Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations

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dc.citation.volume7
dc.contributor.authorEichstaedt CA
dc.contributor.authorPagani L
dc.contributor.authorAntao T
dc.contributor.authorInchley CE
dc.contributor.authorCardona A
dc.contributor.authorMörseburg A
dc.contributor.authorClemente FJ
dc.contributor.authorSluckin TJ
dc.contributor.authorMetspalu E
dc.contributor.authorMitt M
dc.contributor.authorMägi R
dc.contributor.authorHudjashov G
dc.contributor.authorMetspalu M
dc.contributor.authorMormina M
dc.contributor.authorJacobs GS
dc.contributor.authorKivisild T
dc.date.available2017-10-12
dc.date.available2017-09-22
dc.date.issued2017-10-12
dc.description.abstractThe aim of this study is to identify genetic variants that harbour signatures of recent positive selection and may facilitate physiological adaptations to hypobaric hypoxia. To achieve this, we conducted whole genome sequencing and lung function tests in 19 Argentinean highlanders (>3500 m) comparing them to 16 Native American lowlanders. We developed a new statistical procedure using a combination of population branch statistics (PBS) and number of segregating sites by length (nSL) to detect beneficial alleles that arose since the settlement of the Andes and are currently present in 15–50% of the population. We identified two missense variants as significant targets of selection. One of these variants, located within the GPR126 gene, has been previously associated with the forced expiratory volume/forced vital capacity ratio. The other novel missense variant mapped to the EPAS1 gene encoding the hypoxia inducible factor 2α. EPAS1 is known to be the major selection candidate gene in Tibetans. The derived allele of GPR126 is associated with lung function in our sample of highlanders (p < 0.05). These variants may contribute to the physiological adaptations to hypobaric hypoxia, possibly by altering lung function. The new statistical approach might be a useful tool to detect selected variants in population studies.
dc.description.publication-statusPublished
dc.identifierhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000412950600033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=c5bb3b2499afac691c2e3c1a83ef6fef
dc.identifierARTN 13042
dc.identifier.citationSCIENTIFIC REPORTS, 2017, 7
dc.identifier.doi10.1038/s41598-017-13382-4
dc.identifier.elements-id394976
dc.identifier.harvestedMassey_Dark
dc.identifier.issn2045-2322
dc.relation.isPartOfSCIENTIFIC REPORTS
dc.rightsOpen Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
dc.titleEvidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations
dc.typeJournal article
pubs.notesNot known
pubs.organisational-group/Massey University
pubs.organisational-group/Massey University/College of Sciences
pubs.organisational-group/Massey University/College of Sciences/School of Fundamental Sciences
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