Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.

ABSTRACT:

Objectives

Our aims were to identify and functionally characterize coding region nonsynonymous single nucleotide polymorphisms in the hepatic efflux transporter, bile salt export pump (BSEP; ABCB11), and to assess interindividual variability in BSEP expression.

Methods

We identified 24 single nucleotide polymorphisms, including nine nonsynonymous variants, in ABCB11 from genomic DNA of approximately 250 ethnically diverse healthy individuals using denaturing high-performance liquid chromatography analysis and DNA sequencing. Wild type and variant BSEP were generated and functionally characterized for taurocholate transport activity in vitro in HeLa cells using a recombinant vaccinia-based method. BSEP expression was assessed by real-time mRNA analysis, western blot analysis,

SUBMITTER: Ho RH 

PROVIDER: S-EPMC2883163 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature