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 shortened the core promoter sequence of the GABRB3 gene 5' regulation region from -177 bp to -18 bp (ATG+1). We also found an expression suppression region from -1,735 bp to -1,638 bp and an enhanced regulatory region from -1,638 bp to -1,335 bp. Multiple inhibitory functional elements were identified in the region from -680 bp to -177 bp. CONCLUSION:We demonstrated that haplotype C-A might increase the risk of schizophrenia and found multiple regulatory regions that had an effect on GABRB3 receptor expression.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Liu Y,Ding M,Liu YP,Zhang XC,Xing JX,Xuan JF,Xia X,Yao J,Wang BJdoi
10.1002/mgg3.652subject
Has Abstractpub_date
2019-05-01 00:00:00pages
e652issue
5issn
2324-9269journal_volume
7pub_type
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