Ancient human genome sequence of an extinct Palaeo-Eskimo

Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J.S., Albrechtsen, A., Moltke, I., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., Bertalan, M., Nielsen, K., Gilbert, M.T.P., Wang, Y., Raghavan, M., Campos, P.F., Kamp, H.M., Wilson, A.S., Gledhill, A., Tridico, S., Bunce, M., Lorenzen, E.D., Binladen, J., Guo, X., Zhao, J., Zhang, X., Zhang, H., Li, Z., Chen, M., Orlando, L., Kristiansen, K., Bak, M., Tommerup, N., Bendixen, C., Pierre, T.L., Grønnow, B., Meldgaard, M., Andreasen, C., Fedorova, S.A., Osipova, L.P., Higham, T.F.G., Ramsey, C.B., Hansen, T.O., Nielsen, F.C., Crawford, M.H., Brunak, S., Sicheritz-Pontén, T., Villems, R., Nielsen, R., Krogh, A., Wang, J. and Willerslev, E. (2010) Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature, 463 (7282). pp. 757-762.

Abstract

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 20Ã-, 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.

Item Type:	Journal Article
Murdoch Affiliation(s):	School of Biological Sciences and Biotechnology
Publisher:	Nature Publishing Group
Copyright:	© 2010 Macmillan Publishers Limited.
Notes:	This article is distributed under the terms of the Creative Commons Attribution-Non-Commercial-Share Alike licence (http://creativecommons.org/licenses/by-nc-sa/3.0/), which permits distribution, and reproduction in any medium, provided the original author and source are credited. This licence does not permit commercial exploitation, and derivative works must be licensed under the same or similar licence.
URI:	http://researchrepository.murdoch.edu.au/id/eprint/5001

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