Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.

Journal article

By impairing both function and survival, the severe reduction in oxygen availability associated with high-altitude environments is likely to act as an agent of natural selection. We used genomic and candidate gene approaches to search for evidence of such genetic selection. First, a genome-wide allelic differentiation scan (GWADS) comparing indigenous highlanders of the Tibetan Plateau (3,200-3,500 m) with closely related lowland Han revealed a genome-wide significant divergence across eight ...

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Authors: Beall, C; Cavalleri, G; Deng, L; Elston, R; Gao, Y

• Publication status: Published
• Journal: Proceedings of the National Academy of Sciences of the United States of America
• Volume: 107
• Issue: 25
• Pages: 11459-11464
• Publication date: 2010-06-01
• DOI: 10.1073/pnas.1002443107
• EISSN: 1091-6490
• ISSN: 0027-8424
• Language: English
• Keywords: Linkage Disequilibrium; Altitude Sickness; Anoxia; Tibet; Genome, Human; Hemoglobins; Polymorphism, Single Nucleotide; Homozygote; Selection, Genetic; Alleles; Altitude; Humans; Genetic Variation; Basic Helix-Loop-Helix Transcription Factors