The complete genome sequence of a Neanderthal from the Altai Mountains

Kay Prüfer; Fernando Racimo; Nick Patterson; Flora Jay; Sriram Sankararaman; Susanna Sawyer; Anja Heinze; Gabriel Renaud; Peter H. Sudmant; Cesare De Filippo; Heng Li; Swapan Mallick; Michael Dannemann; Qiaomei Fu; Martin Kircher; Martin Kuhlwilm; Michael Lachmann; Matthias Meyer; Matthias Ongyerth; Michael Siebauer; Christoph Theunert; Arti Tandon; Priya Moorjani; Joseph Pickrell; James C. Mullikin; Samuel H. Vohr; Richard E. Green; Ines Hellmann; Philip L.F. Johnson; Hélène Blanche; Howard Cann; Jacob O. Kitzman; Jay Shendure; Evan E. Eichler; Ed S. Lein; Trygve E. Bakken; Liubov V. Golovanova; Vladimir B. Doronichev; Michael V. Shunkov; Anatoli P. Derevianko; Bence Viola; Montgomery Slatkin; David Reich; Janet Kelso; Svante Pääbo

doi:10.1038/nature12886

The complete genome sequence of a Neanderthal from the Altai Mountains

Kay Prüfer, Fernando Racimo, Nick Patterson, Flora Jay, Sriram Sankararaman, Susanna Sawyer, Anja Heinze, Gabriel Renaud, Peter H. Sudmant, Cesare De Filippo, Heng Li, Swapan Mallick, Michael Dannemann, Qiaomei Fu, Martin Kircher, Martin Kuhlwilm, Michael Lachmann, Matthias Meyer, Matthias Ongyerth, Michael SiebauerChristoph Theunert, Arti Tandon, Priya Moorjani, Joseph Pickrell, James C. Mullikin, Samuel H. Vohr, Richard E. Green, Ines Hellmann, Philip L.F. Johnson, Hélène Blanche, Howard Cann, Jacob O. Kitzman, Jay Shendure, Evan E. Eichler, Ed S. Lein, Trygve E. Bakken, Liubov V. Golovanova, Vladimir B. Doronichev, Michael V. Shunkov, Anatoli P. Derevianko, Bence Viola, Montgomery Slatkin^*, David Reich, Janet Kelso, Svante Pääbo

^*Corresponding author for this work

Institute of Human Genetics

Abstract

We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.

Original language	English
Journal	Nature
Volume	505
Issue number	7481
Pages (from-to)	43-49
Number of pages	7
ISSN	0028-0836
DOIs	https://doi.org/10.1038/nature12886
Publication status	Published - 2014

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Prüfer, K., Racimo, F., Patterson, N., Jay, F., Sankararaman, S., Sawyer, S., Heinze, A., Renaud, G., Sudmant, P. H., De Filippo, C., Li, H., Mallick, S., Dannemann, M., Fu, Q., Kircher, M., Kuhlwilm, M., Lachmann, M., Meyer, M., Ongyerth, M., ... Pääbo, S. (2014). The complete genome sequence of a Neanderthal from the Altai Mountains. Nature, 505(7481), 43-49. https://doi.org/10.1038/nature12886

@article{7e69497b059c4be6bb1644b2a7aebe0b,

title = "The complete genome sequence of a Neanderthal from the Altai Mountains",

abstract = "We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.",

author = "Kay Pr{\"u}fer and Fernando Racimo and Nick Patterson and Flora Jay and Sriram Sankararaman and Susanna Sawyer and Anja Heinze and Gabriel Renaud and Sudmant, {Peter H.} and {De Filippo}, Cesare and Heng Li and Swapan Mallick and Michael Dannemann and Qiaomei Fu and Martin Kircher and Martin Kuhlwilm and Michael Lachmann and Matthias Meyer and Matthias Ongyerth and Michael Siebauer and Christoph Theunert and Arti Tandon and Priya Moorjani and Joseph Pickrell and Mullikin, {James C.} and Vohr, {Samuel H.} and Green, {Richard E.} and Ines Hellmann and Johnson, {Philip L.F.} and H{\'e}l{\`e}ne Blanche and Howard Cann and Kitzman, {Jacob O.} and Jay Shendure and Eichler, {Evan E.} and Lein, {Ed S.} and Bakken, {Trygve E.} and Golovanova, {Liubov V.} and Doronichev, {Vladimir B.} and Shunkov, {Michael V.} and Derevianko, {Anatoli P.} and Bence Viola and Montgomery Slatkin and David Reich and Janet Kelso and Svante P{\"a}{\"a}bo",

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doi = "10.1038/nature12886",

language = "English",

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pages = "43--49",

journal = "Nature",

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Prüfer, K, Racimo, F, Patterson, N, Jay, F, Sankararaman, S, Sawyer, S, Heinze, A, Renaud, G, Sudmant, PH, De Filippo, C, Li, H, Mallick, S, Dannemann, M, Fu, Q, Kircher, M, Kuhlwilm, M, Lachmann, M, Meyer, M, Ongyerth, M, Siebauer, M, Theunert, C, Tandon, A, Moorjani, P, Pickrell, J, Mullikin, JC, Vohr, SH, Green, RE, Hellmann, I, Johnson, PLF, Blanche, H, Cann, H, Kitzman, JO, Shendure, J, Eichler, EE, Lein, ES, Bakken, TE, Golovanova, LV, Doronichev, VB, Shunkov, MV, Derevianko, AP, Viola, B, Slatkin, M, Reich, D, Kelso, J & Pääbo, S 2014, 'The complete genome sequence of a Neanderthal from the Altai Mountains', Nature, vol. 505, no. 7481, pp. 43-49. https://doi.org/10.1038/nature12886

TY - JOUR

T1 - The complete genome sequence of a Neanderthal from the Altai Mountains

AU - Prüfer, Kay

AU - Racimo, Fernando

AU - Patterson, Nick

AU - Jay, Flora

AU - Sankararaman, Sriram

AU - Sawyer, Susanna

AU - Heinze, Anja

AU - Renaud, Gabriel

AU - Sudmant, Peter H.

AU - De Filippo, Cesare

AU - Li, Heng

AU - Mallick, Swapan

AU - Dannemann, Michael

AU - Fu, Qiaomei

AU - Kircher, Martin

AU - Kuhlwilm, Martin

AU - Lachmann, Michael

AU - Meyer, Matthias

AU - Ongyerth, Matthias

AU - Siebauer, Michael

AU - Theunert, Christoph

AU - Tandon, Arti

AU - Moorjani, Priya

AU - Pickrell, Joseph

AU - Mullikin, James C.

AU - Vohr, Samuel H.

AU - Green, Richard E.

AU - Hellmann, Ines

AU - Johnson, Philip L.F.

AU - Blanche, Hélène

AU - Cann, Howard

AU - Kitzman, Jacob O.

AU - Shendure, Jay

AU - Eichler, Evan E.

AU - Lein, Ed S.

AU - Bakken, Trygve E.

AU - Golovanova, Liubov V.

AU - Doronichev, Vladimir B.

AU - Shunkov, Michael V.

AU - Derevianko, Anatoli P.

AU - Viola, Bence

AU - Slatkin, Montgomery

AU - Reich, David

AU - Kelso, Janet

AU - Pääbo, Svante

PY - 2014

Y1 - 2014

N2 - We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.

AB - We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.

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U2 - 10.1038/nature12886

DO - 10.1038/nature12886

M3 - Journal articles

C2 - 24352235

AN - SCOPUS:84892365780

SN - 0028-0836

VL - 505

SP - 43

EP - 49

JO - Nature

JF - Nature

IS - 7481

ER -

The complete genome sequence of a Neanderthal from the Altai Mountains

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