Effect of SNPs in protein kinase C zeta gene on gene expression in the reporter gene detection system.
OBJECTIVE
To investigated the effects of the SNPs (rs411021, rs436045, rs427811, rs385039 and rs809912) on gene expression and further identify the susceptibility genes of type 2 diabetes.


METHODS
Ten allele fragments (49 bp each) were synthesized according to the 5 SNPs mentioned above. These fragments were cloned into luciferase reporter gene vector and then transfected into HepG2 cells. The activity of the luciferase was assayed. Effects of the SNPs on RNA splicing were analyzed by bioinformatics.


RESULTS
rs427811T allele and rs809912G allele enhanced the activity of the reporter gene expression. None of the 5 SNPs affected RNA splicing.


CONCLUSIONS
SNPs in protein kinase Cz (PKCZ) gene probably play a role in the susceptibility to type 2 diabetes by affecting the expression level of the relevant genes.
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China.
Zhuo
Z
Liu
Hong-Xia
HX
Sun
Yong-Wei
YW
Zhang
Yun-Feng
YF
Li
Jin
J
Zuo
Yan
Y
Meng
Fu-De
FD
Fang
D001483:Base Sequence; D017931:DNA Primers; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology / Q000235:genetics; D005091:Exons / Q000235:genetics; D015971:Gene Expression Regulation, Enzymologic / Q000235:genetics*; D017930:Genes, Reporter; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008156:Luciferases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011493:Protein Kinase C / Q000235:genetics*; D014158:Transcription, Genetic; D014162:Transfection; D000099221:Protein Kinase C zeta
D017931:DNA Primers; D008156:Luciferases; D011493:Protein Kinase C; D000099221:Protein Kinase C zeta