Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

Abstract Hirschsprung disease (HSCR) is attributed to a failure of neural crest cells (NCCs) to migrate, proliferate, differentiate and/or survive in the bowel wall during embryonic Enteric Nervous System (ENS) development. ENS formation is the result from a specific gene expression pattern regulate...

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Autores principales:	Leticia Villalba-Benito, Ana Torroglosa, Raquel María Fernández, Macarena Ruíz-Ferrer, María José Moya-Jiménez, Guillermo Antiñolo, Salud Borrego
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/793aabe852e5456db9fa289db4eacdb4
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spelling	oai:doaj.org-article:793aabe852e5456db9fa289db4eacdb42021-12-02T12:32:06ZOverexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease10.1038/s41598-017-06539-82045-2322https://doaj.org/article/793aabe852e5456db9fa289db4eacdb42017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-06539-8https://doaj.org/toc/2045-2322Abstract Hirschsprung disease (HSCR) is attributed to a failure of neural crest cells (NCCs) to migrate, proliferate, differentiate and/or survive in the bowel wall during embryonic Enteric Nervous System (ENS) development. ENS formation is the result from a specific gene expression pattern regulated by epigenetic events, such DNA methylation by the DNA methyltransferases (DNMTs), among other mechanisms. Specifically, DNMT3b de novo methyltransferase is associated with NCCs development and has been shown to be implicated in ENS formation and in HSCR. Aiming to elucidate the specific mechanism underlying the DNMT3b role in such processes, we have performed a chromatin immunoprecipitation coupled with massively parallel sequencing analysis to identify the DNMT3B target genes in enteric precursor cells (EPCs) from mice. Moreover, the expression patterns of those target genes have been analyzed in human EPCs from HSCR patients in comparison with controls. Additionally, we have carried out a search of rare variants in those genes in a HSCR series. Through this approach we found 9 genes showing a significantly different expression level in both groups. Therefore, those genes may have a role in the proper human ENS formation and a failure in their expression pattern might contribute to this pathology.Leticia Villalba-BenitoAna TorroglosaRaquel María FernándezMacarena Ruíz-FerrerMaría José Moya-JiménezGuillermo AntiñoloSalud BorregoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Leticia Villalba-Benito Ana Torroglosa Raquel María Fernández Macarena Ruíz-Ferrer María José Moya-Jiménez Guillermo Antiñolo Salud Borrego Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease
description	Abstract Hirschsprung disease (HSCR) is attributed to a failure of neural crest cells (NCCs) to migrate, proliferate, differentiate and/or survive in the bowel wall during embryonic Enteric Nervous System (ENS) development. ENS formation is the result from a specific gene expression pattern regulated by epigenetic events, such DNA methylation by the DNA methyltransferases (DNMTs), among other mechanisms. Specifically, DNMT3b de novo methyltransferase is associated with NCCs development and has been shown to be implicated in ENS formation and in HSCR. Aiming to elucidate the specific mechanism underlying the DNMT3b role in such processes, we have performed a chromatin immunoprecipitation coupled with massively parallel sequencing analysis to identify the DNMT3B target genes in enteric precursor cells (EPCs) from mice. Moreover, the expression patterns of those target genes have been analyzed in human EPCs from HSCR patients in comparison with controls. Additionally, we have carried out a search of rare variants in those genes in a HSCR series. Through this approach we found 9 genes showing a significantly different expression level in both groups. Therefore, those genes may have a role in the proper human ENS formation and a failure in their expression pattern might contribute to this pathology.
format	article
author	Leticia Villalba-Benito Ana Torroglosa Raquel María Fernández Macarena Ruíz-Ferrer María José Moya-Jiménez Guillermo Antiñolo Salud Borrego
author_facet	Leticia Villalba-Benito Ana Torroglosa Raquel María Fernández Macarena Ruíz-Ferrer María José Moya-Jiménez Guillermo Antiñolo Salud Borrego
author_sort	Leticia Villalba-Benito
title	Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease
title_short	Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease
title_full	Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease
title_fullStr	Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease
title_full_unstemmed	Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease
title_sort	overexpression of dnmt3b target genes during enteric nervous system development contribute to the onset of hirschsprung disease
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/793aabe852e5456db9fa289db4eacdb4
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Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

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