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Título

Epigenetics in ENS development and Hirschsprung disease

AutorTorroglosa, Ana; Alves, M. M.; Fernández, Raquel M.; Antiñolo, Guillermo ; Hofstra, Robert MW; Borrego, Salud
Palabras claveNeural crest cells
Hirschsprung disease
Epigenetics
Enteric nervous system
Fecha de publicación15-sep-2016
EditorElsevier
CitaciónDevelopmental Biology 417(2): 209-216 (2016)
ResumenHirschsprung 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.
Versión del editorhttp://doi.org/10.1016/j.ydbio.2016.06.017
URIhttp://hdl.handle.net/10261/143515
DOI10.1016/j.ydbio.2016.06.017
Identificadoresissn: 0012-1606
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