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1. A genomic history of Aboriginal Australia.

Author

Anna-Sapfo Malaspinas, Michael C. Westaway, Craig Muller, Vitor C. Sousa, Oscar Lao, Isabel Alves, Anders Bergström, Georgios Athanasiadis, Jade Yu Cheng, Jacob E. Crawford, Tim H. Heupink, Enrico Macholdt, Stephan Peischl, Simon Rasmussen, Stephan Schiffels, Sankar Subramanian, Joanne L. Wright, Anders Albrechtsen, Chiara Barbieri, Isabelle Dupanloup, Anders Eriksson, Ashot Margaryan, Ida Moltke, Irina Pugach, Thorfinn Sand Korneliussen, Ivan P. Levkivskyi, José Víctor Moreno-Mayar, Shengyu Ni, Fernando Racimo, Martin Sikora, Yali Xue, Farhang A. Aghakhanian, Nicolas Brucato, Søren Brunak, Paula F. Campos, Warren Clark, Sturla Ellingvåg, Gudjugudju Fourmile, Pascale Gerbault, Darren Injie, George Koki, Matthew Leavesley, Betty Logan, Aubrey Lynch, Elizabeth A. Matisoo-Smith, Peter J. McAllister, Alexander J. Mentzer, Mait Metspalu, Andrea B. Migliano, Les Murgha, Maude E. Phipps, William Pomat, Doc Reynolds, Francois-Xavier Ricaut, Peter Siba, Mark G. Thomas, Thomas Wales, Colleen Ma'run Wall, Stephen J. Oppenheimer, Chris Tyler-Smith, Richard Durbin, Joe Dortch, Andrea Manica, Mikkel H. Schierup, Robert A. Foley, Marta Mirazón Lahr, Claire Bowern, Jeffrey D. Wall, Thomas Mailund, Mark Stoneking, Rasmus Nielsen, Manjinder S. Sandhu, Laurent Excoffier, David M. Lambert, and Eske Willerslev

Published
2016
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2. A genomic history of Aboriginal Australia

Author

Sankar Subramanian, David M. Lambert, Pascale Gerbault, Joe Dortch, Stephan Peischl, Marta Mirazón Lahr, Sturla Ellingvåg, Nicolas Brucato, Anna-Sapfo Malaspinas, Gudjugudju Fourmile, François-Xavier Ricaut, William Pomat, Simon Rasmussen, Mark Stoneking, Tim H. Heupink, Mait Metspalu, Michael C. Westaway, J. Víctor Moreno-Mayar, Shengyu Ni, Aubrey Lynch, Elizabeth Matisoo-Smith, Fernando Racimo, Joanne L. Wright, Anders Albrechtsen, Farhang Aghakhanian, Andrea Manica, Warren Clark, Ivan P. Levkivskyi, Yali Xue, Thomas Wales, Rasmus Nielsen, Andrea Bamberg Migliano, Alexander J. Mentzer, Craig Muller, Laurent Excoffier, Anders Bergström, Irina Pugach, Thomas Mailund, Søren Brunak, Jacob E. Crawford, Richard Durbin, Paula F. Campos, Anders Eriksson, Claire Bowern, George Koki, Enrico Macholdt, Manjinder S. Sandhu, Ashot Margaryan, Les Murgha, Betty Logan, Vitor C. Sousa, Thorfinn Sand Korneliussen, Maude E. Phipps, Jade Yu Cheng, Isabel Alves, Stephan Schiffels, Eske Willerslev, Colleen Ma Run Wall, Robert Foley, Georgios Athanasiadis, Chris Tyler-Smith, Stephen Oppenheimer, Oscar Lao, Mark G. Thomas, Ida Moltke, Darren Injie, Jeffrey D. Wall, Mikkel H. Schierup, Chiara Barbieri, Doc Reynolds, Peter McAllister, Peter Siba, Martin Sikora, Matthew Leavesley, Isabelle Dupanloup, Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U901), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Forensic Molecular Biology, ErasmusMC, Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA), Evolutionary Genetics, Environmental Futures Centre, Griffith University [Brisbane], Section of Biostatistics [Copenhagen], Department of Public Health [Copenhagen], Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU)-Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), Institute of Ecology and Evolution, University of Berne, Swedish Institute of Space Physics [Uppsala] (IRF), Institut de Biologia Evolutiva (UPF-CSIC), Human Evolution, The Wellcome Trust Sanger Institute [Cambridge], Human Genetics, Technical University of Denmark [Lyngby] (DTU), Allan Wilson Center for Molecular Ecology and Evolution, University of Auckland [Auckland], Wellcome Trust Ctr Human Genet, University of Oxford [Oxford], University of Tartu, Papua New Guinea Institute of Medical Research, Papua New Guinea of Medical Research, Wellcome Trust Genome Campus, Yale University [New Haven], Bioinformatics Research Center (BiRC), Dept Integrat Biol, Strangeways Research Laboratory, MRC, Zoological Institute - Conservation Biology, University of Bern, Section for GeoGenetics, Globe Institute, Center for Biological Sequence Analysis, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), University of Auckland [Auckland]-Massey University-University of Canterbury [Christchurch]-University of Otago [Dunedin, Nouvelle-Zélande], Papua New Guinea Institute of Medical Research (PNG-IMR), Université Nice Sophia Antipolis (1965 - 2019) (UNS), University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH)-Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH), Universität Bern [Bern] (UNIBE), Danmarks Tekniske Universitet = Technical University of Denmark (DTU), University of Oxford, Eriksson, Anders [0000-0003-3436-3726], Durbin, Richard [0000-0002-9130-1006], Manica, Andrea [0000-0003-1895-450X], Foley, Robert [0000-0003-0479-3039], Mirazon Lahr, Marta [0000-0001-5752-5770], Sandhu, Manjinder [0000-0002-2725-142X], Willerslev, Eske [0000-0002-7081-6748], and Apollo - University of Cambridge Repository

Subjects
Gene Flow, 0301 basic medicine, Native Hawaiian or Other Pacific Islander, Neanderthal, Population genetics, Human Migration, Population Dynamics, Population, Population structure, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Datasets as Topic, Tasmania, 03 medical and health sciences, 0302 clinical medicine, biology.animal, Humans, education, Denisovan, History, Ancient, Phylogeny, Language, New Guinea, education.field_of_study, Multidisciplinary, biology, Genome, Human, Human migration, business.industry, Racial Groups, Australia, New guinea, Genomics, biology.organism_classification, Data processing, Genetics, Population, 030104 developmental biology, Geography, Anthropology, Africa, Ethnology, Biological dispersal, Desert Climate, business, 030217 neurology & neurosurgery
Abstract

The population history of Aboriginal Australians remains largely uncharacterised, not least because of a lack of extensive genomic data. We generated high-coverage genomes for 83 geographically diverse Aboriginal Australians (all speakers of Pama-Nyungan languages) and 25 Papuans from the New Guinea Highlands. We find that Papuan and Aboriginal Australian ancestors diversified from each other 25-40 thousand years ago (kya), suggesting early population structure in the ancient continent of Sahul (Australia, New Guinea and Tasmania). However, all contemporary Aboriginal Australians studied descend from a single founding population that differentiated around 10-32 kya. We infer a population expansion in northeast Australia during the Holocene (past c.10 kya) associated with limited gene flow from this region to the rest of Australia. This is broadly consistent with the spread of the Pama-Nyungan languages and cultural changes taking place across the continent in the mid-Holocene. We estimate that Aboriginal Australians and Papuans diverged from Eurasians 60-100 kya, following a single out of Africa dispersal and subsequent admixture with different archaic populations. Finally, we report evidence of selection in Aboriginal Australians potentially associated with living in the desert.

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