Epigenetics in ENS development and Hirschsprung disease
Epigenetics in ENS development and Hirschsprung disease
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DOI：
10.1016/j.ydbio.2016.06.017
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发表时间：
2016-09-15
影响因子：
2.7
通讯作者：
Borrego, S.
中科院分区：
文献类型：
--
作者：
Torroglosa, A.;Alves, M. M.;Borrego, S.
先天性巨结肠病 (HSCR, OMIM 142623) 是一种神经嵴病，由源自神经嵴细胞 (NCC) 的肠神经系统 (ENS) 祖细胞无法在胃肠道内迁移、增殖、分化或存活，导致远端结肠神经节缺失而引起。 ENS 的形成是一个复杂的过程，受到涉及 NCC 和肠道环境的大量分子和信号通路的调节。这个严格调控的过程需要正确调控 ENS 特定基因的表达。这些基因表达的改变可能会产生巨大的后果。控制基因表达的几种机制已经被描述，例如DNA修饰（表观遗传机制）、转录调控（转录因子、增强子、阻遏子和沉默子）、转录后调控（3'UTR和miRNA）和翻译调控。在这篇综述中，我们重点关注已被证实的表观遗传DNA修饰。 到目前为止，我们在 ENS 开发的背景下进行了描述。此外，我们还描述了与 HSCR 发生相关的变化。 (C) 2016 Elsevier Inc. 保留所有权利。
Hirschsprung disease (HSCR, OMIM 142623) is a neurocristopathy caused by a failure of the enteric nervous system (ENS) progenitors derived from neural crest cells (NCCs), to migrate, proliferate, differentiate or survive to and within the gastrointestinal tract, resulting in aganglionosis in the distal colon. The formation of the ENS is a complex process, which is regulated by a large range of molecules and signalling pathways involving both the NCCs and the intestinal environment. This tightly regulated process needs correct regulation of the expression of ENS specific genes. Alterations in the expression of these genes can have dramatic consequences.Several mechanisms that control the expression of genes have been described, such as DNA modification (epigenetic mechanisms), regulation of transcription (transcription factor, enhancers, repressors and silencers), post-transcriptional regulation (3'UTR and miRNAs) and regulation of translation.In this review, we focus on the epigenetic DNA modifications that have been described so far in the context of the ENS development. Moreover we describe the changes that are found in relation to the onset of HSCR. (C) 2016 Elsevier Inc. All rights reserved.