@article{a227790cec064f0c8556e7533953d8d7,
title = "Postadmixture selection on chileans targets haplotype involved in pigmentation, thermogenesis and immune defense against pathogens",
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.",
keywords = "Adaptation, Admixture, Gene flow, Genetic ancestry, Genetic drift",
author = "Lucas Vicu{\~n}a and Olga Klimenkova and Tom{\'a}s Norambuena and Martinez, {Felipe I.} and Fernandez, {Mario I.} and Vladimir Shchur and Susana Eyheramendy",
note = "Funding Information: This work was supported by the Fondo Nacional de Desarrollo Cient{\'i}fico y Tecnol{\'o}gico “FONDECYT” (3170038 to L.V., 1120987 to M.I.F., and 1200146 and 1160833 to S.E.). S.E. was additionally supported by the Instituto Milenio de Investigaci{\'o}n sobre los Fundamentos de los Datos (IMFD) (Iniciativa Cient{\'i}fica Milenio). O.K. and V.S. did this research within the framework of the HSE University Basic Research Program. F.I.M. acknowledges funds from Conicyt/Fondap 15110006 and VRI, P. Universidad Cat{\'o}lica de Chile (Proyecto Investigaci{\'o}n Interdisciplinaria 5/2015). L.V. thanks Rasmus Nielsen for hosting him from August 2018 to January 2019 at the Center for Theoretical Evolutionary Genomics, UC Berkeley. We thank the two reviewers for their constructive feedback. Funding Information: This work was supported by the Fondo Nacional de Desarrollo Cient?fico y Tecnol?gico ?FONDECYT? (3170038 to L.V., 1120987 to M.I.F., and 1200146 and 1160833 to S.E.). S.E. was additionally supported by the Instituto Milenio de Investigaci?n sobre los Fundamentos de los Datos (IMFD) (Iniciativa Cient?fica Milenio). O.K. and V.S. did this research within the framework of the HSE University Basic Research Program. F.I.M. acknowledges funds from Conicyt/Fondap 15110006 and VRI, P. Universidad Cat?lica de Chile (Proyecto Investigaci?n Interdisciplinaria 5/2015). L.V. thanks Rasmus Nielsen for hosting him from August 2018 to January 2019 at the Center for Theoretical Evolutionary Genomics, UC Berkeley. We thank the two reviewers for their constructive feedback. Publisher Copyright: {\textcopyright} The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.",
year = "2020",
doi = "10.1093/GBE/EVAA136",
language = "English",
volume = "12",
pages = "1459--1470",
journal = "Genome Biology and Evolution",
issn = "1759-6653",
publisher = "Oxford University Press",
number = "8",
}