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首页> 外文期刊>Pigment cell research >Spotlight on Spotted Mice: A Review of White Spotting Mouse Mutants and Associated Human Pigmentation Disorders
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Spotlight on Spotted Mice: A Review of White Spotting Mouse Mutants and Associated Human Pigmentation Disorders

机译：斑点小鼠的聚光灯：白色斑点小鼠突变体和相关的人类色素沉着疾病的审查。

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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.
机译：调节神经neural衍生的黑素细胞发育和存活的基因突变可导致成熟黑素细胞减少和/或丢失。皮肤和毛囊中黑素细胞数量的减少本身表现为色素沉着不足的区域，通常在小鼠中被称为白色斑点。迄今为止，已经鉴定出十个与小鼠中白斑表型相关的基因。这些基因中的七个与人类的神经c和黑素细胞疾病有关。这篇综述总结了在小鼠和人类中与这些基因突变相关的表型。我们描述了我们目前对这些基因如何在发育中起作用的理解，并探讨了它们调控黑素细胞发育各个阶段的复杂作用。

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