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BMC Genet. 2008 Apr 10;9:31. doi: 10.1186/1471-2156-9-31.

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

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  • 1Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, USA. savagesh@mail.nih.gov

Abstract

BACKGROUND:

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.

RESULTS:

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.

CONCLUSION:

This study further quantifies the degree of population-specific genetic variation and suggests that positive selection may be present in European populations in MC1R.

PMID:
18402696
[PubMed - indexed for MEDLINE]
PMCID:
PMC2324112
Free PMC Article
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