Postadmixture selection on chileans targets haplotype involved in pigmentation, thermogenesis and immune defense against pathogens

Lucas Vicuña, Olga Klimenkova, Tomás Norambuena, Felipe I. Martinez, Mario I. Fernandez, Vladimir Shchur, Susana Eyheramendy

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

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 postadmixture adaptations underwent by admixed Chileans through gene flow from Europeans into local Native Americans. The top significant hits (P = 2.4×10-7) 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 as well as in thermogenesis. 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. Our results suggest that these genes were relevant for adaptation in Chileans following the Columbian exchange.

Original languageEnglish
Pages (from-to)1459-1470
Number of pages12
JournalGenome Biology and Evolution
Volume12
Issue number8
DOIs
StatePublished - 2020
Externally publishedYes

Keywords

  • Adaptation
  • Admixture
  • Gene flow
  • Genetic ancestry
  • Genetic drift

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