Spotlight on spotted mice: A review of white spotting mouse mutants and associated human pigmentation disorders

被引：82

作者：

Baxter, LL ^{[1
]}

Hou, L ^{[1
]}

Loftus, SK ^{[1
]}

Pavan, WJ ^{[1
]}

机构：

[1] NHGRI, Mouse Embryol Sect, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

来源：

PIGMENT CELL RESEARCH | 2004年 / 17卷 / 03期

关键词：

neural crest; mutant; spotting; hypopigmentation; neurocristopathy; melanocyte;

D O I：

10.1111/j.1600-0749.2004.00147.x

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Mutation of genes that regulate neural crest-derived melanoblast development and survival can result in reduction and/or loss of mature melanocytes. The reduction in melanocyte number in the skin and hair follicles manifests itself as areas of hypopigmentation, commonly described as white spotting in mice. To date ten genes have been identified which are associated with white-spotting phenotypes in mouse. Seven of these genes are associated with neural crest and melanocyte disorders in humans. This review summarizes the phenotypes associated with mutation of these genes in both mouse and man. We describe our current understanding of how these genes function in development, and explore their complex roles regulating the various stages of melanocyte development.

引用

页码：215 / 224

页数：10

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