ALBERT

Description: We generated genome-wide data from 69 Europeans who lived between 8,000-3,000 years ago by enriching ancient DNA libraries for a target set of almost 400,000 polymorphisms. Enrichment of these positions decreases the sequencing required for genome-wide ancient DNA analysis by a median of around 250-fold, allowing us to study an order of magnitude more individuals than previous studies and to obtain new insights about the past. We show that the populations of Western and Far Eastern Europe followed opposite trajectories between 8,000-5,000 years ago. At the beginning of the Neolithic period in Europe, approximately 8,000-7,000 years ago, closely related groups of early farmers appeared in Germany, Hungary and Spain, different from indigenous hunter-gatherers, whereas Russia was inhabited by a distinctive population of hunter-gatherers with high affinity to a approximately 24,000-year-old Siberian. By approximately 6,000-5,000 years ago, farmers throughout much of Europe had more hunter-gatherer ancestry than their predecessors, but in Russia, the Yamnaya steppe herders of this time were descended not only from the preceding eastern European hunter-gatherers, but also from a population of Near Eastern ancestry. Western and Eastern Europe came into contact approximately 4,500 years ago, as the Late Neolithic Corded Ware people from Germany traced approximately 75% of their ancestry to the Yamnaya, documenting a massive migration into the heartland of Europe from its eastern periphery. This steppe ancestry persisted in all sampled central Europeans until at least approximately 3,000 years ago, and is ubiquitous in present-day Europeans. These results provide support for a steppe origin of at least some of the Indo-European languages of Europe.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Haak, Wolfgang -- Lazaridis, Iosif -- Patterson, Nick -- Rohland, Nadin -- Mallick, Swapan -- Llamas, Bastien -- Brandt, Guido -- Nordenfelt, Susanne -- Harney, Eadaoin -- Stewardson, Kristin -- Fu, Qiaomei -- Mittnik, Alissa -- Banffy, Eszter -- Economou, Christos -- Francken, Michael -- Friederich, Susanne -- Pena, Rafael Garrido -- Hallgren, Fredrik -- Khartanovich, Valery -- Khokhlov, Aleksandr -- Kunst, Michael -- Kuznetsov, Pavel -- Meller, Harald -- Mochalov, Oleg -- Moiseyev, Vayacheslav -- Nicklisch, Nicole -- Pichler, Sandra L -- Risch, Roberto -- Rojo Guerra, Manuel A -- Roth, Christina -- Szecsenyi-Nagy, Anna -- Wahl, Joachim -- Meyer, Matthias -- Krause, Johannes -- Brown, Dorcas -- Anthony, David -- Cooper, Alan -- Alt, Kurt Werner -- Reich, David -- GM100233/GM/NIGMS NIH HHS/ -- R01 HG006399/HG/NHGRI NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2015 Jun 11;522(7555):207-11. doi: 10.1038/nature14317. Epub 2015 Mar 2.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Australian Centre for Ancient DNA, School of Earth and Environmental Sciences &Environment Institute, University of Adelaide, Adelaide, South Australia 5005, Australia. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA [2] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. ; Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. ; 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. ; Institute of Anthropology, Johannes Gutenberg University of Mainz, D-55128 Mainz, Germany. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA [2] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA [3] Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany [4] Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, IVPP, CAS, Beijing 100049, China. ; Institute for Archaeological Sciences, University of Tubingen, D-72070 Tubingen, Germany. ; 1] Institute of Archaeology, Research Centre for the Humanities, Hungarian Academy of Science, H-1014 Budapest, Hungary [2] Romisch Germanische Kommission (RGK) Frankfurt, D-60325 Frankfurt, Germany. ; Archaeological Research Laboratory, Stockholm University, 114 18 Stockholm, Sweden. ; Departments of Paleoanthropology and Archaeogenetics, Senckenberg Center for Human Evolution and Paleoenvironment, University of Tubingen, D-72070 Tubingen, Germany. ; State Office for Heritage Management and Archaeology Saxony-Anhalt and State Museum of Prehistory, D-06114 Halle, Germany. ; Departamento de Prehistoria y Arqueologia, Facultad de Filosofia y Letras, Universidad Autonoma de Madrid, E-28049 Madrid, Spain. ; The Cultural Heritage Foundation, Vasteras 722 12, Sweden. ; Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) RAS, St Petersburg 199034, Russia. ; Volga State Academy of Social Sciences and Humanities, Samara 443099, Russia. ; Deutsches Archaeologisches Institut, Abteilung Madrid, E-28002 Madrid, Spain. ; 1] Institute of Anthropology, Johannes Gutenberg University of Mainz, D-55128 Mainz, Germany [2] State Office for Heritage Management and Archaeology Saxony-Anhalt and State Museum of Prehistory, D-06114 Halle, Germany [3] Danube Private University, A-3500 Krems, Austria. ; Institute for Prehistory and Archaeological Science, University of Basel, CH-4003 Basel, Switzerland. ; Departamento de Prehistoria, Universitat Autonoma de Barcelona, E-08193 Barcelona, Spain. ; Departamento de Prehistoria y Arqueolgia, Universidad de Valladolid, E-47002 Valladolid, Spain. ; 1] Institute of Anthropology, Johannes Gutenberg University of Mainz, D-55128 Mainz, Germany [2] Institute of Archaeology, Research Centre for the Humanities, Hungarian Academy of Science, H-1014 Budapest, Hungary. ; State Office for Cultural Heritage Management Baden-Wurttemberg, Osteology, D-78467 Konstanz, Germany. ; Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany. ; 1] Institute for Archaeological Sciences, University of Tubingen, D-72070 Tubingen, Germany [2] Departments of Paleoanthropology and Archaeogenetics, Senckenberg Center for Human Evolution and Paleoenvironment, University of Tubingen, D-72070 Tubingen, Germany [3] Max Planck Institute for the Science of Human History, D-07745 Jena, Germany. ; Anthropology Department, Hartwick College, Oneonta, New York 13820, USA. ; 1] Institute of Anthropology, Johannes Gutenberg University of Mainz, D-55128 Mainz, Germany [2] State Office for Heritage Management and Archaeology Saxony-Anhalt and State Museum of Prehistory, D-06114 Halle, Germany [3] Danube Private University, A-3500 Krems, Austria [4] Institute for Prehistory and Archaeological Science, University of Basel, CH-4003 Basel, Switzerland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25731166" target="_blank"〉PubMed〈/a〉

Description: We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30x) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality of this genome allows a direct estimation of Denisovan heterozygosity indicating that genetic diversity in these archaic hominins was extremely low. It also allows tentative dating of the specimen on the basis of "missing evolution" in its genome, detailed measurements of Denisovan and Neandertal admixture into present-day human populations, and the generation of a near-complete catalog of genetic changes that swept to high frequency in modern humans since their divergence from Denisovans.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617501/" 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/PMC3617501/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Meyer, Matthias -- Kircher, Martin -- Gansauge, Marie-Theres -- Li, Heng -- Racimo, Fernando -- Mallick, Swapan -- Schraiber, Joshua G -- Jay, Flora -- Prufer, Kay -- de Filippo, Cesare -- Sudmant, Peter H -- Alkan, Can -- Fu, Qiaomei -- Do, Ron -- Rohland, Nadin -- Tandon, Arti -- Siebauer, Michael -- Green, Richard E -- Bryc, Katarzyna -- Briggs, Adrian W -- Stenzel, Udo -- Dabney, Jesse -- Shendure, Jay -- Kitzman, Jacob -- Hammer, Michael F -- Shunkov, Michael V -- Derevianko, Anatoli P -- Patterson, Nick -- Andres, Aida M -- Eichler, Evan E -- Slatkin, Montgomery -- Reich, David -- Kelso, Janet -- Paabo, Svante -- GM100233/GM/NIGMS NIH HHS/ -- R01 GM040282/GM/NIGMS NIH HHS/ -- R01 GM100233/GM/NIGMS NIH HHS/ -- R01-GM40282/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2012 Oct 12;338(6104):222-6. doi: 10.1126/science.1224344. Epub 2012 Aug 30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany. mmeyer@eva.mpg.de〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22936568" target="_blank"〉PubMed〈/a〉

Description: We show that sex steroids protect the adult murine skeleton through a mechanism that is distinct from that used to preserve the mass and function of reproductive organs. The classical genotropic actions of sex steroid receptors are dispensable for their bone protective effects, but essential for their effects on reproductive tissues. A synthetic ligand (4-estren-3alpha,17beta-diol) that reproduces the nongenotropic effects of sex steroids, without affecting classical transcription, increases bone mass and strength in ovariectomized females above the level of the estrogen-replete state and is at least as effective as dihydrotestosterone in orchidectomized males, without affecting reproductive organs. Such ligands merit investigation as potential therapeutic alternatives to hormone replacement for osteoporosis in both women and men [corrected].〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kousteni, S -- Chen, J R -- Bellido, T -- Han, L -- Ali, A A -- O'Brien, C A -- Plotkin, L -- Fu, Q -- Mancino, A T -- Wen, Y -- Vertino, A M -- Powers, C C -- Stewart, S A -- Ebert, R -- Parfitt, A M -- Weinstein, R S -- Jilka, R L -- Manolagas, S C -- KO2-AR02127/AR/NIAMS NIH HHS/ -- P01-AG13918/AG/NIA NIH HHS/ -- New York, N.Y. -- Science. 2002 Oct 25;298(5594):843-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Division of Endocrinology and Metabolism, Department of Internal Medicine, and Center for Osteoporosis and Metabolic Bone Diseases, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12399595" target="_blank"〉PubMed〈/a〉

Description: We present the high-quality genome sequence of a approximately 45,000-year-old modern human male from Siberia. This individual derives from a population that lived before-or simultaneously with-the separation of the populations in western and eastern Eurasia and carries a similar amount of Neanderthal ancestry as present-day Eurasians. However, the genomic segments of Neanderthal ancestry are substantially longer than those observed in present-day individuals, indicating that Neanderthal gene flow into the ancestors of this individual occurred 7,000-13,000 years before he lived. We estimate an autosomal mutation rate of 0.4 x 10(-9) to 0.6 x 10(-9) per site per year, a Y chromosomal mutation rate of 0.7 x 10(-9) to 0.9 x 10(-9) per site per year based on the additional substitutions that have occurred in present-day non-Africans compared to this genome, and a mitochondrial mutation rate of 1.8 x 10(-8) to 3.2 x 10(-8) per site per year based on the age of the bone.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753769/" 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/PMC4753769/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Fu, Qiaomei -- Li, Heng -- Moorjani, Priya -- Jay, Flora -- Slepchenko, Sergey M -- Bondarev, Aleksei A -- Johnson, Philip L F -- Aximu-Petri, Ayinuer -- Prufer, Kay -- de Filippo, Cesare -- Meyer, Matthias -- Zwyns, Nicolas -- Salazar-Garcia, Domingo C -- Kuzmin, Yaroslav V -- Keates, Susan G -- Kosintsev, Pavel A -- Razhev, Dmitry I -- Richards, Michael P -- Peristov, Nikolai V -- Lachmann, Michael -- Douka, Katerina -- Higham, Thomas F G -- Slatkin, Montgomery -- Hublin, Jean-Jacques -- Reich, David -- Kelso, Janet -- Viola, T Bence -- Paabo, Svante -- F32 GM115006/GM/NIGMS NIH HHS/ -- GM100233/GM/NIGMS NIH HHS/ -- K99 GM104158/GM/NIGMS NIH HHS/ -- K99-GM104158/GM/NIGMS NIH HHS/ -- R01 GM100233/GM/NIGMS NIH HHS/ -- R01-GM40282/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2014 Oct 23;514(7523):445-9. doi: 10.1038/nature13810.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, IVPP, CAS, Beijing 100044, China [2] Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D-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. ; 1] Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA [2] Department of Biological Sciences, Columbia University, New York, New York 10027, USA. ; Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA. ; Institute for Problems of the Development of the North, Siberian Branch of the Russian Academy of Sciences, Tyumen 625026, Russia. ; Expert Criminalistics Center, Omsk Division of the Ministry of Internal Affairs, Omsk 644007, Russia. ; Department of Biology, Emory University, Atlanta, Georgia 30322, USA. ; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany. ; 1] Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany [2] Department of Anthropology, University of California, Davis, California 95616, USA. ; 1] Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany [2] Department of Archaeology, University of Cape Town, Cape Town 7701, South Africa [3] Departament de Prehistoria i Arqueologia, Universitat de Valencia, Valencia 46010, Spain [4] Research Group on Plant Foods in Hominin Dietary Ecology, Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany. ; Institute of Geology and Mineralogy, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia. ; Institute of Plant and Animal Ecology, Urals Branch of the Russian Academy of Sciences, Yekaterinburg 620144, Russia. ; 1] Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany [2] Laboratory of Archaeology, Department of Anthropology, University of British Columbia, Vancouver, British Columbia V6T 1Z1, Canada. ; Siberian Cultural Center, Omsk 644010, Russia. ; 1] Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany [2] Santa Fe Institute, Santa Fe, New Mexico 87501, USA. ; Oxford Radiocarbon Accelerator Unit, Research Laboratory for Archaeology and the History of Art, University of Oxford, Oxford OX1 3QY, UK. ; Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, D-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. ; 1] Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany [2] Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25341783" target="_blank"〉PubMed〈/a〉

Description: With the exception of Neanderthals, from which DNA sequences of numerous individuals have now been determined, the number and genetic relationships of other hominin lineages are largely unknown. Here we report a complete mitochondrial (mt) DNA sequence retrieved from a bone excavated in 2008 in Denisova Cave in the Altai Mountains in southern Siberia. It represents a hitherto unknown type of hominin mtDNA that shares a common ancestor with anatomically modern human and Neanderthal mtDNAs about 1.0 million years ago. This indicates that it derives from a hominin migration out of Africa distinct from that of the ancestors of Neanderthals and of modern humans. The stratigraphy of the cave where the bone was found suggests that the Denisova hominin lived close in time and space with Neanderthals as well as with modern humans.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Krause, Johannes -- Fu, Qiaomei -- Good, Jeffrey M -- Viola, Bence -- Shunkov, Michael V -- Derevianko, Anatoli P -- Paabo, Svante -- England -- Nature. 2010 Apr 8;464(7290):894-7. doi: 10.1038/nature08976. Epub 2010 Mar 24.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, D-04103 Leipzig, Germany. krause@eva.mpg.de〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20336068" target="_blank"〉PubMed〈/a〉

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〉

Description: We sequenced the genomes of a approximately 7,000-year-old farmer from Germany and eight approximately 8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had approximately 44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170574/" 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/PMC4170574/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lazaridis, Iosif -- Patterson, Nick -- Mittnik, Alissa -- Renaud, Gabriel -- Mallick, Swapan -- Kirsanow, Karola -- Sudmant, Peter H -- Schraiber, Joshua G -- Castellano, Sergi -- Lipson, Mark -- Berger, Bonnie -- Economou, Christos -- Bollongino, Ruth -- Fu, Qiaomei -- Bos, Kirsten I -- Nordenfelt, Susanne -- Li, Heng -- de Filippo, Cesare -- Prufer, Kay -- Sawyer, Susanna -- Posth, Cosimo -- Haak, Wolfgang -- Hallgren, Fredrik -- Fornander, Elin -- Rohland, Nadin -- Delsate, Dominique -- Francken, Michael -- Guinet, Jean-Michel -- Wahl, Joachim -- Ayodo, George -- Babiker, Hamza A -- Bailliet, Graciela -- Balanovska, Elena -- Balanovsky, Oleg -- Barrantes, Ramiro -- Bedoya, Gabriel -- Ben-Ami, Haim -- Bene, Judit -- Berrada, Fouad -- Bravi, Claudio M -- Brisighelli, Francesca -- Busby, George B J -- Cali, Francesco -- Churnosov, Mikhail -- Cole, David E C -- Corach, Daniel -- Damba, Larissa -- van Driem, George -- Dryomov, Stanislav -- Dugoujon, Jean-Michel -- Fedorova, Sardana A -- Gallego Romero, Irene -- Gubina, Marina -- Hammer, Michael -- Henn, Brenna M -- Hervig, Tor -- Hodoglugil, Ugur -- Jha, Aashish R -- Karachanak-Yankova, Sena -- Khusainova, Rita -- Khusnutdinova, Elza -- Kittles, Rick -- Kivisild, Toomas -- Klitz, William -- Kucinskas, Vaidutis -- Kushniarevich, Alena -- Laredj, Leila -- Litvinov, Sergey -- Loukidis, Theologos -- Mahley, Robert W -- Melegh, Bela -- Metspalu, Ene -- Molina, Julio -- Mountain, Joanna -- Nakkalajarvi, Klemetti -- Nesheva, Desislava -- Nyambo, Thomas -- Osipova, Ludmila -- Parik, Juri -- Platonov, Fedor -- Posukh, Olga -- Romano, Valentino -- Rothhammer, Francisco -- Rudan, Igor -- Ruizbakiev, Ruslan -- Sahakyan, Hovhannes -- Sajantila, Antti -- Salas, Antonio -- Starikovskaya, Elena B -- Tarekegn, Ayele -- Toncheva, Draga -- Turdikulova, Shahlo -- Uktveryte, Ingrida -- Utevska, Olga -- Vasquez, Rene -- Villena, Mercedes -- Voevoda, Mikhail -- Winkler, Cheryl A -- Yepiskoposyan, Levon -- Zalloua, Pierre -- Zemunik, Tatijana -- Cooper, Alan -- Capelli, Cristian -- Thomas, Mark G -- Ruiz-Linares, Andres -- Tishkoff, Sarah A -- Singh, Lalji -- Thangaraj, Kumarasamy -- Villems, Richard -- Comas, David -- Sukernik, Rem -- Metspalu, Mait -- Meyer, Matthias -- Eichler, Evan E -- Burger, Joachim -- Slatkin, Montgomery -- Paabo, Svante -- Kelso, Janet -- Reich, David -- Krause, Johannes -- 8DP1ES022577-04/DP/NCCDPHP CDC HHS/ -- GM100233/GM/NIGMS NIH HHS/ -- GM40282/GM/NIGMS NIH HHS/ -- HG002385/HG/NHGRI NIH HHS/ -- HG004120/HG/NHGRI NIH HHS/ -- HHSN26120080001E/PHS HHS/ -- P01 HG004120/HG/NHGRI NIH HHS/ -- R01 GM100233/GM/NIGMS NIH HHS/ -- R01 HG002385/HG/NHGRI NIH HHS/ -- R01 HG006399/HG/NHGRI NIH HHS/ -- Howard Hughes Medical Institute/ -- Intramural NIH HHS/ -- England -- Nature. 2014 Sep 18;513(7518):409-13. doi: 10.1038/nature13673.〈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. ; Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. ; Institute for Archaeological Sciences, University of Tubingen, Tubingen 72074, Germany. ; Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. ; Institute of Anthropology, Johannes Gutenberg University Mainz, Mainz D-55128, Germany. ; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. ; 1] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. [2] Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA. ; Department of Mathematics and Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA. ; 1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. [2] Department of Mathematics and Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA. ; Archaeological Research Laboratory, Stockholm University, 114 18, Sweden. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. [3] Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, IVPP, CAS, Beijing 100049, China. ; Australian Centre for Ancient DNA and Environment Institute, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia 5005, Australia. ; The Cultural Heritage Foundation, Vasteras 722 12, Sweden. ; 1] National Museum of Natural History, L-2160, Luxembourg. [2] National Center of Archaeological Research, National Museum of History and Art, L-2345, Luxembourg. ; Department of Paleoanthropology, Senckenberg Center for Human Evolution and Paleoenvironment, University of Tubingen, Tubingen D-72070, Germany. ; National Museum of Natural History, L-2160, Luxembourg. ; State Office for Cultural Heritage Management Baden-Wurttemberg, Osteology, Konstanz D-78467, Germany. ; Center for Global Health and Child Development, Kisumu 40100, Kenya. ; 1] Institutes of Evolution, Immunology and Infection Research, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, UK. [2] Biochemistry Department, Faculty of Medicine, Sultan Qaboos University, Alkhod, Muscat 123, Oman. ; Laboratorio de Genetica Molecular Poblacional, Instituto Multidisciplinario de Biologia Celular (IMBICE), CCT-CONICET &CICPBA, La Plata, B1906APO, Argentina. ; Research Centre for Medical Genetics, Moscow 115478, Russia. ; 1] Research Centre for Medical Genetics, Moscow 115478, Russia. [2] Vavilov Institute for General Genetics, Moscow 119991, Russia. ; Escuela de Biologia, Universidad de Costa Rica, San Jose 2060, Costa Rica. ; Institute of Biology, Research group GENMOL, Universidad de Antioquia, Medellin, Colombia. ; Rambam Health Care Campus, Haifa 31096, Israel. ; Department of Medical Genetics and Szentagothai Research Center, University of Pecs, Pecs H-7624, Hungary. ; Al Akhawayn University in Ifrane (AUI), School of Science and Engineering, Ifrane 53000, Morocco. ; Forensic Genetics Laboratory, Institute of Legal Medicine, Universita Cattolica del Sacro Cuore, Rome 00168, Italy. ; 1] Department of Zoology, University of Oxford, Oxford OX1 3PS, UK. [2] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK. ; Laboratorio di Genetica Molecolare, IRCCS Associazione Oasi Maria SS, Troina 94018, Italy. ; Belgorod State University, Belgorod 308015, Russia. ; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario M5G 1L5, Canada. ; Servicio de Huellas Digitales Geneticas, School of Pharmacy and Biochemistry, Universidad de Buenos Aires, 1113 CABA, Argentina. ; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. ; Institute of Linguistics, University of Bern, Bern CH-3012, Switzerland. ; Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Russian Academy of Science, Siberian Branch, Novosibirsk 630090, Russia. ; Anthropologie Moleculaire et Imagerie de Synthese, CNRS UMR 5288, Universite Paul Sabatier Toulouse III, Toulouse 31000, France. ; North-Eastern Federal University and Yakut Research Center of Complex Medical Problems, Yakutsk 677013, Russia. ; Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA. ; ARL Division of Biotechnology, University of Arizona, Tucson, Arizona 85721, USA. ; Department of Ecology and Evolution, Stony Brook University, Stony Brook, New York 11794, USA. ; Department of Clinical Science, University of Bergen, Bergen 5021, Norway. ; NextBio, Illumina, Santa Clara, California 95050, USA. ; Department of Medical Genetics, National Human Genome Center, Medical University Sofia, Sofia 1431, Bulgaria. ; 1] Institute of Biochemistry and Genetics, Ufa Research Centre, Russian Academy of Sciences, Ufa 450054, Russia. [2] Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia. ; College of Medicine, University of Arizona, Tucson, Arizona 85724, USA. ; Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, UK. ; Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA. ; Department of Human and Medical Genetics, Vilnius University, Vilnius LT-08661, Lithuania. ; Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. ; Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch 67404, France. ; 1] Institute of Biochemistry and Genetics, Ufa Research Centre, Russian Academy of Sciences, Ufa 450054, Russia. [2] Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia. [3] Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. ; 1] Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK. [2] Amgen, 33 Kazantzaki Str, Ilioupolis 16342, Athens, Greece (T.L.); Banaras Hindu University, Varanasi 221 005, India (L.S.). ; Gladstone Institutes, San Francisco, California 94158, USA. ; Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. ; Centro de Investigaciones Biomedicas de Guatemala, Ciudad de Guatemala, Guatemala. ; Research Department, 23andMe, Mountain View, California 94043, USA. ; Cultural Anthropology Program, University of Oulu, Oulu 90014, Finland. ; Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam 65001, Tanzania. ; Research Institute of Health, North-Eastern Federal University, Yakutsk 677000, Russia. ; Dipartimento di Fisica e Chimica, Universita di Palermo, Palermo 90128, Italy. ; 1] Instituto de Alta Investigacion, Universidad de Tarapaca, Arica 1000000, Chile. [2] Programa de Genetica Humana ICBM Facultad de Medicina Universidad de Chile, Santiago 8320000, Chile. [3] Centro de Investigaciones del Hombre en el Desierto, Arica 1000000, Chile. ; Centre for Population Health Sciences, The University of Edinburgh Medical School, Edinburgh EH8 9AG, UK. ; 1] Institute of Immunology, Academy of Science, Tashkent 70000, Uzbekistan. [2]. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. [2] Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia. ; 1] Department of Forensic Medicine, Hjelt Institute, University of Helsinki, Helsinki 00014, Finland. [2] Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, Fort Worth, Texas 76107, USA. ; Unidade de Xenetica, Departamento de Anatomia Patoloxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenomica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galcia 15872, Spain. ; Research Fellow, Henry Stewart Group, Russell House, London WC1A 2HN, UK. ; Institute of Bioorganic Chemistry Academy of Sciences Republic of Uzbekistan, Tashkent 100125, Uzbekistan. ; Department of Genetics and Cytology, V. N. Karazin Kharkiv National University, Kharkiv 61077, Ukraine. ; 1] Instituto Boliviano de Biologia de la Altura, Universidad Mayor de San Andres, 591 2 La Paz, Bolivia. [2] UniversidadAutonoma Tomas Frias, Potosi, Bolivia. ; 1] Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. [2] Institute of Internal Medicine, Siberian Branch of Russian Academy of Medical Sciences, Novosibirsk 630089, Russia. [3] Novosibirsk State University, Novosibirsk 630090, Russia. ; Basic Research Laboratory, NCI, NIH, Frederick National Laboratory, Leidos Biomedical, Frederick, Maryland 21702, USA. ; Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia. ; 1] Lebanese American University, School of Medicine, Beirut 13-5053, Lebanon. [2] Harvard School of Public Health, Boston, Massachusetts 02115, USA. ; Department of Medical Biology, University of Split, School of Medicine, Split 21000, Croatia. ; Department of Zoology, University of Oxford, Oxford OX1 3PS, UK. ; Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK. ; Department of Biology and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. ; 1] CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500 007, India. [2] Amgen, 33 Kazantzaki Str, Ilioupolis 16342, Athens, Greece (T.L.); Banaras Hindu University, Varanasi 221 005, India (L.S.). ; CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500 007, India. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. [2] Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. [3] Estonian Academy of Sciences, Tallinn 10130, Estonia. ; Institut de Biologia Evolutiva (CSIC-UPF), Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain. ; 1] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA. ; 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. ; 1] Institute for Archaeological Sciences, University of Tubingen, Tubingen 72074, Germany. [2] Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tubingen, 72070 Tubingen, Germany. [3] Max Planck Institut fur Geschichte und Naturwissenschaften, Jena 07745, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25230663" target="_blank"〉PubMed〈/a〉

Description: Cytosine residues in mammalian DNA occur in five forms: cytosine (C), 5-methylcytosine (5mC), 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC). The ten-eleven translocation (Tet) dioxygenases convert 5mC to 5hmC, 5fC and 5caC in three consecutive, Fe(II)- and alpha-ketoglutarate-dependent oxidation reactions. The Tet family of dioxygenases is widely distributed across the tree of life, including in the heterolobosean amoeboflagellate Naegleria gruberi. The genome of Naegleria encodes homologues of mammalian DNA methyltransferase and Tet proteins. Here we study biochemically and structurally one of the Naegleria Tet-like proteins (NgTet1), which shares significant sequence conservation (approximately 14% identity or 39% similarity) with mammalian Tet1. Like mammalian Tet proteins, NgTet1 acts on 5mC and generates 5hmC, 5fC and 5caC. The crystal structure of NgTet1 in complex with DNA containing a 5mCpG site revealed that NgTet1 uses a base-flipping mechanism to access 5mC. The DNA is contacted from the minor groove and bent towards the major groove. The flipped 5mC is positioned in the active-site pocket with planar stacking contacts, Watson-Crick polar hydrogen bonds and van der Waals interactions specific for 5mC. The sequence conservation between NgTet1 and mammalian Tet1, including residues involved in structural integrity and functional significance, suggests structural conservation across phyla.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364404/" 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/PMC4364404/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hashimoto, Hideharu -- Pais, June E -- Zhang, Xing -- Saleh, Lana -- Fu, Zheng-Qing -- Dai, Nan -- Correa, Ivan R Jr -- Zheng, Yu -- Cheng, Xiaodong -- GM049245/GM/NIGMS NIH HHS/ -- GM095209/GM/NIGMS NIH HHS/ -- GM105132/GM/NIGMS NIH HHS/ -- R01 GM049245/GM/NIGMS NIH HHS/ -- R44 GM105132/GM/NIGMS NIH HHS/ -- England -- Nature. 2014 Feb 20;506(7488):391-5. doi: 10.1038/nature12905. Epub 2013 Dec 25.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Departments of Biochemistry, Emory University School of Medicine, 1510 Clifton Road, Atlanta, Georgia 30322, USA. ; New England Biolabs, 240 County Road, Ipswich, Massachusetts 01938, USA. ; 1] Department of Biochemistry & Molecular Biology, University of Georgia, Athens, Georgia 30602, USA [2] Sector 22, Advanced Photon Source, Argonne National Laboratory, Argonne, Illinois 60439, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24390346" target="_blank"〉PubMed〈/a〉

Description: Using DNA extracted from a finger bone found in Denisova Cave in southern Siberia, we have sequenced the genome of an archaic hominin to about 1.9-fold coverage. This individual is from a group that shares a common origin with Neanderthals. This population was not involved in the putative gene flow from Neanderthals into Eurasians; however, the data suggest that it contributed 4-6% of its genetic material to the genomes of present-day Melanesians. We designate this hominin population 'Denisovans' and suggest that it may have been widespread in Asia during the Late Pleistocene epoch. A tooth found in Denisova Cave carries a mitochondrial genome highly similar to that of the finger bone. This tooth shares no derived morphological features with Neanderthals or modern humans, further indicating that Denisovans have an evolutionary history distinct from Neanderthals and modern humans.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306417/" 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/PMC4306417/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Reich, David -- Green, Richard E -- Kircher, Martin -- Krause, Johannes -- Patterson, Nick -- Durand, Eric Y -- Viola, Bence -- Briggs, Adrian W -- Stenzel, Udo -- Johnson, Philip L F -- Maricic, Tomislav -- Good, Jeffrey M -- Marques-Bonet, Tomas -- Alkan, Can -- Fu, Qiaomei -- Mallick, Swapan -- Li, Heng -- Meyer, Matthias -- Eichler, Evan E -- Stoneking, Mark -- Richards, Michael -- Talamo, Sahra -- Shunkov, Michael V -- Derevianko, Anatoli P -- Hublin, Jean-Jacques -- Kelso, Janet -- Slatkin, Montgomery -- Paabo, Svante -- R01 GM040282/GM/NIGMS NIH HHS/ -- R01-GM40282/GM/NIGMS NIH HHS/ -- England -- Nature. 2010 Dec 23;468(7327):1053-60. doi: 10.1038/nature09710.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. reich@genetics.med.harvard.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21179161" target="_blank"〉PubMed〈/a〉

Description: Neanderthals are thought to have disappeared in Europe approximately 39,000-41,000 years ago but they have contributed 1-3% of the DNA of present-day people in Eurasia. Here we analyse DNA from a 37,000-42,000-year-old modern human from Pestera cu Oase, Romania. Although the specimen contains small amounts of human DNA, we use an enrichment strategy to isolate sites that are informative about its relationship to Neanderthals and present-day humans. We find that on the order of 6-9% of the genome of the Oase individual is derived from Neanderthals, more than any other modern human sequenced to date. Three chromosomal segments of Neanderthal ancestry are over 50 centimorgans in size, indicating that this individual had a Neanderthal ancestor as recently as four to six generations back. However, the Oase individual does not share more alleles with later Europeans than with East Asians, suggesting that the Oase population did not contribute substantially to later humans in Europe.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537386/" 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/PMC4537386/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Fu, Qiaomei -- Hajdinjak, Mateja -- Moldovan, Oana Teodora -- Constantin, Silviu -- Mallick, Swapan -- Skoglund, Pontus -- Patterson, Nick -- Rohland, Nadin -- Lazaridis, Iosif -- Nickel, Birgit -- Viola, Bence -- Prufer, Kay -- Meyer, Matthias -- Kelso, Janet -- Reich, David -- Paabo, Svante -- GM100233/GM/NIGMS NIH HHS/ -- R01 GM100233/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2015 Aug 13;524(7564):216-9. doi: 10.1038/nature14558. Epub 2015 Jun 22.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, IVPP, CAS, Beijing 100044, China [2] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA [3] Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. ; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. ; Emil Racovita" Institute of Speleology, Cluj Branch, 400006 Cluj, Romania. ; Emil Racovita" Institute of Speleology, Department of Geospeleology and Paleontology, 010986 Bucharest 12, Romania. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA [2] Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA [3] Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. ; Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. ; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. ; 1] Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany [2] Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany [3] Department of Anthropology, University of Toronto, Toronto, Ontario, M5S 2S2, Canada. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA [2] Broad Institute of MIT and Harvard, 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/26098372" target="_blank"〉PubMed〈/a〉