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Implications of the admixture process in skin color molecular assessment

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dc.contributor.author De Cerqueira, C.C.S.
dc.contributor.author Hünemeier, T.
dc.contributor.author Gomez-Valdés, J.
dc.contributor.author Ramallo, V.
dc.contributor.author Volasko-Krause, C.D.
dc.contributor.author Barbosa, A.A.L.
dc.contributor.author Vargas-Pinilla, P.
dc.contributor.author Dornelles, R.C.
dc.contributor.author Longo, D.
dc.contributor.author Rothhammer, F.
dc.contributor.author Bedoya, G.
dc.contributor.author Canizales-Quinteros, S.
dc.contributor.author Acuña-Alonzo, V.
dc.contributor.author Gallo, C.
dc.contributor.author Poletti, G.
dc.contributor.author González-José, R.
dc.contributor.author Salzano, F.M.
dc.contributor.author Callegari-Jacques, S.M.
dc.contributor.author Schuler-Faccini, L.
dc.contributor.author Ruiz-Linares, A.
dc.contributor.author Bortolini, M.C.
dc.date.accessioned 2020-06-10T18:12:17Z
dc.date.available 2020-06-10T18:12:17Z
dc.date.issued 2014
dc.identifier.uri https://hdl.handle.net/20.500.12866/8101
dc.description.abstract The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice. en_US
dc.language.iso eng
dc.publisher PLoS
dc.relation.ispartof urn:issn:1932-6203
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Adolescent en_US
dc.subject Adult en_US
dc.subject Female en_US
dc.subject Humans en_US
dc.subject Male en_US
dc.subject Young Adult en_US
dc.subject Brazil en_US
dc.subject Aged en_US
dc.subject Aged, 80 and over en_US
dc.subject Middle Aged en_US
dc.subject Genotype en_US
dc.subject human en_US
dc.subject adult en_US
dc.subject aged en_US
dc.subject female en_US
dc.subject male en_US
dc.subject middle aged en_US
dc.subject very elderly en_US
dc.subject young adult en_US
dc.subject human experiment en_US
dc.subject adolescent en_US
dc.subject genotype en_US
dc.subject article en_US
dc.subject phenotype en_US
dc.subject genetics en_US
dc.subject metabolism en_US
dc.subject Gene Frequency en_US
dc.subject genetic analysis en_US
dc.subject single nucleotide polymorphism en_US
dc.subject skin color en_US
dc.subject skin pigmentation en_US
dc.subject forensic genetics en_US
dc.subject genetic association en_US
dc.subject allele en_US
dc.subject gene frequency en_US
dc.subject sequence analysis en_US
dc.subject molecular genetics en_US
dc.subject genetic marker en_US
dc.subject normal human en_US
dc.subject population distribution en_US
dc.subject breeding en_US
dc.subject pseudogene en_US
dc.subject Breeding en_US
dc.subject gene location en_US
dc.subject melanin en_US
dc.subject Melanins en_US
dc.subject Skin Pigmentation en_US
dc.title Implications of the admixture process in skin color molecular assessment en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1371/journal.pone.0096886
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.03
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02

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