Universidad Peruana Cayetano Heredia

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

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dc.contributor.author Adhikari, K.
dc.contributor.author Mendoza-Revilla, J.
dc.contributor.author Sohail, A.
dc.contributor.author Fuentes-Guajardo, M.
dc.contributor.author Lampert, J.
dc.contributor.author Chacón-Duque, J.C.
dc.contributor.author Hurtado, M.
dc.contributor.author Villegas, V.
dc.contributor.author Granja, V.
dc.contributor.author Acuña-Alonzo, V.
dc.contributor.author Jaramillo, C.
dc.contributor.author Arias, W.
dc.contributor.author Lozano, R.B.
dc.contributor.author Everardo, P.
dc.contributor.author Gómez-Valdés, J.
dc.contributor.author Villamil-Ramírez, H.
dc.contributor.author Silva de Cerqueira, C.C.
dc.contributor.author Hunemeier, T.
dc.contributor.author Ramallo, V.
dc.contributor.author Schuler-Faccini, L.
dc.contributor.author Salzano, F.M.
dc.contributor.author Gonzalez-José, R.
dc.contributor.author Bortolini, M.-C.
dc.contributor.author Canizales-Quinteros, S.
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Poletti, G.
dc.contributor.author Bedoya, G.
dc.contributor.author Rothhammer, F.
dc.contributor.author Tobin, D.J.
dc.contributor.author Fumagalli, M.
dc.contributor.author Balding, D.
dc.contributor.author Ruiz-Linares, A.
dc.date.accessioned 2019-12-06T21:02:56Z
dc.date.available 2019-12-06T21:02:56Z
dc.date.issued 2019
dc.identifier.uri https://hdl.handle.net/20.500.12866/7500
dc.description.abstract We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans. en_US
dc.language.iso eng
dc.publisher Springer Nature
dc.relation.ispartofseries Nature Communications
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject allele en_US
dc.subject Alleles en_US
dc.subject amino acid substitution en_US
dc.subject Article en_US
dc.subject Asian continental ancestry group en_US
dc.subject Asian Continental Ancestry Group en_US
dc.subject binding site en_US
dc.subject Biological Evolution en_US
dc.subject carrier protein en_US
dc.subject Caucasian en_US
dc.subject chromosome 1q en_US
dc.subject chromosome 20q en_US
dc.subject chromosome 22q en_US
dc.subject controlled study en_US
dc.subject convergent evolution en_US
dc.subject epistasis en_US
dc.subject Epistasis, Genetic en_US
dc.subject ethnic group en_US
dc.subject Ethnic Groups en_US
dc.subject European Continental Ancestry Group en_US
dc.subject evolution en_US
dc.subject exon en_US
dc.subject eye color en_US
dc.subject Eye Color en_US
dc.subject female en_US
dc.subject Female en_US
dc.subject gene expression en_US
dc.subject Gene Expression en_US
dc.subject gene frequency en_US
dc.subject Gene Frequency en_US
dc.subject gene linkage disequilibrium en_US
dc.subject gene locus en_US
dc.subject genetic association en_US
dc.subject genetics en_US
dc.subject Genetics, Population en_US
dc.subject genome-wide association study en_US
dc.subject Genome-Wide Association Study en_US
dc.subject Genome, Human en_US
dc.subject GRM5 protein, human en_US
dc.subject guanine nucleotide exchange factor en_US
dc.subject Guanine Nucleotide Exchange Factors en_US
dc.subject hair root en_US
dc.subject HERC2 protein, human en_US
dc.subject human en_US
dc.subject human cell en_US
dc.subject human experiment en_US
dc.subject human genome en_US
dc.subject human tissue en_US
dc.subject Humans en_US
dc.subject immunohistochemistry en_US
dc.subject intron en_US
dc.subject Latin America en_US
dc.subject Latin American medicine en_US
dc.subject male en_US
dc.subject Male en_US
dc.subject medical photography en_US
dc.subject melanin en_US
dc.subject melanocyte en_US
dc.subject membrane protein en_US
dc.subject Membrane Proteins en_US
dc.subject Membrane Transport Proteins en_US
dc.subject metabotropic receptor 5 en_US
dc.subject MFSD12 protein, human en_US
dc.subject normal human en_US
dc.subject OCA2 protein, human en_US
dc.subject phenotype en_US
dc.subject phenotypic variation en_US
dc.subject Polymorphism, Single Nucleotide en_US
dc.subject population genetics en_US
dc.subject Quantitative Trait Loci en_US
dc.subject quantitative trait locus en_US
dc.subject Receptor, Metabotropic Glutamate 5 en_US
dc.subject single nucleotide polymorphism en_US
dc.subject skin color en_US
dc.subject skin pigmentation en_US
dc.subject Skin Pigmentation en_US
dc.subject solar radiation en_US
dc.subject South and Central America en_US
dc.subject transcription factor EMX2 en_US
dc.subject transcription factor YY1 en_US
dc.title A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/s41467-018-08147-0
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.03
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.04.00
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.03.00
dc.relation.issn 2041-1723


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