Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

ABSTRACT:

Background & aims

The human mutyh gene encodes a base excision repair protein that prevents G:C to T:A transversions in DNA. Biallelic mutations in this gene are associated with recessively inherited familial colorectal cancer. The aim of this study was to characterize the functional activity of mutant-MUTYH and single-nucleotide polymorphism (SNP)-MUTYH proteins involving familial colorectal cancer.

Methods

MUTYH variants were cloned and assayed for their glycosylase and DNA binding activities using synthetic double-stranded oligonucleotide substrates by analyzing cleavage products by polyacrylamide gel electrophoresis.

Results

In this study, we have characterized 9 missense/frameshift mutants and 2 SNPs for their DNA binding and repair activity in vitro. Two missens

SUBMITTER: Ali M 

PROVIDER: S-EPMC2761659 | biostudies-literature | 2008 Aug

REPOSITORIES: biostudies-literature