Review of human pigmentation genetics

A new paper in Trends in Genetics by Richard Sturm that reviews some of the most recent research on human pigmentation genetics, mainly highlighting SLC24A5.

A golden age of human pigmentation genetics

Richard A. Sturm

Trends in Genetics, Epub ahead of print

Abstract: The zebrafish golden mutation is characterized by the production of small and irregular-shaped melanin granules, resulting in a lightening of the pigmented lateral stripes of the animal. The recent positional cloning and localization of the golden gene, combined with genotype-phenotype correlations of alleles of its human orthologue (SLC24A5) in African-American and African-Caribbean populations, provide insights into the genetic and molecular basis of human skin colour. SLC24A5 promotes melanin deposition through maturation of the melanosome, highlighting the importance of ion-exchange in the function of this organelle.

some notes of interest:
- 127 loci in which gene mutations have been linked to changes in mouse coat hair, skin or eye colour.
- importance of getting a phenotype-genotype correlation (functional genetics) for SLC24A5
- SLC24A5 in a genomic region representing the second largest span of diminished heterozygosity in the European genome (according to recent Voight et al. study in PLoS Biology)

I would just also add that we have very little information on the skin pigmentation genetics in Native American populations.