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Article

Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers

  • Authors:
    • Ming Zhu
    • Hui‑Mei Chen
    • Ya‑Ping Wang
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    Affiliations: Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing 210093, P.R. China
  • Pages: 1710-1718
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    Published online on: March 11, 2013
       https://doi.org/10.3892/ol.2013.1243
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Abstract

The MLH1 and MSH2 genes in DNA mismatch repair are important in the pathogenesis of gastrointestinal cancer. Recent studies of normal and alternative splicing suggest that the deleterious effects of missense mutations may in fact be splicing‑related when they are located in exonic splicing enhancers (ESEs) or exonic splicing silencers (ESSs). In this study, we used ESE‑finder and FAS‑ESS software to analyze the potential ESE/ESS motifs of the 114 missense mutations detected in the two genes in East Asian gastrointestinal cancer patients. In addition, we used the SIFT tool to functionally analyze these mutations. The amount of the ESE losses (68) was 51.1% higher than the ESE gains (45) of all the mutations. However, the amount of the ESS gains (27) was 107.7% higher than the ESS losses (13). In total, 56 (49.1%) mutations possessed a potential exonic splicing regulator (ESR) error. Eighty‑one mutations (71.1%) were predicted to be deleterious with a lower tolerance index as detected by the Sorting Intolerant from Tolerant (SIFT) tool. Among these, 38 (33.3%) mutations were predicted to be functionally deleterious and possess one potential ESR error, while 18 (15.8%) mutations were predicted to be functionally deleterious and exhibit two potential ESR errors. These may be more likely to affect exon splicing. Our results indicated that there is a strong correlation between missense mutations in MLH1 and MSH2 genes detected in East Asian gastrointestinal cancer patients and ESR motifs. In order to correctly understand the molecular nature of mutations, splicing patterns should be compared between wild‑type and mutant samples.
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1 

Peltomäki P and Vasen HF: Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on hereditary nonpolyposis colorectal cancer. Gastroenterology. 113:1146–1158. 1997.

2 

Lynch HT and de la Chapelle A: Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet. 36:801–818. 1999.PubMed/NCBI

3 

Cartegni L, Chew SL and Krainer AR: Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 3:285–298. 2002. View Article : Google Scholar : PubMed/NCBI

4 

Pagani F and Baralle FE: Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet. 5:389–396. 2004. View Article : Google Scholar : PubMed/NCBI

5 

Shapiro MB and Senapathy P: RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:7155–7174. 1987. View Article : Google Scholar : PubMed/NCBI

6 

Jurica MS and Moore MJ: Pre-mRNA splicing: awash in a sea of proteins. Mol Cell. 12:5–14. 2003. View Article : Google Scholar : PubMed/NCBI

7 

Liu HX, Zhang M and Krainer AR: Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins. Genes Dev. 12:1998–2012. 1998. View Article : Google Scholar : PubMed/NCBI

8 

Blencowe BJ: Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci. 25:106–110. 2000. View Article : Google Scholar : PubMed/NCBI

9 

Hastings ML and Krainer AR: Pre-mRNA splicing in the new millennium. Curr Opin Cell Biol. 13:302–309. 2001. View Article : Google Scholar : PubMed/NCBI

10 

Zuo P and Maniatis T: The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing. Genes Dev. 10:1356–1368. 1996. View Article : Google Scholar : PubMed/NCBI

11 

Kan JL and Green MR: Pre-mRNA splicing of IgM exons M1 and M2 isdirected by a juxtaposed splicing enhancer and inhibitor. Genes Dev. 13:462–471. 1999. View Article : Google Scholar : PubMed/NCBI

12 

Cartegni L, Wang J, Zhu Z, Zhang MQ and Krainer AR: ESE finder: a web resource to identify exonic splicing enhancers. Nucleic Acid Research. 31:3568–3571. 2003.PubMed/NCBI

13 

Smith PJ, Zhang C, Wang J, Chew SL, Zhang MQ and Krainer AR: An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet. 15:2490–2508. 2006. View Article : Google Scholar : PubMed/NCBI

14 

Wang Z, Rolish ME, Yeo G, Tung V, Mawson M and Burge CB: Systematic identification and analysis of exonic splicing silencers. Cell. 119:831–845. 2004. View Article : Google Scholar : PubMed/NCBI

15 

Cai Q, Sun MH, Fu G, et al: Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families. Zhonghua Bing Li Xue Za Zhi. 32:323–328. 2003.(In Chinese).

16 

Wang XL, Yuan Y, Zhang SZ, Cai SR, Huang YQ, Jiang Q and Zheng S: Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families. World J Gastroenterol. 12:4074–4077. 2006.PubMed/NCBI

17 

Nomura S, Sugano K, Kashiwabara H, et al: Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. Biochem Biophys Res Commun. 271:120–129. 2000. View Article : Google Scholar : PubMed/NCBI

18 

Kim JC, Kim HC, Roh SA, et al: hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer. Cancer Detect Prev. 25:503–510. 2001.PubMed/NCBI

19 

Nakahara M, Yokozaki H, Yasui W, Dohi K and Tahara E: Identification of concurrent germline mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. Cancer Epidemiol Biomarkers Prev. 6:1057–1064. 1997.PubMed/NCBI

20 

Park SJ, Lee KA, Park TS, Kim NK, Song J, Kim BY and Choi JR: A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. Cancer Genet Cytogenet. 182:136–139. 2008. View Article : Google Scholar : PubMed/NCBI

21 

Fan Y, Liu X, Zhang H, et al: Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population. Cancer Genet Cytogenet. 170:121–128. 2006. View Article : Google Scholar : PubMed/NCBI

22 

Yan HL, Hao LQ, Jin HY, et al: Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non-polyposis colorectal cancer: a cost-effective screening strategy proposal. Cancer Sci. 99:770–780. 2008. View Article : Google Scholar

23 

Leung SY, Chan TL, Chung LP, et al: Microsatellite instability and mutation of DNA mismatch repair genes in gliomas. Am J Pathol. 153:1181–1188. 1998. View Article : Google Scholar : PubMed/NCBI

24 

Wu MS, Lee CW, Shun CT, et al: Distinct clinicopathologic and genetic profiles in sporadic gastric cancer with different mutator phenotypes. Genes Chromosomes Cancer. 27:403–411. 2000. View Article : Google Scholar : PubMed/NCBI

25 

Kim YM, Choe CG, Cho SK, Jung IH, Chang WY and Cho M: Three novel germline mutations in MLH1 and MSH2 in families with Lynch syndrome living on Jeju island, Korea. BMB Rep. 43:693–697. 2010. View Article : Google Scholar : PubMed/NCBI

26 

Zhao C, Tang WZ, Gao F and Li W: Study on hMSH2 gene mutation in the carcinogenesis of sporadic colorectal carcinoma. Journal of Guangxi Medical University. 27:11–14. 2010.

27 

Tang R, Hsiung C, Wang JY, et al: Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. Clin Genet. 75:334–345. 2009. View Article : Google Scholar : PubMed/NCBI

28 

Jin HY, Liu X, Li VK, et al: Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer. BMC Cancer. 8:442008. View Article : Google Scholar : PubMed/NCBI

29 

Han HJ, Yuan Y, Ku JL, et al: Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. J Natl Cancer Inst. 88:1317–1319. 1996. View Article : Google Scholar : PubMed/NCBI

30 

Sheng JQ, Fu L, Sun ZQ, et al: Mismatch repair gene mutations in Chinese HNPCC patients. Cytogenet Genome Res. 122:22–27. 2008. View Article : Google Scholar : PubMed/NCBI

31 

Cui L, Jin HY, Cheng HY, Yan YD, Meng RG and Yu DH: Genetic detection of Chinese hereditary nonpolyposis colorectal cancer. World J Gastroenterol. 10:209–213. 2004.PubMed/NCBI

32 

Furukawa T, Konishi F, Shitoh K, Kojima M, Nagai H and Tsukamoto T: Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma. Cancer. 94:911–920. 2002. View Article : Google Scholar : PubMed/NCBI

33 

Yuen ST, Chan TL, Ho JW, et al: Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. Oncogene. 21:7585–7592. 2002. View Article : Google Scholar : PubMed/NCBI

34 

Zhang CH, He YL, Wang FJ, et al: Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds. World J Gastroenterol. 14:298–302. 2008. View Article : Google Scholar : PubMed/NCBI

35 

Zhang Y, Liu X, Fan Y, et al: Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China. Int J Cancer. 119:2592–2596. 2006. View Article : Google Scholar : PubMed/NCBI

36 

Yuan Y, Han HJ, Zheng S and Park JG: Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. Dis Colon Rectum. 41:434–440. 1998. View Article : Google Scholar : PubMed/NCBI

37 

Yoon SN, Ku JL, Shin YK, et al: Hereditary nonpolyposis colorectal cancer in endometrial cancer patients. Int J Cancer. 122:1077–1081. 2008. View Article : Google Scholar : PubMed/NCBI

38 

Sinn DH, Chang DK, Kim YH, et al: Effectiveness of each Bethesda marker in defining microsatellite instability when screening for Lynch syndrome. Hepatogastroenterology. 56:672–676. 2009.PubMed/NCBI

39 

Shin YK, Heo SC, Shin JH, et al: Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. Hum Mutat. 24:3512004. View Article : Google Scholar : PubMed/NCBI

40 

Zhang XM, Li JT, Zhu M, Wu XL, Gao P, Zhou P and Wang YP: Study on the relationship between genetic polymorphism Val384Asp in hMLH1 gene and the risk of four different carcinomas. Zhonghua Liu Xing Bing Xue Za Zhi. 25:978–981. 2004.(In Chinese).

41 

Han HJ, Maruyama M, Baba S, Park JG and Nakamura Y: Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC). Hum Mol Genet. 4:237–242. 1995. View Article : Google Scholar

42 

Wang CF, Zhou XY, Sun MH, et al: Two novel germline mutations of MLH1 in hereditary nonpolyposis colorectal cancer family. Zhonghua Bing Li Xue Za Zhi. 35:68–72. 2006.(In Chinese).

43 

Sheng JQ, Chan TL, Chan YW, et al: Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. Chin J Dig Dis. 7:197–205. 2006. View Article : Google Scholar : PubMed/NCBI

44 

Wei W, Liu F, Liu L, et al: Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China. BMB Rep. 44:317–322. 2011. View Article : Google Scholar : PubMed/NCBI

45 

Ng PC and Henikoff S: Predicting deleterious amino acid substitutions. Genome Res. 11:863–874. 2001. View Article : Google Scholar : PubMed/NCBI

46 

Kumar P, Henikoff S and Ng PC: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 4:1073–1082. 2009. View Article : Google Scholar : PubMed/NCBI

47 

Liu HX, Cartegni L, Zhang MQ and Krainer AR: A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet. 27:55–58. 2001. View Article : Google Scholar : PubMed/NCBI

48 

Fackenthal JD, Cartegni L, Krainer AR and Olopade OI: BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet. 71:625–631. 2002. View Article : Google Scholar : PubMed/NCBI

49 

Gorlov IP, Gorlova OY, Frazier ML and Amos CI: Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers. Am J Hum Genet. 73:1157–1161. 2003. View Article : Google Scholar : PubMed/NCBI

50 

Gorlov IP, Gorlova OY, Frazier ML and Amos CI: Missense mutations in cancer suppressor gene TP53 are colocalized with exonic splicing enhancers (ESEs). Mutat Res. 554:175–183. 2004. View Article : Google Scholar : PubMed/NCBI

51 

Nielsen KB, Sørensen S, Cartegni L, et al: Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet. 80:416–432. 2007. View Article : Google Scholar

52 

Cartegni L and Krainer AR: Disruption of an SF2/ASF dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet. 30:377–384. 2002. View Article : Google Scholar : PubMed/NCBI

53 

Auclair J, Busine MP, Navarro C, et al: Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. Hum Mutat. 27:145–154. 2006. View Article : Google Scholar : PubMed/NCBI

54 

Pagenstecher C, Wehner M, Friedl W, et al: Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet. 119:9–22. 2006. View Article : Google Scholar : PubMed/NCBI

55 

Oliveira J, Soares-Silva I, Fokkema I, et al: Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. J Hum Genet. 53:565–572. 2008. View Article : Google Scholar : PubMed/NCBI

56 

Raponi M, Kralovicova J, Copson E, et al: Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6. Hum Mutat. 32:436–444. 2011. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Zhu M, Chen HM and Wang YP: Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. Oncol Lett 5: 1710-1718, 2013.
APA
Zhu, M., Chen, H., & Wang, Y. (2013). Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. Oncology Letters, 5, 1710-1718. https://doi.org/10.3892/ol.2013.1243
MLA
Zhu, M., Chen, H., Wang, Y."Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers". Oncology Letters 5.5 (2013): 1710-1718.
Chicago
Zhu, M., Chen, H., Wang, Y."Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers". Oncology Letters 5, no. 5 (2013): 1710-1718. https://doi.org/10.3892/ol.2013.1243
Copy and paste a formatted citation
x
Spandidos Publications style
Zhu M, Chen HM and Wang YP: Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. Oncol Lett 5: 1710-1718, 2013.
APA
Zhu, M., Chen, H., & Wang, Y. (2013). Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. Oncology Letters, 5, 1710-1718. https://doi.org/10.3892/ol.2013.1243
MLA
Zhu, M., Chen, H., Wang, Y."Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers". Oncology Letters 5.5 (2013): 1710-1718.
Chicago
Zhu, M., Chen, H., Wang, Y."Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers". Oncology Letters 5, no. 5 (2013): 1710-1718. https://doi.org/10.3892/ol.2013.1243
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