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Trends Genet. 2006 Sep;22(9):464-8. Epub 2006 Jul 18.

A golden age of human pigmentation genetics.

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  • 1Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia.


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.

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