Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans

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 hi...

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Veröffentlicht in:	Molecular biology and evolution 2013-12, Vol.30 (12), p.2654-2665
Hauptverfasser:	Martínez-Cadenas, Conrado, López, Saioa, Ribas, Gloria, Flores, Carlos, García, Oscar, Sevilla, Arrate, Smith-Zubiaga, Isabel, Ibarrola-Villaba, Maider, Pino-Yanes, Maria del Mar, Gardeazabal, Jesús, Boyano, Dolores, García de Galdeano, Alicia, Izagirre, Neskuts, de la Rúa, Concepción, Alonso, Santos
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles European Continental Ancestry Group - genetics Evolution, Molecular Genetic Predisposition to Disease Genetic Variation Genotype & phenotype Hair Haplotypes Homozygosity Homozygote Humans Melanoma Melanoma - genetics Mutation Phenotype Pigmentation Receptor, Melanocortin, Type 1 - genetics Risk assessment Selection, Genetic Skin Pigmentation - genetics Skin Pigmentation - radiation effects Spain Ultraviolet radiation Ultraviolet Rays - adverse effects
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