Bioinformatický seminár

Tue 22 Mar. 2011, 17:20

Title: Yi et al. Sequencing of 50 human exomes reveals adaptation to high altitude
Speaker: Lenka Trojáková

Residents of the Tibetan Plateau show heritable adaptations to extreme
altitude. We sequenced 50 exomes of ethnic Tibetans, encompassing coding
sequences of 92% of human genes, with an average coverage of 18x per
individual. Genes showing population-specific allele frequency changes,
which represent strong candidates for altitude adaptation, were
identified. The strongest signal of natural selection came from
endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1), a transcription
factor involved in response to hypoxia. One single-nucleotide polymorphism
(SNP) at EPAS1 shows a 78% frequency difference between Tibetan and Han
samples, representing the fastest allele frequency change observed at any
human gene to date. This SNP's association with erythrocyte abundance
supports the role of EPAS1 in adaptation to hypoxia. Thus, a population
genomic survey has revealed a functionally important locus in genetic
adaptation to high altitude.