The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia
The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia
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DOI：
10.1038/sj.onc.1206442
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发表时间：
2003-05-19
期刊：
影响因子：
8
通讯作者：
Pavan, WJ
中科院分区：
文献类型：
--
作者：
Mollaaghababa, R;Pavan, WJ
SOX 10（+）是高迁移率族结构域SOX转录因子家族的一员，广泛存在于动物界。显性巨结肠（Dom）小鼠神经嵴发育的中断与Sox 10突变相关。人类Sox 10（+）基因突变也与Waardenburg-Shah综合征IV型（WS-IV）中神经系统损伤的发生有关，Sox 10（Dom）小鼠可作为该疾病的鼠模型。Sox 10（Dom）小鼠和WS-IV患者的神经嵴疾病包括色素减退、耳蜗感觉神经性耳聋和肠神经节细胞缺乏症。与这些观察结果一致，已经证明了SOX 10在神经嵴衍生的黑素细胞和神经胶质的适当分化中的关键作用。新出现的数据也显示了SOX 10在促进谱系定型前神经嵴前体细胞存活方面的重要作用。在外周神经系统和黑素细胞中已经鉴定了几个依赖于SOX 10功能调节的基因，这有助于开始鉴定似乎受SOX 10活性调节的多种途径。在这篇综述中，我们将讨论这些靶基因的生物学相关性神经嵴的发展和Sox 10作为一个转录因子的属性。
SOX10(+) is a member of the high-mobility group-domain SOX family of transcription factors, which are ubiquitously found in the animal kingdom. Disruption of neural crest development in the Dominant megacolon (Dom) mice is associated with a Sox10 mutation. Mutations in human Sox10(+) gene have also been linked with the occurrence of neurocristopathies in the Waardenburg-Shah syndrome type IV (WS-IV), for which the Sox10(Dom) mice serve as a murine model. The neural crest disorders in the Sox10(Dom) mice and WS-IV patients consist of hypopigmentation, cochlear neurosensory deafness, and enteric aganglionosis. Consistent with these observations, a critical role for SOX10 in the proper differentiation of neural crest-derived melanocytes and glia has been demonstrated. Emerging data also show an important role for SOX10 in promoting the survival of neural crest precursor cells prior to lineage commitment. Several genes whose regulation is dependent on SOX10 function have been identified in the peripheral nervous system and in melanocytes, helping to begin the identification of the multiple pathways that appear to be modulated by SOX10 activity. In this review, we will discuss the biological relevance of these target genes to neural crest development and the properties of Sox10 as a transcription factor.