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Terminal Pleistocene Alaskan genome reveals first founding population of Native Americans

Naturevolume 553pages203–207 (2018)Cite this article

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Abstract

Despite broad agreement that the Americas were initially populated via Beringia, the land bridge that connected far northeast Asia with northwestern North America during the Pleistocene epoch, when and how the peopling of the Americas occurred remains unresolved1,2,3,4,5. Analyses of human remains from Late Pleistocene Alaska are important to resolving the timing and dispersal of these populations. The remains of two infants were recovered at Upward Sun River (USR), and have been dated to around 11.5 thousand years ago (ka)6. Here, by sequencing the USR1 genome to an average coverage of approximately 17 times, we show that USR1 is most closely related to Native Americans, but falls basal to all previously sequenced contemporary and ancient Native Americans1,7,8. As such, USR1 represents a distinct Ancient Beringian population. Using demographic modelling, we infer that the Ancient Beringian population and ancestors of other Native Americans descended from a single founding population that initially split from East Asians around 36 ± 1.5 ka, with gene flow persisting until around 25 ± 1.1 ka. Gene flow from ancient north Eurasians into all Native Americans took place 25–20 ka, with Ancient Beringians branching off around 22–18.1 ka. Our findings support a long-term genetic structure in ancestral Native Americans, consistent with the Beringian ‘standstill model’9. We show that the basal northern and southern Native American branches, to which all other Native Americans belong, diverged around 17.5–14.6 ka, and that this probably occurred south of the North American ice sheets. We also show that after 11.5 ka, some of the northern Native American populations received gene flow from a Siberian population most closely related to Koryaks, but not Palaeo-Eskimos1, Inuits or Kets10, and that Native American gene flow into Inuits was through northern and not southern Native American groups1. Our findings further suggest that the far-northern North American presence of northern Native Americans is from a back migration that replaced or absorbed the initial founding population of Ancient Beringians.

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Figure 1: Genetic affinities between USR1, present-day Native Americans and world-wide populations.
Figure 2: Possible geographic locations for the USR1 and NNA–SNA splits.
Figure 3: A model for the formation of the different Native American populations.
Figure 4: USR1 demographic history in the context of East Asians, Siberians and other Native Americans.

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Acknowledgements

The Upward Sun River excavations and analysis were conducted under a Memorandum of Agreement (MOA) signed by the State of Alaska, the National Science Foundation, the Healy Lake Tribal Council and the Tanana Chiefs Conference. We appreciate the cooperation of all parties. We thank M. Allentoft, S. Gopalakrishnan, T. Korneliussen, P. Librado, J. Ramos-Madrigal, G. Renaud and F. Vieira for discussions, and the Danish National High-throughput Sequencing Centre for assistance with data generation. GeoGenetics members were supported by the Lundbeck Foundation and the Danish National Research Foundation (DNRF94) and KU2016. J.V.M.-M. was supported by Conacyt (Mexico). Samples were recovered during excavations by B.A.P. supported by NSF Grants 1138811 and 1223119. Research was supported in part by NIH grant R01-GM094402 (M.St., J.T., J.A.K. and Y.S.S.) and a Packard Fellowship for Science and Engineering (Y.S.S.). Y.S.S. is a Chan Zuckerberg Biohub investigator. D.J.M. is supported by the Quest Archaeological Research Fund. A.-S.M. is supported by the Swiss National Science Foundation and the ERC.

Author information

Author notes
  1. J. Víctor Moreno-Mayar, Ben A. Potter and Lasse Vinner: These authors contributed equally to this work.

Authors and Affiliations

  1. Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, 1350, Denmark

    J. Víctor Moreno-Mayar, Lasse Vinner, Anna-Sapfo Malaspinas, Martin Sikora, Ludovic Orlando, Rasmus Nielsen, David J. Meltzer & Eske Willerslev

  2. Department of Anthropology, University of Alaska, Fairbanks, 99775, Alaska, USA

    Ben A. Potter & Joshua D. Reuther

  3. Department of Biostatistics and Epidemiology, University of Massachusetts, Amherst, Massachusetts, 01003, USA

    Matthias Steinrücken

  4. Department of Ecology and Evolution, University of Chicago, Chicago, 60637, Illinois, USA

    Matthias Steinrücken

  5. Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, Kongens Lyngby, 2800, Denmark

    Simon Rasmussen

  6. Department of Statistics, University of California, Berkeley, 94720, California, USA

    Jonathan Terhorst, John A. Kamm, Yun S. Song & Rasmus Nielsen

  7. Department of Statistics, University of Michigan, Ann Arbor, 48109, Michigan, USA

    Jonathan Terhorst

  8. Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK

    John A. Kamm & Eske Willerslev

  9. Department of Biology, The Bioinformatics Centre, University of Copenhagen, Copenhagen, 2200, Denmark

    Anders Albrechtsen

  10. Department of Computational Biology, University of Lausanne, Lausanne, Switzerland

    Anna-Sapfo Malaspinas

  11. Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland

    Anna-Sapfo Malaspinas

  12. Research Centre in Evolutionary Anthropology and Palaeoecology, Liverpool John Moores University, Liverpool, L3 3AF, UK

    Joel D. Irish

  13. Department of Anthropology, University of Illinois at Urbana-Champaign, Urbana, 61801, Illinois, USA

    Ripan S. Malhi

  14. Carle R. Woese Institute for Genomic Biology, University of Illinois at Urbana-Champaign, Urbana, 61801, Illinois, USA

    Ripan S. Malhi

  15. Computer Science Division, University of California, Berkeley, California, 94720, USA

    Yun S. Song

  16. Chan Zuckerberg Biohub, San Francisco, California, 94158, USA

    Yun S. Song

  17. Department of Integrative Biology, University of California, Berkeley, 94720, California, USA

    Rasmus Nielsen

  18. Department of Anthropology, Southern Methodist University, Dallas, 75275, Texas, USA

    David J. Meltzer

  19. Department of Zoology, University of Cambridge, Downing Street, Cambridge, CB2 3EJ, UK

    Eske Willerslev

Authors
  1. J. Víctor Moreno-Mayar
  2. Ben A. Potter
  3. Lasse Vinner
  4. Matthias Steinrücken
  5. Simon Rasmussen
  6. Jonathan Terhorst
  7. John A. Kamm
  8. Anders Albrechtsen
  9. Anna-Sapfo Malaspinas
  10. Martin Sikora
  11. Joshua D. Reuther
  12. Joel D. Irish
  13. Ripan S. Malhi
  14. Ludovic Orlando
  15. Yun S. Song
  16. Rasmus Nielsen
  17. David J. Meltzer
  18. Eske Willerslev

Contributions

The project was conceived by E.W. and B.A.P. and headed by E.W. L.V. processed ancient DNA. J.V.M.-M. and S.R. assembled datasets. J.V.M.-M., M.St., J.T., J.A.K. and A.A. analysed genetic data. B.A.P. led the USR field investigation and B.A.P. and D.J.M. provided anthropological contextualization. B.A.P., J.D.R. and J.D.I. conducted archaeological and bioanthropological work. R.N., Y.S.S., M.Si., A.-S.M., and L.O. supervised bioinformatic and statistical analyses. B.A.P. engaged with indigenous communities. J.V.M.-M., B.A.P., D.J.M. and E.W. wrote the manuscript with input from L.V., A.-S.M., M.Si., R.S.M., L.O., Y.S.S, R.N. and the other authors.

Corresponding author

Correspondence toEske Willerslev.

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Competing interests

The authors declare no competing financial interests.

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Supplementary information

Supplementary Information

This file contains supplementary text 1 – 21, tables S1-S25 and figures S1-S30. (PDF 23149 kb)

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Moreno-Mayar, J., Potter, B., Vinner, L.et al. Terminal Pleistocene Alaskan genome reveals first founding population of Native Americans.Nature553, 203–207 (2018). https://doi.org/10.1038/nature25173

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Comments

Commenting on this article is now closed.

  1. Don Wilson

    I read your abstract with interest and wonder if DNA or other testing has ruled out the possibility of a progenitor peoples migration from/through South and Central America to the north and interbreeding with those peoples migrating across the Bering bridge and moving south? I ask because a working archeologist from Cusco University, guiding us through Machu Pichu 3 yrs. ago seemed adamant that the "Peruvian" progenitors did not migrate from No. America, through the Bering land bridge as taught in U.S. schools, but, most likely either migrated to or from Asia and what is now Peru. He indicated that there are ongoing DNA and other studies underway attempting to resolve the migration direction question. He was clear that there is an Asian connection but speculated that it possibly was accomplished by boat or raft. If that remains a possibility, could that also be an explanation for the genetic differences observed? Thank you.

  2. Wim BorsboomReplied toDon Wilson

    Hi Don,
    Excellent question, if you get any reasonable answer, please send me an email
    wimjborsboom@gmail.com
    I would very much appreciate that.
    Wim Borsboom

  3. NeaAnderthal

    It would be interesting to determine the genetic similarities with differing native Siberian populations such as the Kumandinians of the Altay region.

  4. John Ensminger

    This comment may only be appropriate for certain of the authors of this paper who are associated with the excavations at Sun River. I would appreciate any information as to whether there is any evidence that there may have been dogs at the Sun River site. I do not see any mention in this paper, the Supplementary Info, or the papers by Potter et al. in 2008 and 2014 (nor is Canis listed among the fauna in the Supp Info to the latter), but there may be other sources I haven’t encountered. A number of papers on the genetics of aboriginal American dogs generally refer to dogs coming over the land bridge from Siberia to the Americas with humans but I have not seen consideration being given to the difficulties such generalizations encounter if the evidence regarding a Beringian Standstill has to be taken into account. If human gene flow from Siberia ceased between 25,000 and 18,000 years ago (or even later, depending on the research group), then dogs would presumably not have accompanied humans into Beringia after that. One could postulate some feral dog population moving into the area and becoming associated with a group that previously did not have dogs, or some group of humans moving in and then disappearing without a genetic trace but leaving their dogs, but these seem almost Rube Goldberg constructs. I believe an argument can be made that the first wave of humans into America may not have had dogs (correlating several lines of research) but presumably there had to be dogs in Alaska by the time the land bridge closed, say 12,500 years ago, to explain the archeological record (Paleo-Eskimo and Thule migrations coming too late). If a kind of proto-domestication (Germonpre) is presumed, the flaw here is that this is generally seen as not leading to modern dogs. That leaves the possibility of an earlier domestication leading to modern dogs (Wang et al. 2015), and makes a conservative timeline (Morey, etc.) more difficult to support if there was, in fact, a Standstill. Beringia was a large area during the Last Glacial Maximum and a structured cultural environment has been suggested (Reich and Skoglund), making it possible that some groups within it had dogs while others did not (true, for instance, of some neighboring tribes in California despite similar subsistence patterns). Hence my question as to whether the Sun River site holds any evidence of dogs.

  5. Lee Albee

    I am a bit concerned by the continued use of the masking methodology. This methodology has a significant bias against the North American populations as they seemingly have a higher level of "western eurasian" genetics. By aggressively stripping away "other" ancestry, the relationship to the native american alleles should be expected to be similar or the same to both north and south america. I am worried this analysis method is baking in a bias

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Editorial Summary

Alaskan genome reveals Native American origins

Studies of human remains from Late Pleistocene Alaska are important for resolving theories on the early population of the Americas. Eske Willerslev and colleagues report the sequencing of the genome of an individual (USR1, from Upward Sun River) who lived in Alaska around 11,500 years ago. Their demographic modelling suggests that USR1 represents a distinct Ancient Beringian population, which together with ancestors of other Native Americans descended from a single founding population that initially split from East Asians around 36,000 years ago, but with gene flow persisting until around 25,000 years ago. Their findings agree with the Beringian standstill model, and provide genomic evidence that Native American ancestry can be traced back to the same source population from a single Late Pleistocene founding event.

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