Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens
Journal
Genome Biology and Evolution
ISSN
1759-6653
Date Issued
2020
Author(s)
Lucas Vicuña
Olga Klimenkova
Tomás Norambuena
Felipe I Martinez
Vladimir Shchur
Susana Eyheramendy
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Abstract
<jats:title>Abstract</jats:title>
<jats:p>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.</jats:p>
<jats:p>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.</jats:p>
Cite this document
Vicuña, L., Klimenkova, O., Norambuena, T., Martinez, F. I., Fernandez, M. I., Shchur, V., & Eyheramendy, S. (2020). Postadmixture selection on chileans targets haplotype involved in pigmentation, thermogenesis and immune defense against pathogens. Genome Biology and Evolution, 12(8), 1459-1470. https://doi.org/10.1093/gbe/evaa136
Subjects
adaptation
;
admixture
;
gene flow
;
genetic ancestry
;
genetic drift
;
adaptation, biological
;
chile
;
chromosomes, human, pair 12
;
european continental ancestry group
;
female
;
gene flow
;
genome, human
;
haplotypes
;
humans
;
hybridization, genetic
;
indians, south american
;
male
;
pigmentation
;
selection, genetic
;
thermogenesis
;
adaptation
;
american indian
;
caucasian
;
chile
;
chromosome 12
;
female
;
gene flow
;
genetic selection
;
genetics
;
haplotype
;
human
;
human genome
;
hybridization
;
male
;
pigmentation
;
thermogenesis