Differential allelic expression of c.1568C > A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3'UTR.

ABSTRACT: Differential allelic expression (DAE) is a powerful tool to identify cis-regulatory elements for gene expression. The UDP-glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), is an important enzyme involved in the metabolism of multiple endobiotics and xenobiotics. In the present study, we measured the relative expression of two alleles at SNP c.1568C>A (rs4148269) in this gene, which causes an amino acid substitution (T523K). An excess of the C over the A allele was consistently observed in both liver (P=0.0021) and breast (P=0.012) samples, suggesting that SNP(s) in strong linkage disequilibrium (LD) with c.1568C>A can regulate UGT2B15 expression in both tissues. By resequencing, one such SNP, c.1761T>C (rs3100) in 3' untranslated region (UTR), was identified. Reporter gene assay

SUBMITTER: Sun C 

PROVIDER: S-EPMC3105206 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature