PUBLICATION

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

Authors
Lamason, R.L., Mohideen, M.A., Mest, J.R., Wong, A.C., Norton, H.L., Aros, M.C., Jurynec, M.J., Mao, X., Humphreville, V.R., Humbert, J.E., Sinha, S., Moore, J.L., Jagadeeswaran, P., Zhao, W., Ning, G., Makalowska, I., McKeigue, P.M., O'donnell, D., Kittles, R., Parra, E.J., Mangini, N.J., Grunwald, D.J., Shriver, M.D., Canfield, V.A., and Cheng, K.C.
ID
ZDB-PUB-051219-10
Date
2005
Source
Science (New York, N.Y.)   310(5755): 1782-1786 (Journal)
Registered Authors
Aros, Michele, Canfield, Victor, Cheng, Keith C., Grunwald, David, Humbert, Jasper, Jagadeeswaran, Pudur, Jurynec, Michael, Mest, Jason, Mohideen, Manzoor Pallithotangal, Moore, Jessica L., Sinha, Soniya, Wong, Andrew
Keywords
none
MeSH Terms
  • Alanine/genetics
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Antiporters/chemistry
  • Antiporters/genetics*
  • Antiporters/physiology
  • Asian People/genetics
  • Biological Evolution
  • Black People/genetics
  • Black or African American/genetics
  • Calcium/metabolism
  • Gene Frequency
  • Genes
  • Genetic Variation
  • Haplotypes
  • Heterozygote
  • Humans
  • Ion Transport
  • Melanins/analysis
  • Melanosomes/chemistry
  • Melanosomes/ultrastructure
  • Mice
  • Molecular Sequence Data
  • Multifactorial Inheritance
  • Mutation
  • Pigment Epithelium of Eye/chemistry
  • Pigment Epithelium of Eye/ultrastructure
  • Polymorphism, Single Nucleotide
  • Selection, Genetic
  • Skin Pigmentation/genetics*
  • Threonine/genetics
  • White People/genetics
  • Zebrafish/embryology
  • Zebrafish/genetics*
  • Zebrafish/metabolism
  • Zebrafish Proteins/chemistry
  • Zebrafish Proteins/genetics*
  • Zebrafish Proteins/physiology
PubMed
16357253 Full text @ Science
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.
Genes / Markers
Figures
Show all Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping