Neandertal origin of genetic variation at the cluster of OAS immunity genes

Mol Biol Evol. 2013 Apr;30(4):798-801. doi: 10.1093/molbev/mst004. Epub 2013 Jan 12.


Analyses of ancient DNA from extinct humans reveal signals of at least two independent hybridization events in the history of non-African populations. To date, there are very few examples of specific genetic variants that have been rigorously identified as introgressive. Here, we survey DNA sequence variation in the OAS gene cluster on chromosome 12 and provide strong evidence that a haplotype extending for ~185 kb introgressed from Neandertals. This haplotype is nearly restricted to Eurasians and is estimated to have diverged from the Neandertal sequence ~125 kya. Despite the potential for novel functional variation, the observed frequency of this haplotype is consistent with neutral introgression. This is the second locus in the human genome, after STAT2, carrying distinct haplotypes that appear to have introgressed separately from both Neandertals and Denisova.

Publication types

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

MeSH terms

  • 2',5'-Oligoadenylate Synthetase / genetics*
  • Animals
  • Evolution, Molecular
  • Genetic Loci / immunology*
  • Genetic Speciation
  • Gorilla gorilla / genetics
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Models, Genetic
  • Multigene Family
  • Neanderthals / genetics*
  • Pan troglodytes / genetics
  • Phylogeography
  • Polymorphism, Single Nucleotide*


  • OAS1 protein, human
  • 2',5'-Oligoadenylate Synthetase