rs1426654 - The Strongest Known Skin Color Gene
Gene: SLC24A5
rs1426654 (A111T) in SLC24A5 is the single largest-effect variant for human skin pigmentation. The derived A allele reduces melanin production and is the primary genetic basis for lighter skin in European and South Asian populations.
Genotype Interpretations
Lighter skin - derived European variant, nearly fixed in Europe
Intermediate pigmentation
Ancestral genotype - full melanin production
Population Context
This is the most population-differentiated SNP in the entire human genome (Fst > 0.9 between EUR and AFR). The A allele rose to near-fixation in Europe within the last ~10,000 years, one of the strongest signals of natural selection in humans.
Clinical Relevance
No pathological significance. The derived allele is associated with increased vitamin D synthesis at higher latitudes but reduced UV protection.
Sources
- [1] Lamason RL et al. (2005) Science 310:1782-6
- [2] Norton HL et al. (2007) Mol Biol Evol 24:710-22
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