Determination of allelic expression of SNP rs1880676 in choline acetyltransferase gene in HeLa cells.

ABSTRACT: Recently, we reported that several polymorphisms and haplotypes in the choline acetyltransferase gene (ChAT) are associated with nicotine dependence (ND). Of them, SNP rs1880676 is of particular interest because: (1) it is a non-synonymous variant located in the coding region of an alternatively spliced form of ChAT and (2) it is located in several haplotypes that are significantly associated with ND. The objective of this study was to determine, using an in vitro system, whether the alleles G (coding for aspartic acid) or A (coding for asparagine) of rs1880676 have any allele-specific effect on ChAT expression. We first used site-directed mutagenesis to construct two expression vectors differed in the allelic position of rs1880676 (G/A), which were transfected into HeLa cells. We then mea

SUBMITTER: Yang Z 

PROVIDER: S-EPMC3836665 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature