Ancient human genome sequence of an extinct Palaeo-Eskimo

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Issue Date
2010-02-11Author
Rasmussen, Morten
Li, Yingrui
Lindgreen, Stinus
Pedersen, Jakob Skou
Albrechtsen, Anders
Moltke, Ida
Metspalu, Mait
Metspalu, Ene
Kivisild, Toomas
Gupta, Ramneek
Bertalan, Marcelo
Nielsen, Kasper
Gilbert, M. Thomas P.
Wang, Yong
Raghavan, Maanasa
Campos, Paula F.
Kamp, Hanne Munkholm
Wilson, Andrew S.
Gledhill, Andrew
Tridico, Silvana
Bunce, Michael
Lorenzen, Eline D.
Binladen, Jonas
Guo, Xiaosen
Zhao, Jing
Zhang, Xiuqing
Zhang, Hao
Li, Zhuo
Chen, Minfeng
Orlando, Ludovic
Kristiansen, Karsten
Bak, Mads
Tommerup, Niels
Bendixen, Christian
Pierre, Tracey L.
Gronnow, Bjarne
Meldgaard, Morten
Andreasen, Claus
Fedorova, Sardana A.
Osipova, Ludmila P.
Higham, Thomas F G.
Ramsey, Christopher Bronk
Hansen, Thomas v. O.
Nielsen, Finn C.
Crawford, Michael H.
Brunak, Soren
Sicheritz-Ponten, Thomas
Villems, Richard
Nielsen, Rasmus
Krogh, Anders
Wang, Jun
Willerslev, Eske
Publisher
Macmilan Publishers
Type
Article
Article Version
Scholarly/refereed, publisher version
Rights
This paper is distributed under the terms of the Creative Commons Attribution-Non-Commercial-Share-Alike license, and is freely available to all readers at www.nature.com/nature.
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Show full item recordAbstract
We report here the genome sequence of an ancient human. Obtained from ∼4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20×, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. We identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reported previously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assign possible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace human remains. We compare the high-confidence SNPs to those of contemporary populations to find the populations most closely related to the individual. This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.
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Citation
Rasmussen, Morten, Yingrui Li, Stinus Lindgreen, Jakob Skou Pedersen, Anders Albrechtsen, Ida Moltke, Mait Metspalu, Ene Metspalu, Toomas Kivisild, Ramneek Gupta, Marcelo Bertalan, Kasper Nielsen, M. Thomas P. Gilbert, Yong Wang, Maanasa Raghavan, Paula F. Campos, Hanne Munkholm Kamp, Andrew S. Wilson, Andrew Gledhill, Silvana Tridico, Michael Bunce, Eline D. Lorenzen, Jonas Binladen, Xiaosen Guo, Jing Zhao, Xiuqing Zhang, Hao Zhang, Zhuo Li, Minfeng Chen, Ludovic Orlando, Karsten Kristiansen, Mads Bak, Niels Tommerup, Christian Bendixen, Tracey L. Pierre, Bjarne Grønnow, Morten Meldgaard, Claus Andreasen, Sardana A. Fedorova, Ludmila P. Osipova, Thomas F. G. Higham, Christopher Bronk Ramsey, Thomas v. O. Hansen, Finn C. Nielsen, Michael H. Crawford, Søren Brunak, Thomas Sicheritz-Pontén, Richard Villems, Rasmus Nielsen, Anders Krogh, Jun Wang, and Eske Willerslev (2010) "Ancient human genome sequence of an extinct Palaeop-Eskimo." Nature. Feb 11, 2010; 463(7282): 757–762. http://dx.doi.org/10.1038/nature08835
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