pmid = {26459668}, issn = {1879-2499}, mesh = {*Archives/history ; Genomics/*history ; Historiography ; History, 21st Century ; Human Genome Project/history/organization &amp; administration ; Humans ; Records ; }, abstract = {In this paper, I propose a strategy for navigating newly available archives in the study of late-twentieth century genomics. I demonstrate that the alleged 'explosion of data' characteristic of genomics-and of contemporary science in general-is not a new problem and that historians of earlier periods have dealt with information overload by relying on the 'perspective of time': the filtering effect the passage of time naturally exerts on both sources and memories. I argue that this reliance on the selective capacity of time results in inheriting archives curated by others and, consequently, poses the risk of reifying ahistorical scientific discourses. Through a preliminary examination of archives documenting early attempts at mapping and sequencing the human genome, I propose an alternative approach, in which historians proactively problematize and improve available sources. This approach provides historians with a voice in the socio-political management of scientific heritage and advances methodological innovations in the use of oral histories. It also provides a narrative framework in which to address big science initiatives by following second order administrators, rather than individual scientists. The new genomic archives thus represent an opportunity for historians to take an active role in current debates concerning 'big data' and critically embed the humanities in pressing global problems.}, }
@article {pmid26456508, year = {2016}, author = {Lindee, S}, title = {Human genetics after the bomb: Archives, clinics, proving grounds and board rooms.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {45-53}, doi = {10.1016/j.shpsc.2015.09.001}, pmid = {26456508}, issn = {1879-2499}, mesh = {Archives/*history ; Genetic Predisposition to Disease/genetics/history ; Genetics, Medical/*history ; Genomics/history ; History, 20th Century ; Humans ; Japan ; Nuclear Weapons/*history ; Radiation Injuries/genetics/history ; United States ; }, abstract = {In this paper I track the history of post-1945 human genetics and genomics emphasizing the importance of ideas about risk to the scientific study and medical management of human heredity. Drawing on my own scholarship as it is refracted through important new work by other scholars both junior and senior, I explore how radiation risk and then later disease risk mattered to the development of genetics and genomics, particularly in the United States. In this context I excavate one of the central ironies of post-war human genetics: while studies of DNA as the origin and cause of diseases have been lavishly supported by public institutions and private investment around the world, the day-to-day labor of intensive clinical innovation has played a far more important role in the actual human experience of genetic disease and genetic risk for affected families. This has implications for the archival record, where clinical interactions are less readily accessible to historians. This paper then suggests that modern genomics grew out of radiation risk; that it was and remains a risk assessment science; that it is temporally embedded as a form of both prediction and historical reconstruction; and that it has become a big business focused more on risk and prediction (which can be readily marketed) than on effective clinical intervention.}, }
@article {pmid26450889, year = {2015}, author = {Bolli, R}, title = {Editor's Preamble to the Profile of Eric Olson.}, journal = {Circulation research}, volume = {117}, number = {9}, pages = {e66}, doi = {10.1161/CIRCRESAHA.115.307564}, pmid = {26450889}, issn = {1524-4571}, mesh = {Cardiology/history ; Heart ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Muscle Development/*genetics ; Myocardium/*metabolism ; Texas ; }, }
@article {pmid26450195, year = {2015}, author = {Radick, G}, title = {HISTORY OF SCIENCE. Beyond the "Mendel-Fisher controversy".}, journal = {Science (New York, N.Y.)}, volume = {350}, number = {6257}, pages = {159-160}, doi = {10.1126/science.aab3846}, pmid = {26450195}, issn = {1095-9203}, mesh = {Breeding/*history/statistics &amp; numerical data ; Chi-Square Distribution ; Data Interpretation, Statistical ; Evaluation Studies as Topic ; Genetic Variation ; Genetics/*history/statistics &amp; numerical data ; History, 19th Century ; Peas/genetics ; Scientific Misconduct/*history/statistics &amp; numerical data ; }, }
@article {pmid26450050, year = {2015}, author = {Cameron, A}, title = {Eric H. Davidson (1937-2015).}, journal = {Nature}, volume = {526}, number = {7572}, pages = {196}, pmid = {26450050}, issn = {1476-4687}, mesh = {Animals ; Cell Differentiation/genetics ; *Gene Regulatory Networks ; History, 20th Century ; Molecular Biology/*history ; Systems Biology/*history ; United States ; }, }
@article {pmid26447131, year = {2015}, author = {Kaufman, T}, title = {In Memoriam William Martin Gelbart (1945-2015).}, journal = {Genetics}, volume = {201}, number = {2}, pages = {809-810}, doi = {10.1534/genetics.115.182238}, pmid = {26447131}, issn = {1943-2631}, mesh = {Animals ; Drosophila melanogaster/genetics ; Genetics/*history ; Genomics/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26443532, year = {2015}, author = {Fishkin, CA}, title = {Remembering J. A. Cifonelli (1916-2005) An Early Leader in Glycosaminoglycan Biochemistry.}, journal = {Glycobiology}, volume = {25}, number = {11}, pages = {1139-1141}, doi = {10.1093/glycob/cwv085}, pmid = {26443532}, issn = {1460-2423}, mesh = {Glycomics/*history ; Glycosaminoglycans/*metabolism ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid26443531, year = {2015}, author = {West, CM}, title = {The 2015 Karl Meyer Lectureship Award and the Rosalind Kornfeld Award for Lifetime Achievement in Glycobiology, from the Society for Glycobiology.}, journal = {Glycobiology}, volume = {25}, number = {11}, pages = {1137-1138}, doi = {10.1093/glycob/cwv086}, pmid = {26443531}, issn = {1460-2423}, mesh = {*Awards and Prizes ; Glycomics/*history/organization &amp; administration ; History, 20th Century ; History, 21st Century ; *Societies, Scientific ; United States ; }, }
@article {pmid26440511, year = {2015}, author = {Sen-Chowdhry, S and McKenna, WJ}, title = {Standing on the Shoulders of Giants: J.A.P. Paré and the Birth of Cardiovascular Genetics.}, journal = {The Canadian journal of cardiology}, volume = {31}, number = {11}, pages = {1305-1308}, doi = {10.1016/j.cjca.2015.05.026}, pmid = {26440511}, issn = {1916-7075}, support = {FS/10/011/27881//British Heart Foundation/United Kingdom ; }, mesh = {Cardiovascular Diseases/*genetics/*history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Quebec ; }, abstract = {Sudden death and stroke afflicted a family from rural Quebec with such frequency as to be called the Coaticook curse by the local community. In Montreal in the late 1950s, a team of physicians led by J.A.P. Paré investigated this family for inherited cardiovascular disease. Their efforts resulted in an extensive and now classic description of familial hypertrophic cardiomyopathy. A quarter of a century later, the same family was the subject of linkage analysis and direct sequencing, culminating in the isolation of a mutation in the gene encoding the β myosin heavy chain. MYH7 was the first gene implicated in a cardiovascular disease, which paved the way for identification of mutations in other heritable disorders, mechanistic studies, and clinical applications, such as predictive testing. The present era of cardiovascular genomics arguably had its inception in the clinical observations of Dr Paré and his colleagues more than 50 years ago.}, }
@article {pmid26432225, year = {2015}, author = {Green, ED and Watson, JD and Collins, FS}, title = {Human Genome Project: Twenty-five years of big biology.}, journal = {Nature}, volume = {526}, number = {7571}, pages = {29-31}, pmid = {26432225}, issn = {1476-4687}, mesh = {Cooperative Behavior ; Datasets as Topic/history ; Genome, Human/genetics ; History, 20th Century ; Human Genome Project/*history/organization &amp; administration ; Humans ; Information Dissemination/history ; Microbiota/genetics ; National Human Genome Research Institute (U.S.)/history ; Neoplasms/genetics ; Research Personnel/history/organization &amp; administration ; United States ; }, }
@article {pmid26431843, year = {2015}, author = {Kranz, G}, title = {[Not Available].}, journal = {Wiener klinische Wochenschrift}, volume = {127}, number = {19-20}, pages = {799-800}, pmid = {26431843}, issn = {1613-7671}, mesh = {Austria ; *Awards and Prizes ; Biological Psychiatry/*history ; Endocrinology/*history ; History, 21st Century ; Hormone Replacement Therapy/*history ; Molecular Biology/*history ; Transgender Persons/*history ; }, }
@article {pmid26430706, year = {2015}, author = {Schachter, H}, title = {Robert Spiro Obituary.}, journal = {Glycoconjugate journal}, volume = {32}, number = {6}, pages = {343-344}, doi = {10.1007/s10719-015-9598-2}, pmid = {26430706}, issn = {1573-4986}, mesh = {Glycomics/*history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid26430164, year = {2015}, author = {Sussman, HE}, title = {20 Years of Genome Research. Preface.}, journal = {Genome research}, volume = {25}, number = {10}, pages = {xv}, doi = {10.1101/gr.199026.115}, pmid = {26430164}, issn = {1549-5469}, mesh = {Genetic Research/*history ; *Genome ; History, 20th Century ; History, 21st Century ; Humans ; Publishing/*history ; }, }
@article {pmid26426073, year = {2015}, author = {Hobbs, H and Neill, US}, title = {A conversation with Helen Hobbs.}, journal = {The Journal of clinical investigation}, volume = {125}, number = {10}, pages = {3725-3726}, doi = {10.1172/JCI84086}, pmid = {26426073}, issn = {1558-8238}, mesh = {African Americans/genetics ; California ; Cardiovascular Diseases/ethnology/genetics ; Codon, Nonsense ; Cohort Studies ; Coronary Disease/ethnology/genetics ; European Continental Ancestry Group/genetics ; Founder Effect ; Genetic Predisposition to Disease ; Genetic Variation ; Genetics, Medical/*history ; Genetics, Population/*history ; Hispanic Americans/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Hyperlipoproteinemia Type II/epidemiology/genetics ; Lipoproteins, LDL/blood/deficiency ; Mutation ; Proprotein Convertase 9 ; Proprotein Convertases/deficiency/*genetics/physiology ; Receptors, LDL/deficiency ; Serine Endopeptidases/deficiency/*genetics/physiology ; Texas/epidemiology ; }, }
@article {pmid26419800, year = {2015}, author = {Lloyd, A and Sahai, E}, title = {Chris Marshall 1949-2015.}, journal = {Nature cell biology}, volume = {17}, number = {10}, pages = {1229}, doi = {10.1038/ncb3247}, pmid = {26419800}, issn = {1476-4679}, mesh = {Cell Biology/*history ; Cell Transformation, Neoplastic/genetics ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Neoplasms/genetics/*history ; United Kingdom ; ras Proteins/genetics ; }, }
@article {pmid26414334, year = {2016}, author = {Bud, R}, title = {Representing scale: What should be special about the heritage of mass science?.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {117-119}, doi = {10.1016/j.shpsc.2015.08.008}, pmid = {26414334}, issn = {1879-2499}, mesh = {Genomics/history ; *History, 21st Century ; Molecular Biology/history ; Science/history ; }, abstract = {This symposium marks the achievement of a transformation in the history of science. Whereas in the 1960s, the study of modern developments was marginal to the field, it has now become a key part of the discipline's central concerns. The contrast between this conference and a 1960 symposium is illuminating. The paper reflects on the tensions over the future direction of the discipline expressed at the 1974 semi-centenary conference of the History of Science Society. Today, genomics with its vast demand for resources and its challenges to traditional boundaries is not untypical of a wide range of scientific activities. Its study can serve as a pioneering case study interesting for itself and important for a wider understanding of science. Papers at this meeting show the implications for the understanding of methods, appropriate targets of study, the interpretation of images and the preservation of archives.}, }
@article {pmid26406362, year = {2015}, author = {Bellen, HJ and Yamamoto, S}, title = {Morgan's legacy: fruit flies and the functional annotation of conserved genes.}, journal = {Cell}, volume = {163}, number = {1}, pages = {12-14}, pmid = {26406362}, issn = {1097-4172}, support = {//Howard Hughes Medical Institute/United States ; R01 GM067858/GM/NIGMS NIH HHS/United States ; }, mesh = {Animals ; Drosophila melanogaster/*genetics ; Genetic Techniques ; Genetics/*history ; History, 20th Century ; Humans ; Models, Animal ; }, abstract = {In 1915, "The Mechanism of Mendelian Heredity" was published by four prominent Drosophila geneticists. They discovered that genes form linkage groups on chromosomes inherited in a Mendelian fashion and laid the genetic foundation that promoted Drosophila as a model organism. Flies continue to offer great opportunities, including studies in the field of functional genomics.}, }
@article {pmid26406361, year = {2015}, author = {Birchler, JA}, title = {Mendel, mechanism, models, marketing, and more.}, journal = {Cell}, volume = {163}, number = {1}, pages = {9-11}, doi = {10.1016/j.cell.2015.09.008}, pmid = {26406361}, issn = {1097-4172}, mesh = {Animals ; Chickens/genetics ; Crosses, Genetic ; Genetics/*history ; History, 18th Century ; *Models, Genetic ; Peas/genetics ; Zea mays/genetics ; }, abstract = {This year marks the 150(th) anniversary of the presentation by Gregor Mendel of his studies of plant hybridization to the Brunn Natural History Society. Their nature and meaning have been discussed many times. However, on this occasion, we reflect on the scientific enterprise and the perception of new discoveries.}, }
@article {pmid26394718, year = {2015}, author = {Carmona, D and Fitzpatrick, CR and Johnson, MT}, title = {Fifty years of co-evolution and beyond: integrating co-evolution from molecules to species.}, journal = {Molecular ecology}, volume = {24}, number = {21}, pages = {5315-5329}, doi = {10.1111/mec.13389}, pmid = {26394718}, issn = {1365-294X}, mesh = {Adaptation, Biological/genetics ; *Biological Evolution ; *Evolution, Molecular ; Genetic Fitness ; Genetics/history ; Genetics, Population ; History, 20th Century ; History, 21st Century ; *Models, Biological ; Selection, Genetic ; }, abstract = {Fifty years after Ehrlich and Raven's seminal paper, the idea of co-evolution continues to grow as a key concept in our understanding of organic evolution. This concept has not only provided a compelling synthesis between evolutionary biology and community ecology, but has also inspired research that extends beyond its original scope. In this article, we identify unresolved questions about the co-evolutionary process and advocate for the integration of co-evolutionary research from molecular to interspecific interactions. We address two basic questions: (i) What is co-evolution and how common is it? (ii) What is the unit of co-evolution? Both questions aim to explore the heart of the co-evolutionary process. Despite the claim that co-evolution is ubiquitous, we argue that there is in fact little evidence to support the view that reciprocal natural selection and coadaptation are common in nature. We also challenge the traditional view that co-evolution only occurs between traits of interacting species. Co-evolution has the potential to explain evolutionary processes and patterns that result from intra- and intermolecular biochemical interactions within cells, intergenomic interactions (e.g. nuclear-cytoplasmic) within species, as well as intergenomic interactions mediated by phenotypic traits between species. Research that bridges across these levels of organization will help to advance our understanding of the importance of the co-evolutionary processes in shaping the diversity of life on Earth.}, }
@article {pmid26392355, year = {2015}, author = {Portin, P}, title = {The Development of Genetics in the Light of Thomas Kuhn's Theory of Scientific Revolutions.}, journal = {Recent advances in DNA &amp; gene sequences}, volume = {9}, number = {1}, pages = {14-25}, doi = {10.2174/2352092209666150921110920}, pmid = {26392355}, issn = {2352-0930}, mesh = {Genetics/*history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Science/*history/trends ; }, abstract = {The concept of a paradigm is in the key position in Thomas Kuhn's theory of scientific revolutions. A paradigm is the framework within which the results, concepts, hypotheses and theories of scientific research work are understood. According to Kuhn, a paradigm guides the working and efforts of scientists during the time period which he calls the period of normal science. Before long, however, normal science leads to unexplained matters, a situation that then leads the development of the scientific discipline in question to a paradigm shift--a scientific revolution. When a new theory is born, it has either gradually emerged as an extension of the past theory, or the old theory has become a borderline case in the new theory. In the former case, one can speak of a paradigm extension. According to the present author, the development of modern genetics has, until very recent years, been guided by a single paradigm, the Mendelian paradigm which Gregor Mendel launched 150 years ago, and under the guidance of this paradigm the development of genetics has proceeded in a normal fashion in the spirit of logical positivism. Modern discoveries in genetics have, however, created a situation which seems to be leading toward a paradigm shift. The most significant of these discoveries are the findings of adaptive mutations, the phenomenon of transgenerational epigenetic inheritance, and, above all, the present deeply critical state of the concept of the gene.}, }
@article {pmid26391791, year = {2016}, author = {Serpente, N}, title = {More than a Mentor: Leonard Darwin's Contribution to the Assimilation of Mendelism into Eugenics and Darwinism.}, journal = {Journal of the history of biology}, volume = {49}, number = {3}, pages = {461-494}, pmid = {26391791}, issn = {1573-0387}, mesh = {*Biological Evolution ; Biometry/history ; Correspondence as Topic/history ; Eugenics/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Mentors/history ; Mutation ; *Selection, Genetic ; United Kingdom ; }, abstract = {This article discusses the contribution to evolutionary theory of Leonard Darwin (1850-1943), the eighth child of Charles Darwin. By analysing the correspondence Leonard Darwin maintained with Ronald Aylmer Fisher in conjunction with an assessment of his books and other written works between the 1910s and 1930s, this article argues for a more prominent role played by him than the previously recognised in the literature as an informal mentor of Fisher. The paper discusses Leonard's efforts to amalgamate Mendelism with both Eugenics and Darwinism in order for the first to base their policies on new scientific developments and to help the second in finding a target for natural selection. Without a formal qualification in biological sciences and as such mistrusted by some "formal" scientists, Leonard Darwin engaged with key themes of Darwinism such as mimicry, the role of mutations on speciation and the process of genetic variability, arriving at important conclusions concerning the usefulness of Mendelian genetics for his father's theory.}, }
@article {pmid26390754, year = {2014}, author = {Poggio, T and Poggio, A}, title = {DONALD ARTHUR GLASER: 21 SEPTEMBER 1926 - 28 FEBRUARY 2013.}, journal = {Proceedings of the American Philosophical Society}, volume = {158}, number = {3}, pages = {311-315}, pmid = {26390754}, issn = {0003-049X}, mesh = {California ; History, 20th Century ; History, 21st Century ; Michigan ; Molecular Biology/*history ; Neurobiology/*history ; Physics/*history ; }, }
@article {pmid26389148, year = {2015}, author = {}, title = {Special issue in honor of John James on the occasion of his 80th birthday.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {132}, number = {2}, pages = {85-203}, pmid = {26389148}, issn = {1439-0388}, mesh = {Animal Husbandry ; Animals ; Australia ; Breeding/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Queensland ; }, }
@article {pmid26388555, year = {2016}, author = {Shaw, J}, title = {Documenting genomics: Applying archival theory to preserving the records of the Human Genome Project.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {61-69}, pmid = {26388555}, issn = {1879-2499}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {*Archives/history ; History, 21st Century ; Human Genome Project/*history/organization &amp; administration ; Humans ; Records ; United Kingdom ; United States ; }, abstract = {The Human Genome Archive Project (HGAP) aimed to preserve the documentary heritage of the UK's contribution to the Human Genome Project (HGP) by using archival theory to develop a suitable methodology for capturing the results of modern, collaborative science. After assessing past projects and different archival theories, the HGAP used an approach based on the theory of documentation strategy to try to capture the records of a scientific project that had an influence beyond the purely scientific sphere. The HGAP was an archival survey that ran for two years. It led to ninety scientists being contacted and has, so far, led to six collections being deposited in the Wellcome Library, with additional collections being deposited in other UK repositories. In applying documentation strategy the HGAP was attempting to move away from traditional archival approaches to science, which have generally focused on retired Nobel Prize winners. It has been partially successful in this aim, having managed to secure collections from people who are not 'big names', but who made an important contribution to the HGP. However, the attempt to redress the gender imbalance in scientific collections and to improve record-keeping in scientific organisations has continued to be difficult to achieve.}, }
@article {pmid26386516, year = {2016}, author = {Serpente, N}, title = {Justifying molecular images in cell biology textbooks: From constructions to primary data.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {105-116}, doi = {10.1016/j.shpsc.2015.08.007}, pmid = {26386516}, issn = {1879-2499}, mesh = {Animals ; Archives ; *Books, Illustrated/history ; *Cell Biology/history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history ; *Textbooks as Topic/history ; }, abstract = {For scientific claims to be reliable and productive they have to be justified. However, on the one hand little is known on what justification precisely means to scientists, and on the other the position held by philosophers of science on what it entails is rather limited; for justifications customarily refer to the written form (textual expressions) of scientific claims, leaving aside images, which, as many cases from the history of science show are relevant to this process. The fact that images can visually express scientific claims independently from text, plus their vast variety and origins, requires an assessment of the way they are currently justified and in turn used as sources to justify scientific claims in the case of particular scientific fields. Similarly, in view of the different nature of images, analysis is required to determine on what side of the philosophical distinction between data and phenomena these different kinds of images fall. This paper historicizes and documents a particular aspect of contemporary life sciences research: the use of the molecular image as vehicle of knowledge production in cell studies, a field that has undergone a significant shift in visual expressions from the early 1980s onwards. Focussing on textbooks as sources that have been overlooked in the historiography of contemporary biomedicine, the aim is to explore (1) whether the shift of cell studies, entailing a superseding of the optical image traditionally conceptualised as primary data, by the molecular image, corresponds with a shift of justificatory practices, and (2) to assess the role of the molecular image as primary data. This paper also explores the dual role of images as teaching resources and as resources for the construction of knowledge in cell studies especially in its relation to discovery and justification. Finally, this paper seeks to stimulate reflection on what kind of archival resources could benefit the work of present and future epistemic historians in particular those interested on the role of images as sources of training and knowledge production in scientific disciplines.}, }
@article {pmid26383132, year = {2016}, author = {Aicardi, C}, title = {Francis Crick, cross-worlds influencer: A narrative model to historicize big bioscience.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {55}, number = {}, pages = {83-95}, pmid = {26383132}, issn = {1879-2499}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {California ; *Historiography ; History, 20th Century ; Molecular Biology/*history ; United Kingdom ; }, abstract = {The essay is an empirical case study of famed British scientist Francis Crick. Viewing him as a 'cross-worlds influencer' who was moreover dedicated to a cause, I have tried to understand how these two characteristics influenced the trajectory of his long career and how they shaped his contributions to the diverse research fields in which he was active, and concluded that these characteristics reconfigure Crick's career into a coherent whole. First, I identify a major thread running through Crick's career: helping organise 'un-disciplined' new research fields, and show that his successive choices were not serendipitous but motivated by what he construed as a crusade against 'vitalism': anti-vitalism was a defining driver of his career. I then examine how Crick put his skills as a crossworlds influencer to the service of his cause, by helping organise his chosen fields of intervention. I argue that his activities as a cross-worlds influencer were an integral part of his way of 'doing science' and that his contributions to science, neuroscience in particular, should be re-evaluated in this light. This leads me to advance a possible strategy for historians to investigate big bioscience fields. Following Abir-Am, I propose to trace their genealogies back to the fluctuating semi-institutional gatherings and the institutional structures that sustained them. My research on Crick supports the view that such studies can bring insights into the question of why the contours of contemporary big bioscience endeavours have come to be shaped the way they are. Further, the essay provides a heuristic device for approaching these enquiries: 'follow the cross-worlds influencers' who worked to build and organise these semi-institutional gatherings and institutional structures.}, }
@article {pmid26372894, year = {2015}, author = {Singh, RS}, title = {Limits of imagination: the 150th Anniversary of Mendel's Laws, and why Mendel failed to see the importance of his discovery for Darwin's theory of evolution.}, journal = {Genome}, volume = {58}, number = {9}, pages = {415-421}, doi = {10.1139/gen-2015-0107}, pmid = {26372894}, issn = {1480-3321}, mesh = {Anniversaries and Special Events ; *Biological Evolution ; Genetic Research/*history ; Genetic Variation ; History, 19th Century ; History, 20th Century ; *Imagination ; *Selection, Genetic ; }, abstract = {Mendel is credited for discovering Laws of Heredity, but his work has come under criticism on three grounds: for possible falsification of data to fit his expectations, for getting undue credit for the laws of heredity without having ideas of segregation and independent assortment, and for being interested in the development of hybrids rather than in the laws of heredity. I present a brief review of these criticisms and conclude that Mendel deserved to be called the father of genetics even if he may not, and most likely did not, have clear ideas of segregation and particulate determiners as we know them now. I argue that neither Mendel understood the evolutionary significance of his findings for the problem of genetic variation, nor would Darwin have understood their significance had he read Mendel's paper. I argue that the limits to imagination, in both cases, came from their mental framework being shaped by existing paradigms-blending inheritance in the case of Darwin, hybrid development in the case of Mendel. Like Einstein, Darwin's natural selection was deterministic; like Niels Bohr, Mendel's Laws were probabilistic-based on random segregation of trait-determining "factors". Unlike Einstein who understood quantum mechanics, Darwin would have been at a loss with Mendel's paper with no guide to turn to. Geniuses in their imaginations are like heat-seeking missiles locked-in with their targets of deep interests and they generally see things in one dimension only. Imagination has limits; unaided imagination is like a bird without wings--it goes nowhere.}, }
@article {pmid26372579, year = {2015}, author = {Komaroff, AL}, title = {Modern Biological Research, Medical Practice, and Human Knowledge.}, journal = {JAMA}, volume = {314}, number = {11}, pages = {1133-1135}, doi = {10.1001/jama.2015.10893}, pmid = {26372579}, issn = {1538-3598}, mesh = {Biological Phenomena/*physiology ; Biomedical Research/*trends ; DNA/ultrastructure ; Genome, Human ; History, 20th Century ; Humans ; *Knowledge ; Molecular Biology/history/trends ; Physiological Phenomena ; }, }
@article {pmid26372574, year = {2015}, author = {Disis, ML}, title = {The Lasker Awards--Recognizing and Highlighting Oncology Research.}, journal = {JAMA}, volume = {314}, number = {11}, pages = {1123-1124}, doi = {10.1001/jama.2015.10964}, pmid = {26372574}, issn = {1538-3598}, mesh = {*Awards and Prizes ; Biomedical Research/*history/trends ; Forecasting ; Genomics/history ; History, 20th Century ; Humans ; Medical Oncology/*history/trends ; Neoplasms/diagnosis/*history/therapy ; }, }
@article {pmid26359977, year = {2015}, author = {Elledge, SJ}, title = {Accidents and Damage Control.}, journal = {Cell}, volume = {162}, number = {6}, pages = {1196-1200}, doi = {10.1016/j.cell.2015.08.042}, pmid = {26359977}, issn = {1097-4172}, mesh = {Biochemistry/*history ; Cloning, Molecular ; *DNA Repair ; DNA Replication ; Eukaryota/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Rec A Recombinases/chemistry/genetics ; Ribonucleotide Reductases/chemistry/*genetics/metabolism ; Sequence Analysis, Protein ; United States ; Yeasts/classification/genetics/*metabolism/radiation effects ; }, }
@article {pmid26359976, year = {2015}, author = {Witkin, E}, title = {Beginner's Luck.}, journal = {Cell}, volume = {162}, number = {6}, pages = {1192-1195}, doi = {10.1016/j.cell.2015.08.048}, pmid = {26359976}, issn = {1097-4172}, mesh = {Education, Graduate ; Escherichia coli/cytology/*genetics/growth &amp; development/*radiation effects ; Genetics, Microbial/*history ; History, 20th Century ; Microbial Viability/radiation effects ; New York ; }, }
@article {pmid26353441, year = {2015}, author = {Bod, R}, title = {A Comparative Framework for Studying the Histories of the Humanities and Science.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {106}, number = {2}, pages = {367-377}, doi = {10.1086/681979}, pmid = {26353441}, issn = {0021-1753}, mesh = {Computers ; History, 20th Century ; Humanities/history ; Informatics/*history ; Linguistics/*history ; Molecular Biology/*history ; Philology/*history ; Science/history ; }, abstract = {While the humanities and the sciences have a closely connected history, there are no general histories that bring the two fields together on an equal footing. This paper argues that there is a level at which some humanistic and scientific disciplines can be brought under a common denominator and compared. This is at the level of underlying methods, especially at the level of formalisms and rule systems used by different disciplines. The essay formally compares linguistics and computer science by noting that the same grammar formalism was used in the 1950s for describing both human and. programming languages. Additionally, it examines the influence of philology on molecular biology, and vice versa, by recognizing that the tree-formalism and rule system used for text reconstruction was also employed in DNA genetics. It also shows that rule systems for source criticism in history are used in forensic science, evidence-based medicine, and jurisprudence. This paper thus opens up a new comparative approach within which the histories of the humanities and the sciences can be examined on a common level.}, }
@article {pmid26348215, year = {2015}, author = {Jasin, M}, title = {Accolades for the DNA Damage Response.}, journal = {The New England journal of medicine}, volume = {373}, number = {16}, pages = {1492-1495}, doi = {10.1056/NEJMp1509698}, pmid = {26348215}, issn = {1533-4406}, mesh = {*Awards and Prizes ; Bacteria/genetics ; Bacteriology/history ; Biomedical Research/history ; DNA Damage/*physiology ; DNA Repair/*physiology ; Eukaryota/genetics ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; United States ; }, }
@article {pmid26345423, year = {2015}, author = {Jackson, S}, title = {Evelyn Witkin and Stephen Elledge share the 2015 Lasker Basic Medical Award.}, journal = {The Journal of clinical investigation}, volume = {125}, number = {10}, pages = {3727-3731}, pmid = {26345423}, issn = {1558-8238}, mesh = {Ataxia Telangiectasia/genetics ; *Awards and Prizes ; Bacterial Proteins/physiology ; DNA Damage ; DNA Repair/*genetics ; DNA Repair Enzymes/physiology ; Escherichia coli/genetics/radiation effects ; Genetics, Microbial/*history ; History, 20th Century ; History, 21st Century ; Humans ; Protein Kinases/physiology ; Radiation Tolerance/genetics ; SOS Response, Genetics/genetics ; Saccharomyces cerevisiae/genetics/radiation effects ; Saccharomyces cerevisiae Proteins/physiology ; Ultraviolet Rays ; United States ; }, }
@article {pmid26336949, year = {2015}, author = {Horch, RE}, title = {In Memoriam: Professor Laurentiu M. Popescu (1944-2015).}, journal = {Journal of cellular and molecular medicine}, volume = {19}, number = {9}, pages = {2047-2048}, doi = {10.1111/jcmm.12686}, pmid = {26336949}, issn = {1582-4934}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Medicine/*history ; Romania ; Telocytes/cytology ; }, }
@article {pmid26336948, year = {2015}, author = {Wang, X}, title = {In Memoriam: Laurentiu Mircea Popescu (1944-2015).}, journal = {Journal of cellular and molecular medicine}, volume = {19}, number = {9}, pages = {2045-2046}, doi = {10.1111/jcmm.12688}, pmid = {26336948}, issn = {1582-4934}, mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Medicine/*history ; Telocytes/metabolism ; }, }
@article {pmid26333393, year = {2015}, author = {Morange, M}, title = {What history tells us XXXVIII. Resurrection of a transient forgotten model of gene action.}, journal = {Journal of biosciences}, volume = {40}, number = {3}, pages = {473-476}, pmid = {26333393}, issn = {0973-7138}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; Models, Biological ; Proteins/genetics ; }, }
@article {pmid26317371, year = {2015}, author = {Ehrlich, M}, title = {Development-linked changes in DNA methylation and hydroxymethylation in humans: interview with Dr Melanie Ehrlich.}, journal = {Epigenomics}, volume = {7}, number = {5}, pages = {691-694}, doi = {10.2217/epi.15.44}, pmid = {26317371}, issn = {1750-192X}, mesh = {5-Methylcytosine/*metabolism ; *DNA Methylation ; Epigenesis, Genetic ; Epigenomics/*history/methods/trends ; History, 20th Century ; History, 21st Century ; Humans ; Methylation ; Neoplasms/*genetics/metabolism ; Organ Specificity ; }, }
@article {pmid26305971, year = {2015}, author = {Viegas, J}, title = {Profile of Xinnian Dong.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {36}, pages = {11144-11145}, pmid = {26305971}, issn = {1091-6490}, mesh = {Arabidopsis/genetics/immunology/microbiology ; Arabidopsis Proteins/genetics/immunology ; China ; Disease Resistance/*genetics ; History, 20th Century ; History, 21st Century ; Host-Pathogen Interactions/immunology ; Molecular Biology/*history ; Plant Diseases/*genetics/microbiology ; Plant Immunity/genetics ; Plant Pathology/*history ; Pseudomonas syringae/immunology/physiology ; United States ; }, }
@article {pmid26281767, year = {2015}, author = {Chadov, BF and Fedorova, NB and Chadova, EV}, title = {Conditional mutations in Drosophila melanogaster: On the occasion of the 150th anniversary of G. Mendel's report in Brünn.}, journal = {Mutation research. Reviews in mutation research}, volume = {765}, number = {}, pages = {40-55}, doi = {10.1016/j.mrrev.2015.06.001}, pmid = {26281767}, issn = {1388-2139}, mesh = {Animals ; Breeding/history/methods ; Chromosomes, Insect ; Drosophila Proteins/*genetics ; Drosophila melanogaster/classification/*genetics ; Epigenesis, Genetic ; Genetics/*history ; History, 19th Century ; Mutation ; Species Specificity ; }, abstract = {The basis for modern genetics was laid by Gregor Mendel. He proposed that traits belonging to the intraspecific variability class be studied. However, individuals of one species possess traits of another class. They are related to intraspecific similarity. Individuals never differ from each other in these traits. By analogy with traits varying within a species and determined by genes, it is conjectured that intraspecific similarity is determined by genes, too. If so, mutations in these genes can be obtained. This paper provides a review of works published in 2000-2014 that: (1) propose breeding methods for detection of mutations in Drosophila melanogaster genes that lead intraspecific similarity; these mutations were called conditional; (2) describe collections of conditional mutations in chromosomes X, 2, and 3 of Drosophila; (3) show unusual features of epigenetic nature in the mutants; and (4) analyze these features of the mutants. Based on the peculiarities of manifestation it is supposed that the recognized conditional mutations occur in genes responsible for intraspecific similarity. The genes presumably belong to the so-called regulatory network of the Drosophila genome. This approach expands the scope of breeding analysis introduced by G. Mendel for heredity studies 150 years ago.}, }
@article {pmid26281764, year = {2015}, author = {Dronamraju, K}, title = {J.B.S. Haldane as I knew him, with a brief account of his contribution to mutation research.}, journal = {Mutation research. Reviews in mutation research}, volume = {765}, number = {}, pages = {1-6}, doi = {10.1016/j.mrrev.2015.05.002}, pmid = {26281764}, issn = {1388-2139}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {England ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; India ; *Mutation ; }, abstract = {J.B.S. Haldane made important contributions to several sciences although he did not possess an academic qualification in any branch of science. A classical scholar, who grew up in a scientific household in Oxford, Haldane was taught the principles of scientific experimentation from his childhood by his father, the distinguished physiologist John Scott Haldane. Collaborating with his father, Haldane contributed to respiratory physiology but soon switched to genetics, especially population genetics. He investigated mathematically the dynamics of selection - mutation balance in populations - concluding that it is mutation that determines the course of evolution. Besides genetics, Haldane was noted for his important contributions to enzyme kinetics, origin of life, biometry, cybernetics, cosmology and deep sea diving, among others.}, }
@article {pmid26280579, year = {2015}, author = {Ginsburg, D}, title = {Introduction of Francis S. Collins.}, journal = {The Journal of clinical investigation}, volume = {125}, number = {9}, pages = {3321-3327}, pmid = {26280579}, issn = {1558-8238}, mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; }, }
@article {pmid26272995, year = {2015}, author = {Ferris, H and Hieb, WF}, title = {Ellsworth C. Dougherty: A Pioneer in the Selection of Caenorhabditis elegans as a Model Organism.}, journal = {Genetics}, volume = {200}, number = {4}, pages = {991-1002}, pmid = {26272995}, issn = {1943-2631}, mesh = {Animals ; Caenorhabditis elegans/*genetics ; Genetics/*history ; History, 20th Century ; *Models, Animal ; United States ; }, abstract = {Ellsworth Dougherty (1921-1965) was a man of impressive intellectual dimensions and interests; in a relatively short career he contributed enormously as researcher and scholar to the biological knowledge base for selection of Caenorhabditis elegans as a model organism in neurobiology, genetics, and molecular biology. He helped guide the choice of strains that were eventually used, and, in particular, he developed the methodology and understanding for the nutrition and axenic culture of nematodes and other organisms. Dougherty insisted upon a concise terminology for culture techniques and coined descriptive neologisms that were justified by their linguistic roots. Among other contributions, he refined the classification system for the Protista.}, }
@article {pmid26271158, year = {2015}, author = {Fellman, J and Parisi, P}, title = {Aldur W. Eriksson 7.1.1927-3.4.2015.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {18}, number = {5}, pages = {619-620}, doi = {10.1017/thg.2015.50}, pmid = {26271158}, issn = {1832-4274}, mesh = {Finland ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Twins/genetics/*history ; }, }
@article {pmid26259256, year = {2015}, author = {Munch-Petersen, B and Gojkovic, Z and Knecht, W}, title = {Jure Piskur (1960 - 2014).}, journal = {Journal of genetics and genomics = Yi chuan xue bao}, volume = {42}, number = {5}, pages = {275-277}, doi = {10.1016/j.jgg.2014.11.006}, pmid = {26259256}, issn = {1673-8527}, mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Slovenia ; }, }
@article {pmid26258186, year = {2015}, author = {Delepelaire, P and Izadi-Pruneyre, N and Delepierre, M and Ghigo, JM and Schwartz, M}, title = {A tribute to Cécile Wandersman.}, journal = {Research in microbiology}, volume = {166}, number = {5}, pages = {393-398}, doi = {10.1016/j.resmic.2015.03.010}, pmid = {26258186}, issn = {1769-7123}, mesh = {Bacteriology/*history ; Bacteriophages/chemistry/genetics ; France ; Genetics, Microbial/*history ; Gram-Negative Bacteria/metabolism ; History, 20th Century ; History, 21st Century ; Type I Secretion Systems ; }, }
@article {pmid26256508, year = {2015}, author = {Björkman, M}, title = {The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics.}, journal = {Science in context}, volume = {28}, number = {3}, pages = {489-513}, doi = {10.1017/S0269889715000216}, pmid = {26256508}, issn = {0269-8897}, mesh = {Eugenics/*history ; Genetic Counseling/*history ; Genetics, Medical/history ; History, 20th Century ; Humans ; Sterilization, Reproductive ; Sweden ; }, abstract = {This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of "heredophobia" (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public.}, }
@article {pmid26256506, year = {2015}, author = {von Schwerin, A}, title = {Shaping Vulnerable Bodies at the Thin Boundary between Environment and Organism: Skin, DNA Repair, and a Genealogy of DNA Care Strategies.}, journal = {Science in context}, volume = {28}, number = {3}, pages = {427-464}, doi = {10.1017/S0269889715000162}, pmid = {26256506}, issn = {0269-8897}, mesh = {*DNA Repair ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Radiologic Health/*history ; Risk Assessment/history ; Xeroderma Pigmentosum/etiology/*history ; }, abstract = {This paper brings together the history of risk and the history of DNA repair, a biological phenomenon that emerged as a research field in between molecular biology, genetics, and radiation research in the 1960s. The case of xeroderma pigmentosum (XP), an inherited hypersensitivity to UV light and, hence, a disposition to skin cancer will be the starting point to argue that, in the 1970s and 1980s, DNA repair became entangled in the creation of new models of the human body at risk - what is here conceptually referred to as the vulnerability aspect of body history - and new attempts at cancer prevention and enhancement of the body associated with the new flourishing research areas of antimutagenesis and anticarcinogenesis. The aim will be to demonstrate that DNA repair created special attempts at disease prevention: molecular enhancement, seeking to identify means to increase the self-repair abilities of the body at the molecular level. Prevention in this sense meant enhancing the body's ability to cope with the environmental hazards of an already toxic world. This strategy has recently been adopted by the beauty industry, which introduced DNA care as a new target for skin care research and anti-aging formulas.}, }
@article {pmid26256502, year = {2015}, author = {Grote, M and Stadler, M}, title = {Introduction: Surface Histories.}, journal = {Science in context}, volume = {28}, number = {3}, pages = {311-315}, doi = {10.1017/S0269889715000149}, pmid = {26256502}, issn = {0269-8897}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Physics/*history ; Physiology/*history ; Research/*history ; }, }
@article {pmid26238262, year = {2015}, author = {Eppig, JT and Richardson, JE and Kadin, JA and Ringwald, M and Blake, JA and Bult, CJ}, title = {Mouse Genome Informatics (MGI): reflecting on 25 years.}, journal = {Mammalian genome : official journal of the International Mammalian Genome Society}, volume = {26}, number = {7-8}, pages = {272-284}, pmid = {26238262}, issn = {1432-1777}, support = {HG000330/HG/NHGRI NIH HHS/United States ; R01 GM080646/GM/NIGMS NIH HHS/United States ; R24 OD011190/OD/NIH HHS/United States ; U41 HG000330/HG/NHGRI NIH HHS/United States ; R01 HG004834/HG/NHGRI NIH HHS/United States ; GM080646/GM/NIGMS NIH HHS/United States ; HD062499/HD/NICHD NIH HHS/United States ; OD011190/OD/NIH HHS/United States ; P41 HD062499/HD/NICHD NIH HHS/United States ; HG004834/HG/NHGRI NIH HHS/United States ; CA089713/CA/NCI NIH HHS/United States ; P41 HG000330/HG/NHGRI NIH HHS/United States ; R01 CA089713/CA/NCI NIH HHS/United States ; P30 CA034196/CA/NCI NIH HHS/United States ; }, mesh = {Animals ; Databases, Genetic/*history/supply &amp; distribution ; Disease Models, Animal ; *Genome ; Genomics/*history/methods/trends ; Genotype ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Mutagenesis, Site-Directed ; Phenotype ; Reverse Genetics ; *Software ; }, abstract = {From its inception in 1989, the mission of the Mouse Genome Informatics (MGI) resource remains to integrate genetic, genomic, and biological data about the laboratory mouse to facilitate the study of human health and disease. This mission is ever more feasible as the revolution in genetics knowledge, the ability to sequence genomes, and the ability to specifically manipulate mammalian genomes are now at our fingertips. Through major paradigm shifts in biological research and computer technologies, MGI has adapted and evolved to become an integral part of the larger global bioinformatics infrastructure and honed its ability to provide authoritative reference datasets used and incorporated by many other established bioinformatics resources. Here, we review some of the major changes in research approaches over that last quarter century, how these changes are reflected in the MGI resource you use today, and what may be around the next corner.}, }
@article {pmid26230006, year = {2015}, author = {Karlsson, AH and Lindahl, G and Warner, RD and Hunt, MC}, title = {Professor Kerstin Lundström, Swedish University of Agricultural Sciences, Uppsala, 1946–2015.}, journal = {Meat science}, volume = {107}, number = {}, pages = {109}, doi = {10.1016/j.meatsci.2015.05.001}, pmid = {26230006}, issn = {1873-4138}, mesh = {Food Technology/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Sweden ; }, }
@article {pmid26227877, year = {2015}, author = {McNally, E and Patterson, K}, title = {Elizabeth McNally: A Muscular Approach.}, journal = {Circulation research}, volume = {117}, number = {4}, pages = {317-320}, doi = {10.1161/CIRCRESAHA.115.307128}, pmid = {26227877}, issn = {1524-4571}, mesh = {Animals ; *Biomedical Research/history ; Cardiomyopathies/*genetics/history ; Career Choice ; Genetic Markers ; Genetic Predisposition to Disease ; Genetic Variation ; *Genetics/history ; History, 20th Century ; History, 21st Century ; Humans ; Mentors ; Muscular Dystrophies/*genetics/history ; Women, Working ; }, }
@article {pmid26223881, year = {2015}, author = {Dolan, ME and Baldarelli, RM and Bello, SM and Ni, L and McAndrews, MS and Bult, CJ and Kadin, JA and Richardson, JE and Ringwald, M and Eppig, JT and Blake, JA}, title = {Orthology for comparative genomics in the mouse genome database.}, journal = {Mammalian genome : official journal of the International Mammalian Genome Society}, volume = {26}, number = {7-8}, pages = {305-313}, pmid = {26223881}, issn = {1432-1777}, support = {HG000330/HG/NHGRI NIH HHS/United States ; U41 HG002273/HG/NHGRI NIH HHS/United States ; U41 HG000330/HG/NHGRI NIH HHS/United States ; HG002273/HG/NHGRI NIH HHS/United States ; R01 HG002273/HG/NHGRI NIH HHS/United States ; HD062499/HD/NICHD NIH HHS/United States ; P41 HD062499/HD/NICHD NIH HHS/United States ; P41 HG002273/HG/NHGRI NIH HHS/United States ; P41 HG000330/HG/NHGRI NIH HHS/United States ; P30 CA034196/CA/NCI NIH HHS/United States ; }, mesh = {Alleles ; Animals ; Databases, Genetic/*history ; Disease Models, Animal ; *Genome ; Genomics/history/*methods ; Genotype ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; Molecular Sequence Annotation ; Phenotype ; Phylogeny ; *Sequence Homology, Amino Acid ; }, abstract = {The mouse genome database (MGD) is the model organism database component of the mouse genome informatics system at The Jackson Laboratory. MGD is the international data resource for the laboratory mouse and facilitates the use of mice in the study of human health and disease. Since its beginnings, MGD has included comparative genomics data with a particular focus on human-mouse orthology, an essential component of the use of mouse as a model organism. Over the past 25 years, novel algorithms and addition of orthologs from other model organisms have enriched comparative genomics in MGD data, extending the use of orthology data to support the laboratory mouse as a model of human biology. Here, we describe current comparative data in MGD and review the history and refinement of orthology representation in this resource.}, }
@article {pmid26216951, year = {2015}, author = {Patel, DJ and Davis, TH}, title = {Profile of Dinshaw J. Patel.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {112}, number = {34}, pages = {10570-10572}, pmid = {26216951}, issn = {1091-6490}, support = {P30 CA008748/CA/NCI NIH HHS/United States ; }, mesh = {Chemistry/history ; Epigenomics/*history ; History, 20th Century ; History, 21st Century ; India ; Molecular Biology/*history ; Nucleic Acid Conformation ; RNA/chemistry/*history ; United States ; }, }
@article {pmid26211095, year = {2015}, author = {Nau, JY}, title = {[Bertrand Jordan, molecular biologist and the Gospel of John].}, journal = {Revue medicale suisse}, volume = {11}, number = {478}, pages = {1318-1319}, pmid = {26211095}, issn = {1660-9379}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Male ; Molecular Biology/*history ; Precision Medicine ; Switzerland ; *Textbooks as Topic ; }, }
@article {pmid26209888, year = {2015}, author = {Fisher, S}, title = {Not just "a clever way to detect whether DNA really made RNA": The invention of DNA-RNA hybridization and its outcome.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {53}, number = {}, pages = {40-52}, doi = {10.1016/j.shpsc.2015.07.002}, pmid = {26209888}, issn = {1879-2499}, mesh = {History, 20th Century ; Illinois ; Molecular Biology/*history/methods ; Nucleic Acid Hybridization/*methods ; }, abstract = {The invention of DNA-RNA hybridization in 1960 by Ben Hall and Sol Spiegelman had a powerful impact on the theory and discourse of molecular biology. Yet, despite its importance, the story of this invention has barely been told. Hybridization allowed biologists to bridge the theoretical realm and the material world of organisms, to correlate a hypothetical concept of biological information transfer with a mechanism capable of making an RNA copy of DNA. During the early 1960s, Spiegelman and coworkers employed hybridization to investigate the origin of RNAs found in cells. They operationally defined messenger RNA and elucidated several aspects of genome organization. For Spiegelman, this was the culmination of his longstanding interest in the mechanism of enzyme/protein synthesis; for Hall, it was the beginning of a successful career in genetics. Other scientists immediately recognized the power of the technique and introduced improvements. In 1965, Gillespie and Spiegelman combined several modifications and described a procedure for hybridization that became standard. Since the 1970s, it has become an essential tool in biology and in biotechnology, and a core component in molecular techniques such as DNA microarrays. Notwithstanding its current success, the inventors' names have disappeared from the literature. This curiosity is discussed.}, }
@article {pmid26205203, year = {2015}, author = {Zwart, H}, title = {The Third Man: comparative analysis of a science autobiography and a cinema classic as windows into post-war life sciences research.}, journal = {History and philosophy of the life sciences}, volume = {37}, number = {4}, pages = {382-412}, pmid = {26205203}, issn = {0391-9714}, mesh = {*Autobiographies as Topic ; DNA/analysis/*history ; Genetics/*history ; History, 20th Century ; *Motion Pictures ; Philosophy ; United Kingdom ; Warfare ; }, abstract = {In 2003, biophysicist and Nobel Laureate Maurice Wilkins published his autobiography entitled The Third Man. In the preface, he diffidently points out that the title (which presents him as the 'third' man credited with the co-discovery of the structure of DNA, besides Watson and Crick) was chosen by his publisher, as a reference to the famous 1949 movie no doubt, featuring Orson Welles in his classical role as penicillin racketeer Harry Lime. In this paper I intend to show that there is much more to this title than merely its familiar ring. If subjected to a (psychoanalytically inspired) comparative analysis, multiple correspondences between movie and memoirs can be brought to the fore. Taken together, these documents shed an intriguing light on the vicissitudes of budding life sciences research during the post-war era. I will focus my comparative analysis on issues still relevant today, such as dual use, the handling of sensitive scientific information (in a moral setting defined by the tension between collaboration and competition) and, finally, on the interwovenness of science and warfare (i.e. the 'militarisation' of research and the relationship between beauty and destruction). Thus, I will explain how science autobiographies on the one hand and genres of the imagination (such as novels and movies) on the other may deepen our comprehension of tensions and dilemmas of life sciences research then and now. For that reason, science autobiographies can provide valuable input (case material) for teaching philosophy and history of science to science students.}, }
@article {pmid26191563, year = {2014}, author = {}, title = {Special issue dedicated to John Loehlin.}, journal = {Behavior genetics}, volume = {44}, number = {6}, pages = {547-695}, pmid = {26191563}, issn = {1573-3297}, mesh = {Genetics, Behavioral/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26190636, year = {2015}, author = {Brunori, M}, title = {Half a Century of Hemoglobin's Allostery.}, journal = {Biophysical journal}, volume = {109}, number = {6}, pages = {1077-1079}, pmid = {26190636}, issn = {1542-0086}, mesh = {Allosteric Regulation ; Carbon Monoxide/metabolism ; Hemoglobins/*chemistry/*metabolism ; History, 20th Century ; History, 21st Century ; Humans ; *Models, Molecular ; Molecular Biology/history ; Oxygen/metabolism ; Protein Structure, Tertiary ; }, }
@article {pmid26183796, year = {2015}, author = {Wood, RJ}, title = {Darbishire expands his vision of heredity from Mendelian genetics to inherited memory.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {53}, number = {}, pages = {16-39}, doi = {10.1016/j.shpsc.2015.06.001}, pmid = {26183796}, issn = {1879-2499}, mesh = {England ; Female ; Genetics/*history ; *Heredity ; History, 19th Century ; History, 20th Century ; Humans ; *Memory ; }, abstract = {The British biologist A.D. Darbishire (1879-1915) responded to the rediscovery in 1900 of Mendel's theory of heredity by testing it experimentally, first in Oxford, then in Manchester and London. He summarised his conclusions in a textbook 'Breeding and the Mendelian Discovery' (1911), in which he questioned whether Mendelism alone could explain all aspects of practical breeding experience. Already he had begun to think about an alternative theory to give greater emphasis to the widely held conviction among breeders regarding the inheritance of characteristics acquired during an individual's life. Redefining heredity in terms of a germ-plasm based biological memory, he used vocabulary drawn partly from sources outside conventional science, including the metaphysical/vitalistic writings of Samuel Butler and Henri Bergson. An evolving hereditary memory fitted well with the conception of breeding as a creative art aimed at greater economic efficiency. For evolution beyond human control he proposed a self-modifying process, claiming it to surpass in efficiency the chancy mechanism of natural selection proposed by Darwin. From his writings, including early chapters of an unfinished book entitled 'An Introduction to a Biology', we consider how he reached these concepts and how they relate to later advances in understanding the genome and the genetic programme.}, }
@article {pmid26181810, year = {2015}, author = {Ptashne, M and Gitschier, J}, title = {Irrepressible: An Interview with Mark Ptashne.}, journal = {PLoS genetics}, volume = {11}, number = {7}, pages = {e1005351}, doi = {10.1371/journal.pgen.1005351}, pmid = {26181810}, issn = {1553-7404}, mesh = {History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid26180852, year = {2015}, author = {Sanmann, JN and McGavran, L and Patil, SR}, title = {In Memoriam: Warren G. Sanger, PhD (October 6, 1945-February 5, 2015).}, journal = {Cancer genetics}, volume = {208}, number = {4}, pages = {105-106}, doi = {10.1016/j.cancergen.2015.03.002}, pmid = {26180852}, issn = {2210-7762}, mesh = {Cytogenetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; United States ; }, }
@article {pmid26177732, year = {2015}, author = {Opitz, JM}, title = {An inner god: BEN E. KATZ (1921-2015) as geneticist.}, journal = {American journal of medical genetics. Part A}, volume = {167A}, number = {11}, pages = {2516-2519}, doi = {10.1002/ajmg.a.37216}, pmid = {26177732}, issn = {1552-4833}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; United States ; }, }
@article {pmid26172373, year = {2015}, author = {Perlman, S}, title = {Research Driven by Curiosity: The Journey from Basic Molecular Biology and Virology to Studies of Human Pathogenic Coronaviruses.}, journal = {PLoS pathogens}, volume = {11}, number = {7}, pages = {e1005023}, doi = {10.1371/journal.ppat.1005023}, pmid = {26172373}, issn = {1553-7374}, support = {P01 AI060699/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; *Biomedical Research/history ; *Coronaviridae ; *Coronaviridae Infections ; History, 20th Century ; History, 21st Century ; Humans ; *Molecular Biology/history ; }, }
@article {pmid26170444, year = {2015}, author = {Peluffo, AE}, title = {The "Genetic Program": Behind the Genesis of an Influential Metaphor.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {685-696}, pmid = {26170444}, issn = {1943-2631}, mesh = {Genetics/*history ; Genome ; History, 20th Century ; *Metaphor ; Phenotype ; *Terminology as Topic ; }, abstract = {The metaphor of the "genetic program," indicating the genome as a set of instructions required to build a phenotype, has been very influential in biology despite various criticisms over the years. This metaphor, first published in 1961, is thought to have been invented independently in two different articles, one by Ernst Mayr and the other by François Jacob and Jacques Monod. Here, after a detailed analysis of what both parties meant by "genetic program," I show, using unpublished archives, the strong resemblance between the ideas of Mayr and Monod and suggest that their idea of genetic program probably shares a common origin. I explore the possibility that the two men met before 1961 and also exchanged their ideas through common friends and colleagues in the field of molecular biology. Based on unpublished correspondence of Jacob and Monod, I highlight the important events that influenced the preparation of their influential paper, which introduced the concept of the genetic program. Finally, I suggest that the genetic program metaphor may have preceded both papers and that it was probably used informally before 1961.}, }
@article {pmid26170442, year = {2015}, author = {Biggins, S}, title = {Under Tension: Kinetochores and Basic Research.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {681-682}, pmid = {26170442}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Kinetochores ; Societies, Scientific ; Spindle Apparatus ; United States ; }, abstract = {The Genetics Society of America's Edward Novitski Prize recognizes an extraordinary level of creativity and intellectual ingenuity in the solution of significant problems in genetics research. The 2015 winner, Sue Biggins, has made significant contributions to our understanding of how chromosomes attach to the mitotic spindle, a process essential for cell division and frequently impaired in cancer. Among other achievements, Biggins was the first to demonstrate that the Aurora B protein kinase is a key regulator of kinetochore function and that chromatin composition and centromere identity can be regulated by histone proteolysis. In 2010, Biggins and her colleagues were the first to purify kinetochores and, using this system, have already made several groundbreaking discoveries about the function and structure of these crucial components of the segregation machinery.}, }
@article {pmid26170441, year = {2015}, author = {Stark, LA}, title = {Science Translator: An Interview with Louisa Stark.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {679-680}, doi = {10.1534/genetics.115.178459}, pmid = {26170441}, issn = {1943-2631}, support = {//Howard Hughes Medical Institute/United States ; }, mesh = {*Awards and Prizes ; Education, Professional ; Genetics/education/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {The Genetics Society of America's Elizabeth W. Jones Award for Excellence in Education recognizes significant and sustained impact on genetics education. The 2015 awardee, Louisa Stark, has made a major impact on global access to genetics education through her work as director of the University of Utah Genetic Science Learning Center. The Center's Learn.Genetics and Teach.Genetics websites are the most widely used online genetic education resources in the world. In 2014, they were visited by 18 million students, educators, scientists, and members of the public. With over 60 million page views annually, Learn.Genetics is among the most used sites on the Web.}, }
@article {pmid26170440, year = {2015}, author = {Postlethwait, JH}, title = {"Wrecks of Ancient Life": Genetic Variants Vetted by Natural Selection.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {675-678}, pmid = {26170440}, issn = {1943-2631}, mesh = {Animals ; *Awards and Prizes ; Genetic Variation ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Physical Chromosome Mapping/history ; Selection, Genetic ; Sequence Analysis, DNA/history ; Societies, Scientific ; United States ; Zebrafish/genetics ; }, abstract = {The Genetics Society of America's 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 as a respected academic, administrator, and public servant. The 2015 recipient is John Postlethwait. He has made groundbreaking contributions in developing the zebrafish as a molecular genetic model and in understanding the evolution of new gene functions in vertebrates. He built the first zebrafish genetic map and showed that its genome, along with that of distantly related teleost fish, had been duplicated. Postlethwait played an integral role in the zebrafish genome-sequencing project and elucidated the genomic organization of several fish species. Postlethwait is also honored for his active involvement with the zebrafish community, advocacy for zebrafish as a model system, and commitment to driving the field forward.}, }
@article {pmid26170439, year = {2015}, author = {Henikoff, S}, title = {The Genetic Map Enters Its Second Century.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {671-674}, pmid = {26170439}, issn = {1943-2631}, mesh = {*Awards and Prizes ; Centromere ; Epigenesis, Genetic ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {The Genetics Society of America (GSA) Medal is awarded to an individual for outstanding contributions to the field of genetics in the past 15 years. Recipients of the GSA Medal are recognized for elegant and highly meaningful contributions to modern genetics and exemplify the ingenuity of GSA members. The 2015 recipient is Steven Henikoff, whose achievements include major contributions to Drosophila genetics and epigenetics, Arabidopsis genetics and epigenetics, population and evolutionary genetics, genomic technologies, computational biology, and transcription and chromatin biology. Among these achievements, Henikoff elucidated the mechanism for position-effect variegation, revealed a central role for variant histones in nucleosome assembly at active genes, and provided new insights into genome evolution. He has also developed widely used computational tools for genome and protein analysis and new strategies for mapping chromatin-binding sites.}, }
@article {pmid26170438, year = {2015}, author = {Charlesworth, B}, title = {What Use Is Population Genetics?.}, journal = {Genetics}, volume = {200}, number = {3}, pages = {667-669}, pmid = {26170438}, issn = {1943-2631}, mesh = {Animals ; *Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; }, abstract = {The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation.}, }
@article {pmid26152175, year = {2015}, author = {Guénet, JL and Panthier, JJ and Avner, P and Heard, E and Montagutelli, X}, title = {[The legacy of Mary F. Lyon (1925-2014)].}, journal = {Medecine sciences : M/S}, volume = {31}, number = {6-7}, pages = {687-689}, doi = {10.1051/medsci/20153106024}, pmid = {26152175}, issn = {0767-0974}, mesh = {Animals ; England ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Mice ; X Chromosome/genetics ; X Chromosome Inactivation ; }, }
@article {pmid26148136, year = {2015}, author = {Kazazian, HH and Paalman, MH and Cutting, GR}, title = {In Memoriam: Richard G.H. Cotton (1940-2015).}, journal = {Human mutation}, volume = {36}, number = {8}, pages = {741-742}, doi = {10.1002/humu.22826}, pmid = {26148136}, issn = {1098-1004}, mesh = {Australia ; Genetics, Medical/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Periodicals as Topic ; }, }
@article {pmid26140447, year = {2015}, author = {Botkin, JR and Belmont, JW and Berg, JS and Berkman, BE and Bombard, Y and Holm, IA and Levy, HP and Ormond, KE and Saal, HM and Spinner, NB and Wilfond, BS and McInerney, JD}, title = {Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.}, journal = {American journal of human genetics}, volume = {97}, number = {1}, pages = {6-21}, pmid = {26140447}, issn = {1537-6605}, support = {P20 HG007249/HG/NHGRI NIH HHS/United States ; U01 HG006487/HG/NHGRI NIH HHS/United States ; UL1 TR001067/TR/NCATS NIH HHS/United States ; }, mesh = {Adolescent ; Child ; Genetic Carrier Screening ; Genetic Testing/*ethics/*legislation &amp; jurisprudence/*trends ; Genetics/*history ; Genomics/ethics/*methods ; History, 20th Century ; History, 21st Century ; Humans ; Infant, Newborn ; Informed Consent By Minors/*psychology ; Microarray Analysis/methods/trends ; Pharmacogenetics/methods ; }, abstract = {In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) jointly published a statement on genetic testing in children and adolescents. In the past 20 years, much has changed in the field of genetics, including the development of powerful new technologies, new data from genetic research on children and adolescents, and substantial clinical experience. This statement represents current opinion by the ASHG on the ethical, legal, and social issues concerning genetic testing in children. These recommendations are relevant to families, clinicians, and investigators. After a brief review of the 1995 statement and major changes in genetic technologies in recent years, this statement offers points to consider on a broad range of test technologies and their applications in clinical medicine and research. Recommendations are also made for record and communication issues in this domain and for professional education.}, }
@article {pmid26138341, year = {2015}, author = {Nicholas, FW and Mäki-Tanila, A}, title = {An important anniversary: 150 years since Mendel's laws of inheritance made their first public appearance.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {132}, number = {4}, pages = {277-280}, doi = {10.1111/jbg.12175}, pmid = {26138341}, issn = {1439-0388}, mesh = {Anniversaries and Special Events ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26135438, year = {2015}, author = {Kutschera, U}, title = {August Weismann: A prescient view of women in evolution.}, journal = {Nature}, volume = {523}, number = {7558}, pages = {35}, doi = {10.1038/523035d}, pmid = {26135438}, issn = {1476-4687}, mesh = {*Biological Evolution ; Female ; Genetics, Medical/history ; History, 19th Century ; Humans ; Male ; }, }
@article {pmid26130551, year = {2015}, author = {Ørstavik, KH}, title = {[Mary Lyon and the hypothesis on X-chromosome inactivation].}, journal = {Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke}, volume = {135}, number = {12-13}, pages = {1150-1151}, doi = {10.4045/tidsskr.15.0512}, pmid = {26130551}, issn = {0807-7096}, mesh = {England ; Female ; Genetics/*history ; History, 20th Century ; Humans ; Women ; *X Chromosome Inactivation ; }, }
@article {pmid26126273, year = {2015}, author = {Cobb, M}, title = {Who discovered messenger RNA?.}, journal = {Current biology : CB}, volume = {25}, number = {13}, pages = {R526-32}, doi = {10.1016/j.cub.2015.05.032}, pmid = {26126273}, issn = {1879-0445}, mesh = {*Cooperative Behavior ; Genetics/*history ; History, 20th Century ; Models, Genetic ; RNA, Messenger/*genetics/history ; }, abstract = {The announcement of the discovery of messenger RNA (mRNA) and the cracking of the genetic code took place within weeks of each other in a climax of scientific excitement during the summer of 1961. Although mRNA is of decisive importance to our understanding of gene function, no Nobel Prize was awarded for its discovery. The large number of people involved, the complex nature of the results, and the tortuous path that was taken over half a century ago, all show that simple claims of priority may not reflect how science works.}, }
@article {pmid26122062, year = {2015}, author = {Watts, G}, title = {Ciaran Bernard John Woodman.}, journal = {Lancet (London, England)}, volume = {385}, number = {9986}, pages = {2458}, doi = {10.1016/S0140-6736(15)61130-8}, pmid = {26122062}, issn = {1474-547X}, mesh = {Cancer Vaccines/history ; Epigenomics/history ; Female ; History, 20th Century ; History, 21st Century ; Humans ; Papillomavirus Vaccines/*history ; United Kingdom ; Uterine Cervical Neoplasms/genetics/history/prevention &amp; control ; }, }
@article {pmid26117915, year = {2015}, author = {Kobylianskiĭ, VI}, title = {[ANALYSIS OF F.M.DOSTOEVSKIĬ'S HEALTH, PERSONALITY, AND WORKS FROM THE GENETIC STANDPOINT. PART 1].}, journal = {Klinicheskaia meditsina}, volume = {93}, number = {2}, pages = {24-33}, pmid = {26117915}, issn = {0023-2149}, mesh = {Epilepsy/genetics/*history ; *Famous Persons ; Genetic Predisposition to Disease/*history ; Genetics/*history ; History, 19th Century ; Humans ; *Medicine in Literature ; *Personality ; Russia (Pre-1917) ; }, abstract = {The data on Dostoevsky's epilepsy are ambiguous and often contradictory. It prompted consideration of certain genetic aspects of the writer's pedigree for the clarification of this issue. The phenomenon of Dostoevsky's genius was for the first time contemplated from the standpoint of the contribution of genetic factors to his creative work. It was shown that Dostoevsky's ancestry can not be a source of hereditary predisposition to epilepsy. The available data question the genuine nature of his disease. Characteristic of Dostoevsky's ancestry is the wide occurrence of "creativeness" genes. Their cumulation together with a number of other factors verified in the writer can account for the phenomenon of his genius.}, }
@article {pmid26111842, year = {2015}, author = {Germann, P}, title = {[Constant or break? On the relations between human genetics and eugenics in the Twentieth Century].}, journal = {Therapeutische Umschau. Revue therapeutique}, volume = {72}, number = {7}, pages = {457-462}, doi = {10.1024/0040-5930/a000700}, pmid = {26111842}, issn = {0040-5930}, mesh = {Eugenics/*history ; Genetics, Medical/*history ; Germany ; Goiter/*genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; National Socialism/*history ; Switzerland ; }, abstract = {The history of human genetics has been a neglected topic in history of science and medicine for a long time. Only recently, have medical historians begun to pay more attention to the history of human heredity. An important research question deals with the interconnections between human genetics and eugenics. This paper addresses this question: By focusing on a Swiss case study, the investigation of the heredity of goiter, I will argue that there existed close but also ambiguous relations between heredity research and eugenics in the twentieth century. Studies on human heredity often produced evidence that challenged eugenic aims and ideas. Concurrently, however, these studies fostered visions of genetic improvement of human populations.}, }
@article {pmid26104369, year = {2014}, author = {Kado, CI}, title = {Historical Events That Spawned the Field of Plasmid Biology.}, journal = {Microbiology spectrum}, volume = {2}, number = {5}, pages = {}, doi = {10.1128/microbiolspec.PLAS-0019-2013}, pmid = {26104369}, issn = {2165-0497}, mesh = {Adaptation, Biological ; Biology/*history ; Evolution, Molecular ; *Extrachromosomal Inheritance ; Gene Transfer, Horizontal ; Genetics, Microbial/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; *Plasmids ; Selection, Genetic ; }, abstract = {This chapter revisits the historical development and outcome of studies focused on the transmissible, extrachromosomal genetic elements called plasmids. Early work on plasmids involved structural and genetic mapping of these molecules, followed by the development of an understanding of how plasmids replicate and segregate during cell division. The intriguing property of plasmid transmission between bacteria and between bacteria and higher cells has received considerable attention. The utilitarian aspects of plasmids are described, including examples of various plasmid vector systems. This chapter also discusses the functional attributes of plasmids needed for their persistence and survival in nature and in man-made environments. The term plasmid biology was first conceived at the Fallen Leaf Lake Conference on Promiscuous Plasmids, 1990, Lake Tahoe, California. The International Society for Plasmid Biology was established in 2004 (www.ISPB.org).}, }
@article {pmid26096544, year = {2016}, author = {Puchta, H}, title = {Breaking DNA in plants: how I almost missed my personal breakthrough.}, journal = {Plant biotechnology journal}, volume = {14}, number = {2}, pages = {437-440}, doi = {10.1111/pbi.12420}, pmid = {26096544}, issn = {1467-7652}, mesh = {Biotechnology ; *DNA Breaks, Double-Stranded ; DNA, Plant/*genetics ; Genome, Plant ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Viroids/genetics ; }, }
@article {pmid26094058, year = {2015}, author = {Tanghe, KB}, title = {Mendel at the sesquicentennial of 'Versuche über Pflanzen-Hybriden' (1865): The root of the biggest legend in the history of science.}, journal = {Endeavour}, volume = {39}, number = {2}, pages = {106-115}, doi = {10.1016/j.endeavour.2015.05.004}, pmid = {26094058}, issn = {1873-1929}, mesh = {Genetics/*history ; History, 19th Century ; Humans ; Male ; Mythology/*psychology ; }, abstract = {In 1965, Mendel was still celebrated as the undisputed founder of genetics. In the ensuing 50 years, scholars questioned and undermined this traditional interpretation of his experiments with hybrid plants, without, however, managing to replace it: at the sesquicentennial of the presentation of his 'Versuche' (1865), the Moravian friar remains, to a vast majority, the heroic Father of genetics or at least some kind of geneticist. This exceptionally inert myth is nourished by ontological intuitions but can only continue to flourish, thanks to a long-standing conceptual void in the historiography of biology. It is merely a symptom of this more fundamental problem.}, }
@article {pmid26090739, year = {2015}, author = {Nelson, NC}, title = {A Knockout Experiment: Disciplinary Divides and Experimental Skill in Animal Behaviour Genetics.}, journal = {Medical history}, volume = {59}, number = {3}, pages = {465-485}, pmid = {26090739}, issn = {2048-8343}, mesh = {Animals ; *Behavior, Animal ; Biomedical Research/*history/standards ; Genetics, Behavioral/*history ; History, 20th Century ; Mice ; Mice, Knockout ; Models, Animal ; Molecular Biology/*history ; Professional Competence ; }, abstract = {In the early 1990s, a set of new techniques for manipulating mouse DNA allowed researchers to 'knock out' specific genes and observe the effects of removing them on a live mouse. In animal behaviour genetics, questions about how to deploy these techniques to study the molecular basis of behaviour became quite controversial, with a number of key methodological issues dissecting the interdisciplinary research field along disciplinary lines. This paper examines debates that took place during the 1990s between a predominately North American group of molecular biologists and animal behaviourists around how to design, conduct, and interpret behavioural knockout experiments. Drawing from and extending Harry Collins's work on how research communities negotiate what counts as a 'well-done experiment,' I argue that the positions practitioners took on questions of experimental skill reflected not only the experimental traditions they were trained in but also their differing ontological and epistemological commitments. Different assumptions about the nature of gene action, eg., were tied to different positions in the knockout mouse debates on how to implement experimental controls. I conclude by showing that examining representations of skill in the context of a community's knowledge commitments sheds light on some of the contradictory ways in which contemporary animal behaviour geneticists talk about their own laboratory work as a highly skilled endeavour that also could be mechanised, as easy to perform and yet difficult to perform well.}, }
@article {pmid26089021, year = {2015}, author = {Self, A and Etienne-Manneville, S}, title = {Alan Hall (1952-2015), an Englishman in New York.}, journal = {The EMBO journal}, volume = {34}, number = {13}, pages = {1735-1736}, doi = {10.15252/embj.201570020}, pmid = {26089021}, issn = {1460-2075}, mesh = {*Biochemistry/history ; Biomedical Research/history ; Emigrants and Immigrants ; History, 20th Century ; History, 21st Century ; Humans ; Interferons/genetics ; *Laboratory Personnel ; *Medical Oncology/history ; Molecular Biology/history ; New York City ; United Kingdom ; }, }
@article {pmid26088923, year = {2015}, author = {Hackam, DJ}, title = {The dawn of the third renaissance in surgery.}, journal = {Surgery}, volume = {158}, number = {2}, pages = {317-322}, doi = {10.1016/j.surg.2015.05.001}, pmid = {26088923}, issn = {1532-7361}, mesh = {Computers/history ; Creativity ; Europe ; General Surgery/*history ; History, 17th Century ; History, 20th Century ; History, 21st Century ; Human Genome Project/history ; Humans ; Inventions/history ; Printing/history/instrumentation ; Textbooks as Topic/history ; United States ; }, abstract = {In this presidential address, I will share my belief that our proud and noble field stands at the dawn of a great renaissance. I further believe that this is the third such renaissance that has occurred in surgery. As described herein, the first renaissance in surgery occurred during the 1600s, which involved a transformation in operative care unlike anything that had been seen since Roman times. This first renaissance was triggered by tumultuous world events but was spurred on by the invention of the printing press. The second renaissance occurred during the 1980s and was triggered by the invention of the computer, which is of equal significance to the printing press 240 years earlier. I believe that this third renaissance shares with the earlier renaissances its transformative nature and its reaction to turmoil, both in the medical and nonmedical worlds. This is a renaissance driven by science, by creativity, and by innovation—resources that are never in short supply within our great profession.}, }
@article {pmid26088490, year = {2015}, author = {Snyder, A}, title = {Alexander Rich.}, journal = {Lancet (London, England)}, volume = {385}, number = {9984}, pages = {2248}, doi = {10.1016/S0140-6736(15)61056-X}, pmid = {26088490}, issn = {1474-547X}, mesh = {Biophysics/*history ; History, 20th Century ; History, 21st Century ; Massachusetts ; Molecular Biology/*history ; }, }
@article {pmid26087616, year = {2015}, author = {Shestakov, SV}, title = {[On the 50th Anniversary of the "Genetika"].}, journal = {Genetika}, volume = {51}, number = {4}, pages = {395-396}, pmid = {26087616}, issn = {0016-6758}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; Periodicals as Topic/history ; }, }
@article {pmid26086052, year = {2015}, author = {MacIntyre, RJ and Gearhart, JD and Effron, JW and O' Brien, SJ and Fogleman, J}, title = {In Memory of Bruce Wallace: 1920–2015.}, journal = {The Journal of heredity}, volume = {106}, number = {3}, pages = {331-332}, doi = {10.1093/jhered/esv024}, pmid = {26086052}, issn = {1465-7333}, mesh = {Animals ; Drosophila melanogaster/genetics ; Genetics/*history ; Genetics, Population ; History, 20th Century ; History, 21st Century ; }, }
@article {pmid26073145, year = {2015}, author = {Gayon, J and Gros, F and Morange, M}, title = {Jacques Monod: fifty years after - foreword.}, journal = {Comptes rendus biologies}, volume = {338}, number = {6}, pages = {369-371}, doi = {10.1016/j.crvi.2015.05.002}, pmid = {26073145}, issn = {1768-3238}, mesh = {Enzymes/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Nobel Prize ; }, }
@article {pmid26065680, year = {2015}, author = {Gryglewski, G}, title = {[Gregor Gryglewski is Researcher of the Month, June 2015].}, journal = {Wiener klinische Wochenschrift}, volume = {127}, number = {11-12}, pages = {499-500}, doi = {10.1007/s00508-015-0826-3}, pmid = {26065680}, issn = {1613-7671}, mesh = {Austria ; *Awards and Prizes ; Depression/*history ; History, 21st Century ; Molecular Biology/*history ; Molecular Imaging/*history ; Neurosciences/*history ; }, }
@article {pmid26065265, year = {2015}, author = {Broude, N and Frolova, LIu and Rubtsov, PM}, title = {[In memory of Tat'iana Valdimirovna Venkstern].}, journal = {Molekuliarnaia biologiia}, volume = {49}, number = {2}, pages = {366-367}, pmid = {26065265}, issn = {0026-8984}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; Russia ; }, }
@article {pmid26057974, year = {2015}, author = {Zhang, S and Wittig, B}, title = {Alexander Rich 1924-2015.}, journal = {Nature biotechnology}, volume = {33}, number = {6}, pages = {593-598}, pmid = {26057974}, issn = {1546-1696}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; }, }
@article {pmid26056161, year = {2015}, author = {Perbal, L}, title = {The case of the gene: Postgenomics between modernity and postmodernity.}, journal = {EMBO reports}, volume = {16}, number = {7}, pages = {777-781}, pmid = {26056161}, issn = {1469-3178}, mesh = {*Genes ; Genetic Research ; *Genetics/history/trends ; *Genomics/history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Postmodernism ; }, }
@article {pmid26050426, year = {2015}, author = {Gilgenkrantz, S}, title = {[Jacques Monod: some unpublished pages of his life].}, journal = {Histoire des sciences medicales}, volume = {49}, number = {1}, pages = {41-51}, pmid = {26050426}, issn = {0440-8888}, mesh = {Correspondence as Topic/*history ; *Famous Persons ; France ; History, 20th Century ; Interpersonal Relations/history ; Literature, Modern/*history ; Molecular Biology/*history ; World War II ; }, abstract = {The friendship and affinity of thought between Albert Camus and Jacques Monod were little highlighted in France. A book published in the U.S. in 2013 over the period of the Second World War in France shows their importance. It seemed useful to collect the elements of correspondence and writings reflecting their common concerns,frequent meetings and friendship.}, }
@article {pmid26046976, year = {2015}, author = {Matijašević, Z and Zeiger, E}, title = {Marija Alačević (April 19, 1929-February 25, 2015).}, journal = {Mutation research. Genetic toxicology and environmental mutagenesis}, volume = {784-785}, number = {}, pages = {45-46}, doi = {10.1016/j.mrgentox.2015.03.014}, pmid = {26046976}, issn = {1879-3592}, mesh = {Biotechnology/*history ; Genetics, Microbial/*history ; History, 20th Century ; History, 21st Century ; Humans ; Streptomyces ; Yugoslavia ; }, }
@article {pmid26042238, year = {2015}, author = {Rosbash, M}, title = {Ronald J. Konopka (1947–2015).}, journal = {Cell}, volume = {161}, number = {2}, pages = {187-188}, doi = {10.1016/j.cell.2015.03.038}, pmid = {26042238}, issn = {1097-4172}, mesh = {Animals ; Biology/*history ; *Circadian Rhythm ; Genetics/history ; History, 20th Century ; History, 21st Century ; Huntington Disease/genetics/history ; United States ; }, }
@article {pmid26035858, year = {2015}, author = {Boycott, K and Cifra, A}, title = {Looking for a needle in a haystack--tackling rare diseases: an interview with Kym Boycott.}, journal = {Disease models &amp; mechanisms}, volume = {8}, number = {5}, pages = {417-419}, doi = {10.1242/dmm.020925}, pmid = {26035858}, issn = {1754-8411}, mesh = {Animals ; Canada ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Rare Diseases/*genetics ; }, }
@article {pmid26035802, year = {2015}, author = {Simpson, JL}, title = {Reproducing genetics.}, journal = {Genetics in medicine : official journal of the American College of Medical Genetics}, volume = {17}, number = {6}, pages = {512-514}, pmid = {26035802}, issn = {1530-0366}, mesh = {*Genetics, Medical/history ; History, 20th Century ; History, 21st Century ; Humans ; Obstetrics and Gynecology Department, Hospital ; Prenatal Diagnosis ; *Reproduction/genetics ; }, }
@article {pmid26031601, year = {2016}, author = {Widdig, A and Kessler, MJ and Bercovitch, FB and Berard, JD and Duggleby, C and Nürnberg, P and Rawlins, RG and Sauermann, U and Wang, Q and Krawczak, M and Schmidtke, J}, title = {Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research.}, journal = {American journal of primatology}, volume = {78}, number = {1}, pages = {44-62}, doi = {10.1002/ajp.22424}, pmid = {26031601}, issn = {1098-2345}, support = {P40-RR-01293/RR/NCRR NIH HHS/United States ; P40-RR-03640/RR/NCRR NIH HHS/United States ; RR-712003/RR/NCRR NIH HHS/United States ; RR-72115/RR/NCRR NIH HHS/United States ; }, mesh = {Animals ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Macaca mulatta/*genetics ; Puerto Rico ; }, abstract = {Genetic studies not only contribute substantially to our current understanding of the natural variation in behavior and health in many species, they also provide the basis of numerous in vivo models of human traits. Despite the many challenges posed by the high level of biological and social complexity, a long lifespan and difficult access in the field, genetic studies of primates are particularly rewarding because of the close evolutionary relatedness of these species to humans. The free-ranging rhesus macaque (Macaca mulatta) population on Cayo Santiago (CS), Puerto Rico, provides a unique resource in this respect because several of the abovementioned caveats are of either minor importance there, or lacking altogether, thereby allowing long-term genetic research in a primate population under constant surveillance since 1956. This review summarizes more than 40 years of genetic research carried out on CS, from early blood group typing and the genetic characterization of skeletal material via population-wide paternity testing with DNA fingerprints and short tandem repeats (STRs) to the analysis of the highly polymorphic DQB1 locus within the major histocompatibility complex (MHC). The results of the paternity studies also facilitated subsequent studies of male dominance and other factors influencing male reproductive success, of male reproductive skew, paternal kin bias, and mechanisms of paternal kin recognition. More recently, the CS macaques have been the subjects of functional genetic and gene expression analyses and have played an important role in behavioral and quantitative genetic studies. In addition, the CS colony has been used as a natural model for human adult-onset macular degeneration, glaucoma, and circadian rhythm disorder. Our review finishes off with a discussion of potential future directions of research on CS, including the transition from STRs to single nucleotide polymorphism (SNP) typing and whole genome sequencing.}, }
@article {pmid26031181, year = {2014}, author = {Barahona, A}, title = {[The program of Genetics and radiobiology of the National Commission of Nuclear Ener