Study of MC1R and SLC24A5 Gene Diversity in Global Populations: Evaluation of Evolutionary and Environmental Aspects

April 2017

Leonardo Arduíno Marano

TLDR SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.

The study investigated the genetic diversity of the MC1R and SLC24A5 genes across 26 global populations, using data from Phase 3 of the 1000 Genomes Project. These genes are crucial in human pigmentation through melanogenesis. The research aimed to understand their diversity patterns and potential natural selection events, such as UV radiation intensity in different regions. While distinct patterns were observed among African, European, and Asian groups, a clear selective sweep was noted for SLC24A5, indicated by high linkage disequilibrium and low haplotype diversity. However, no clear correlation was found between UV radiation intensity and haplotype diversity for SLC24A5.

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