AI Article Synopsis
- The MC1R gene influences human skin pigmentation and harbors many population-specific variants that are linked to skin cancer risk.
- Analysis of 55 single nucleotide polymorphisms across seven populations revealed high nucleotide diversity in MC1R, particularly significant differentiation between Asian and other populations driven by a specific variant (p.R163Q).
- Evidence of positive selection for MC1R variants was found in European populations, highlighting the role of genetic variation in local adaptations.
Article 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.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324112 | PMC |
| http://dx.doi.org/10.1186/1471-2156-9-31 | DOI Listing |
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