title: The MLH1 -93 promoter variant influences gene expression.
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.
authors.affiliation: Department of Feed Science, Hubei Key Laboratory of Animal Nutrition and Feed Science, Wuhan Polytechnical University, Wuhan, Hubei, China.
authors.forename: Manxue
authors.initials: M
authors.lastname: Mei
authors.forename: Dong
authors.initials: D
authors.lastname: Liu
authors.forename: Shuo
authors.initials: S
authors.lastname: Dong
authors.forename: Sigurdur
authors.initials: S
authors.lastname: Ingvarsson
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Goodfellow
authors.forename: Huiping
authors.initials: H
authors.lastname: Chen
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D015179:Colorectal Neoplasms / Q000235:genetics; D019175:DNA Methylation; D004268:DNA-Binding Proteins / Q000378:metabolism; D016889:Endometrial Neoplasms / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D008156:Luciferases / Q000032:analysis / Q000235:genetics; D008297:Male; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D008156:Luciferases; D000070957:MutL Protein Homolog 1