Show simple item record

dc.contributor.authorCardona, Alexia
dc.contributor.authorPagani, Luca
dc.contributor.authorAntao, Tiago
dc.contributor.authorLawson, Daniel John
dc.contributor.authorEichstaedt, Christina
dc.contributor.authorYngvadottir, Bryndis
dc.contributor.authorShwe, Ma Than Than
dc.contributor.authorWee, Joseph
dc.contributor.authorRomero, Irene Gallego
dc.contributor.authorRaj, Srilakshmi
dc.contributor.authorMetspalu, Mait
dc.contributor.authorVillems, Richard
dc.contributor.authorWillerslev, Eske
dc.contributor.authorTyler-Smith, Chris
dc.contributor.authorMalyarchuk, Boris A.
dc.contributor.authorDerenko, Miroslava V.
dc.contributor.authorKivisild, Toomas
dc.date.accessioned2017-11-30T06:02:39Z
dc.date.available2017-11-30T06:02:39Z
dc.date.issued2014
dc.identifier.issn1932-6203
dc.identifier.doi10.1371/journal.pone.0098076
dc.identifier.urihttp://hdl.handle.net/10072/172197
dc.description.abstractFollowing the dispersal out of Africa, where hominins evolved in warm environments for millions of years, our species has colonised different climate zones of the world, including high latitudes and cold environments. The extent to which human habitation in (sub-)Arctic regions has been enabled by cultural buffering, short-term acclimatization and genetic adaptations is not clearly understood. Present day indigenous populations of Siberia show a number of phenotypic features, such as increased basal metabolic rate, low serum lipid levels and increased blood pressure that have been attributed to adaptation to the extreme cold climate. In this study we introduce a dataset of 200 individuals from ten indigenous Siberian populations that were genotyped for 730,525 SNPs across the genome to identify genes and non-coding regions that have undergone unusually rapid allele frequency and long-range haplotype homozygosity change in the recent past. At least three distinct population clusters could be identified among the Siberians, each of which showed a number of unique signals of selection. A region on chromosome 11 (chr11:66–69 Mb) contained the largest amount of clustering of significant signals and also the strongest signals in all the different selection tests performed. We present a list of candidate cold adaption genes that showed significant signals of positive selection with our strongest signals associated with genes involved in energy regulation and metabolism (CPT1A, LRP5, THADA) and vascular smooth muscle contraction (PRKG1). By employing a new method that paints phased chromosome chunks by their ancestry we distinguish local Siberian-specific long-range haplotype signals from those introduced by admixture.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherPublic Library of Sciences
dc.relation.ispartofpagefrome98076-1
dc.relation.ispartofpagetoe98076-11
dc.relation.ispartofissue5
dc.relation.ispartofjournalPLoS One
dc.relation.ispartofvolume9
dc.subject.fieldofresearchPopulation, Ecological and Evolutionary Genetics
dc.subject.fieldofresearchcode060411
dc.titleGenome-wide analysis of cold adaptation in indigenous Siberian populations
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dcterms.licensehttps://creativecommons.org/licenses/by/4.0/
dc.description.versionVersion of Record (VoR)
gro.rights.copyright© 2014 Cardona et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
gro.hasfulltextFull Text
gro.griffith.authorWillerslev, Eske


Files in this item

This item appears in the following Collection(s)

  • Journal articles
    Contains articles published by Griffith authors in scholarly journals.

Show simple item record