- Neandertal STAT2 haplotype in Eurasians
- Introgression of archaic haplotype at OAS1 in Melanesians (Mendez et al. 2012)
Mol Biol Evol (2013) doi: 10.1093/molbev/mst004
Neandertal origin of genetic variation at the cluster of OAS immunity genes
Fernando L. Mendez et al.
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.