Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus.

ABSTRACT:

Objective

CES1 encodes carboxylesterase-1, an important drug-metabolizing enzyme with high expression in the liver. Previous studies have reported a genomic translocation of the 5' region from the poorly expressed pseudogene CES1P1, to CES1, yielding the structural variant CES1VAR. The aim of this study was to characterize this translocation and its effect on CES1 expression in the human liver.

Materials and methods

Experiments were conducted in human liver tissues and cell culture (HepG2). The promoter and exon 1 of CES1 were sequenced by Sanger and Ion Torrent sequencing to identify gene translocations. The effects of CES1 5'UTRs on mRNA and protein expression were assessed by quantitative real-time PCR, allelic ratio mRNA analysis by primer extension (SNaPshot), quantitat

SUBMITTER: Sanford JC 

PROVIDER: S-EPMC4821783 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature