Journal
MOLECULAR BIOLOGY AND EVOLUTION
Volume 30, Issue 4, Pages 798-801Publisher
OXFORD UNIV PRESS
DOI: 10.1093/molbev/mst004
Keywords
human origins; hybridization; Neandertal; TMRCA; linkage disequilibrium
Funding
- National Science Foundation HOMINID grant [BCS0423670]
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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 similar to 185 kb introgressed from Neandertals. This haplotype is nearly restricted to Eurasians and is estimated to have diverged from the Neandertal sequence similar to 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.
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