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Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in South Europeans
dc.contributor.author | Martinez-Cadenas, Conrado | |
dc.contributor.author | López, Saioa | |
dc.contributor.author | Ribas, Gloria | |
dc.contributor.author | Flores, Carlos | |
dc.contributor.author | García, Oscar | |
dc.contributor.author | Sevilla, Arrate | |
dc.contributor.author | Smith-Zubiaga, I. | |
dc.contributor.author | Ibarrola-Villava, Maider | |
dc.contributor.author | Pino-Yanes, M . | |
dc.contributor.author | Gardeazabal, Jesús | |
dc.contributor.author | Boyano, Dolores | |
dc.contributor.author | García de Galdeano, Alicia | |
dc.contributor.author | Izagirre, Neskuts | |
dc.contributor.author | de la Rúa, Concepción | |
dc.contributor.author | Alonso, Santos | |
dc.date.accessioned | 2014-06-13T07:39:52Z | |
dc.date.available | 2014-06-13T07:39:52Z | |
dc.date.issued | 2013 | |
dc.identifier.citation | MARTÍNEZ-CADENAS, Conrado, et al. Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in South Europeans. Molecular biology and evolution, 2013, vol. 30, no 12, p. 2654-2665. | ca_CA |
dc.identifier.issn | 0737-4038 | |
dc.identifier.issn | 1537-1719 | |
dc.identifier.uri | http://hdl.handle.net/10234/94790 | |
dc.description.abstract | In humans, the geographical apportionment of the coding diversity of the pigmentary locus melanocortin-1 receptor (MC1R) is, unusually, higher in Eurasians than in Africans. This atypical observation has been interpreted as the result of purifying selection due to functional constraint on MC1R in high UV-B radiation environments. By analyzing 3,142 human MC1R alleles from different regions of Spain in the context of additional haplotypic information from the 1000 Genomes (1000G) Project data, we show that purifying selection is also strong in southern Europe, but not so in northern Europe. Furthermore, we show that purifying and positive selection act simultaneously on MC1R. Thus, at least in Spain, regions at opposite ends of the incident UV-B radiation distribution show significantly different frequencies for the melanoma-risk allele V60L (a mutation also associated to red hair and fair skin and even blonde hair), with higher frequency of V60L at those regions of lower incident UV-B radiation. Besides, using the 1000G south European data, we show that the V60L haplogroup is also characterized by an extended haplotype homozygosity (EHH) pattern indicative of positive selection. We, thus, provide evidence for an adaptive value of human skin depigmentation in Europe and illustrate how an adaptive process can simultaneously help to maintain a disease-risk allele. In addition, our data support the hypothesis proposed by Jablonski and Chaplin (Human skin pigmentation as an adaptation to UVB radiation. Proc Natl Acad Sci U S A. 2010;107:8962-8968), which posits that habitation of middle latitudes involved the evolution of partially depigmented phenotypes that are still capable of suitable tanning. | ca_CA |
dc.description.sponsorShip | This works was supported by the former Spanish Ministerio de Ciencia e Innovación, project CGL2008-04066/BOS to S.A.; by the Dpt. Educacion, Universidades e Investigación of the Basque Government, project IT542-10; by program UFI11/09 by the University of the Basque Country, by "Programa de Investigacion Cientifica de la Universidad de La Laguna" (boc-a- 2010-255-7177), and by grants from the Health Institute “Carlos III” (FIS PI08/1383, 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.P.Y. was supported by a postdoctoral fellowship from Fundación Ramón Areces. We thank the Spanish Banco Nacional de AND (BNADN) (http://www.bancoadn.org/) for providing us with DNA samples from all over Spain. We also thank the Spanish Agencia Estatal de Meteorología (AEMET) (http://www.aemet.es/) for kindly providing us with the UV-B radiation data. | ca_CA |
dc.format.extent | 12 p. | ca_CA |
dc.format.mimetype | application/pdf | ca_CA |
dc.language.iso | eng | ca_CA |
dc.publisher | Oxford University Press | ca_CA |
dc.relation.isPartOf | Molecular biology and evolution (2013) vol. 30, no 12, | ca_CA |
dc.rights | Copyright © Society for Molecular Biology and Evolution | ca_CA |
dc.rights.uri | http://rightsstatements.org/vocab/InC/1.0/ | * |
dc.subject | Skin pigmentation | ca_CA |
dc.subject | MC1R | ca_CA |
dc.subject | Adaptive evolution | ca_CA |
dc.subject | Melanoma | ca_CA |
dc.title | Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in South Europeans | ca_CA |
dc.type | info:eu-repo/semantics/article | ca_CA |
dc.identifier.doi | http://dx.doi.org/10.1093/molbev/mst158 | |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | ca_CA |
dc.relation.publisherVersion | http://mbe.oxfordjournals.org/content/early/2013/09/12/molbev.mst158.abstract#aff-1 | ca_CA |
dc.type.version | info:eu-repo/semantics/publishedVersion |
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