Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA.

ABSTRACT: As modern humans migrated out of Africa, they encountered many new environmental conditions, including greater temperature extremes, different pathogens and higher altitudes. These diverse environments are likely to have acted as agents of natural selection and to have led to local adaptations. One of the most celebrated examples in humans is the adaptation of Tibetans to the hypoxic environment of the high-altitude Tibetan plateau. A hypoxia pathway gene, EPAS1, was previously identified as having the most extreme signature of positive selection in Tibetans, and was shown to be associated with differences in haemoglobin concentration at high altitude. Re-sequencing the region around EPAS1 in 40 Tibetan and 40 Han individuals, we find that this gene has a highly unusual haplotype structure

SUBMITTER: Huerta-Sanchez E 

PROVIDER: S-EPMC4134395 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature