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Ancient human genome sequence of an extinct Palaeo-Eskimo.


ABSTRACT: We report here the genome sequence of an ancient human. Obtained from approximately 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 20x, 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.

SUBMITTER: Rasmussen M 

PROVIDER: S-EPMC3951495 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature

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Ancient human genome sequence of an extinct Palaeo-Eskimo.

Rasmussen Morten M   Li Yingrui Y   Lindgreen Stinus S   Pedersen Jakob Skou JS   Albrechtsen Anders A   Moltke Ida I   Metspalu Mait M   Metspalu Ene E   Kivisild Toomas T   Gupta Ramneek R   Bertalan Marcelo M   Nielsen Kasper K   Gilbert M Thomas P MT   Wang Yong Y   Raghavan Maanasa M   Campos Paula F PF   Kamp Hanne Munkholm HM   Wilson Andrew S AS   Gledhill Andrew A   Tridico Silvana S   Bunce Michael M   Lorenzen Eline D ED   Binladen Jonas J   Guo Xiaosen X   Zhao Jing J   Zhang Xiuqing X   Zhang Hao H   Li Zhuo Z   Chen Minfeng M   Orlando Ludovic L   Kristiansen Karsten K   Bak Mads M   Tommerup Niels N   Bendixen Christian C   Pierre Tracey L TL   Grønnow Bjarne B   Meldgaard Morten M   Andreasen Claus C   Fedorova Sardana A SA   Osipova Ludmila P LP   Higham Thomas F G TF   Ramsey Christopher Bronk CB   Hansen Thomas V O TV   Nielsen Finn C FC   Crawford Michael H MH   Brunak Søren S   Sicheritz-Pontén Thomas T   Villems Richard R   Nielsen Rasmus R   Krogh Anders A   Wang Jun J   Willerslev Eske E  

Nature 20100201 7282


We report here the genome sequence of an ancient human. Obtained from approximately 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 20x, 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 es  ...[more]

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