Genome sequence of a 45,000-year-old modern human from western Siberia

Nature. 2014 Oct 23;514(7523):445-9. doi: 10.1038/nature13810.


We present the high-quality genome sequence of a ∼45,000-year-old modern human male from Siberia. This individual derives from a population that lived before-or simultaneously with-the separation of the populations in western and eastern Eurasia and carries a similar amount of Neanderthal ancestry as present-day Eurasians. However, the genomic segments of Neanderthal ancestry are substantially longer than those observed in present-day individuals, indicating that Neanderthal gene flow into the ancestors of this individual occurred 7,000-13,000 years before he lived. We estimate an autosomal mutation rate of 0.4 × 10(-9) to 0.6 × 10(-9) per site per year, a Y chromosomal mutation rate of 0.7 × 10(-9) to 0.9 × 10(-9) per site per year based on the additional substitutions that have occurred in present-day non-Africans compared to this genome, and a mitochondrial mutation rate of 1.8 × 10(-8) to 3.2 × 10(-8) per site per year based on the age of the bone.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Chromosomes, Human, Pair 12 / genetics
  • Diet
  • Evolution, Molecular
  • Fossils*
  • Genome, Human / genetics*
  • Humans
  • Hybridization, Genetic / genetics
  • Male
  • Molecular Sequence Data
  • Mutation Rate
  • Neanderthals / genetics
  • Phylogeny
  • Population Density
  • Population Dynamics
  • Principal Component Analysis
  • Sequence Analysis, DNA
  • Siberia