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- W2007157334 abstract "The melanocortin 1 receptor gene (MC1R) is responsible for normal pigment variation in humans and is highly polymorphic with numerous population-specific alleles. Some MC1R variants have been associated with skin cancer risk.Allele frequency data were compiled on 55 single nucleotide polymorphisms from seven geographically distinct human populations (n = 2306 individuals). MC1R nucleotide diversity, pi, was much higher (10.1 x 10-4) than in other genes for all subjects. A large degree of population differentiation, determined by FST, was also present, particularly between Asia and all other populations, due to the p.R163Q (c.488 G>A) polymorphism. The least amount of differentiation was between the United States, Northern Europe, and Southern Europe. Tajima's D statistic suggested the presence of positive selection in individuals from Europe.This study further quantifies the degree of population-specific genetic variation and suggests that positive selection may be present in European populations in MC1R." @default.
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- W2007157334 date "2008-04-10" @default.
- W2007157334 modified "2023-10-06" @default.
- W2007157334 title "Nucleotide diversity and population differentiation of the Melanocortin 1 Receptor gene, MC1R" @default.
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- W2007157334 doi "https://doi.org/10.1186/1471-2156-9-31" @default.
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