A draft sequence of the Neandertal genome

Science. 2010 May 7;328(5979):710-722. doi: 10.1126/science.1188021.


Neandertals, the closest evolutionary relatives of present-day humans, lived in large parts of Europe and western Asia before disappearing 30,000 years ago. We present a draft sequence of the Neandertal genome composed of more than 4 billion nucleotides from three individuals. Comparisons of the Neandertal genome to the genomes of five present-day humans from different parts of the world identify a number of genomic regions that may have been affected by positive selection in ancestral modern humans, including genes involved in metabolism and in cognitive and skeletal development. We show that Neandertals shared more genetic variants with present-day humans in Eurasia than with present-day humans in sub-Saharan Africa, suggesting that gene flow from Neandertals into the ancestors of non-Africans occurred before the divergence of Eurasian groups from each other.

Publication types

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

MeSH terms

  • Animals
  • Asian People / genetics
  • Base Sequence
  • Black People / genetics
  • Bone and Bones
  • DNA, Mitochondrial / genetics
  • Evolution, Molecular
  • Extinction, Biological
  • Female
  • Fossils*
  • Gene Dosage
  • Gene Flow
  • Genetic Variation
  • Genome*
  • Genome, Human*
  • Haplotypes
  • Hominidae / genetics*
  • Humans
  • Pan troglodytes / genetics
  • Polymorphism, Single Nucleotide
  • Selection, Genetic
  • Sequence Alignment
  • Sequence Analysis, DNA*
  • Time
  • White People / genetics


  • DNA, Mitochondrial