title: A golden age of human pigmentation genetics.
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.
authors.affiliation: Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld 4072, Australia. R.Sturm@imb.uq.edu.au
authors.forename: Richard A
authors.initials: RA
authors.lastname: Sturm
mesh_terms: D000818:Animals; D001692:Biological Transport; D005006:Ethnicity / Q000235:genetics; D005127:Eye Color / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation; D006200:Hair Color / Q000235:genetics; D006801:Humans; D008543:Melanins / Q000235:genetics; D020460:Melanosomes / Q000378:metabolism; D023421:Models, Animal; D008954:Models, Biological; D009154:Mutation; D012880:Skin Pigmentation / Q000235:genetics*
chemical_list: D008543:Melanins