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Title: Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease.
Authors: Enguix-Riego, María Valle
Torroglosa, Ana
Fernández, Raquel María
Moya-Jiménez, María José
de Agustín, Juan Carlos
Antiñolo, Guillermo
Borrego, Salud
metadata.dc.subject.mesh: Alleles
Case-Control Studies
Child, Preschool
DNA (Cytosine-5-)-Methyltransferases
E1A-Associated p300 Protein
Enteric Nervous System
Gene Expression Regulation
Genetic Predisposition to Disease
Genetic Variation
Hirschsprung Disease
Microsatellite Repeats
Neural Stem Cells
PAX6 Transcription Factor
Promoter Regions, Genetic
Protein Binding
Transcription Factors
Issue Date: 16-Feb-2016
Abstract: Hirschsprung disease (HSCR) is attributed to a failure of neural crest derived cells to migrate, proliferate, differentiate or survive in the bowel wall during embryonic Enteric Nervous System (ENS) development. This process requires a wide and complex variety of molecules and signaling pathways which are activated by transcription factors. In an effort to better understand the etiology of HSCR, we have designed a study to identify new transcription factors participating in different stages of the colonization process. A differential expression study has been performed on a set of transcription factors using Neurosphere-like bodies from both HSCR and control patients. Differential expression levels were found for CDYL, MEIS1, STAT3 and PAX6. A significantly lower expression level for PAX6 in HSCR patients, would suit with the finding of an over-representation of the larger tandem (AC)m(AG)n repeats within the PAX6 promoter in HSCR patients, with the subsequent loss of protein P300 binding. Alternatively, PAX6 is a target for DNMT3B-dependant methylation, a process already proposed as a mechanism with a role in HSCR. Such decrease in PAX6 expression may influence in the proper function of signaling pathways involved in ENS with the confluence of additional genetic factors to the manifestation of HSCR phenotype.
metadata.dc.identifier.doi: 10.1038/srep21160
Appears in Collections:Producción 2020

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