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dc.contributor.authorLópez López, Saioa
dc.contributor.authorGarcía, Óscar
dc.contributor.authorYurrebaso, Iñaki
dc.contributor.authorFlores, Carlos
dc.contributor.authorAcosta-Herrera, Marialbert
dc.contributor.authorChen, Hua
dc.contributor.authorGardeazabal, Jesús
dc.contributor.authorCareaga, Jesús María
dc.contributor.authorBoyano López, María Dolores
dc.contributor.authorSánchez, Ana
dc.contributor.authorRatón-Nieto, Juan Antonio
dc.contributor.authorSevilla Mambrilla, Arrate
dc.contributor.authorSmith Zubiaga, Isabel
dc.contributor.authorGarcía de Galdeano Zaldivar, María Alicia
dc.contributor.authorMartínez-Cadenas, Conrado
dc.contributor.authorIzagirre Arribalzaga, Neskuts
dc.contributor.authorDe la Rúa Vaca, Concepción
dc.contributor.authorAlonso Alegre, Santos
dc.date.accessioned2015-11-24T12:28:15Z
dc.date.available2015-11-24T12:28:15Z
dc.date.issued2014-08-05
dc.identifier.citationPLOS ONE 9 (8) : (2014) // Article ID e104367es
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/10810/16164
dc.description.abstractWe aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease. Thus, we enrolled 500 volunteers from a geographically limited population (Basques from the North of Spain) and by resequencing the whole coding region and intron 5 of the 34 most and the 34 least pigmented individuals according to the reflectance distribution, we observed that the polymorphism Leu374Phe (L374F, rs16891982) was statistically associated with skin color variability within this sample. In particular, allele 374F was significantly more frequent among the individuals with lighter skin. Further genotyping an independent set of 558 individuals of a geographically wider population with known ancestry in the Spanish population also revealed that the frequency of L374F was significantly correlated with the incident UV radiation intensity. Selection tests suggest that allele 374F is being positively selected in South Europeans, thus indicating that depigmentation is an adaptive process. Interestingly, by genotyping 119 melanoma samples, we show that this variant is also associated with an increased susceptibility to melanoma in our populations. The ultimate driving force for this adaptation is unknown, but it is compatible with the vitamin D hypothesis. This shows that molecular evolution analysis can be used as a useful technology to predict phenotypic and biomedical consequences in humans.es
dc.description.sponsorshipThis work was supported by the former Spanish Ministerio de Ciencia e Innovacion, project CGL2008-04066/BOS to S.A.; by the Dpt. Educacion, Universidades e Investigacion of the Basque Government, project IT542-10 to C.R.; the University of the Basque Country program UFI11/09; a predoctoral fellowship from the Dept. Educacion, Universidades e Investigacion of the Basque Government to S.L. (BFI09.248); "Programa de Investigacion Cientifica de la Universidad de La Laguna" (boc-a-2010-255-7177) the Health Institute "Carlos III" (FIS PI11/00623) to C.F. and co-financed by the European Regional Development Funds, "A way of making Europe" from the European Union. M.A.H. was supported by a fellowship from the Instituto de Salud Carlos III (FI11/00074). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.es
dc.language.isoenges
dc.publisherPublic Library Sciencees
dc.relationinfo:eu-repo/grantAgreement/MICINN/CGL2008-04066/BOS
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.subjectrecent positive selectiones
dc.subjectwhole-genome associationes
dc.subjectmultilocus genotype dataes
dc.subjectskin pigmentationes
dc.subjecthaplotype struturees
dc.subjectafrican-americanses
dc.subjectDNA polymorphismes
dc.subjectnorth-africaes
dc.subjectmatp genees
dc.subjectvitamin-Des
dc.titleThe Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Populationes
dc.typeinfo:eu-repo/semantics/articlees
dc.rights.holder2014 López et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.es
dc.relation.publisherversionhttp://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104367#abstract0es
dc.identifier.doi10.1371/journal.pone.0104367
dc.departamentoesZoología y biología celular animales_ES
dc.departamentoesGenética, antropología física y fisiología animales_ES
dc.departamentoesBiología celular e histologíaes_ES
dc.departamentoeuZoologia eta animalia zelulen biologiaes_ES
dc.departamentoeuGenetika,antropologia fisikoa eta animalien fisiologiaes_ES
dc.departamentoeuZelulen biologia eta histologiaes_ES
dc.subject.categoriaAGRICULTURAL AND BIOLOGICAL SCIENCES
dc.subject.categoriaMEDICINE
dc.subject.categoriaBIOCHEMISTRY AND MOLECULAR BIOLOGY


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