메뉴 건너뛰기




Volumn 73, Issue 6, 2008, Pages 545-553

Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis

Author keywords

APC; Associated polyposis; Familial adenomatous polyposis; MUTYH

Indexed keywords

ALANINE; APC PROTEIN; ASPARTIC ACID; DNA GLYCOSYLASE MUTY; GLUTAMIC ACID; GLUTAMINE; GLYCINE; HISTIDINE; LEUCINE; PROLINE; VALINE;

EID: 43449125623     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.00998.x     Document Type: Article
Times cited : (38)

References (31)
  • 1
    • 0025899162 scopus 로고
    • Mutation of a chromosome 5q21 gene in FAP and colorectal cancer patient
    • Nishisho I, Nakamura Y, Miyoshi Y et al. Mutation of a chromosome 5q21 gene in FAP and colorectal cancer patient. Science 1991: 253: 665-669.
    • (1991) Science , vol.253 , pp. 665-669
    • Nishisho, I.1    Nakamura, Y.2    Miyoshi, Y.3
  • 2
    • 0026664339 scopus 로고
    • Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus
    • Spirio L, Otterud B, Stauffer D et al. Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. Am J Hum Genet 1992: 51: 92-100.
    • (1992) Am J Hum Genet , vol.51 , pp. 92-100
    • Spirio, L.1    Otterud, B.2    Stauffer, D.3
  • 3
    • 0031774972 scopus 로고    scopus 로고
    • Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status
    • Heinimann K, Mullhaupt B, Weber W et al. Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status. Gut 1998: 43: 675-679.
    • (1998) Gut , vol.43 , pp. 675-679
    • Heinimann, K.1    Mullhaupt, B.2    Weber, W.3
  • 4
    • 0036140615 scopus 로고    scopus 로고
    • Genetic predisposition to clinical manifestations in familial adenomatous polyposis with special reference to duodenal lesions
    • Matsumoto T, Iida M, Kobori Y et al. Genetic predisposition to clinical manifestations in familial adenomatous polyposis with special reference to duodenal lesions. Am J Gastroenterol 2002: 97: 180-185.
    • (2002) Am J Gastroenterol , vol.97 , pp. 180-185
    • Matsumoto, T.1    Iida, M.2    Kobori, Y.3
  • 5
    • 1042304289 scopus 로고    scopus 로고
    • Inherited variants in MUTYH are unlikely to contribute to the risk of lung carcinoma
    • Al-Tassan N, Eisen T, Maynard J et al. Inherited variants in MUTYH are unlikely to contribute to the risk of lung carcinoma. Hum Genet 2004: 114: 207-210.
    • (2004) Hum Genet , vol.114 , pp. 207-210
    • Al-Tassan, N.1    Eisen, T.2    Maynard, J.3
  • 6
    • 13844313936 scopus 로고    scopus 로고
    • A functional analysis of the DNA glycosylase activity of mouse MUTYH protein excising 2-hydroxyadenine opposite guanine in DNA
    • Ushijima Y, Tominaga Y, Miura T et al. A functional analysis of the DNA glycosylase activity of mouse MUTYH protein excising 2-hydroxyadenine opposite guanine in DNA. Nucleic Acids Res 2005: 33: 672-682.
    • (2005) Nucleic Acids Res , vol.33 , pp. 672-682
    • Ushijima, Y.1    Tominaga, Y.2    Miura, T.3
  • 7
    • 0034654256 scopus 로고    scopus 로고
    • Identification of human MutY homolog (hMUTYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMUTYH located in nuclei and mitochondria
    • Ohtsubo T, Nishioka K, Imaiso Y et al. Identification of human MutY homolog (hMUTYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMUTYH located in nuclei and mitochondria. Nucleic Acids Res 2000: 28: 1355-1364.
    • (2000) Nucleic Acids Res , vol.28 , pp. 1355-1364
    • Ohtsubo, T.1    Nishioka, K.2    Imaiso, Y.3
  • 8
    • 0038501052 scopus 로고    scopus 로고
    • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MUTYH
    • Sampson JR, Dolwani S, Jones S et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MUTYH. Lancet 2003: 362: 39-41.
    • (2003) Lancet , vol.362 , pp. 39-41
    • Sampson, J.R.1    Dolwani, S.2    Jones, S.3
  • 9
    • 33645277100 scopus 로고    scopus 로고
    • Effect of the non-steroidal anti-inflammatory drug sulindac on colorectal adenomas of uncoloectomized familial adenomatous polyposis
    • Matsumoto T, Nakamura S, Esaki M et al. Effect of the non-steroidal anti-inflammatory drug sulindac on colorectal adenomas of uncoloectomized familial adenomatous polyposis. J Gastroenterol Hepatol 2006: 21: 251-257.
    • (2006) J Gastroenterol Hepatol , vol.21 , pp. 251-257
    • Matsumoto, T.1    Nakamura, S.2    Esaki, M.3
  • 10
    • 0027763498 scopus 로고
    • Molecular diagnosis of familial adenomatous polyposis
    • Powell SM, Petersen GM, Krush AJ et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993: 329: 1982-1987.
    • (1993) N Engl J Med , vol.329 , pp. 1982-1987
    • Powell, S.M.1    Petersen, G.M.2    Krush, A.J.3
  • 11
    • 0035158426 scopus 로고    scopus 로고
    • Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA
    • Sasaki T, Tahira T, Suzuki A et al. Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA. Am J Hum Genet 2001: 68: 214-218.
    • (2001) Am J Hum Genet , vol.68 , pp. 214-218
    • Sasaki, T.1    Tahira, T.2    Suzuki, A.3
  • 12
    • 0141532257 scopus 로고    scopus 로고
    • Mutator phenotype of MUTYH-null mouse embryonic stem cells
    • Hirano S, Tominaga Y, Ichinoe A et al. Mutator phenotype of MUTYH-null mouse embryonic stem cells. J Biol Chem 2003: 278: 38121-38124.
    • (2003) J Biol Chem , vol.278 , pp. 38121-38124
    • Hirano, S.1    Tominaga, Y.2    Ichinoe, A.3
  • 13
    • 10744232838 scopus 로고    scopus 로고
    • Identification and characterization of two forms of mouse MUTYH proteins encoded by alternatively spliced transcripts
    • Ichinoe A, Behmanesh M, Tominaga Y et al. Identification and characterization of two forms of mouse MUTYH proteins encoded by alternatively spliced transcripts. Nucleic Acids Res 2004: 32: 477-487.
    • (2004) Nucleic Acids Res , vol.32 , pp. 477-487
    • Ichinoe, A.1    Behmanesh, M.2    Tominaga, Y.3
  • 14
    • 0032945268 scopus 로고    scopus 로고
    • Expression and differential intracellular localization of two major forms of human 8-oxoguanine DNA glycosylase encoded by alternative spliced OGG1 mRNAs
    • Nishioka K, OhtsuboT, Oda H et al. Expression and differential intracellular localization of two major forms of human 8-oxoguanine DNA glycosylase encoded by alternative spliced OGG1 mRNAs. Mol Biol Cell 1999: 10: 1637-1652.
    • (1999) Mol Biol Cell , vol.10 , pp. 1637-1652
    • Nishioka, K.1    Ohtsubo, T.2    Oda, H.3
  • 15
    • 2942696205 scopus 로고    scopus 로고
    • MUTYH prevents OGG1 or APEX1 from inappropriately processing its substrate or reaction product with its C-Terminal domain
    • TominagaY, Ishijima Y, Tsuchimoto D et al. MUTYH prevents OGG1 or APEX1 from inappropriately processing its substrate or reaction product with its C-Terminal domain. Nucleic Acids Res 2004: 32: 3198-3211.
    • (2004) Nucleic Acids Res , vol.32 , pp. 3198-3211
    • Tominaga, Y.1    Ishijima, Y.2    Tsuchimoto, D.3
  • 16
    • 34547105083 scopus 로고    scopus 로고
    • MUTYH-null mice are susceptible to spontaneous and oxidative stress induced intestinal tumorigenesis
    • Sakamoto K, Tominaga Y, Yamauchi K et al. MUTYH-null mice are susceptible to spontaneous and oxidative stress induced intestinal tumorigenesis. Cancer Res 2007: 67: 6599-6604.
    • (2007) Cancer Res , vol.67 , pp. 6599-6604
    • Sakamoto, K.1    Tominaga, Y.2    Yamauchi, K.3
  • 17
    • 12144289614 scopus 로고    scopus 로고
    • Prevalence of the Y165C, G382D, and 395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas
    • Gismondi V, Meta M, Bonelli L et al. Prevalence of the Y165C, G382D, and 395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer 2004: 109: 680-684.
    • (2004) Int J Cancer , vol.109 , pp. 680-684
    • Gismondi, V.1    Meta, M.2    Bonelli, L.3
  • 18
    • 2942538325 scopus 로고    scopus 로고
    • High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis
    • Venesio T, Molatore S, Cattaneo F et al. High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology 2004: 126: 1681-1685.
    • (2004) Gastroenterology , vol.126 , pp. 1681-1685
    • Venesio, T.1    Molatore, S.2    Cattaneo, F.3
  • 19
    • 6444236850 scopus 로고    scopus 로고
    • A novel splice-site variant of the base excision repair gene MUTYH is associated with production of an aberrant mRNA transcript encoding a truncated MUTYH protein not localized in the nucleus
    • Tao H, Shinmura K, Haraoka T et al. A novel splice-site variant of the base excision repair gene MUTYH is associated with production of an aberrant mRNA transcript encoding a truncated MUTYH protein not localized in the nucleus. Carcinogenesis 2004: 25: 1859-1866.
    • (2004) Carcinogenesis , vol.25 , pp. 1859-1866
    • Tao, H.1    Shinmura, K.2    Haraoka, T.3
  • 20
    • 33847733537 scopus 로고    scopus 로고
    • MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas
    • Kim JC, Ka IH, Lee YM et al. MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas. Virchows Arch 2007: 450: 311-319.
    • (2007) Virchows Arch , vol.450 , pp. 311-319
    • Kim, J.C.1    Ka, I.H.2    Lee, Y.M.3
  • 21
    • 0034671587 scopus 로고    scopus 로고
    • Adenine excisional repair function of MUTYH protein of the adenine: 8-hydroxyguanine base repair in double-stranded DNA
    • Shinmura K, Yamaguchi S, Saitoh T et al. Adenine excisional repair function of MUTYH protein of the adenine: 8-hydroxyguanine base repair in double-stranded DNA. Nucleic Acids Res 2000: 28: 4912-4918.
    • (2000) Nucleic Acids Res , vol.28 , pp. 4912-4918
    • Shinmura, K.1    Yamaguchi, S.2    Saitoh, T.3
  • 22
    • 33645088681 scopus 로고    scopus 로고
    • Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea
    • Kim H, Kim HJ, Chi SG et al. Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea. World J Gastroenterol 2006: 14: 951-955.
    • (2006) World J Gastroenterol , vol.14 , pp. 951-955
    • Kim, H.1    Kim, H.J.2    Chi, S.G.3
  • 23
    • 25844529526 scopus 로고    scopus 로고
    • Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas
    • Miyaki M, Iijima T, Yamaguchi T et al. Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. Mutat Res 2005: 578: 430-433.
    • (2005) Mutat Res , vol.578 , pp. 430-433
    • Miyaki, M.1    Iijima, T.2    Yamaguchi, T.3
  • 24
    • 0037468517 scopus 로고    scopus 로고
    • Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MUTYH
    • Sieber OM, Lipton L, Crabtree M et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MUTYH. N Engl J Med 2003: 348: 791-799.
    • (2003) N Engl J Med , vol.348 , pp. 791-799
    • Sieber, O.M.1    Lipton, L.2    Crabtree, M.3
  • 25
    • 0036848267 scopus 로고    scopus 로고
    • Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations
    • Jones S, Emmerson P, Maynard J et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations. Hum Mol Genet 2002: 11: 2961-2967.
    • (2002) Hum Mol Genet , vol.11 , pp. 2961-2967
    • Jones, S.1    Emmerson, P.2    Maynard, J.3
  • 26
    • 16644377955 scopus 로고    scopus 로고
    • Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas
    • Isidro G, Laranjeira F, Pires A et al. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat 2004: 24: 353-354.
    • (2004) Hum Mutat , vol.24 , pp. 353-354
    • Isidro, G.1    Laranjeira, F.2    Pires, A.3
  • 27
    • 3242689475 scopus 로고    scopus 로고
    • MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
    • Wang L, Baudhuin LM, Boardman LA et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 2004: 127: 9-16.
    • (2004) Gastroenterology , vol.127 , pp. 9-16
    • Wang, L.1    Baudhuin, L.M.2    Boardman, L.A.3
  • 28
    • 0029897683 scopus 로고    scopus 로고
    • Increased oxidative DNA damage in Helicobacter pylori-infected human gastric mucosa
    • Baik SC, Youn HS, Chung MH et al. Increased oxidative DNA damage in Helicobacter pylori-infected human gastric mucosa. Cancer Res 1996: 56: 1279-1282.
    • (1996) Cancer Res , vol.56 , pp. 1279-1282
    • Baik, S.C.1    Youn, H.S.2    Chung, M.H.3
  • 29
    • 0031981029 scopus 로고    scopus 로고
    • Oxidative DNA damage accumulation in gastric carcinogenesis
    • Farinati F, Cardin R, Degan P et al. Oxidative DNA damage accumulation in gastric carcinogenesis. Gut 1998: 42: 351-356.
    • (1998) Gut , vol.42 , pp. 351-356
    • Farinati, F.1    Cardin, R.2    Degan, P.3
  • 30
    • 0035856021 scopus 로고    scopus 로고
    • Helicobacter pylori infection and the development of gastric cancer
    • Uemura N, Okamoto S, Yamamoto S et al. Helicobacter pylori infection and the development of gastric cancer. N Engl J Med 2001: 345: 784-789.
    • (2001) N Engl J Med , vol.345 , pp. 784-789
    • Uemura, N.1    Okamoto, S.2    Yamamoto, S.3
  • 31
    • 0035887464 scopus 로고    scopus 로고
    • Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis
    • Heinimann K, Thompson A, Locher A et al. Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis. Cancer Res 2001: 61: 7616-7622.
    • (2001) Cancer Res , vol.61 , pp. 7616-7622
    • Heinimann, K.1    Thompson, A.2    Locher, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.