Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens

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dc.contributor.authorVicuña, Lucas
dc.contributor.authorKlimenkova, Olga
dc.contributor.authorNorambuena, Tomás
dc.contributor.authorMartinez, Felipe I.
dc.contributor.authorFernandez, Mario I.
dc.contributor.authorShchur, Vladimir
dc.contributor.authorEyheramendy, Susana
dc.contributor.authorYi, Soojin
dc.date.accessioned2023-05-19T20:51:00Z
dc.date.available2023-05-19T20:51:00Z
dc.date.issued2020
dc.description.abstractDetection 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=2.4x10(-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.
dc.fechaingreso.objetodigital2025-01-02
dc.fuente.origenORCID-mayo23
dc.identifier.doi10.1093/gbe/evaa136
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/70395
dc.identifier.wosidWOS:000582695200019
dc.issue.numeroNo. 8
dc.language.isoen
dc.nota.accesoContenido completo
dc.pagina.final1470
dc.pagina.inicio1459
dc.revistaGenome Biology and Evolution
dc.rightsacceso abierto
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePostadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogenses_ES
dc.typeartículo
dc.volumenVol. 12
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