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

Molecular Biology and Evolution
Fernando L MendezMichael F Hammer

Abstract

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.

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Related Concepts

Nucleic Acid Hybridization Procedure
Genes, Reiterated
OAS1 protein, human
Chromosomes, Human, Pair 12
Ancient DNA
Pan troglodytes
2-5A Synthetase
Gorilla <Western Gorilla>
Phylogeography
Linkage Disequilibrium

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