Stephan Schiffels

Population Genetics – Computational Methods - Human History

Malaspinas et al. 2016

Major A genomic history of Aboriginal Australia. Nature. Published September 21, 2016.

Authors: Anna-Sapfo Malaspinas, Michael C Westaway, Craig Muller, Vitor C Sousa, Oscar Lao, Isabel Alves, Anders Bergström, Georgios Athanasiadis, Jade Y 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 S Korneliussen, Ivan P Levkivskyi, J 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, François-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 Mirazon Lahr, Claire Bowern, Jeffrey D Wall, Thomas Mailund, Mark Stoneking, Rasmus Nielsen, Manjinder S Sandhu, Laurent Excoffier, David M Lambert and Eske Willerslev

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Abstract: 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.