Table of Contents Author Guidelines Submit a Manuscript
Oxidative Medicine and Cellular Longevity
Volume 2014, Article ID 617351, 12 pages
http://dx.doi.org/10.1155/2014/617351
Research Article

Impaired 8-Hydroxyguanine Repair Activity of MUTYH Variant p.Arg109Trp Found in a Japanese Patient with Early-Onset Colorectal Cancer

1Department of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi Ward, Hamamatsu, Shizuoka 431-3192, Japan
2Division of Cancer Development System, National Cancer Center Research Institute, Tokyo 104-0045, Japan
3Research Center for Environmental Quality Management, Kyoto University, Shiga 520-0811, Japan
4Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan

Received 29 November 2013; Revised 5 February 2014; Accepted 11 February 2014; Published 23 March 2014

Academic Editor: Antonio Ayala

Copyright © 2014 Kazuya Shinmura et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. H. Kasai and S. Nishimura, “Hydroxylation of deoxyguanosine at the C-8 position by ascorbic acid and other reducing agents,” Nucleic Acids Research, vol. 12, no. 4, pp. 2137–2145, 1984. View at Publisher · View at Google Scholar · View at Scopus
  2. S. Shibutani, M. Takeshita, and A. P. Grollman, “Insertion of specific bases during DNA synthesis past the oxidation-damaged base 8-oxodG,” Nature, vol. 349, no. 6308, pp. 431–434, 1991. View at Publisher · View at Google Scholar · View at Scopus
  3. M. M. Slupska, W. M. Luther, J.-H. Chiang, H. Yang, and J. H. Miller, “Functional expression of hMYH, a human homolog of the Escherichia coli MutY protein,” Journal of Bacteriology, vol. 181, no. 19, pp. 6210–6213, 1999. View at Google Scholar · View at Scopus
  4. M. Takao, Q.-M. Zhang, S. Yonei, and A. Yasui, “Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8-oxoguanine DNA glycosylase,” Nucleic Acids Research, vol. 27, no. 18, pp. 3638–3644, 1999. View at Publisher · View at Google Scholar · View at Scopus
  5. K. Shinmura, S. Yamaguchi, T. Saitoh et al., “Adenine excisional repair function of MYH protein on the adenine:8-hydroxyguanine base pair in double-stranded DNA,” Nucleic Acids Research, vol. 28, no. 24, pp. 4912–4918, 2000. View at Google Scholar · View at Scopus
  6. T. Ohtsubo, K. Nishioka, Y. Imaiso et al., “Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria,” Nucleic Acids Research, vol. 28, no. 6, pp. 1355–1364, 2000. View at Google Scholar · View at Scopus
  7. S. S. David, V. L. O'Shea, and S. Kundu, “Base-excision repair of oxidative DNA damage,” Nature, vol. 447, no. 7147, pp. 941–950, 2007. View at Publisher · View at Google Scholar · View at Scopus
  8. Z. Cai, H. Chen, J. Tao et al., “Association of base excision repair gene polymorphisms with ESRD risk in a Chinese population,” Oxidative Medicine and Cellular Longevity, vol. 2012, Article ID 928421, 10 pages, 2012. View at Publisher · View at Google Scholar
  9. N. Al-Tassan, N. H. Chmiel, J. Maynard et al., “Inherited variants of MYH associated with somatic G : C→T : A mutations in colorectal tumors,” Nature Genetics, vol. 30, no. 2, pp. 227–232, 2002. View at Publisher · View at Google Scholar · View at Scopus
  10. S. Jones, P. Emmerson, J. Maynard et al., “Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G : C→T : A mutations,” Human Molecular Genetics, vol. 11, no. 23, pp. 2961–2967, 2002. View at Google Scholar · View at Scopus
  11. O. M. Sieber, L. Lipton, M. Crabtree et al., “Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH,” New England Journal of Medicine, vol. 348, no. 9, pp. 791–799, 2003. View at Publisher · View at Google Scholar · View at Scopus
  12. M. Nielsen, H. Morreau, H. F. Vasen, and F. J. Hes, “MUTYH-associated polyposis (MAP),” Critical Reviews in Oncology/Hematology, vol. 79, no. 1, pp. 1–16, 2011. View at Publisher · View at Google Scholar · View at Scopus
  13. M. Miyaki, T. Iijima, T. Yamaguchi et al., “Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas,” Mutation Research—Fundamental and Molecular Mechanisms of Mutagenesis, vol. 578, no. 1-2, pp. 430–433, 2005. View at Publisher · View at Google Scholar · View at Scopus
  14. R. Yanaru-Fujisawa, T. Matsumoto, Y. Ushijima et al., “Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis,” Clinical Genetics, vol. 73, no. 6, pp. 545–553, 2008. View at Publisher · View at Google Scholar · View at Scopus
  15. T. Kuno, N. Matsubara, S. Tsuda et al., “Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer,” Oncology Reports, vol. 28, pp. 473–480, 2012. View at Google Scholar
  16. A. Bleyer, R. Barr, B. Hayes-Lattin et al., “The distinctive biology of cancer in adolescents and young adults,” Nature Reviews Cancer, vol. 8, no. 4, pp. 288–298, 2008. View at Publisher · View at Google Scholar · View at Scopus
  17. S. Kono, K. Toyomura, G. Yin, J. Nagano, and T. Mizoue, “A case-control study of colorectal cancer in relation to lifestyle factors and genetic polymorphisms: design and conduct of the fukuoka colorectal cancer study,” Asian Pacific Journal of Cancer Prevention, vol. 5, no. 4, pp. 393–400, 2004. View at Google Scholar · View at Scopus
  18. T. Hagiwara, S. Kono, G. Yin et al., “Genetic polymorphism in cytochrome P450 7A1 and risk of colorectal cancer: the Fukuoka colorectal cancer study,” Cancer Research, vol. 65, no. 7, pp. 2979–2982, 2005. View at Publisher · View at Google Scholar · View at Scopus
  19. H. Tao, K. Shinmura, M. Suzuki et al., “Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population,” Cancer Science, vol. 99, no. 2, pp. 355–360, 2008. View at Publisher · View at Google Scholar · View at Scopus
  20. H. Tao, K. Shinmura, T. Hanaoka et al., “A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus,” Carcinogenesis, vol. 25, no. 10, pp. 1859–1866, 2004. View at Publisher · View at Google Scholar · View at Scopus
  21. M. Goto, K. Shinmura, Y. Nakabeppu et al., “Adenine DNA glycosylase activity of 14 Human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer,” Human Mutation, vol. 31, no. 11, pp. E1861–E1874, 2010. View at Publisher · View at Google Scholar · View at Scopus
  22. K. Shinmura, M. Goto, H. Tao, S. Matsuura, T. Matsuda, and H. Sugimura, “Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis,” World Journal of Gastroenterology, vol. 18, no. 47, pp. 6935–6942, 2012. View at Publisher · View at Google Scholar
  23. K. Shinmura, M. Goto, M. Suzuki et al., “Reduced expression of MUTYH with suppressive activity against mutations caused by 8-hydroxyguanine is a novel predictor of a poor prognosis in human gastric cancer,” Journal of Pathology, vol. 225, no. 3, pp. 414–423, 2011. View at Publisher · View at Google Scholar · View at Scopus
  24. T. Matsuda, T. Yagi, M. Kawanishi, S. Matsui, and H. Takebe, “Molecular analysis of mutations induced by 2-chloroacetaldehyde, the ultimate carcinogenic form of vinyl chloride, in human cells using shuttle vectors,” Carcinogenesis, vol. 16, no. 10, pp. 2389–2394, 1995. View at Google Scholar · View at Scopus
  25. I. A. Adzhubei, S. Schmidt, L. Peshkin et al., “A method and server for predicting damaging missense mutations,” Nature Methods, vol. 7, no. 4, pp. 248–249, 2010. View at Publisher · View at Google Scholar · View at Scopus
  26. P. Kumar, S. Henikoff, and P. C. Ng, “Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm,” Nature Protocols, vol. 4, no. 7, pp. 1073–1081, 2009. View at Publisher · View at Google Scholar · View at Scopus
  27. Y. Choi, G. E. Sims, S. Murphy, J. R. Miller, and A. P. Chan, “Predicting the functional effect of amino acid substitutions and indels,” PLoS ONE, vol. 7, no. 10, Article ID e46688, 2012. View at Publisher · View at Google Scholar
  28. S. Vogt, N. Jones, D. Christian et al., “Expanded extracolonic tumor spectrum in MUTYH-associated polyposis,” Gastroenterology, vol. 137, no. 6, pp. 1976–1985, 2009. View at Publisher · View at Google Scholar · View at Scopus
  29. T. Ishida, R. Takashima, M. Fukayama et al., “New DNA polymorphisms of human MMH/OGG1 gene: prevalence of one polymorphism among lung-adenocarcinoma patients in Japanese,” International Journal of Cancer, vol. 80, pp. 18–21, 1999. View at Google Scholar
  30. Z. Xu, L. Yu, and X. Zhang, “Association between the hOGG1 Ser326Cys polymorphism and lung cancer susceptibility: a meta-analysis based on 22, 475 subjects,” Diagnostic Pathology, vol. 8, article 144, 2013. View at Publisher · View at Google Scholar
  31. S. Ding, X. Wu, G. Li, M. Han, Y. Zhuang, and T. Xu, “Efficient transposition of the piggyBac (PB) transposon in mammalian cells and mice,” Cell, vol. 122, no. 3, pp. 473–483, 2005. View at Publisher · View at Google Scholar · View at Scopus
  32. S. Aretz, M. Genuardi, and F. J. Hes, “Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP)—update 2012,” European Journal of Human Genetics, vol. 21, 2013. View at Publisher · View at Google Scholar · View at Scopus
  33. L. Lipton, S. E. Halford, V. Johnson et al., “Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway,” Cancer Research, vol. 63, no. 22, pp. 7595–7599, 2003. View at Google Scholar · View at Scopus
  34. H. Bai, S. Jones, X. Guan et al., “Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis,” Nucleic Acids Research, vol. 33, no. 2, pp. 597–604, 2005. View at Publisher · View at Google Scholar · View at Scopus
  35. V. G. D'Agostino, A. Minoprio, P. Torreri et al., “Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis,” DNA Repair, vol. 9, no. 6, pp. 700–707, 2010. View at Publisher · View at Google Scholar · View at Scopus
  36. Y. Bromberg and B. Rost, “SNAP: predict effect of non-synonymous polymorphisms on function,” Nucleic Acids Research, vol. 35, no. 11, pp. 3823–3835, 2007. View at Publisher · View at Google Scholar · View at Scopus
  37. K. Shinmura, M. Goto, H. Tao, and H. Sugimura, “Role of base excision repair enzyme MUTYH in the repair of 8-hydroxyguanine and MUTYH-associated polyposis (MAP),” Hereditary Genetics, vol. 1, article 111, 2012. View at Publisher · View at Google Scholar
  38. K. Shinmura, H. Tao, M. Goto et al., “Inactivating mutations of the human base excision repair gene NEIL1 in gastric cancer,” Carcinogenesis, vol. 25, no. 12, pp. 2311–2317, 2004. View at Publisher · View at Google Scholar · View at Scopus