Functional assays to determine the significance of two common XPC 3'UTR variants found in bladder cancer patients.

ABSTRACT:

Background

XPC is involved in the nucleotide excision repair of DNA damaged by carcinogens known to cause bladder cancer. Individuals homozygous for the variant allele of XPC c.1496C > T (p.Ala499Val) were shown in a large pooled analysis to have an increased bladder cancer risk, and we found two 3'UTR variants, *611T > A and c.*618A > G, to be in strong linkage disequilibrium with c.1496T. Here we determined if these two 3'UTR variants can affect mRNA stability and assessed the impact of all three variants on mRNA and protein expression.

Methods

In vitro mRNA stability assays were performed and mRNA and protein expression measured both in plasmid-based assays and in lymphocytes and lymphoblastoid cell lines from bladder and breast cancer patients.

Results

The two 3'U

SUBMITTER: Qiao B 

PROVIDER: S-EPMC3142493 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature