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dc.contributor.authorBasu Mallick, Chandana
dc.contributor.authorIliescu, Florin Mircea
dc.contributor.authorMöls, Märt
dc.contributor.authorHill, Sarah
dc.contributor.authorTamang, Rakesh
dc.contributor.authorChaubey, Gyaneshwer
dc.contributor.authorGoto, Rie
dc.contributor.authorHo, Simon YW
dc.contributor.authorGallego Romero, Irene
dc.contributor.authorCrivellaro, Federica
dc.contributor.authorHudjashov, Georgi
dc.contributor.authorRai, Niraj
dc.contributor.authorMetspalu, Mait
dc.contributor.authorMascie-Taylor, CG Nicholas
dc.contributor.authorPitchappan, Ramasamy
dc.contributor.authorSingh, Lalji
dc.contributor.authorMirazon-Lahr, Marta
dc.contributor.authorThangaraj, Kumarasamy
dc.contributor.authorVillems, Richard
dc.contributor.authorKivisild, Toomas
dc.date.accessioned2018-09-08T06:31:02Z
dc.date.available2018-09-08T06:31:02Z
dc.date.issued2013-11
dc.identifier.issn1553-7390
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/279807
dc.description.abstractSkin pigmentation is one of the most variable phenotypic traits in humans. A non-synonymous substitution (rs1426654) in the third exon of SLC24A5 accounts for lighter skin in Europeans but not in East Asians. A previous genome-wide association study carried out in a heterogeneous sample of UK immigrants of South Asian descent suggested that this gene also contributes significantly to skin pigmentation variation among South Asians. In the present study, we have quantitatively assessed skin pigmentation for a largely homogeneous cohort of 1228 individuals from the Southern region of the Indian subcontinent. Our data confirm significant association of rs1426654 SNP with skin pigmentation, explaining about 27% of total phenotypic variation in the cohort studied. Our extensive survey of the polymorphism in 1573 individuals from 54 ethnic populations across the Indian subcontinent reveals wide presence of the derived-A allele, although the frequencies vary substantially among populations. We also show that the geospatial pattern of this allele is complex, but most importantly, reflects strong influence of language, geography and demographic history of the populations. Sequencing 11.74 kb of SLC24A5 in 95 individuals worldwide reveals that the rs1426654-A alleles in South Asian and West Eurasian populations are monophyletic and occur on the background of a common haplotype that is characterized by low genetic diversity. We date the coalescence of the light skin associated allele at 22-28 KYA. Both our sequence and genome-wide genotype data confirm that this gene has been a target for positive selection among Europeans. However, the latter also shows additional evidence of selection in populations of the Middle East, Central Asia, Pakistan and North India but not in South India.
dc.format.mediumPrint-Electronic
dc.languageeng
dc.publisherPublic Library of Science (PLoS)
dc.rightsAttribution 4.0 International (CC BY 4.0)
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectHumans
dc.subjectAntiporters
dc.subjectSkin Pigmentation
dc.subjectHaplotypes
dc.subjectPolymorphism, Single Nucleotide
dc.subjectAlleles
dc.subjectAsian Continental Ancestry Group
dc.subjectEuropean Continental Ancestry Group
dc.subjectGenetic Variation
dc.subjectGenome-Wide Association Study
dc.titleThe light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent.
dc.typeArticle
prism.issueIdentifier11
prism.publicationDate2013
prism.publicationNamePLoS Genet
prism.startingPagee1003912
prism.volume9
dc.identifier.doi10.17863/CAM.27177
dcterms.dateAccepted2013-09-07
rioxxterms.versionofrecord10.1371/journal.pgen.1003912
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2013-11-07
dc.contributor.orcidKivisild, Toomas [0000-0002-6297-7808]
dc.identifier.eissn1553-7404
rioxxterms.typeJournal Article/Review
pubs.funder-project-idEuropean Research Council (261213)
cam.issuedOnline2013-11-07


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)