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

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. Taji

SUBMITTER: Savage SA 

PROVIDER: S-EPMC2324112 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature