2. Academic Validation
  3. SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans

SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans

  • Science. 2005 Dec 16;310(5755):1782-6. doi: 10.1126/science.1116238.
Rebecca L Lamason 1,  Manzoor-Ali P K Mohideen,  Jason R Mest,  Andrew C Wong,  Heather L Norton,  Michele C Aros,  Michael J Jurynec,  Xianyun Mao,  Vanessa R Humphreville,  Jasper E Humbert,  Soniya Sinha,  Jessica L Moore,  Pudur Jagadeeswaran,  Wei Zhao,  Gang Ning,  Izabela Makalowska,  Paul M McKeigue,  David O'donnell,  Rick Kittles,  Esteban J Parra,  Nancy J Mangini,  David J Grunwald,  Mark D Shriver,  Victor A Canfield,  Keith C Cheng
Affiliations

Affiliation

  • 1 Jake Gittlen Cancer Research Foundation, Department of Pathology, The Pennsylvania State University College of Medicine, Hershey, PA 17033, USA.
PMID: 16357253 DOI: 10.1126/science.1116238
Abstract

Lighter variations of pigmentation in humans are associated with diminished number, size, and density of melanosomes, the pigmented organelles of melanocytes. Here we show that zebrafish golden mutants share these melanosomal changes and that golden encodes a putative cation exchanger slc24a5 (nckx5) that localizes to an intracellular membrane, likely the melanosome or its precursor. The human ortholog is highly similar in sequence and functional in zebrafish. The evolutionarily conserved ancestral allele of a human coding polymorphism predominates in African and East Asian populations. In contrast, the variant allele is nearly fixed in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations, suggesting a key role for the SLC24A5 gene in human pigmentation.

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