Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease

Scientific Reports
María Valle Enguix-RiegoSalud Borrego

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 ...Continue Reading

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Citations

Jul 30, 2019·Clinical Genetics·Berta Luzón-ToroSalud Borrego
Aug 7, 2019·Birth Defects Research·Ratnam S SeelanRobert M Greene
Dec 4, 2019·Clinical and Translational Gastroenterology·Yu-Rong LiuShu-Cheng Zhang

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Methods Mentioned

BETA
PCR
ChIP-PCR
ChIP
Low
genotyping
Immunoprecipitation Assay
Assay
electrophoresis

Software Mentioned

Statistical Package for Social Sciences ( SPSS )
Genemapper
Gene
RQ Manager
TFSEARCH
Mania
Elect
SeqScape
Var
PROMO

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