Ancient human genome sequence of an extinct Palaeo-Eskimo

Research output: Contribution to journalJournal articlepeer-review

Documents

  • Morten Rasmussen
  • Yingrui Li
  • Stinus Lindgreen
  • Jakob Skou Pedersen
  • Mait Metspalu
  • Ene Metspalu
  • Toomas Kivisild
  • Ramneek Gupta
  • Marcelo Bertalan
  • Kasper Nielsen
  • Yong Wang
  • Maanasa Raghavan
  • Paula Campos
  • Andrew S. Wilson
  • Andrew Gledhill
  • Silvana Tridico
  • Michael Bunce
  • Jonas Khalid Mohamed Awad Binladen
  • Xiaosen Guo
  • Jing Zhao
  • Xiuqing Zhang
  • Hao Zhang
  • Zhuo Li
  • Minfeng Chen
  • Ludovic Antoine Alexandre Orlando
  • Mads Bak
  • Christian Bendixen
  • Tracey L Pierre
  • Bjarne Grønnow
  • Claus Andreasen
  • Sardana A. Fedorova
  • Ludmila P. Osipova
  • Thomas F. G. Higham
  • Christopher Bronk Ramsey
  • Michael H. Crawford
  • Thomas Sicheritz-Pontén
  • Richard Villems
  • Jun Wang
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.
Original languageEnglish
JournalNature
Volume463
Issue number7282
Pages (from-to)757-762
Number of pages6
ISSN0028-0836
DOIs
Publication statusPublished - 11 Feb 2010

    Research areas

  • Cryopreservation, Emigration and Immigration, Extinction, Biological, Genetics, Population, Genome, Human, Genomics, Genotype, Greenland, Hair, History, Ancient, Humans, Inuits, Male, Phenotype, Phylogeny, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Siberia

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