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  • 1
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    Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos (2015)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2015-04-11
    Description: Aneuploidy, the inheritance of an atypical chromosome complement, is common in early human development and is the primary cause of pregnancy loss. By screening day-3 embryos during in vitro fertilization cycles, we identified an association between aneuploidy of putative mitotic origin and linked genetic variants on chromosome 4 of maternal genomes. This associated region contains a candidate gene, Polo-like kinase 4 (PLK4), that plays a well-characterized role in centriole duplication and has the ability to alter mitotic fidelity upon minor dysregulation. Mothers with the high-risk genotypes contributed fewer embryos for testing at day 5, suggesting that their embryos are less likely to survive to blastocyst formation. The associated region coincides with a signature of a selective sweep in ancient humans, suggesting that the causal variant was either the target of selection or hitchhiked to substantial frequency.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉McCoy, Rajiv C -- Demko, Zachary -- Ryan, Allison -- Banjevic, Milena -- Hill, Matthew -- Sigurjonsson, Styrmir -- Rabinowitz, Matthew -- Fraser, Hunter B -- Petrov, Dmitri A -- R01 GM089926/GM/NIGMS NIH HHS/ -- R01 GM097415/GM/NIGMS NIH HHS/ -- R01 GM100366/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2015 Apr 10;348(6231):235-8. doi: 10.1126/science.aaa3337.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biology, Stanford University, Stanford, CA, USA. ; Natera, Inc., San Carlos, CA, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25859044" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; *Aneuploidy ; Blastomeres ; Embryo, Mammalian/*physiology ; Embryonic Development ; Fathers ; Female ; Fertilization in Vitro ; Genetic Association Studies ; Genetic Testing ; Haplotypes ; Humans ; Male ; *Mitosis ; Mothers ; Phenotype ; *Polymorphism, Single Nucleotide ; Protein-Serine-Threonine Kinases/*genetics/physiology ; Selection, Genetic ; Trophoblasts
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals (2016)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2016-03-19
    Description: Although Neandertal sequences that persist in the genomes of modern humans have been identified in Eurasians, comparable studies in people whose ancestors hybridized with both Neandertals and Denisovans are lacking. We developed an approach to identify DNA inherited from multiple archaic hominin ancestors and applied it to whole-genome sequences from 1523 geographically diverse individuals, including 35 previously unknown Island Melanesian genomes. In aggregate, we recovered 1.34 gigabases and 303 megabases of the Neandertal and Denisovan genome, respectively. We use these maps of archaic sequences to show that Neandertal admixture occurred multiple times in different non-African populations, characterize genomic regions that are significantly depleted of archaic sequences, and identify signatures of adaptive introgression.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Vernot, Benjamin -- Tucci, Serena -- Kelso, Janet -- Schraiber, Joshua G -- Wolf, Aaron B -- Gittelman, Rachel M -- Dannemann, Michael -- Grote, Steffi -- McCoy, Rajiv C -- Norton, Heather -- Scheinfeldt, Laura B -- Merriwether, David A -- Koki, George -- Friedlaender, Jonathan S -- Wakefield, Jon -- Paabo, Svante -- Akey, Joshua M -- 5R01GM110068/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2016 Apr 8;352(6282):235-9. doi: 10.1126/science.aad9416. Epub 2016 Mar 17.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genome Sciences, University of Washington, Seattle, Washington, USA. ; Department of Genome Sciences, University of Washington, Seattle, Washington, USA. Department of Life Sciences and Biotechnology, University of Ferrara, Italy. ; Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany. ; Department of Anthropology, University of Cincinnati, Cincinnati, OH, USA. ; Department of Biology and Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, PA, USA. ; Department of Anthropology, Binghamton University, Binghamton, NY, USA. ; Institute for Medical Research, Goroka, Eastern Highlands Province, Papua New Guinea. ; Department of Anthropology, Temple University, Philadelphia PA, USA. ; Department of Statistics, University of Washington, Seattle, Washington, USA. ; Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany. paabo@eva.mpg.de akeyj@uw.edu. ; Department of Genome Sciences, University of Washington, Seattle, Washington, USA. paabo@eva.mpg.de akeyj@uw.edu.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26989198" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; DNA/*genetics ; Genetic Variation ; Genome, Human/*genetics ; Humans ; Melanesia ; Neanderthals/*genetics ; Oceanic Ancestry Group/*genetics ; Sequence Analysis, DNA
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    Evolutionary history and adaptation of a human pygmy population of Flores Island, Indonesia (2018)
    American Association for the Advancement of Science (AAAS)
    In: Science
    Details
    Publication Date: 2018-08-03
    Description: Flores Island, Indonesia, was inhabited by the small-bodied hominin species Homo floresiensis , which has an unknown evolutionary relationship to modern humans. This island is also home to an extant human pygmy population. Here we describe genome-scale single-nucleotide polymorphism data and whole-genome sequences from a contemporary human pygmy population living on Flores near the cave where H. floresiensis was found. The genomes of Flores pygmies reveal a complex history of admixture with Denisovans and Neanderthals but no evidence for gene flow with other archaic hominins. Modern individuals bear the signatures of recent positive selection encompassing the FADS (fatty acid desaturase) gene cluster, likely related to diet, and polygenic selection acting on standing variation that contributed to their short-stature phenotype. Thus, multiple independent instances of hominin insular dwarfism occurred on Flores.
    Keywords: Evolution, Genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Geosciences , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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