Author | dc.contributor.author | Silva de Cerqueira, Caio Cesar | |
Author | dc.contributor.author | Hünemeier, Tábita | es_CL |
Author | dc.contributor.author | Gómez Valdés, Jorge | es_CL |
Author | dc.contributor.author | Ramallo, Virginia | es_CL |
Author | dc.contributor.author | Volasko Krause, Carla Daiana | es_CL |
Author | dc.contributor.author | Leal Barbosa, Ana Angélica | es_CL |
Author | dc.contributor.author | Vargas Pinilla, Pedro | es_CL |
Author | dc.contributor.author | Ciconet Dornelles, Rodrigo | es_CL |
Author | dc.contributor.author | Longo, Danaé | es_CL |
Author | dc.contributor.author | Rothhammer Engel, Francisco | es_CL |
Author | dc.contributor.author | Bedoya, Gabriel | es_CL |
Author | dc.contributor.author | Canizales Quinteros, Samuel | es_CL |
Author | dc.contributor.author | Acuña Alonzo, Víctor | es_CL |
Author | dc.contributor.author | Gallo, Carla | es_CL |
Author | dc.contributor.author | Poletti, Giovanni | es_CL |
Author | dc.contributor.author | González José, Rolando | es_CL |
Author | dc.contributor.author | Mauro Salzano, Francisco | es_CL |
Author | dc.contributor.author | Callegari-Jacques, Sídia María | es_CL |
Author | dc.contributor.author | Schuler-Faccini, Lavínia | es_CL |
Author | dc.contributor.author | Ruiz Linares, Andrés | es_CL |
Author | dc.contributor.author | Bortolini, María Cátira | es_CL |
Admission date | dc.date.accessioned | 2015-01-06T13:52:42Z | |
Available date | dc.date.available | 2015-01-06T13:52:42Z | |
Publication date | dc.date.issued | 2014 | |
Cita de ítem | dc.identifier.citation | PLOS One May 2014 | Volume 9 | Issue 5 | e96886 | en_US |
Identifier | dc.identifier.other | DOI: 10.1371/journal.pone.0096886 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/129545 | |
General note | dc.description | Artículo de publicación ISI | en_US |
Abstract | 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 | en_US |
Patrocinador | dc.description.sponsorship | Funding provided by the following: Brazil: Coordenac¸a˜o de Aperfeic¸oamento de Pessoal de Nı´vel Superior (CAPES), the Conselho Nacional de
Desenvolvimento Cientı´fico e Tecnolo´ gico (CNPq; (400554/2012-7, PVE - Cieˆncia sem Fronteiras),the Fundac¸a˜o de Amparo a` Pesquisa do Estado do Rio Grande do
Sul, (FAPERGS; PRONEX and PqG 11/1426-0; UK: Leverhulme Trust and Biotechnology and Biological Sciences Research Council of the United Kingdom. | en_US |
Lenguage | dc.language.iso | en | en_US |
Publisher | dc.publisher | PLOS One | en_US |
Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | * |
Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | * |
Título | dc.title | Implications of the admixture process in skin color molecular assessment | en_US |
Document type | dc.type | Artículo de revista | |