Genomic evidence for the Pleistocene and recent population history of Native Americans

M. Raghavan, M. Steinrucken, K. Harris, S. Schiffels, S. Rasmussen, M. DeGiorgio, A. Albrechtsen, C. Valdiosera, M. C. Avila-Arcos, A.-S. Malaspinas, A. Eriksson, I. Moltke, M. Metspalu, J. R. Homburger, J. Wall, O. E. Cornejo, J. V. Moreno-Mayar, T. S. Korneliussen, T. Pierre, M. RasmussenP. F. Campos, P. d. B. Damgaard, M. E. Allentoft, J. Lindo, E. Metspalu, R. Rodriguez-Varela, J. Mansilla, C. Henrickson, A. Seguin-Orlando, H. Malmstrom, T. Stafford, S. S. Shringarpure, A. Moreno-Estrada, M. Karmin, K. Tambets, A. Bergstrom, Y. Xue, V. Warmuth, A. D. Friend, J. Singarayer, P. Valdes, F. Balloux, I. Leboreiro, J. L. Vera, H. Rangel-Villalobos, D. Pettener, D. Luiselli, L. G. Davis, E. Heyer, C. P. E. Zollikofer, M. S. Ponce de Leon, C. I. Smith, V. Grimes, K.-A. Pike, M. Deal, B. T. Fuller, B. Arriaza, V. Standen, M. F. Luz, F. Ricaut, N. Guidon, L. Osipova, M. I. Voevoda, O. L. Posukh, O. Balanovsky, M. Lavryashina, Y. Bogunov, E. Khusnutdinova, M. Gubina, E. Balanovska, S. Fedorova, S. Litvinov, B. Malyarchuk, M. Derenko, M. J. Mosher, D. Archer, J. Cybulski, B. Petzelt, J. Mitchell, R. Worl, P. J. Norman, P. Parham, B. M. Kemp, T. Kivisild, C. Tyler-Smith, M. S. Sandhu, M. Crawford, R. Villems, D. G. Smith, M. R. Waters, T. Goebel, J. R. Johnson, R. S. Malhi, M. Jakobsson, D. J. Meltzer, A. Manica, R. Durbin, C. D. Bustamante, Y. S. Song, R. Nielsen, E. Willerslev

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368 Citations (Scopus)


INTRODUCTION: The consensus view on the peopling of the Americas is that ancestors of modern Native Americans entered the Americas from Siberia via the Bering Land Bridge and that this occurred at least ~14.6 thousand years ago (ka). However, the number and timing of migrations into the Americas remain controversial, with conflicting interpretations based on anatomical and genetic evidence.

RATIONALE: In this study, we address four major unresolved issues regarding the Pleistocene and recent population history of Native Americans: (i) the timing of their divergence from their ancestral group, (ii) the number of migrations into the Americas, (iii) whether there was ~15,000 years of isolation of ancestral Native Americans in Beringia (Beringian Incubation Model), and (iv) whether there was post-Pleistocene survival of relict populations in the Americas related to Australo-Melanesians, as suggested by apparent differences in cranial morphologies between some early (“Paleoamerican”) remains and those of more recent Native Americans. We generated 31 high-coverage modern genomes from the Americas, Siberia, and Oceania; 23 ancient genomic sequences from the Americas dating between ~0.2 and 6 ka; and SNP chip genotype data from 79 present-day individuals belonging to 28 populations from the Americas and Siberia. The above data sets were analyzed together with published modern and ancient genomic data from worldwide populations, after masking some present-day Native Americans for recent European admixture.

RESULTS: Using three different methods, we determined the divergence time for all Native Americans (Athabascans and Amerindians) from their Siberian ancestors to be ~20 ka, and no earlier than ~23 ka. Furthermore, we dated the divergence between Athabascans (northern Native American branch, together with northern North American Amerindians) and southern North Americans and South and Central Americans (southern Native American branch) to be ~13 ka. Similar divergence times from East Asian populations and a divergence time between the two branches that is close in age to the earliest well-established archaeological sites in the Americas suggest that the split between the branches occurred within the Americas. We additionally found that several sequenced Holocene individuals from the Americas are related to present-day populations from the same geographical regions, implying genetic continuity of ancient and modern populations in some parts of the Americas over at least the past 8500 years. Moreover, our results suggest that there has been gene flow between some Native Americans from both North and South America and groups related to East Asians and Australo-Melanesians, the latter possibly through an East Asian route that might have included ancestors of modern Aleutian Islanders. Last, using both genomic and morphometric analyses, we found that historical Native American groups such as the Pericúes and Fuego-Patagonians were not “relicts” of Paleoamericans, and hence, our results do not support an early migration of populations directly related to Australo-Melanesians into the Americas.

CONCLUSION: Our results provide an upper bound of ~23 ka on the initial divergence of ancestral Native Americans from their East Asian ancestors, followed by a short isolation period of no more than ~8000 years, and subsequent entrance and spread across the Americas. The data presented are consistent with a single-migration model for all Native Americans, with later gene flow from sources related to East Asians and, indirectly, Australo-Melanesians. The single wave diversified ~13 ka, likely within the Americas, giving rise to the northern and southern branches of present-day Native Americans.
Original languageEnglish
Issue number6250
Publication statusPublished - 23 Jul 2015

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