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MLH1-93 启动子变异影响基因表达。

The MLH1 -93 promoter variant influences gene expression.

机构信息

Department of Feed Science, Hubei Key Laboratory of Animal Nutrition and Feed Science, Wuhan Polytechnical University, Wuhan, Hubei, China.

出版信息

Cancer Epidemiol. 2010 Feb;34(1):93-5. doi: 10.1016/j.canep.2009.12.009. Epub 2010 Jan 8.

DOI:10.1016/j.canep.2009.12.009
PMID:20060799
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.

摘要

MLH1 基因的-93 SNP 与子宫内膜癌和结直肠癌中的 MLH1 基因甲基化有关。我们进行了荧光素酶报告基因检测和电泳迁移率变动分析(EMSA),以检测-93 SNP 是否影响 MLH1 基因的表达。-93A 质粒的荧光素酶活性明显低于-93G 质粒。在 EMSA 实验中,-93A 和-93G 探针与 JEG3 细胞的核蛋白具有不同的结合亲和力。我们的数据表明,-93 SNP 通过改变与 MLH1 基因启动子结合的蛋白来影响 MLH1 基因的表达。

相似文献

1
The MLH1 -93 promoter variant influences gene expression.MLH1-93 启动子变异影响基因表达。
Cancer Epidemiol. 2010 Feb;34(1):93-5. doi: 10.1016/j.canep.2009.12.009. Epub 2010 Jan 8.
2
Haplotype defined by the MLH1-93G/A polymorphism is associated with MLH1 promoter hypermethylation in sporadic colorectal cancers.由MLH1 - 93G/A多态性定义的单倍型与散发性结直肠癌中的MLH1启动子高甲基化相关。
BMC Res Notes. 2014 Nov 24;7:835. doi: 10.1186/1756-0500-7-835.
3
Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity.MLH1-93G>A 多态性对 MLH1/EPM2AIP1 启动子活性的功能影响。
Oncol Rep. 2011 Mar;25(3):809-15. doi: 10.3892/or.2010.1129. Epub 2010 Dec 30.
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Evidence for heritable predisposition to epigenetic silencing of MLH1.MLH1基因表观遗传沉默存在遗传易感性的证据。
Int J Cancer. 2007 Apr 15;120(8):1684-8. doi: 10.1002/ijc.22406.
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MSI in endometrial carcinoma: absence of MLH1 promoter methylation is associated with increased familial risk for cancers.子宫内膜癌中的微卫星不稳定性:MLH1启动子甲基化缺失与癌症家族风险增加相关。
Int J Cancer. 2002 Jun 10;99(5):697-704. doi: 10.1002/ijc.10429.
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Assessment of MLH1 promoter methylation in relation to gene expression requires specific analysis.评估MLH1启动子甲基化与基因表达的关系需要进行特定分析。
Oncogene. 2007 Nov 29;26(54):7596-600. doi: 10.1038/sj.onc.1210581. Epub 2007 Jun 4.
7
Re: MLH1 93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.关于:MLH1基因93G>A启动子多态性与微卫星不稳定型结直肠癌风险
J Natl Cancer Inst. 2007 Oct 3;99(19):1490; author reply 1490-1. doi: 10.1093/jnci/djm137. Epub 2007 Sep 25.
8
MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.MLH1基因-93G>A启动子多态性与微卫星不稳定型结直肠癌风险
J Natl Cancer Inst. 2007 Mar 21;99(6):463-74. doi: 10.1093/jnci/djk095.
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MLH1 -93G>A promoter polymorphism and risk of mismatch repair deficient colorectal cancer.MLH1基因启动子-93G>A多态性与错配修复缺陷型结直肠癌风险
Int J Cancer. 2008 Nov 15;123(10):2456-9. doi: 10.1002/ijc.23770.
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Methylation in hMLH1 promoter interferes with its binding to transcription factor CBF and inhibits gene expression.hMLH1启动子中的甲基化会干扰其与转录因子CBF的结合,并抑制基因表达。
Oncogene. 2001 Oct 25;20(48):7120-7. doi: 10.1038/sj.onc.1204891.

引用本文的文献

1
Polymorphisms of Mismatch Repair Pathway Genes Predict Clinical Outcomes in Oral Squamous Cell Carcinoma Patients Receiving Adjuvant Concurrent Chemoradiotherapy.错配修复通路基因多态性可预测接受辅助同步放化疗的口腔鳞状细胞癌患者的临床结局。
Cancers (Basel). 2019 Apr 29;11(5):598. doi: 10.3390/cancers11050598.
2
Haplotype defined by the MLH1-93G/A polymorphism is associated with MLH1 promoter hypermethylation in sporadic colorectal cancers.由MLH1 - 93G/A多态性定义的单倍型与散发性结直肠癌中的MLH1启动子高甲基化相关。
BMC Res Notes. 2014 Nov 24;7:835. doi: 10.1186/1756-0500-7-835.
3
Effect of MLH1 -93G>A on gene expression in patients with colorectal cancer.
MLH1 -93G>A对结直肠癌患者基因表达的影响。
Med Oncol. 2014 Sep;31(9):160. doi: 10.1007/s12032-014-0160-z. Epub 2014 Aug 13.
4
The prognostic significance of polymorphisms in hMLH1/hMSH2 for colorectal cancer.hMLH1/hMSH2基因多态性对结直肠癌的预后意义。
Med Oncol. 2014 Jun;31(6):975. doi: 10.1007/s12032-014-0975-7. Epub 2014 May 4.
5
Comparing methods for mapping cis acting polymorphisms using allelic expression ratios.比较使用等位基因表达比映射顺式作用多态性的方法。
PLoS One. 2011;6(12):e28636. doi: 10.1371/journal.pone.0028636. Epub 2011 Dec 13.
6
Spreading of Alu methylation to the promoter of the MLH1 gene in gastrointestinal cancer.胃肠道癌中 Alu 甲基化向 MLH1 基因启动子的扩散。
PLoS One. 2011;6(10):e25913. doi: 10.1371/journal.pone.0025913. Epub 2011 Oct 12.
7
Phosphatase and tensin homolog (PTEN) pseudogene expression in endometrial cancer: a conserved regulatory mechanism important in tumorigenesis?磷酸酶和张力蛋白同源物(PTEN)假基因在子宫内膜癌中的表达:一种在肿瘤发生中起重要作用的保守调控机制?
Gynecol Oncol. 2012 Feb;124(2):340-6. doi: 10.1016/j.ygyno.2011.10.011. Epub 2011 Oct 15.