The population history of Aboriginal Australians remains largely uncharacterized. Here we generate high-coverage genomes for 83 Aboriginal Australians (speakers of Pama–Nyungan languages) and 25 Papuans from the New Guinea Highlands. We find that Papuan and Aboriginal Australian ancestors diversified 25–40 thousand years ago (kya), suggesting pre-Holocene population structure in the ancient continent of Sahul (Australia, New Guinea and Tasmania). However, all of the studied Aboriginal Australians descend from a single founding population that differentiated ~10–32 kya. We infer a population expansion in northeast Australia during the Holocene epoch (past 10,000 years) associated with limited gene flow from this region to the rest of Australia, consistent with the spread of the Pama–Nyungan languages. We estimate that Aboriginal Australians and Papuans diverged from Eurasians 51–72 kya, following a single out-of-Africa dispersal, and subsequently admixed with archaic populations. Finally, we report evidence of selection in Aboriginal Australians potentially associated with living in the desert.
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The Aboriginal Australian and Papuan whole genome sequence data generated in this study have been deposited at the European Genome-phenome Archive (EGA, http://www.ebi.ac.uk/ega/), which is hosted by the EBI, under the accession numbers EGAS00001001766 and EGAS00001001247, respectively. The Papuan SNP array data generated in this study can be found under http://geogenetics.ku.dk/latest-news/alle_nyheder/2016/data.
We thank all sample donors for contributing to this study. We thank Macrogen (http://www.macrogen.com/) for sequencing of the Aboriginal Australian genomes, M. Rasmussen, C. Der Sarkissian, M. Allentoft, D. Cooper, R. Gray, S. Greenhill, A. Seguin-Orlando, T. Carstensen, M. Przeworski, J. D. Jensen and L. Orlando for helpful discussions. We thank E. Thorsby for sample collection and contributing the DNA extract for the P2077 genome, I. Lissimore for support with data storage and distribution. We thank T. Parks, K. Auckland, K. Robson, A. V. Hill, J. B. Clegg, D. Higgs, D. J. Weatherall and M. Alpers for assistance in sample collection and discussion. L.E., V.C.S., I.A., I.D. and S.P. are grateful to the High Performance Computation platform of the University of Bern for providing access to the UBELIX cluster. This work was supported by the Danish National Research Foundation, the Lundbeck Foundation, the KU2016 grant and the Australian Research Council. A.-S.M. was supported by an ambizione grant with reference PZ00P3_154717 from the Swiss National Science Foundation (SNSF). M.C.W. was supported by the Australian Research Council (ARC) Discovery grants DP110102635 and DP140101405 and by a Linkage grant LP140100387. V.C.S., I.D. and S.P. were supported by SNSF grants to L.E. with references 31003A-143393 and CRSII3_141940. O.L. was supported by a Ramón y Cajal grant from the Spanish Ministerio de Economia y Competitividad (MINECO) with reference RYC-2013-14797 and by a BFU2015-68759-P (MINECO/FEDER) grant. I.A. was supported by a grant with reference SFRH/BD/73150/2010 from the Portuguese Foundation for Science and Technology (FCT). A.B., S.Sc., Y.X., C.T.-S. and R.D. were supported by a Wellcome Trust grant with reference WT098051. E.M., C.Ba., I.P., S.N. and M.St. acknowledge the Max Planck Society. S.Su. was supported by an ARC Discovery grant with reference DP140101405. J.L.W. was supported by a PhD scholarship from Griffith University. A.A. acknowledges the Villum foundation. I.M. was supported by a grant from the Danish Council for Independent Research with reference DFF–4090-00244. J.V.M.-M. acknowledges the Consejo Nacional de Ciencia y Tecnología (Mexico) for funding. N.B. and F.-X.R. were supported by the French Ministry of Foreign and European Affairs and French ANR with the grant ANR14-CE31-0013-01. S.B. was supported by a Novo Nordisk Foundation grant with reference NNF14CC0001. P.G. and A.B.M. were supported by a Leverhulme Programme grant number RP2011-R-045 to A.B.M. at UCL Department of Anthropology and M.G.T. at UCL Department of Genetics, Evolution and Environment. A.J.M. was supported by a Wellcome Trust grant with reference 106289/Z/14/Z. M.M. acknowledges the EU European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre; Estonian Institutional Research grant IUT24-1. M.G.T. was supported by a Wellcome Trust Senior Investigator Award with grant number 100719/Z/12/Z. S.J.O. was supported by a Wellcome Trust Core Award Grant Number 090532/Z/09/Z. A.Man. was supported by an ERC Consolidator Grant 647787 ‘LocalAdaptation’. M.E.P. would like to acknowledge the cardio-metabolic research cluster at Jeffrey Cheah School of Medicine & Health Sciences, Monash University Malaysia and Ministry of Science, Technology & Innovation, Malaysia for research grant 100-RM1/BIOTEK 16/6/2B. M.H.S. was supported by a grant from the Danish Independence Research Council with reference FNU 12-125062. R.A.F. was supported by the Leverhulme Trust. M.M.L. is supported by an ERC Advanced Grant 295907 ‘In-Africa’. C.Bo. was supported by USA National Science Foundation (NSF) grants BCS-0844550 and BCS-1423711, awarded to C.Bo. and Yale University. T.M. was supported by a grant from the Danish Independence Research Council with reference FNU 1323-00749. M.S.S. was supported by a Wellcome Trust grant with reference WT098051. L.E. was supported by Swiss NSF grant number 31003A-143393, D.M.L. was supported by ARC Discovery Grants DP110102635 and DP140101405 and Linkage grants LP140100387, LP120200144 and LP150100583. E.W. is grateful to St John’s College in Cambridge for help and support.
Extended data figures
This file contains Supplementary Text and Data, Supplementary Figures, Supplementary Tables and additional references (see Contents for more details).