A genomic history of Aboriginal Australia
Open accessAbstract
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 Ancient Rapanui ROH distribution is similar to that of a present-day Rapanui genome (P2077).
“We observed that the Ancient Rapanui ROH distribution is similar to that of a present-day Rapanui genome (P2077)45.”
From Ancient Rapanui genomes reveal resilience and pre-European contact with the Americas (2024) · cites this paper as [45]
The Dataset section describes Aboriginal Australian and Papuan genomes, while Extended Data discusses other genomic distributions; neither reports a comparison of ancient and present-day Rapanui runs of homozygosity. Searches for P2077, Rapanui, and ROH found no passage addressing the claimed similarity. (LLM, conf=0.76)
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References 57 · Cited by 650
Research works printed but not linked: 1
- [6]Cavalli-Sforza LL Menozzi P Piazza A The History and Geography of Human Genes Princeton University Press 1996
- Authors
- Malaspinas, A.-S., Westaway, M. C., Muller, C., Sousa, V. C., Lao, O., Alves, I., Bergström, A., Athanasiadis, G., Cheng, J. Y., Crawford, J. E., Heupink, T. H., Macholdt, E., Peischl, S., Rasmussen, S., Schiffels, S., Subramanian, S., Wright, J. L., Albrechtsen, A., Barbieri, C., Dupanloup, I., Eriksson, A., Margaryan, A., Moltke, I., Pugach, I., Korneliussen, T. S., Levkivskyi, I. P., Moreno-Mayar, J. V., Ni, S., Racimo, F., Sikora, M., Xue, Y., Aghakhanian, F. A., Brucato, N., Brunak, S., Campos, P. F., Clark, W., Ellingvåg, S., Fourmile, G., Gerbault, P., Injie, D., Koki, G., Leavesley, M., Logan, B., Lynch, A., Matisoo-Smith, E. A., McAllister, P. J., Mentzer, A. J., Metspalu, M., Migliano, A. B., Murgha, L., Phipps, M. E., Pomat, W., Reynolds, D., Ricaut, F.-X., Siba, P., Thomas, M. G., Wales, T., Wall, C. M., Oppenheimer, S. J., Tyler-Smith, C., Durbin, R., Dortch, J., Manica, A., Schierup, M. H., Foley, R. A., Lahr, M. M., Bowern, C., Wall, J. D., Mailund, T., Stoneking, M., Nielsen, R., Sandhu, M. S., Excoffier, L., Lambert, D. M., & Willerslev, E.
- Affiliations
- University of Bern (CH)
- Griffith University (AU)
- University of Copenhagen (DK)
- Wellcome Sanger Institute (GB)
- Aarhus University (DK)
- Verily Life Sciences LLC (United States) (US)
- Max Planck Institute for Evolutionary Anthropology (DE)
- Technical University of Denmark (DK)
- Max Planck Institute of Geoanthropology (DE)
- University of Cambridge (GB)
- ETH Zurich (CH)
- University of California, Berkeley (US)
- Centre National de la Recherche Scientifique (FR)
- National Parks and Wildlife Service (AU)
- University College London (GB)
- Papua New Guinea Institute of Medical Research (PG)
- University of Papua New Guinea (PG)
- University of Otago (NZ)
- Centre for Human Genetics (GB)
- Estonian Biocentre (EE)
- Monash University Malaysia (MY)
- University of Oxford (GB)
- The University of Western Australia (AU)
- Yale University (US)
- University of California, San Francisco (US)
- Corresponding author
- Sandhu, Manjinder S.
- Excoffier, Laurent
- Lambert, David M.
- Willerslev, Eske
- ORCID
- Malaspinas, Anna-Sapfo
- Westaway, Michael C.
- Alves, Isabel
- Bergström, Anders
- Athanasiadis, Georgios
- Cheng, Jade Y.
- Crawford, Jacob E.
- Heupink, Tim H.
- Macholdt, Enrico
- Peischl, Stephan
- Rasmussen, Simon
- Schiffels, Stephan
- Subramanian, Sankar
- Albrechtsen, Anders
- Barbieri, Chiara
- Dupanloup, Isabelle
- Eriksson, Anders
- Margaryan, Ashot
- Moltke, Ida
- Korneliussen, Thorfinn S.
- Moreno-Mayar, J. Víctor
- Ni, Shengyu
- Racimo, Fernando
- Sikora, Martin
- Brucato, Nicolas
- Brunak, Søren
- Campos, Paula F.
- Ellingvåg, Sturla
- Gerbault, Pascale
- Leavesley, Matthew
- Matisoo-Smith, Elizabeth A.
- Mentzer, Alexander J.
- Metspalu, Mait
- Migliano, Andrea B.
- Phipps, Maude E.
- Pomat, William
- Thomas, Mark G.
- Wales, Thomas
- Oppenheimer, Stephen J.
- Durbin, Richard
- Dortch, Joe
- Manica, Andrea
- Schierup, Mikkel H.
- Bowern, Claire
- Wall, Jeffrey D.
- Mailund, Thomas
- Stoneking, Mark
- Nielsen, Rasmus
- Excoffier, Laurent
- Lambert, David M.
- Willerslev, Eske
- Venue
- Nature
- Published
- 2016-09-21
- Volume
- 538
- Issue
- 7624
- Pages
- 207-214
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC7617037
- OpenAlex
- W2521412361
- Cited by
- 650
- References
- 57
- Citations by year
- 2026: 26 · 2025: 74 · 2024: 48 · 2023: 157 · 2022: 60 · 2021: 76 · 2020: 48 · 2019: 42 · 2018: 60 · 2017: 50 · 2016: 9
- FWCI
- 43.35
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- ResearchOnline at James Cook University (James Cook University) (submittedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- HAL (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Bern Open Repository and Information System (University of Bern) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
- Max Planck Digital Library (submittedVersion)
- UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion)
- IRIS (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Scopus (Elsevier) (submittedVersion)
- Technical University of Denmark, DTU Orbit (Technical University of Denmark, DTU) (submittedVersion, other-oa)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology) (submittedVersion)
- Griffith Research Online (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- UEA Digital Repository (University of East Anglia) (submittedVersion)
- Funders
- Wellcome Trust (100719, 106289, 100719/Z/12/Z, 090532, 098051)
- Agence Nationale de la Recherche (ANR-14-CE31-0013)
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (143393, 154717)
- Lundbeckfonden (R215‐2015‐4174, R109-2012-9995, R70-2010-6286, R155-2013-16338, R38-2008-3048, R24-2008-2527)
- Biotechnology and Biological Sciences Research Council (BB/H005854/1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Social Sciences › Anthropology › Australian Indigenous Culture and History
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- Aboriginal Australians, Papuans, Pama-Nyungan languages, demographic history, Sahul, dispersal out of Africa, archaic admixture, population divergence, gene flow, selection signatures, desert adaptation, population structure, New Guinea Highlands, Tasmanian Aboriginal people
- MeSH terms
- Africa, Australia, Desert Climate, Genetics, Population, Humans, Language, New Guinea, Phylogeny, Population Dynamics, Tasmania, Genome, Human, Genomics, Native Hawaiian or Other Pacific Islander, Racial Groups, History, Ancient, Gene Flow, Human Migration, Datasets as Topic
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