Ancient Human Genome Sequence of an Extinct Palaeo-Eskimo

Nature. 2010 Feb 11;463(7282):757-62. doi: 10.1038/nature08835.

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.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

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