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SLC24A5 — a major skin pigment gene

SLC24A5rs1426654appearance
Trait
4 caveats2 references

What this means

SLC24A5 codes for a calcium/potassium exchanger in the melanosome — the organelle where melanin is made. A single amino-acid change (A111T, the rs1426654 variant) reduces melanin output and accounts for a striking fraction (somewhere between a third and a half) of the skin pigment difference between European and West African populations. It is one of the strongest examples of a single coding change with a large visible effect, and a textbook case of recent positive selection in human populations migrating to higher latitudes.

SLC24A5 is a gene that moves ions in and out of the tiny compartments where your skin makes pigment. A single DNA change reduces how much pigment gets made — and that one change accounts for somewhere between a third and half of the skin colour difference between Europeans and West Africans. It's one of the clearest examples of a single tweak with a big visible effect, and one of the strongest signs that humans evolved lighter skin quickly after moving to higher latitudes.

Caveats

  • Skin pigmentation is polygenic — SLC24A5 is one of many contributing genes.
  • Tanning, vitamin D status, and sun exposure all shape phenotype on top of genotype.
  • The "light" allele is near-universal in European populations, so it carries little within-Europe predictive value.
  • This variant is most informative in populations with mixed ancestry.

References