Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations.

ABSTRACT: The aim of this study is to identify genetic variants that harbour signatures of recent positive selection and may facilitate physiological adaptations to hypobaric hypoxia. To achieve this, we conducted whole genome sequencing and lung function tests in 19 Argentinean highlanders (>3500 m) comparing them to 16 Native American lowlanders. We developed a new statistical procedure using a combination of population branch statistics (PBS) and number of segregating sites by length (nSL) to detect beneficial alleles that arose since the settlement of the Andes and are currently present in 15-50% of the population. We identified two missense variants as significant targets of selection. One of these variants, located within the GPR126 gene, has been previously associated with the forced expirato

SUBMITTER: Eichstaedt CA 

PROVIDER: S-EPMC5638799 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature