The MLH1 −93 promoter variant influences gene expression

• Published in: Cancer epidemiology Vol. 34; no. 1; pp. 93 - 95
• Main Authors: Mei, Manxue, Liu, Dong, Dong, Shuo, Ingvarsson, Sigurdur, Goodfellow, Paul J, Chen, Huiping
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 01-02-2010; Elsevier Limited
• Subjects: 93 SNP; Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Cancer; Cell culture; Cloning; Colorectal Neoplasms - genetics; Deoxyribonucleic acid; DNA; DNA Methylation; DNA-Binding Proteins - metabolism; Endometrial Neoplasms - genetics; Epidemiology; Epigenetics; Experiments; Female; Gene expression; Gene Expression Regulation; Hematology, Oncology and Palliative Medicine; Humans; Internal Medicine; Luciferases - analysis; Luciferases - genetics; Male; MLH1; MutL Protein Homolog 1; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Plasmids; Polymorphism, Single Nucleotide; Promoter methylation; Promoter Regions, Genetic; Proteins; RNA polymerase; Promoter methylation; MLH1; Gene expression; 93 SNP
• ISSN: 1877-7821; 1877-783X
• DOI: 10.1016/j.canep.2009.12.009

Abstract The −93 SNP of MLH1 gene is associated with MLH1 gene methylation in endometrial and colorectal cancers. We undertook luciferase reporter assay and electrophoretic mobility shift assay (EMSA) to test whether the −93 SNP affects the MLH1 gene expression. The luciferase activity for −93A plasmid is significantly lower than −93G plasmid. In EMSA experiments, the −93A and −93G probes have different binding affinity to nuclear proteins of JEG3 cells. Our data indicate that −93 SNP affects MLH1 gene expression by altering protein binding to the promoter of MLH1 gene.