Genomic analyses inform on migration events during the peopling of Eurasia

Luca Pagani, Daniel John Lawson, Evelyn Jagoda, Alexander Mörseburg, Anders Eriksson, Mario Mitt, Florian Clemente, Georgi Hudjashov, Michael DeGiorgio, Lauri Saag, Jeffrey D. Wall, Alexia Cardona, Reedik Mägi, Melissa A. Wilson Sayres, Sarah Kaewert, Charlotte Inchley, Christiana L. Scheib, Mari Järve, Monika Karmin, Guy S. JacobsTiago Antao, Florin Mircea Iliescu, Alena Kushniarevich, Qasim Ayub, Chris Tyler-Smith, Yali Xue, Bayazit Yunusbayev, Kristiina Tambets, Chandana Basu Mallick, Lehti Saag, Elvira Pocheshkhova, George Andriadze, Craig Muller, Michael C. Westaway, David M. Lambert, Grigor Zoraqi, Shahlo Turdikulova, Dilbar Dalimova, Zhaxylyk Sabitov, Gazi Nurun Nahar Sultana, Joseph Lachance, Sarah Tishkoff, Kuvat Momynaliev, Jainagul Isakova, Larisa D. Damba, Marina Gubina, Pagbajabyn Nymadawa, Irina Evseeva, Lubov Atramentova, Olga Utevska, François-Xavier Ricaut, Nicolas Brucato, Herawati Sudoyo, Thierry Letellier, Murray P. Cox, Nikolay A. Barashkov, Vedrana Škaro, Lejla Mulahasanovic´, Dragan Primorac, Hovhannes Sahakyan, Maru Mormina, Christina A. Eichstaedt, Daria V. Lichman, Syafiq Abdullah, Gyaneshwer Chaubey, Joseph T. S. Wee, Evelin Mihailov, Alexandra Karunas, Sergei Litvinov, Rita Khusainova, Natalya Ekomasova, Vita Akhmetova, Irina Khidiyatova, Damir Marjanović, Levon Yepiskoposyan, Doron M. Behar, Elena Balanovska, Andres Metspalu, Miroslava Derenko, Boris Malyarchuk, Mikhail Voevoda, Sardana A. Fedorova, Ludmila P. Osipova, Marta Mirazón Lahr, Pascale Gerbault, Matthew Leavesley, Andrea Bamberg Migliano, Michael Petraglia, Oleg Balanovsky, Elza K. Khusnutdinova, Ene Metspalu, Mark G. Thomas, Andrea Manica, Rasmus Nielsen, Richard Villems, Eske Willerslev, Toomas Kivisild, Mait Metspalu

Research output: Contribution to journalArticlepeer-review

268 Scopus citations

Abstract

High-Coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long-and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago. © 2016 Macmillan Publishers Limited, part of Springer Nature.
Original languageEnglish (US)
Pages (from-to)238-242
Number of pages5
JournalNature
Volume538
Issue number7624
DOIs
StatePublished - Sep 21 2016

Bibliographical note

KAUST Repository Item: Exported on 2020-10-01
Acknowledgements: Support was provided by: Estonian Research Infrastructure Roadmap grant no 3.2.0304.11-0312; Australian Research Council Discovery grants (DP110102635 and DP140101405) (D.M.L., M.W. and E.W.); Danish National Research Foundation; the Lundbeck Foundation and KU2016 (E.W.); ERC Starting Investigator grant (FP7 - 261213) (T.K.); Estonian Research Council grant PUT766 (G.C. and M.K.); EU European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre (R.V.; M.Me. and A.Me.), and Centre of Excellence for Genomics and Translational Medicine Project No. 2014-2020.4.01.15-0012 to EGC of UT (A.Me.) and EBC (M.Me.); Estonian Institutional Research grant IUT24-1 (L.S., M.J., A.K., B.Y., K.T., C.B.M., Le.S., H.Sa., S.L., D.M.B., E.M., R.V., G.H., M.K., G.C., T.K. and M.Me.) and IUT20-60 (A.Me.); French Ministry of Foreign and European Affairs and French ANR grant number ANR-14-CE31-0013-01 (F.-X.R.); Gates Cambridge Trust Funding (E.J.); ICG SB RAS (No. VI.58.1.1) (D.V.L.); Leverhulme Programme grant no. RP2011-R-045 (A.B.M., P.G. and M.G.T.); Ministry of Education and Science of Russia; Project 6.656.2014/K (S.A.F.); NEFREX grant funded by the European Union (People Marie Curie Actions; International Research Staff Exchange Scheme; call FP7-PEOPLE-2012-IRSES-number 318979) (M.Me., G.H. and M.K.); NIH grants 5DP1ES022577 05, 1R01DK104339-01, and 1R01GM113657-01 (S.Tis.); Russian Foundation for Basic Research (grant N 14-06-00180a) (M.G.); Russian Foundation for Basic Research; grant 16-04-00890 (O.B. and E.B); Russian Science Foundation grant 14-14-00827 (O.B.); The Russian Foundation for Basic Research (14-04-00725-a), The Russian Humanitarian Scientific Foundation (13-11-02014) and the Program of the Basic Research of the RAS Presidium “Biological diversity” (E.K.K.); Wellcome Trust and Royal Society grant WT104125AIA & the Bristol Advanced Computing Research Centre (http://www.bris.ac.uk/acrc/) (D.J.L.); Wellcome Trust grant 098051 (Q.A.; C.T.-S. and Y.X.); Wellcome Trust Senior Research Fellowship grant 100719/Z/12/Z (M.G.T.); Young Explorers Grant from the National Geographic Society (8900-11) (C.A.E.); ERC Consolidator Grant 647787 ‘LocalAdaptatio’ (A.Ma.); Program of the RAS Presidium “Basic research for the development of the Russian Arctic” (B.M.); Russian Foundation for Basic Research grant 16-06-00303 (E.B.); a Rutherford Fellowship (RDF-10-MAU-001) from the Royal Society of New Zealand (M.P.C.).

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