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

MUZZIO MARINA; SLIVINSKI K; YEE MC; COOKE T; BUSTAMANTE CD; BAILLIET GRACIELA; BRAVI CLAUDIO M; KENNY E

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 basis 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 the 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 employ population branch statistics (PBS) to compensate for other population differences between the highlanders (Andean) and lowlanders (Chaqueños). Given the historical mobility of Andean populations (llama caravans, vertical ecological model, Tiwantisuyo, etc), it is highly likely that extant Andean populations from lower altitudes admixed with those from higher altitudes, and this could conceal adaptation signals if present in both groups due to admixture, which is why we chose a Chaqueña population for our low altitude panel and employ PBS.