SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans

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...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 2005-12, Vol.310 (5755), p.1782-1786
Main Authors: Lamason, Rebecca L, Mohideen, Manzoor-Ali P.K, Mest, Jason R, Wong, Andrew C, Norton, Heather L, Aros, Michele C, Jurynec, Michael J, Mao, Xianyun, Humphreville, Vanessa R, Humbert, Jasper E, Sinha, Soniya, Moore, Jessica L, Jagadeeswaran, Pudur, Zhao, Wei, Ning, Gang, Makalowska, Izabela, McKeigue, Paul M, O'Donnell, David, Kittles, Rick, Parra, Esteban J, Mangini, Nancy J, Grunwald, David J, Shriver, Mark D, Canfield, Victor A, Cheng, Keith C
Format: Article
Language:English
Subjects:
Adults
African Americans - genetics
African Continental Ancestry Group - genetics
Alanine - genetics
Alleles
Amino Acid Sequence
Analysis
Animal coloration
Animal colouration
Animals
Antiporters - chemistry
Antiporters - genetics
Antiporters - physiology
Asian Continental Ancestry Group - genetics
Biological and medical sciences
Biological Evolution
Calcium
Calcium - metabolism
Coding
Color of animals
Danio rerio
Embryos
European Continental Ancestry Group - genetics
Fish
Freshwater
Fundamental and applied biological sciences. Psychology
Gene Frequency
Genes
Genetic mutation
Genetic research
Genetic Variation
Genetics
Haplotypes
Heterozygote
Humans
Ion Transport
Larvae
Melanin
Melanins - analysis
Melanophores
Melanosomes
Melanosomes - chemistry
Melanosomes - ultrastructure
Mice
Molecular Sequence Data
Multifactorial Inheritance
Mutation
Pigment Epithelium of Eye - chemistry
Pigment Epithelium of Eye - ultrastructure
Pigmentation
Pigments
Polymorphism
Polymorphism, Single Nucleotide
Research Article
Selection, Genetic
Skin Pigmentation - genetics
Threonine - genetics
Vertebrates: skin, associated glands, phaneres, light organs, various exocrine glands (salt gland, uropygial gland...), adipose tissue, connective tissue
Visual Acuity
Zebrafish - embryology
Zebrafish - genetics
Zebrafish - metabolism
Zebrafish Proteins - chemistry
Zebrafish Proteins - genetics
Zebrafish Proteins - physiology
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Summary: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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.1116238