Ancient human genome sequence of an extinct Palaeo-Eskimo

• Published in: Nature
• Main Authors: 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., Grønnow, 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, Søren, Sicheritz-Pontén, Thomas, Villems, Richard, Nielsen, Rasmus, Krogh, Anders
• Format: Text
• Language: English
• Published: 2010
• Subjects: Article; Greenland; eskimo*; inuit; permafrost; Siberia
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951495; http://www.ncbi.nlm.nih.gov/pubmed/20148029; https://doi.org/10.1038/nature08835

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.