Upper palaeolithic Siberian genome reveals dual ancestry of Native Americans

Maanasa Raghavan; Pontus Skoglund; Kelly E. Graf; Mait Metspalu; Anders Albrechtsen; Ida Moltke; Simon Rasmussen; Thomas Stafford jr.; Ludovic Antoine Alexandre Orlando; Ene Metspalu; Monika Karmin; Kristiina Tambets; Siiri Rootsi; Reedik Mägi; Paula Campos; Elena Balanovska; Oleg Balanovsky; Elza Khusnutdinova; Sergey Litvinov; Ludmila P Osipova; Sardana A Fedorova; Mikhail I. Voevoda; Michael Degiorgio; Thomas Sicheritz-Ponten; Søren Brunak; Svetlana Demeshchenko; Toomas Kivisild; Richard Villems; Rasmus Nielsen; Mattias Jakobsson; Eske Willerslev

doi:10.1038/nature12736

Upper palaeolithic Siberian genome reveals dual ancestry of Native Americans

Maanasa Raghavan, Pontus Skoglund, Kelly E. Graf, Mait Metspalu, Anders Albrechtsen, Ida Moltke, Simon Rasmussen, Thomas Stafford jr., Ludovic Antoine Alexandre Orlando, Ene Metspalu, Monika Karmin, Kristiina Tambets, Siiri Rootsi, Reedik Mägi, Paula Campos, Elena Balanovska, Oleg Balanovsky, Elza Khusnutdinova, Sergey Litvinov, Ludmila P OsipovaSardana A Fedorova, Mikhail I. Voevoda, Michael Degiorgio, Thomas Sicheritz-Ponten, Søren Brunak, Svetlana Demeshchenko, Toomas Kivisild, Richard Villems, Rasmus Nielsen, Mattias Jakobsson, Eske Willerslev

Bioinformatik og RNA Biologi

376 Citationer (Scopus)

Abstract

The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians, there is no consensus with regard to which specific Old World populations they are closest to. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-central Siberia, to an average depth of 1×. To our knowledge this is the oldest anatomically modern human genome reported to date. The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages. Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians. Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago, revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.

Originalsprog	Engelsk
Tidsskrift	Nature
Vol/bind	505
Udgave nummer	7481
Sider (fra-til)	87-91
Antal sider	4
ISSN	0028-0836
DOI	https://doi.org/10.1038/nature12736
Status	Udgivet - 2014

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10.1038/nature12736

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Raghavan, M., Skoglund, P., Graf, K. E., Metspalu, M., Albrechtsen, A., Moltke, I., Rasmussen, S., Stafford jr., T., Orlando, L. A. A., Metspalu, E., Karmin, M., Tambets, K., Rootsi, S., Mägi, R., Campos, P., Balanovska, E., Balanovsky, O., Khusnutdinova, E., Litvinov, S., ... Willerslev, E. (2014). Upper palaeolithic Siberian genome reveals dual ancestry of Native Americans. Nature, 505(7481), 87-91. https://doi.org/10.1038/nature12736

Raghavan, M, Skoglund, P, Graf, KE, Metspalu, M, Albrechtsen, A , Moltke, I , Rasmussen, S, Stafford jr., T, Orlando, LAA, Metspalu, E, Karmin, M, Tambets, K, Rootsi, S, Mägi, R, Campos, P, Balanovska, E, Balanovsky, O, Khusnutdinova, E, Litvinov, S, Osipova, LP, Fedorova, SA, Voevoda, MI, Degiorgio, M, Sicheritz-Ponten, T, Brunak, S, Demeshchenko, S, Kivisild, T, Villems, R, Nielsen, R, Jakobsson, M & Willerslev, E 2014, 'Upper palaeolithic Siberian genome reveals dual ancestry of Native Americans', Nature, bind 505, nr. 7481, s. 87-91. https://doi.org/10.1038/nature12736

@article{26239c6897d541818e8bcea7143e2242,

title = "Upper palaeolithic Siberian genome reveals dual ancestry of Native Americans",

abstract = "The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians, there is no consensus with regard to which specific Old World populations they are closest to. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-central Siberia, to an average depth of 1×. To our knowledge this is the oldest anatomically modern human genome reported to date. The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages. Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians. Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago, revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.",

author = "Maanasa Raghavan and Pontus Skoglund and Graf, {Kelly E.} and Mait Metspalu and Anders Albrechtsen and Ida Moltke and Simon Rasmussen and {Stafford jr.}, Thomas and Orlando, {Ludovic Antoine Alexandre} and Ene Metspalu and Monika Karmin and Kristiina Tambets and Siiri Rootsi and Reedik M{\"a}gi and Paula Campos and Elena Balanovska and Oleg Balanovsky and Elza Khusnutdinova and Sergey Litvinov and Osipova, {Ludmila P} and Fedorova, {Sardana A} and Voevoda, {Mikhail I.} and Michael Degiorgio and Thomas Sicheritz-Ponten and S{\o}ren Brunak and Svetlana Demeshchenko and Toomas Kivisild and Richard Villems and Rasmus Nielsen and Mattias Jakobsson and Eske Willerslev",

year = "2014",

doi = "10.1038/nature12736",

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pages = "87--91",

journal = "Nature",

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number = "7481",

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T1 - Upper palaeolithic Siberian genome reveals dual ancestry of Native Americans

AU - Raghavan, Maanasa

AU - Skoglund, Pontus

AU - Graf, Kelly E.

AU - Metspalu, Mait

AU - Albrechtsen, Anders

AU - Moltke, Ida

AU - Rasmussen, Simon

AU - Stafford jr., Thomas

AU - Orlando, Ludovic Antoine Alexandre

AU - Metspalu, Ene

AU - Karmin, Monika

AU - Tambets, Kristiina

AU - Rootsi, Siiri

AU - Mägi, Reedik

AU - Campos, Paula

AU - Balanovska, Elena

AU - Balanovsky, Oleg

AU - Khusnutdinova, Elza

AU - Litvinov, Sergey

AU - Osipova, Ludmila P

AU - Fedorova, Sardana A

AU - Voevoda, Mikhail I.

AU - Degiorgio, Michael

AU - Sicheritz-Ponten, Thomas

AU - Brunak, Søren

AU - Demeshchenko, Svetlana

AU - Kivisild, Toomas

AU - Villems, Richard

AU - Nielsen, Rasmus

AU - Jakobsson, Mattias

AU - Willerslev, Eske

PY - 2014

Y1 - 2014

N2 - The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians, there is no consensus with regard to which specific Old World populations they are closest to. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-central Siberia, to an average depth of 1×. To our knowledge this is the oldest anatomically modern human genome reported to date. The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages. Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians. Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago, revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.

AB - The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians, there is no consensus with regard to which specific Old World populations they are closest to. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-central Siberia, to an average depth of 1×. To our knowledge this is the oldest anatomically modern human genome reported to date. The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages. Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians. Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago, revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.

U2 - 10.1038/nature12736

DO - 10.1038/nature12736

M3 - Letter

C2 - 24256729

SN - 0028-0836

VL - 505

SP - 87

EP - 91

JO - Nature

JF - Nature

IS - 7481

ER -

Upper palaeolithic Siberian genome reveals dual ancestry of Native Americans

Abstract

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