Post-Admixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense Against Pathogens

Genome Biology and Evolution. 2020. Vol. 12. No. 8. P. 1459–1470.

Vicuña L., Klimenkova O., Norambuena T., Martinez F. I., Fernandez M. I., Shchur V., Eyheramendy S.

Detection of positive selection signatures in populations around the world is helping to uncover recent human evolutionary history as well as the genetic basis of diseases. Most human evolutionary genomic studies have been performed in European, African and Asian populations. However, populations with Native American ancestry have been largely underrepresented. Here, we used a genome-wide local ancestry enrichment approach complemented with neutral simulations to identify post-admixture adaptations underwent by admixed Chileans through gene flow from Europeans into local Native Americans. The top significant hits (P = 2.4 x 10−7) are variants in a region on chromosome 12 comprising multiple regulatory elements. This region includes rs12821256, which regulates the expression of KITLG, a well-known gene involved in lighter hair and skin pigmentation in Europeans. Another variant from that region is associated with the long noncoding RNA RP11-13A1.1, which has been specifically involved in the innate immune response against infectious pathogens (Riege, et al. 2017). Our results suggest that these genes were relevant for adaption in Chileans following the Columbian exchange.

Keywords: адаптация, adaptation, Admixture, Gene Flow, Genetic Drift, Genetic Ancestry, Генетическое происхождение, Поток генов, Генетический дрейф

Publication based on the results of: Study of population structure from modern and ancient genomes, study of evolutionary mechanisms with population genetics methods (2020)