Whole genome sequencing to uncover adaptation to high altitude in the Andes

MUZZIO M; SLIVINSKI K; YEE MC; COOKE T; BUSTAMANTE CD; BAILLIET G; BRAVI CM; KENNY EE

San Diego, CA

Congreso; American Society of Human Genetics 64rd Annual Meeting; 2014

American Society of Human Genetics

There is interest in human adaptation to a diversity of environments, including finding the genetic bias to phenotypes favorable to pressures such as hypoxia. We have preliminary Illumina Exome Array data on a set of 43 individuals from high altitude villages in the Andes from the Humahuaca area, Argentina (~2500 meters above sea level) and 11 individuals from a neighboring lowland population, Tartagal, Argentina(less than 500 meters above sea level), all with over 90% Native American ancestry estimated using Admixture software. Currently, we are sequencing full genomes of 10 individuals from each of these populations, in search for new population-specific variants. WE will use the population branch statistics (PBS) to identify highly differentiated genomic regions between the highlanders (Andean) and the lowlanders (Chaquenos). We will discuss the results of our scan in light of related work on the adaptation of Tibetans, Ethiopians, and other Andean populations to hypoxia.