ABO genetic variation in Neanderthals and Denisovans.

摘要: Variation at the ABO locus was one of earliest sources data in study human population identity and history, to this day remains widely genotyped due its importance blood tissue transfusions. Here, we look type variants our archaic relatives: Neanderthals Denisovans. Our goal is understand genetic landscape gene humans, how it relates modern variation. We found two Neanderthal O allele Siberian (O1 O2), these shared with an European Neanderthal, who a heterozygote for O1 variant rare cis-AB variant. The Denisovan individual heterozygous allele, functionally similar humans. Perhaps more surprisingly, O2 can be low frequencies Europeans Southeast Asians, also very frequency East Asians. distance analyses suggest both alleles survive humans inbreeding Neanderthals. find that sequence backgrounds surviving Neanderthal-like retain higher divergence than other genome fragments, supporting view balancing selection operating by retaining highly diverse haplotypes compared portions evolving neutrally.