Dopamine D1 receptor (DRD1) 5' region haplotypes significantly affect transcriptional activity in vitro.
The role of dopamine D1 receptor (DRD1) gene promoter polymorphisms in schizophrenia remains controversial. We aimed to characterize the polymorphisms in the promoter region because little is known about the extent of variance in this region and potential roles in gene transcription activity. In a previous case-control study, we amplified and genotyped the polymorphisms of DRD1 gene. According to its haplotype estimation, we identified eight SNPs and confirmed ten different haplotypes by cloning and sequencing the fragment spanning -1990 to +10. The promoter activity of these haplotypes was analyzed using dual luciferase assays in SH-SY5Y and HEK293 cells. Compared with the reference haplotype, the constructed haplotypes containing different variation sites could significantly alter the luciferase activity. Additionally, the prediction of the transcription factor binding sites was performed. Our examination could provide the informative reference for the role of DRD1 gene promoter in schizophrenia.
School of Forensic Medicine, China Medical University, Shenyang 110001, PR China.
Jun
J
Yao
School of Forensic Medicine, China Medical University, Shenyang 110001, PR China.
Mei
M
Ding
School of Forensic Medicine, China Medical University, Shenyang 110001, PR China.
Hao
H
Pang
School of Forensic Medicine, China Medical University, Shenyang 110001, PR China.
Jia-Xin
JX
Xing
School of Forensic Medicine, China Medical University, Shenyang 110001, PR China.
Jin-Feng
JF
Xuan
School of Forensic Medicine, China Medical University, Shenyang 110001, PR China. Electronic address: wangbj77@163.com.
Bao-Jie
BJ
Wang
D001483:Base Sequence; D001665:Binding Sites; D016022:Case-Control Studies; D002460:Cell Line; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D017447:Receptors, Dopamine D1 / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics; D014158:Transcription, Genetic
D017447:Receptors, Dopamine D1
DRD1; Gene polymorphism; Promoter; Schizophrenia; Transcriptional activity