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

被引：757

作者：

Lamason, RL

Mohideen, MAPK

Mest, JR

Wong, AC

Norton, HL

Aros, MC

Jurynec, MJ

Mao, XY

Humphreville, VR

Humbert, JE

Sinha, S

Moore, JL

Jagadeeswaran, P

Zhao, W

Ning, G

Makalowska, I

McKeigue, PM

O'Donnell, D

Kittles, R

Parra, EJ

Mangini, NJ

Grunwald, DJ

Shriver, MD

Canfield, VA

Cheng, KC ^{[1
]}

机构：

[1] Penn State Univ, Coll Med, Jake Gittlen Canc Res Fdn, Dept Pathol, Hershey, PA 17033 USA

[2] Penn State Univ, Coll Med, Intercoll Grad Degree Program Genet, Hershey, PA 17033 USA

[3] Penn State Univ, Coll Med, Dept Hlth Evaluat Sci, Hershey, PA 17033 USA

[4] Penn State Univ, Coll Med, Dept Pharmacol, Hershey, PA 17033 USA

[5] Penn State Univ, Coll Med, Dept Biochem & Mol Biol, Hershey, PA 17033 USA

[6] Penn State Univ, Huck Inst Life Sci, University Pk, PA 16802 USA

[7] Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA

[8] Weis Ctr Res, Dept Genet, Danville, PA 17822 USA

[9] Univ N Texas, Dept Biol Sci, Denton, TX 76203 USA

[10] Univ Coll Dublin, Conway Inst, Dublin 4, Ireland

[11] Ohio State Univ, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA

[12] Univ Toronto, Dept Anthropol, Mississauga, ON L5L 1C6, Canada

[13] Indiana Univ, Sch Med NW, Dept Anat & Cell Biol, Gary, IN 46408 USA

来源：

SCIENCE | 2005年 / 310卷 / 5755期

关键词：

D O I：

10.1126/science.1116238

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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 SLC24AS gene in human pigmentation.

引用

页码：1782 / 1786

页数：5

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