SLC24A5基因影响脊椎动物色素沉积的研究进展

黑色素广泛分布于细菌、真菌、植物和动物体内并扮演了重要的作用。人类浅色皮肤的色素沉积是由于黑色素细胞内黑色素小体数量、大小和密度的减少造成的，而黑色素小体变化也导致斑马鱼由灰色突变为金色，这个金色突变位点编码一个推定的阳离子交换体SLC24A5基因，该基因位于黑色素小体或其前体的细胞膜上。人类和斑马鱼在这个基因的序列及功能上有很高的同源性。该基因的多态性主要出现在非洲和东亚人身上。而等位基因固定在欧洲人的身上，这与局部杂和性大量减少和较浅的皮肤色素沉积有关，表明SLC24A5基因在人类色素沉积方面起关键作用。作者总结了SLC24A5基因与黑色素的研究进展，并简要介绍了乌骨绵羊的发现及其分子特征。

SLC24A5 Gene Affects Pigmentation in Vertebrates: A Review

Melanin is distributed widely in many organisms including bacteria,fungi,plants and animals.Lighter variation soft pigmentation in humans is associated with diminished number,size,and density of melanosomes,the pigmented or ganelles of melanocytes.Here we reviewed that zebrafish golden mutants share these melanosomal changes and that golden encodes a putative cation exchanger SLC24A5 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.Finally,we reviewed research progress on melanin,SLC24A5 gene and Black-boned sheep.