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Title: Genome-wide analysis of cold adaptation in indigenous Siberian populations
Authors: Cardona 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.
Keywords: low density lipoprotein receptor related protein 5
chromosome structure
cold acclimatization
controlled study
CPT1A gene
energy metabolism
gene frequency
gene identification
genetic selection
genome analysis
indigenous people
LRP5 gene
population genetic structure
PRKG1 gene
Russian Federation
signal transduction
single nucleotide polymorphism
smooth muscle contraction
THADA gene
vascular smooth muscle
cold climate
molecular evolution
population group
Cold Climate
Evolution, Molecular
Polymorphism, Single Nucleotide
Population Groups
Selection, Genetic
Issue Date: 2014
Publisher: Public Library of Science
Citation: Cardona 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.
Abstract: Following 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.
Source Title: PLoS ONE
ISSN: 19326203
DOI: 10.1371/journal.pone.0098076
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