Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pone.0098076
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dc.titleGenome-wide analysis of cold adaptation in indigenous Siberian populations
dc.contributor.authorCardona A.
dc.contributor.authorPagani L.
dc.contributor.authorAntao T.
dc.contributor.authorLawson D.J.
dc.contributor.authorEichstaedt C.A.
dc.contributor.authorYngvadottir B.
dc.contributor.authorShwe Ma.T.T.
dc.contributor.authorWee J.
dc.contributor.authorRomero I.G.
dc.contributor.authorRaj S.
dc.contributor.authorMetspalu M.
dc.contributor.authorVillems R.
dc.contributor.authorWillerslev E.
dc.contributor.authorTyler-Smith C.
dc.contributor.authorMalyarchuk B.A.
dc.contributor.authorDerenko M.V.
dc.contributor.authorKivisild T.
dc.date.accessioned2020-03-26T06:42:00Z
dc.date.available2020-03-26T06:42:00Z
dc.date.issued2014
dc.identifier.citationCardona A., Pagani L., Antao T., Lawson D.J., Eichstaedt C.A., Yngvadottir B., Shwe Ma.T.T., Wee J., Romero I.G., Raj S., Metspalu M., Villems R., Willerslev E., Tyler-Smith C., Malyarchuk B.A., Derenko M.V., Kivisild T. (2014). Genome-wide analysis of cold adaptation in indigenous Siberian populations. PLoS ONE 9 (5) : e98076. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0098076
dc.identifier.issn19326203
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/165949
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. © 2014 Cardona et al.
dc.publisherPublic Library of Science
dc.sourceUnpaywall 20200320
dc.subjectlow density lipoprotein receptor related protein 5
dc.subjectarticle
dc.subjectchromosome structure
dc.subjectcold acclimatization
dc.subjectcontrolled study
dc.subjectCPT1A gene
dc.subjectenergy metabolism
dc.subjectgene
dc.subjectgene frequency
dc.subjectgene identification
dc.subjectgenetic selection
dc.subjectgenome analysis
dc.subjectgenotype
dc.subjecthaplotype
dc.subjecthomozygosity
dc.subjecthuman
dc.subjectindigenous people
dc.subjectLRP5 gene
dc.subjectpopulation genetic structure
dc.subjectPRKG1 gene
dc.subjectRussian Federation
dc.subjectsignal transduction
dc.subjectsingle nucleotide polymorphism
dc.subjectsmooth muscle contraction
dc.subjectTHADA gene
dc.subjectvascular smooth muscle
dc.subjectacclimatization
dc.subjectcold climate
dc.subjectethnology
dc.subjectgenetics
dc.subjectgenomics
dc.subjectmolecular evolution
dc.subjectpopulation group
dc.subjectAcclimatization
dc.subjectCold Climate
dc.subjectEvolution, Molecular
dc.subjectGenomics
dc.subjectHumans
dc.subjectPolymorphism, Single Nucleotide
dc.subjectPopulation Groups
dc.subjectSelection, Genetic
dc.subjectSiberia
dc.typeArticle
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1371/journal.pone.0098076
dc.description.sourcetitlePLoS ONE
dc.description.volume9
dc.description.issue5
dc.description.pagee98076
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