Functional analysis of haplotypes and promoter activity at the 5' region of the human GABRB3 gene and associations with schizophrenia.

ABSTRACT:

Background

This study investigated the effects of haplotypes T-G and C-A derived from NG_012836.1:g.4160T>C and NG_012836.1:g.4326G>A on protein expression levels in vitro and identified the functional sequence in the regulatory region of the GABRB3 gene linked to possible associations with schizophrenia.

Methods

Recombinant plasmids with haplotypes T-G and C-A and 10 recombinant vectors containing deletion fragments from the GABRB3 gene 5' regulatory region were transfected into HEK-293, SK-N-SH, and SH-SY5Y cells. The relative fluorescence intensity of the two haplotypes and different sequences was compared using a dual luciferase reporter assay system.

Results

The relative fluorescence intensity of haplotype C-A was significantly lower than that of T-G. We shortene

SUBMITTER: Liu Y 

PROVIDER: S-EPMC6503024 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature