Ancient human genome sequence of an extinct Palaeo-Eskimo

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Morten Rasmussen, Yingrui Li, Stinus Lindgreen, Jakob Skou Pedersen, Anders Albrechtsen, Ida Moltke, Mait Metspalu, Ene Metspalu, Toomas Kivisild, Ramneek Gupta, Marcelo Bertalan, Kasper Nielsen, Tom Gilbert, Yong Wang, Maanasa Raghavan, Paula Campos, Hanne Louise Munkholm Kamp, Andrew S. Wilson, Andrew Gledhill, Silvana Tridico & 32 andre Michael Bunce, Eline Lorenzen, Jonas Khalid Mohamed Awad Binladen, Xiaosen Guo, Jing Zhao, Xiuqing Zhang, Hao Zhang, Zhuo Li, Minfeng Chen, Ludovic Antoine Alexandre 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 van Overeem Hansen, Finn Cilius Nielsen, Michael H. Crawford, Søren Brunak, Thomas Sicheritz-Pontén, Richard Villems, Rasmus Nielsen, Anders Krogh, Jun Wang, Eske Willerslev

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.
OriginalsprogEngelsk
TidsskriftNature
Vol/bind463
Udgave nummer7282
Sider (fra-til)757-762
Antal sider6
ISSN0028-0836
DOI
StatusUdgivet - 11 feb. 2010

ID: 33912089