Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition

Transcript dosage imbalance may influence the transcriptome. To gain insight into the role of altered gene expression in hereditary colorectal polyposis predisposition, in the present study we analyzed absolute and allele-specific expression (ASE) of adenomatous polyposis coli (APC) and mutY Homolog...

Full description

Saved in:
Bibliographic Details
Published in:Journal of experimental & clinical cancer research 2015-10, Vol.34 (1), p.131-131, Article 131
Main Authors: Aceto, Gitana Maria, Fantini, Fabiana, De Iure, Sabrina, Di Nicola, Marta, Palka, Giandomenico, Valanzano, Rosa, Di Gregorio, Patrizia, Stigliano, Vittoria, Genuardi, Maurizio, Battista, Pasquale, Cama, Alessandro, Curia, Maria Cristina
Format: Article
Language:English
Subjects:
Adenomatous Polyposis Coli - diagnosis
Adenomatous Polyposis Coli - genetics
Adenomatous Polyposis Coli Protein - genetics
Adult
Aged
Alleles
Analysis
Blood donors
Care and treatment
Case-Control Studies
Colon cancer
Diagnosis
DNA Glycosylases - genetics
DNA Mutational Analysis
Gene expression
Gene Expression Regulation
Gene mutations
Genes
Genetic aspects
Genetic Predisposition to Disease
Genetic research
Germ-Line Mutation
Humans
Medical research
Medicine, Experimental
Messenger RNA
Middle Aged
Mutation
Patient outcomes
Phenotype
RNA, Messenger
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Transcript dosage imbalance may influence the transcriptome. To gain insight into the role of altered gene expression in hereditary colorectal polyposis predisposition, in the present study we analyzed absolute and allele-specific expression (ASE) of adenomatous polyposis coli (APC) and mutY Homolog (MUTYH) genes. We analyzed DNA and RNA extracted from peripheral blood mononuclear cells (PBMC) of 49 familial polyposis patients and 42 healthy blood donors selected according similar gender and age. Patients were studied for germline alterations in both genes using dHPLC, MLPA and automated sequencing. APC and MUTYH mRNA expression levels were investigated by quantitative Real-Time PCR (qRT-PCR) analysis using TaqMan assay and by ASE assays using dHPLC-based primer extension. Twenty out of 49 patients showed germline mutations: 14 in APC gene and six in MUTYH gene. Twenty-nine patients did not show mutations in both genes. Results from qRT-PCR indicated that gene expression of both APC and MUTYH was reduced in patients analyzed. In particular, a significant reduction in APC expression was observed in patients without APC germline mutation vs control group (P 
ISSN:1756-9966
0392-9078
1756-9966
DOI:10.1186/s13046-015-0244-4