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  • 1
    Publication Date: 2013-12-20
    Description: We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031459/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031459/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Prufer, Kay -- Racimo, Fernando -- Patterson, Nick -- Jay, Flora -- Sankararaman, Sriram -- Sawyer, Susanna -- Heinze, Anja -- Renaud, Gabriel -- Sudmant, Peter H -- de Filippo, Cesare -- Li, Heng -- Mallick, Swapan -- Dannemann, Michael -- Fu, Qiaomei -- Kircher, Martin -- Kuhlwilm, Martin -- Lachmann, Michael -- Meyer, Matthias -- Ongyerth, Matthias -- Siebauer, Michael -- Theunert, Christoph -- Tandon, Arti -- Moorjani, Priya -- Pickrell, Joseph -- Mullikin, James C -- Vohr, Samuel H -- Green, Richard E -- Hellmann, Ines -- Johnson, Philip L F -- Blanche, Helene -- Cann, Howard -- Kitzman, Jacob O -- Shendure, Jay -- Eichler, Evan E -- Lein, Ed S -- Bakken, Trygve E -- Golovanova, Liubov V -- Doronichev, Vladimir B -- Shunkov, Michael V -- Derevianko, Anatoli P -- Viola, Bence -- Slatkin, Montgomery -- Reich, David -- Kelso, Janet -- Paabo, Svante -- 59107334/Howard Hughes Medical Institute/ -- GM100233/GM/NIGMS NIH HHS/ -- HG002385/HG/NHGRI NIH HHS/ -- HG006283/HG/NHGRI NIH HHS/ -- R01 GM040282/GM/NIGMS NIH HHS/ -- R01 GM100233/GM/NIGMS NIH HHS/ -- R01 HG002385/HG/NHGRI NIH HHS/ -- R01 HG006283/HG/NHGRI NIH HHS/ -- R01-GM40282/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2014 Jan 2;505(7481):43-9. doi: 10.1038/nature12886. Epub 2013 Dec 18.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany. ; Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA. ; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. ; 1] Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA [2] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. ; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. ; 1] Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany [2] Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, Beijing 100044, China. ; 1] Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany [2] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. ; Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. ; Genome Technology Branch and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. ; Department of Biomolecular Engineering, University of California, Santa Cruz, California 95064, USA. ; 1] Max F. Perutz Laboratories, Mathematics and Bioscience Group, Campus Vienna Biocenter 5, Vienna 1030, Austria [2] Ludwig-Maximilians-Universitat Munchen, Martinsried, 82152 Munich, Germany. ; Department of Biology, Emory University, Atlanta, Georgia 30322, USA. ; Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain (CEPH), 75010 Paris, France. ; 1] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA [2] Howard Hughes Medical Institute, Seattle, Washington 98195, USA. ; Allen Institute for Brain Science, Seattle, Washington 98103, USA. ; ANO Laboratory of Prehistory 14 Linia 3-11, St. Petersburg 1990 34, Russia. ; Palaeolithic Department, Institute of Archaeology and Ethnography, Russian Academy of Sciences, Siberian Branch, 630090 Novosibirsk, Russia. ; Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany. ; 1] Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA [2] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA [3] Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24352235" target="_blank"〉PubMed〈/a〉
    Keywords: Africa ; Animals ; Caves ; DNA Copy Number Variations/genetics ; Female ; *Fossils ; Gene Flow/genetics ; Gene Frequency ; Genome/*genetics ; Heterozygote ; Humans ; Inbreeding ; Models, Genetic ; Neanderthals/classification/*genetics ; Phylogeny ; Population Density ; Siberia/ethnology ; Toe Phalanges/anatomy & histology
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 2014-01-31
    Description: Genomic studies have shown that Neanderthals interbred with modern humans, and that non-Africans today are the products of this mixture. The antiquity of Neanderthal gene flow into modern humans means that genomic regions that derive from Neanderthals in any one human today are usually less than a hundred kilobases in size. However, Neanderthal haplotypes are also distinctive enough that several studies have been able to detect Neanderthal ancestry at specific loci. We systematically infer Neanderthal haplotypes in the genomes of 1,004 present-day humans. Regions that harbour a high frequency of Neanderthal alleles are enriched for genes affecting keratin filaments, suggesting that Neanderthal alleles may have helped modern humans to adapt to non-African environments. We identify multiple Neanderthal-derived alleles that confer risk for disease, suggesting that Neanderthal alleles continue to shape human biology. An unexpected finding is that regions with reduced Neanderthal ancestry are enriched in genes, implying selection to remove genetic material derived from Neanderthals. Genes that are more highly expressed in testes than in any other tissue are especially reduced in Neanderthal ancestry, and there is an approximately fivefold reduction of Neanderthal ancestry on the X chromosome, which is known from studies of diverse species to be especially dense in male hybrid sterility genes. These results suggest that part of the explanation for genomic regions of reduced Neanderthal ancestry is Neanderthal alleles that caused decreased fertility in males when moved to a modern human genetic background.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072735/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072735/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sankararaman, Sriram -- Mallick, Swapan -- Dannemann, Michael -- Prufer, Kay -- Kelso, Janet -- Paabo, Svante -- Patterson, Nick -- Reich, David -- GM100233/GM/NIGMS NIH HHS/ -- R01 GM100233/GM/NIGMS NIH HHS/ -- R01 HG006399/HG/NHGRI NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2014 Mar 20;507(7492):354-7. doi: 10.1038/nature12961. Epub 2014 Jan 29.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA [2] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. ; Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA [2] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA [3] Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24476815" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Female ; Gene Flow/genetics ; Genetic Predisposition to Disease/*genetics ; Genome, Human/*genetics ; Genomics ; Haplotypes/genetics ; Humans ; *Hybridization, Genetic ; Infertility, Male/*genetics ; Keratins/genetics ; Male ; Neanderthals/*genetics ; Organ Specificity ; *Phylogeny ; Selection, Genetic/*genetics ; Testis/metabolism ; X Chromosome/genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
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