The role of SOX10 during enteric nervous system development
The role of SOX10 during enteric nervous system development
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DOI：
10.1016/j.ydbio.2013.04.024
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发表时间：
2013-10-01
影响因子：
2.7
通讯作者：
Sham, Mai Har
中科院分区：
文献类型：
--
作者：
Bondurand, Nadege;Sham, Mai Har
SOX10 转录因子是迁移性多能神经嵴 (NC) 祖细胞及其几种分化衍生物的特征标记。 SOX10 与 Waardenburg-Hirschsprung 病（色素缺陷、耳聋和肠无神经节细胞病）的关系以及突变动物模型的研究极大地有助于了解其在神经嵴细胞 (NCC) 中的功能，特别是在黑素细胞和肠神经系统 (ENS) 中的功能。基于细胞的研究进一步证明了该转录因子在维持 NC 祖细胞数量和决定神经胶质细胞命运方面的重要作用。在出现 SOX10 突变的患者中观察到的表型变异与分子遗传学和动物模型研究一致，表明 SOX10 与不同的伙伴因素协同作用； SOX10 的许多遗传修饰剂已被鉴定。本研究回顾了 SOX10 在 ENS 正常发育和疾病条件下的表达、调控和功能，以及 SOX10 与其他 ENS 基因/因子的遗传和分子相互作用。我们还讨论了未来的研究领域。对 SOX10 功能的进一步了解将受益于基因组和细胞生物学研究，这些研究整合了细胞内在分子机制以及肠道 NCC 与生态位环境的相互作用。 (C) 2013 Elsevier Inc. 保留所有权利。
The SOX10 transcription factor is a characteristic marker for migratory multipotent neural crest (NC) progenitors as well as several of their differentiated derivatives. The involvement of SOX10 in Waardenburg-Hirschsprung disease (pigmentation defects, deafness and intestinal aganglionosis) and studies of mutant animal models have contributed significantly to the understanding of its function in neural crest cells (NCC) in general and in the melanocytes and enteric nervous system (ENS) in particular. Cell-based studies have further demonstrated the important roles of this transcription factor in maintaining the NC progenitor cell number and in determining glial cell fate. Phenotypic variability observed among patients presenting with SOX10 mutations is in agreement with molecular genetics and animal model studies, which revealed that SOX10 cooperates with different partner factors; a number of genetic modifiers of SOX10 have been identified. This study reviews the expression, regulation, and function of SOX10 in normal development of the ENS and in disease conditions, as well as the genetic and molecular interactions of SOX10 with other ENS genes/factors. We also discuss future research areas. Further understanding of SOX10 function will benefit from genomic and cell biological studies that integrate the cell-intrinsic molecular mechanisms and the interactions of the enteric NCC with the niche environment. (C) 2013 Elsevier Inc. All rights reserved.