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Volumn 26, Issue 56, 2007, Pages 7792-7798

The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome

Author keywords

Haploinsufficient tumor suppressor; Immunodeficiency; Lymphoma

Indexed keywords

ATM PROTEIN; CHECKPOINT KINASE 2; DOUBLE STRANDED DNA; MRE11 PROTEIN; MUTAGENIC AGENT; NIBRIN; PROTEIN P70; RAD50 PROTEIN; TRANSCRIPTION FACTOR E2F1;

EID: 36949021811     PISSN: 09509232     EISSN: 14765594     Source Type: Journal    
DOI: 10.1038/sj.onc.1210876     Document Type: Review
Times cited : (60)

References (54)
  • 2
    • 0032792820 scopus 로고    scopus 로고
    • Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: No association with risk of breast cancer
    • Carlomagno F, Chang-Claude J, Dunning AM, Ponder BA. (1999). Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. Genes Chromosomes Cancer 25: 393-395.
    • (1999) Genes Chromosomes Cancer , vol.25 , pp. 393-395
    • Carlomagno, F.1    Chang-Claude, J.2    Dunning, A.M.3    Ponder, B.A.4
  • 3
    • 0032076248 scopus 로고    scopus 로고
    • The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
    • Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates III JR et al. (1998). The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93: 477-486.
    • (1998) Cell , vol.93 , pp. 477-486
    • Carney, J.P.1    Maser, R.S.2    Olivares, H.3    Davis, E.M.4    Le Beau, M.5    Yates III, J.R.6
  • 4
    • 25444455323 scopus 로고    scopus 로고
    • Overexpression of NBS1 contributes to transformation through the activation of phosphatidylinositol 3-kinase/Akt
    • Chen YC, Su YN, Chou PC, Chiang WC, Chang MC, Wang LS et al. (2005). Overexpression of NBS1 contributes to transformation through the activation of phosphatidylinositol 3-kinase/Akt. J Biol Chem 280: 32505-32511.
    • (2005) J Biol Chem , vol.280 , pp. 32505-32511
    • Chen, Y.C.1    Su, Y.N.2    Chou, P.C.3    Chiang, W.C.4    Chang, M.C.5    Wang, L.S.6
  • 6
    • 31844434470 scopus 로고    scopus 로고
    • Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatricpatients with sporadic lymphoid malignancies
    • Chrzanowska KH, Piekutowska-Abramczuk D, Popowska E, Gladkowska-Dura M, Maldyk J, Syczewska M et al. (2006). Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatricpatients with sporadic lymphoid malignancies. Int J Cancer 118: 1269-1274.
    • (2006) Int J Cancer , vol.118 , pp. 1269-1274
    • Chrzanowska, K.H.1    Piekutowska-Abramczuk, D.2    Popowska, E.3    Gladkowska-Dura, M.4    Maldyk, J.5    Syczewska, M.6
  • 8
    • 17144442945 scopus 로고    scopus 로고
    • Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin
    • Debniak T, Gorski B, Cybulski C, Jakubowska A, Kurzawski G, Lener M et al. (2003). Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin. Melanoma Res 13: 365-370.
    • (2003) Melanoma Res , vol.13 , pp. 365-370
    • Debniak, T.1    Gorski, B.2    Cybulski, C.3    Jakubowska, A.4    Kurzawski, G.5    Lener, M.6
  • 9
    • 19544389992 scopus 로고    scopus 로고
    • An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability
    • Demuth I, Frappart PO, Hildebrand G, Melchers A, Lobitz S, Stockl L et al. (2004). An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum Mol Genet 13: 2385-2397.
    • (2004) Hum Mol Genet , vol.13 , pp. 2385-2397
    • Demuth, I.1    Frappart, P.O.2    Hildebrand, G.3    Melchers, A.4    Lobitz, S.5    Stockl, L.6
  • 10
    • 22144462810 scopus 로고    scopus 로고
    • Difilippantonio S, Celeste A, Fernandez-Capetillo O, Chen HT, Reina San Martin B, Van Laethem F et al. (2005). Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat Cell Biol 7: 675-685.
    • Difilippantonio S, Celeste A, Fernandez-Capetillo O, Chen HT, Reina San Martin B, Van Laethem F et al. (2005). Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat Cell Biol 7: 675-685.
  • 12
    • 0242610857 scopus 로고    scopus 로고
    • Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis
    • Dumon-Jones V, Frappart PO, Tong WM, Sajithlal G, Hulla W, Schmid G et al. (2003). Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer Res 63: 7263-7269.
    • (2003) Cancer Res , vol.63 , pp. 7263-7269
    • Dumon-Jones, V.1    Frappart, P.O.2    Tong, W.M.3    Sajithlal, G.4    Hulla, W.5    Schmid, G.6
  • 13
    • 18844394291 scopus 로고    scopus 로고
    • An essential function for NBS1 in the prevention of ataxia and cerebellar defects
    • Frappart PO, Tong WM, Demuth I, Radovanovic I, Herceg Z, Aguzzi A et al. (2005). An essential function for NBS1 in the prevention of ataxia and cerebellar defects. Nat Med 11: 538-544.
    • (2005) Nat Med , vol.11 , pp. 538-544
    • Frappart, P.O.1    Tong, W.M.2    Demuth, I.3    Radovanovic, I.4    Herceg, Z.5    Aguzzi, A.6
  • 16
    • 0037086702 scopus 로고    scopus 로고
    • Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair
    • Kang J, Bronson RT, Xu Y. (2002). Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. EMBO J 21: 1447-1455.
    • (2002) EMBO J , vol.21 , pp. 1447-1455
    • Kang, J.1    Bronson, R.T.2    Xu, Y.3
  • 18
    • 33845653255 scopus 로고    scopus 로고
    • Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein
    • Krüger L, Demuth I, Neitzel H, Varon R, Sperling K, Chrzanowska KH et al. (2007). Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. Carcinogenesis 28: 107-111.
    • (2007) Carcinogenesis , vol.28 , pp. 107-111
    • Krüger, L.1    Demuth, I.2    Neitzel, H.3    Varon, R.4    Sperling, K.5    Chrzanowska, K.H.6
  • 19
    • 17644409069 scopus 로고    scopus 로고
    • ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex
    • Lee JH, Paull TT. (2005). ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science 308: 551-554.
    • (2005) Science , vol.308 , pp. 551-554
    • Lee, J.H.1    Paull, T.T.2
  • 20
    • 33751016367 scopus 로고    scopus 로고
    • Cerebral developmental disorders
    • Lian G, Sheen V. (2006). Cerebral developmental disorders. Curr Opin Pediatr 18: 614-620.
    • (2006) Curr Opin Pediatr , vol.18 , pp. 614-620
    • Lian, G.1    Sheen, V.2
  • 21
    • 0034611728 scopus 로고    scopus 로고
    • ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway
    • Lim DS, Kim ST, Xu B, Maser RS, Lin J, Petrini JH et al. (2000). ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 404: 613-617.
    • (2000) Nature , vol.404 , pp. 613-617
    • Lim, D.S.1    Kim, S.T.2    Xu, B.3    Maser, R.S.4    Lin, J.5    Petrini, J.H.6
  • 22
    • 0035068565 scopus 로고    scopus 로고
    • An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele
    • Maser RS, Zinkel R, Petrini JH. (2001). An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat Genet 27: 417-421.
    • (2001) Nat Genet , vol.27 , pp. 417-421
    • Maser, R.S.1    Zinkel, R.2    Petrini, J.H.3
  • 25
    • 34347258929 scopus 로고    scopus 로고
    • Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling
    • O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA. (2007). Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am J Hum Genet 81: 77-86.
    • (2007) Am J Hum Genet , vol.81 , pp. 77-86
    • O'Driscoll, M.1    Dobyns, W.B.2    van Hagen, J.M.3    Jeggo, P.A.4
  • 26
    • 33745628782 scopus 로고    scopus 로고
    • Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development
    • Orii KE, Lee Y, Kondo N, McKinnon PJ. (2006). Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development. Proc Natl Acad Sci USA 103: 10017-10022.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 10017-10022
    • Orii, K.E.1    Lee, Y.2    Kondo, N.3    McKinnon, P.J.4
  • 27
    • 27944490866 scopus 로고    scopus 로고
    • Tumor suppressor genetics
    • Payne SR, Kemp CJ. (2005). Tumor suppressor genetics. Carcinogenesis 26: 2031-2045.
    • (2005) Carcinogenesis , vol.26 , pp. 2031-2045
    • Payne, S.R.1    Kemp, C.J.2
  • 28
    • 33746503104 scopus 로고    scopus 로고
    • Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome
    • Porcedda P, Turinetto V, Lantelme E, Fontanella E, Chrzanowska K, Ragona R et al. (2006). Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome. DNA Repair (Amst) 5: 904-913.
    • (2006) DNA Repair (Amst) , vol.5 , pp. 904-913
    • Porcedda, P.1    Turinetto, V.2    Lantelme, E.3    Fontanella, E.4    Chrzanowska, K.5    Ragona, R.6
  • 30
    • 13444309097 scopus 로고    scopus 로고
    • Genomicinstability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1
    • Reina-San-Martin B, Nussenzweig MC, Nussenzweig A, Difilippantonio S. (2005). Genomicinstability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1. Proc Natl Acad Sci USA 102: 1590-1595.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 1590-1595
    • Reina-San-Martin, B.1    Nussenzweig, M.C.2    Nussenzweig, A.3    Difilippantonio, S.4
  • 31
    • 10744226677 scopus 로고    scopus 로고
    • 657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls
    • Resnick IB, Kondratenko I, Pashanov E, Maschan AA, Karachunsky A, Togoev O et al. (2003). 657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls. Am J Med Genet 120A: 174-179.
    • (2003) Am J Med Genet , vol.120 A , pp. 174-179
    • Resnick, I.B.1    Kondratenko, I.2    Pashanov, E.3    Maschan, A.A.4    Karachunsky, A.5    Togoev, O.6
  • 33
    • 2542432915 scopus 로고    scopus 로고
    • Haploinsufficiency for tumour suppressor genes: When you don't need to go all the way
    • Santarosa M, Ashworth A. (2004). Haploinsufficiency for tumour suppressor genes: when you don't need to go all the way. Biochim Biophys Acta 1654: 105-122.
    • (2004) Biochim Biophys Acta , vol.1654 , pp. 105-122
    • Santarosa, M.1    Ashworth, A.2
  • 34
    • 0025268280 scopus 로고
    • An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability
    • Seemanova E. (1990). An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mutat Res 238: 321-324.
    • (1990) Mutat Res , vol.238 , pp. 321-324
    • Seemanova, E.1
  • 35
    • 33144456179 scopus 로고    scopus 로고
    • Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome
    • Seemanova E, Jarolim P, Seeman P, Varon R, Sperling K. (2006a). Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome. Cas Lek Cesk 145: 138-143.
    • (2006) Cas Lek Cesk , vol.145 , pp. 138-143
    • Seemanova, E.1    Jarolim, P.2    Seeman, P.3    Varon, R.4    Sperling, K.5
  • 38
    • 33645125102 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability
    • Seemanova E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O et al. (2006). Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. J Med Genet 43: 218-224.
    • (2006) J Med Genet , vol.43 , pp. 218-224
    • Seemanova, E.1    Sperling, K.2    Neitzel, H.3    Varon, R.4    Hadac, J.5    Butova, O.6
  • 39
    • 0034085362 scopus 로고    scopus 로고
    • No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence
    • Stanulla M, Stumm M, Dieckvoss BO, Seidemann K, Schemmel V, Muller Brechlin A et al. (2000). No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence. Br J Haematol 109: 117-120.
    • (2000) Br J Haematol , vol.109 , pp. 117-120
    • Stanulla, M.1    Stumm, M.2    Dieckvoss, B.O.3    Seidemann, K.4    Schemmel, V.5    Muller Brechlin, A.6
  • 40
    • 33751581029 scopus 로고    scopus 로고
    • Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation
    • Steffen J, Maneva G, Poplawska L, Varon R, Mioduszewska O, Sperling K. (2006a). Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation. Int J Cancer 119: 2970-2973.
    • (2006) Int J Cancer , vol.119 , pp. 2970-2973
    • Steffen, J.1    Maneva, G.2    Poplawska, L.3    Varon, R.4    Mioduszewska, O.5    Sperling, K.6
  • 41
    • 33745225487 scopus 로고    scopus 로고
    • Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland
    • Steffen J, Nowakowska D, Niwinska A, Czapczak D, Kluska A, Piatkowska M et al. (2006b). Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer 119: 472-475.
    • (2006) Int J Cancer , vol.119 , pp. 472-475
    • Steffen, J.1    Nowakowska, D.2    Niwinska, A.3    Czapczak, D.4    Kluska, A.5    Piatkowska, M.6
  • 42
    • 3042818662 scopus 로고    scopus 로고
    • Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland
    • Steffen J, Varon R, Mosor M, Maneva G, Maurer M, Stumm M et al. (2004). Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int J Cancer 111: 67-71.
    • (2004) Int J Cancer , vol.111 , pp. 67-71
    • Steffen, J.1    Varon, R.2    Mosor, M.3    Maneva, G.4    Maurer, M.5    Stumm, M.6
  • 44
    • 34248579748 scopus 로고    scopus 로고
    • The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex
    • Stracker TH, Morales M, Couto SS, Hussein H, Petrini JH. (2007). The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex. Nature 447: 218-221.
    • (2007) Nature , vol.447 , pp. 218-221
    • Stracker, T.H.1    Morales, M.2    Couto, S.S.3    Hussein, H.4    Petrini, J.H.5
  • 45
    • 36949039761 scopus 로고    scopus 로고
    • Taylor GM, O'Brien HP, Greaves MF, Ravetto PF, Eden OB. (2001). Correspondence re: R Varon et al., Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia. Cancer Res., 61: 3570-3572, 2001. Cancer Res 63: 6563-6564; author reply 6565.
    • Taylor GM, O'Brien HP, Greaves MF, Ravetto PF, Eden OB. (2001). Correspondence re: R Varon et al., Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia. Cancer Res., 61: 3570-3572, 2001. Cancer Res 63: 6563-6564; author reply 6565.
  • 46
    • 10644270921 scopus 로고    scopus 로고
    • p73 induction after DNA damage is regulated by checkpoint kinases Chk1 and Chk2
    • Urist M, Tanaka T, Poyurovsky MV, Prives C. (2004). p73 induction after DNA damage is regulated by checkpoint kinases Chk1 and Chk2. Genes Dev 18: 3041-3054.
    • (2004) Genes Dev , vol.18 , pp. 3041-3054
    • Urist, M.1    Tanaka, T.2    Poyurovsky, M.V.3    Prives, C.4
  • 48
    • 0035328489 scopus 로고    scopus 로고
    • Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL)
    • Varon R, Reis A, Henze G, von Einsiedel HG, Sperling K, Seeger K. (2001). Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res 61: 3570-3572.
    • (2001) Cancer Res , vol.61 , pp. 3570-3572
    • Varon, R.1    Reis, A.2    Henze, G.3    von Einsiedel, H.G.4    Sperling, K.5    Seeger, K.6
  • 49
    • 0032076190 scopus 로고    scopus 로고
    • Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
    • Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K et al. (1998). Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93: 467-476.
    • (1998) Cell , vol.93 , pp. 467-476
    • Varon, R.1    Vissinga, C.2    Platzer, M.3    Cerosaletti, K.M.4    Chrzanowska, K.H.5    Saar, K.6
  • 52
    • 34250897968 scopus 로고    scopus 로고
    • SIRT1 regulates the function of the Nijmegen breakage syndrome protein
    • Yuan Z, Zhang X, Sengupta N, Lane WS, Seto E. (2007). SIRT1 regulates the function of the Nijmegen breakage syndrome protein. Mol Cell 27: 149-162.
    • (2007) Mol Cell , vol.27 , pp. 149-162
    • Yuan, Z.1    Zhang, X.2    Sengupta, N.3    Lane, W.S.4    Seto, E.5
  • 53
    • 34250893018 scopus 로고    scopus 로고
    • The effects of NBS1 knockdown by small interfering RNA on the ionizing radiation-induced apoptosis in human lymphoblastoid cells with different p53 status
    • Zhang Y, Lim CU, Zhou J, Liber HH. (2007). The effects of NBS1 knockdown by small interfering RNA on the ionizing radiation-induced apoptosis in human lymphoblastoid cells with different p53 status. Toxicol Lett 171: 50-59.
    • (2007) Toxicol Lett , vol.171 , pp. 50-59
    • Zhang, Y.1    Lim, C.U.2    Zhou, J.3    Liber, H.H.4
  • 54
    • 0035936554 scopus 로고    scopus 로고
    • Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice
    • Zhu J, Petersen S, Tessarollo L, Nussenzweig A. (2001). Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr Biol 11: 105-109.
    • (2001) Curr Biol , vol.11 , pp. 105-109
    • Zhu, J.1    Petersen, S.2    Tessarollo, L.3    Nussenzweig, A.4


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