메뉴 건너뛰기




Volumn 33, Issue 9, 2012, Pages 1647-1654

The hMSH2(M688R) lynch syndrome mutation may function as a dominant negative

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATE; HETERODIMER; PROTEIN MSH2; PROTEIN MSH6;

EID: 84865544805     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgs199     Document Type: Article
Times cited : (7)

References (50)
  • 1
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • Umar, A. et al. (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J. Natl Cancer. Inst., 96, 261-268.
    • (2004) J. Natl Cancer. Inst. , vol.96 , pp. 261-268
    • Umar, A.1
  • 2
    • 16644378293 scopus 로고    scopus 로고
    • Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic
    • Lipton, L.R. et al. (2004) Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. J. Clin. Oncol., 22, 4934-4943.
    • (2004) J. Clin. Oncol. , vol.22 , pp. 4934-4943
    • Lipton, L.R.1
  • 3
    • 0029042130 scopus 로고
    • Identification of mismatch repair genes and their role in the development of cancer
    • Fishel, R. et al. (1995) Identification of mismatch repair genes and their role in the development of cancer. Curr. Opin. Genet. Dev., 5, 382-395.
    • (1995) Curr. Opin. Genet. Dev. , vol.5 , pp. 382-395
    • Fishel, R.1
  • 4
    • 0033039014 scopus 로고    scopus 로고
    • Eukaryotic DNA mismatch repair
    • Kolodner, R.D. et al. (1999) Eukaryotic DNA mismatch repair. Curr. Opin. Genet. Dev., 9, 89-96.
    • (1999) Curr. Opin. Genet. Dev. , vol.9 , pp. 89-96
    • Kolodner, R.D.1
  • 5
    • 0032723363 scopus 로고    scopus 로고
    • Signaling mismatch repair in cancer
    • Fishel, R. (1999) Signaling mismatch repair in cancer. Nat. Med., 5, 1239-1241.
    • (1999) Nat. Med. , vol.5 , pp. 1239-1241
    • Fishel, R.1
  • 6
    • 0033600234 scopus 로고    scopus 로고
    • The tyrosine kinase c-Abl regulates p73 in apoptotic response to cisplatin-induced DNA damage
    • Gong, J.G. et al. (1999) The tyrosine kinase c-Abl regulates p73 in apoptotic response to cisplatin-induced DNA damage. Nature, 399, 806-809.
    • (1999) Nature , vol.399 , pp. 806-809
    • Gong, J.G.1
  • 7
    • 0027292234 scopus 로고
    • An alkylation-tolerant, mutator human cell line is deficient in strand-specific mismatch repair
    • Kat, A. et al. (1993) An alkylation-tolerant, mutator human cell line is deficient in strand-specific mismatch repair. Proc. Natl Acad. Sci. USA, 90, 6424-6428.
    • (1993) Proc. Natl Acad. Sci. USA , vol.90 , pp. 6424-6428
    • Kat, A.1
  • 8
    • 0033168064 scopus 로고    scopus 로고
    • Apoptosis induced by overexpression of hMSH2 or hMLH1
    • Zhang, H. et al. (1999) Apoptosis induced by overexpression of hMSH2 or hMLH1. Cancer Res, 59, 3021-3027.
    • (1999) Cancer Res , vol.59 , pp. 3021-3027
    • Zhang, H.1
  • 9
    • 0031059532 scopus 로고    scopus 로고
    • MutS homologs in mammalian cells
    • Fishel, R. et al. (1997) MutS homologs in mammalian cells. Curr. Opin. Genet. Dev., 7, 105-113.
    • (1997) Curr. Opin. Genet. Dev. , vol.7 , pp. 105-113
    • Fishel, R.1
  • 10
    • 0033083040 scopus 로고    scopus 로고
    • hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA
    • Gradia, S. et al. (1999) hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA. Mol. Cell., 3, 255-261.
    • (1999) Mol. Cell. , vol.3 , pp. 255-261
    • Gradia, S.1
  • 11
    • 34248572591 scopus 로고    scopus 로고
    • Structure of the human MutSalpha DNA lesion recognition complex
    • Warren, J.J. et al. (2007) Structure of the human MutSalpha DNA lesion recognition complex. Mol. Cell., 26, 579-592.
    • (2007) Mol. Cell. , vol.26 , pp. 579-592
    • Warren, J.J.1
  • 12
    • 0025734115 scopus 로고
    • Altering the conserved nucleotide binding motif in the Salmonella typhimurium MutS mismatch repair protein affects both its ATPase and mismatch binding activities
    • Haber, L.T. et al. (1991) Altering the conserved nucleotide binding motif in the Salmonella typhimurium MutS mismatch repair protein affects both its ATPase and mismatch binding activities. Embo J., 10, 2707-2715.
    • (1991) Embo J. , vol.10 , pp. 2707-2715
    • Haber, L.T.1
  • 13
    • 0027980253 scopus 로고
    • Dominant negative mutator mutations in the mutS gene of Escherichia coli
    • Wu, T.H. et al. (1994) Dominant negative mutator mutations in the mutS gene of Escherichia coli. J. Bacteriol., 176, 5393-5400.
    • (1994) J. Bacteriol. , vol.176 , pp. 5393-5400
    • Wu, T.H.1
  • 14
    • 0030962031 scopus 로고    scopus 로고
    • Genetic and biochemical analysis of Msh2p-Msh6p: role of ATP hydrolysis and Msh2p-Msh6p subunit interactions in mismatch base pair recognition
    • Alani, E. et al. (1997) Genetic and biochemical analysis of Msh2p-Msh6p: role of ATP hydrolysis and Msh2p-Msh6p subunit interactions in mismatch base pair recognition. Mol. Cell. Biol., 17, 2436-2447.
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 2436-2447
    • Alani, E.1
  • 15
    • 30344450079 scopus 로고    scopus 로고
    • Contribution of Msh2 and Msh6 subunits to the asymmetric ATPase and DNA mismatch binding activities of Saccharomyces cerevisiae Msh2-Msh6 mismatch repair protein
    • Antony, E. et al. (2006) Contribution of Msh2 and Msh6 subunits to the asymmetric ATPase and DNA mismatch binding activities of Saccharomyces cerevisiae Msh2-Msh6 mismatch repair protein. DNA Repair, 5, 153-162.
    • (2006) DNA Repair , vol.5 , pp. 153-162
    • Antony, E.1
  • 16
    • 2642554558 scopus 로고    scopus 로고
    • Mutations in the nucleotide-binding domain of MutS homologs uncouple cell death from cell survival
    • Drotschmann, K. et al. (2004) Mutations in the nucleotide-binding domain of MutS homologs uncouple cell death from cell survival. DNA Repair, 3, 729-742.
    • (2004) DNA Repair , vol.3 , pp. 729-742
    • Drotschmann, K.1
  • 17
    • 0032079736 scopus 로고    scopus 로고
    • hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMut-Salpha
    • Iaccarino, I. et al. (1998) hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMut-Salpha. Embo J., 17, 2677-2686.
    • (1998) Embo J. , vol.17 , pp. 2677-2686
    • Iaccarino, I.1
  • 18
    • 33749255359 scopus 로고    scopus 로고
    • New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife
    • Medina-Arana, V. et al. (2006) New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife. Cancer Lett., 244, 268-273.
    • (2006) Cancer Lett. , vol.244 , pp. 268-273
    • Medina-Arana, V.1
  • 19
    • 0031942514 scopus 로고    scopus 로고
    • Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer
    • Yuan, Y. et al. (1998) 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) Dis. Colon Rectum , vol.41 , pp. 434-440
    • Yuan, Y.1
  • 20
    • 0141565164 scopus 로고    scopus 로고
    • Identification of germline MSH2 gene mutations in endometrial cancer not fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer
    • Banno, K. et al. (2003) Identification of germline MSH2 gene mutations in endometrial cancer not fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer. Cancer Genet. Cytogenet., 146, 58-65.
    • (2003) Cancer Genet. Cytogenet. , vol.146 , pp. 58-65
    • Banno, K.1
  • 21
    • 0034728794 scopus 로고    scopus 로고
    • Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds
    • Nomura, S. et al. (2000) 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) Biochem. Biophys. Res. Commun. , vol.271 , pp. 120-129
    • Nomura, S.1
  • 22
    • 0001510499 scopus 로고    scopus 로고
    • Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene
    • De Rosa, M. et al. (2000) Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene, 19, 1719-1723.
    • (2000) Oncogene , vol.19 , pp. 1719-1723
    • De Rosa, M.1
  • 23
    • 10744228073 scopus 로고    scopus 로고
    • Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation
    • Gallinger, S. et al. (2004) Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology, 126, 576-585.
    • (2004) Gastroenterology , vol.126 , pp. 576-585
    • Gallinger, S.1
  • 24
    • 27644596327 scopus 로고    scopus 로고
    • A homozygous mutation in MSH6 causes Turcot syndrome
    • Hegde, M.R. et al. (2005) A homozygous mutation in MSH6 causes Turcot syndrome. Clin. Cancer Res., 11, 4689-4693.
    • (2005) Clin. Cancer Res. , vol.11 , pp. 4689-4693
    • Hegde, M.R.1
  • 25
    • 16544395180 scopus 로고    scopus 로고
    • A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer
    • Menko, F.H. et al. (2004) A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer. Fam. Cancer, 3, 123-127.
    • (2004) Fam. Cancer , vol.3 , pp. 123-127
    • Menko, F.H.1
  • 26
    • 34249030956 scopus 로고    scopus 로고
    • Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies
    • Poley, J.W. et al. (2007) Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Cancer, 109, 2349-2356.
    • (2007) Cancer , vol.109 , pp. 2349-2356
    • Poley, J.W.1
  • 27
    • 0031456973 scopus 로고    scopus 로고
    • The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch
    • Gradia, S. et al. (1997) The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch. Cell, 91, 995-1005.
    • (1997) Cell , vol.91 , pp. 995-1005
    • Gradia, S.1
  • 28
    • 63149199448 scopus 로고    scopus 로고
    • Sequence context effect for hMSH2-hMSH6 mismatch-dependent activation
    • Mazurek, A. et al. (2009) Sequence context effect for hMSH2-hMSH6 mismatch-dependent activation. Proc. Natl Acad. Sci. USA, 106, 4177-4182.
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 4177-4182
    • Mazurek, A.1
  • 29
    • 0034635517 scopus 로고    scopus 로고
    • The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switch
    • Gradia, S. et al. (2000) The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switch. J. Biol. Chem., 275, 3922-3930.
    • (2000) J. Biol. Chem. , vol.275 , pp. 3922-3930
    • Gradia, S.1
  • 30
    • 0037040962 scopus 로고    scopus 로고
    • Activation of human MutS homologs by 8-oxo-guanine DNA damage
    • Mazurek, A. et al. (2002) Activation of human MutS homologs by 8-oxo-guanine DNA damage. J. Biol. Chem., 277, 8260-8266.
    • (2002) J. Biol. Chem. , vol.277 , pp. 8260-8266
    • Mazurek, A.1
  • 31
    • 0036597521 scopus 로고    scopus 로고
    • HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions
    • Heinen, C.D. et al. (2002) HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. Cancer Cell, 1, 469-478.
    • (2002) Cancer Cell , vol.1 , pp. 469-478
    • Heinen, C.D.1
  • 32
    • 0029927505 scopus 로고    scopus 로고
    • Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels
    • Shevchenko, A. et al. (1996) Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels. Anal. Chem., 68, 850-858.
    • (1996) Anal. Chem. , vol.68 , pp. 850-858
    • Shevchenko, A.1
  • 33
    • 34248596352 scopus 로고    scopus 로고
    • Catalytic efficiency and kcat/KM: a useful comparator? Trends Biotechnol., 25, 247-249.
    • Eisenthal, R. et al. (2007) Catalytic efficiency and kcat/KM: a useful comparator? Trends Biotechnol., 25, 247-249.
    • (2007)
    • Eisenthal, R.1
  • 34
    • 2342425404 scopus 로고    scopus 로고
    • Differential requirement for proliferating cell nuclear antigen in 5' and 3' nick-directed excision in human mismatch repair
    • Guo, S. et al. (2004) Differential requirement for proliferating cell nuclear antigen in 5' and 3' nick-directed excision in human mismatch repair. J. Biol. Chem., 279, 16912-16917
    • (2004) J. Biol. Chem. , vol.279 , pp. 16912-16917
    • Guo, S.1
  • 35
    • 24144447320 scopus 로고    scopus 로고
    • Reconstitution of 5'-directed human mismatch repair in a purified system
    • Zhang, Y. et al. (2005) Reconstitution of 5'-directed human mismatch repair in a purified system. Cell, 122, 693-705.
    • (2005) Cell , vol.122 , pp. 693-705
    • Zhang, Y.1
  • 36
    • 0027137935 scopus 로고
    • Hypermutability and mismatch repair deficiency in RER+ tumor cells
    • Parsons, R. et al. (1993) Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell, 75, 1227-1236.
    • (1993) Cell , vol.75 , pp. 1227-1236
    • Parsons, R.1
  • 37
    • 1542267714 scopus 로고    scopus 로고
    • Tumour spectrum of non-polyposis colorectal cancer (Lynch syndrome) on the island of Tenerife and influence of insularity on the clinical manifestations
    • Medina-Arana, V. et al. (2004) Tumour spectrum of non-polyposis colorectal cancer (Lynch syndrome) on the island of Tenerife and influence of insularity on the clinical manifestations. Eur. J. Cancer Prev., 13, 27-32.
    • (2004) Eur. J. Cancer Prev. , vol.13 , pp. 27-32
    • Medina-Arana, V.1
  • 38
    • 0035986651 scopus 로고    scopus 로고
    • Highly aggressive leiomyosarcoma associated with Lynch II syndrome: increasing the range of extracolonic cancers related with hereditary non-polyposis colonic cancer
    • Medina Arana, V. et al. (2002) Highly aggressive leiomyosarcoma associated with Lynch II syndrome: increasing the range of extracolonic cancers related with hereditary non-polyposis colonic cancer. Ann. Oncol., 13, 807-808.
    • (2002) Ann. Oncol. , vol.13 , pp. 807-808
    • Medina Arana, V.1
  • 39
    • 35549009683 scopus 로고    scopus 로고
    • Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae
    • Gammie, A.E. et al. (2007) Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Genetics, 177, 707-721.
    • (2007) Genetics , vol.177 , pp. 707-721
    • Gammie, A.E.1
  • 40
    • 79952774980 scopus 로고    scopus 로고
    • Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells
    • Wielders, E.A. et al. (2011) Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells. Hum. Mutat., 32, 389-396.
    • (2011) Hum. Mutat. , vol.32 , pp. 389-396
    • Wielders, E.A.1
  • 41
    • 55549123210 scopus 로고    scopus 로고
    • Mechanisms of pathogenicity in human MSH2 missense mutants
    • Ollila, S. et al. (2008) Mechanisms of pathogenicity in human MSH2 missense mutants. Hum. Mutat., 29, 1355-1363.
    • (2008) Hum. Mutat. , vol.29 , pp. 1355-1363
    • Ollila, S.1
  • 42
    • 79952363840 scopus 로고    scopus 로고
    • MutS switches between two fundamentally distinct clamps during mismatch repair
    • Jeong, C. et al. (2011) MutS switches between two fundamentally distinct clamps during mismatch repair. Nat. Struct. Mol. Biol., 18, 379-385.
    • (2011) Nat. Struct. Mol. Biol. , vol.18 , pp. 379-385
    • Jeong, C.1
  • 43
    • 34548783162 scopus 로고    scopus 로고
    • Coupling distant sites in DNA during DNA mismatch repair
    • Kolodner, R.D. et al. (2007) Coupling distant sites in DNA during DNA mismatch repair. Proc. Natl Acad. Sci. USA, 104, 12953-12954.
    • (2007) Proc. Natl Acad. Sci. USA , vol.104 , pp. 12953-12954
    • Kolodner, R.D.1
  • 44
    • 0036639882 scopus 로고    scopus 로고
    • Deficiency of a novel mismatch repair activity in a bladder tumor cell line
    • Gu, L. et al. (2002) Deficiency of a novel mismatch repair activity in a bladder tumor cell line. Nucleic Acids Res., 30, 2758-2763.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 2758-2763
    • Gu, L.1
  • 45
    • 78650500590 scopus 로고    scopus 로고
    • MicroRNA-21 induces resistance to 5-fluorouracil by down-regulating human DNA MutS homolog 2 (hMSH2)
    • Valeri, N. et al. (2010) MicroRNA-21 induces resistance to 5-fluorouracil by down-regulating human DNA MutS homolog 2 (hMSH2). Proc. Natl Acad. Sci. USA, 107, 21098-21103.
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , pp. 21098-21103
    • Valeri, N.1
  • 46
    • 77951030494 scopus 로고    scopus 로고
    • Modulation of mismatch repair and genomic stability by miR-155
    • Valeri, N. et al. (2010) Modulation of mismatch repair and genomic stability by miR-155. Proc. Natl Acad. Sci. USA, 107, 6982-6987.
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , pp. 6982-6987
    • Valeri, N.1
  • 47
    • 33947409117 scopus 로고    scopus 로고
    • The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair
    • Deschenes, S.M. et al. (2007) The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair. Cancer Lett., 249, 148-156.
    • (2007) Cancer Lett. , vol.249 , pp. 148-156
    • Deschenes, S.M.1
  • 48
    • 0031910118 scopus 로고    scopus 로고
    • A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype
    • Nicolaides, N.C. et al. (1998) A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. Mol. Cell. Biol., 18, 1635-1641.
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 1635-1641
    • Nicolaides, N.C.1
  • 49
    • 34547785606 scopus 로고    scopus 로고
    • Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players
    • Rahman, N. et al. (2007) Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players. Hum. Mol. Genet., 16 (Suppl. 1), R60-R66.
    • (2007) Hum. Mol. Genet. , vol.16 , Issue.SUPPL. 1
    • Rahman, N.1
  • 50
    • 0028785603 scopus 로고
    • Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer
    • Parsons, R. et al. (1995) Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer. Cancer Res., 55, 5548-5550.
    • (1995) Cancer Res. , vol.55 , pp. 5548-5550
    • Parsons, R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.