메뉴 건너뛰기




Volumn 370, Issue 3, 2007, Pages 449-458

Defective Signal Joint Recombination in Fanconi Anemia Fibroblasts Reveals a Role for Rad50 in V(D)J Recombination

Author keywords

Fanconi anemia; fibroblast; Nijmegen breakage syndrome; Rad50; V(D)J recombination

Indexed keywords

DOUBLE STRANDED DNA; MRE11 PROTEIN; NIBRIN; PROTEIN ANTIBODY; RAD50 PROTEIN; RECOMBINANT PROTEIN;

EID: 34250200743     PISSN: 00222836     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmb.2007.03.014     Document Type: Article
Times cited : (5)

References (53)
  • 1
    • 0035997348 scopus 로고    scopus 로고
    • V(D)J recombination: RAG proteins, repair factors, and regulation
    • Gellert M. V(D)J recombination: RAG proteins, repair factors, and regulation. Annu. Rev. Biochem. 71 (2002) 101-132
    • (2002) Annu. Rev. Biochem. , vol.71 , pp. 101-132
    • Gellert, M.1
  • 2
    • 0842303307 scopus 로고    scopus 로고
    • Unravelling V(D)J recombination; insights into gene regulation
    • Jung D., and Alt F.W. Unravelling V(D)J recombination; insights into gene regulation. Cell 116 (2004) 299-311
    • (2004) Cell , vol.116 , pp. 299-311
    • Jung, D.1    Alt, F.W.2
  • 3
    • 2942680399 scopus 로고    scopus 로고
    • V(D)J recombination and the evolution of the adaptive immune system
    • Market E., and Papavasiliou F.N. V(D)J recombination and the evolution of the adaptive immune system. PLoS Biol. 1 (2003) 24-27
    • (2003) PLoS Biol. , vol.1 , pp. 24-27
    • Market, E.1    Papavasiliou, F.N.2
  • 4
    • 0028805853 scopus 로고
    • Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps
    • McBlane J.F., van Gent D.C., Ramsden D.A., Romeo C., Cuomo C.A., Gellert M., and Oettinger M.A. Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell 83 (1995) 387-395
    • (1995) Cell , vol.83 , pp. 387-395
    • McBlane, J.F.1    van Gent, D.C.2    Ramsden, D.A.3    Romeo, C.4    Cuomo, C.A.5    Gellert, M.6    Oettinger, M.A.7
  • 5
    • 0035917489 scopus 로고    scopus 로고
    • Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
    • Moshous D., Callebaut I., de Chasseval R., Corneo B., Cavazzana-Calvo M., Le Deist F., et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105 (2001) 117-186
    • (2001) Cell , vol.105 , pp. 117-186
    • Moshous, D.1    Callebaut, I.2    de Chasseval, R.3    Corneo, B.4    Cavazzana-Calvo, M.5    Le Deist, F.6
  • 6
    • 33646181086 scopus 로고    scopus 로고
    • Mechanism and control of V(D)J recombination at the immunoglobulin heavy chain locus
    • Jung D., Giallourakis C., Mostoslavsky R., and Alt F.W. Mechanism and control of V(D)J recombination at the immunoglobulin heavy chain locus. Annu. Rev. Immunol. 24 (2006) 541-570
    • (2006) Annu. Rev. Immunol. , vol.24 , pp. 541-570
    • Jung, D.1    Giallourakis, C.2    Mostoslavsky, R.3    Alt, F.W.4
  • 7
    • 3242879122 scopus 로고    scopus 로고
    • The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination
    • Lieber M.R., Ma Y., Pannicke U., and Schwarz K. The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination. DNA Repair 3 (2004) 817-826
    • (2004) DNA Repair , vol.3 , pp. 817-826
    • Lieber, M.R.1    Ma, Y.2    Pannicke, U.3    Schwarz, K.4
  • 8
    • 0029024927 scopus 로고
    • Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination
    • Wei Y.F., Robins P., Carter K., Caldecott K., Pappin D.J., Yu G.L., et al. Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination. Mol. Cell. Biol. 15 (1995) 3206-3216
    • (1995) Mol. Cell. Biol. , vol.15 , pp. 3206-3216
    • Wei, Y.F.1    Robins, P.2    Carter, K.3    Caldecott, K.4    Pappin, D.J.5    Yu, G.L.6
  • 9
    • 0029585872 scopus 로고
    • The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination
    • Li Z., Otevrel T., Gao Y., Cheng H.L., Seed B., Stamato T.D., et al. The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell 83 (1995) 1079-1089
    • (1995) Cell , vol.83 , pp. 1079-1089
    • Li, Z.1    Otevrel, T.2    Gao, Y.3    Cheng, H.L.4    Seed, B.5    Stamato, T.D.6
  • 11
    • 0022000813 scopus 로고
    • Use of monoclonal antibodies for the characterization of novel DNA-binding proteins recognized by human autoimmune sera
    • Reeves W.H. Use of monoclonal antibodies for the characterization of novel DNA-binding proteins recognized by human autoimmune sera. J. Expt. Med. 161 (1985) 18-39
    • (1985) J. Expt. Med. , vol.161 , pp. 18-39
    • Reeves, W.H.1
  • 12
    • 0027048773 scopus 로고
    • Ku autoantigen is the regulatory component of a template-associated protein kinase that phosphorylates RNA polymerase II
    • Dvir A., Peterson S.R., Knuth M.W., Lu H., and Dynan W.S. Ku autoantigen is the regulatory component of a template-associated protein kinase that phosphorylates RNA polymerase II. Proc. Natl Acad. Sci. USA 89 (1992) 11920-11924
    • (1992) Proc. Natl Acad. Sci. USA , vol.89 , pp. 11920-11924
    • Dvir, A.1    Peterson, S.R.2    Knuth, M.W.3    Lu, H.4    Dynan, W.S.5
  • 13
    • 31044432090 scopus 로고    scopus 로고
    • XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining
    • Ahnesorg P., Smith P., and Jackson S.P. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell 124 (2006) 301-313
    • (2006) Cell , vol.124 , pp. 301-313
    • Ahnesorg, P.1    Smith, P.2    Jackson, S.P.3
  • 14
    • 31044440630 scopus 로고    scopus 로고
    • Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly
    • Buck D., Malivert L., de Chasseval R., Barraud A., Fondaneche M.C., Sanal O., et al. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 124 (2006) 287-299
    • (2006) Cell , vol.124 , pp. 287-299
    • Buck, D.1    Malivert, L.2    de Chasseval, R.3    Barraud, A.4    Fondaneche, M.C.5    Sanal, O.6
  • 15
    • 0030811523 scopus 로고    scopus 로고
    • Yeast DNA ligase IV mediates non-homologous DNA end joining
    • Wilson T.E., Grawunder U., and Lieber M.R. Yeast DNA ligase IV mediates non-homologous DNA end joining. Nature 388 (1997) 495-498
    • (1997) Nature , vol.388 , pp. 495-498
    • Wilson, T.E.1    Grawunder, U.2    Lieber, M.R.3
  • 16
    • 0032528066 scopus 로고    scopus 로고
    • Saccharomyces cerevisiae LIF1; a function involved in DNA double-strand break repair related to mammalian XRCC4
    • Herrmann G., Lindahl T., and Schar P. Saccharomyces cerevisiae LIF1; a function involved in DNA double-strand break repair related to mammalian XRCC4. EMBO J. 17 (1998) 4188-4198
    • (1998) EMBO J. , vol.17 , pp. 4188-4198
    • Herrmann, G.1    Lindahl, T.2    Schar, P.3
  • 17
    • 0030033061 scopus 로고    scopus 로고
    • The Saccharomyces cerevisiae Ku autoantigen homologue affects radiosensitivity only in the absence of homologous recombination
    • Siede W., Friedl A.A., Dianova I., Eckardt-Schupp F., and Friedberg E.C. The Saccharomyces cerevisiae Ku autoantigen homologue affects radiosensitivity only in the absence of homologous recombination. Genetics 142 (1996) 91-102
    • (1996) Genetics , vol.142 , pp. 91-102
    • Siede, W.1    Friedl, A.A.2    Dianova, I.3    Eckardt-Schupp, F.4    Friedberg, E.C.5
  • 19
    • 33744938713 scopus 로고    scopus 로고
    • Cernunnos interacts with the XRCC4/DNA ligase IV complex and is homologous to the yeast nonhomologous end-joining factor NEJ1
    • Callebaut I., Malivert L., Fischer A., Mornon J.P., Revy P., and Villartay J.P. Cernunnos interacts with the XRCC4/DNA ligase IV complex and is homologous to the yeast nonhomologous end-joining factor NEJ1. J. Biol. Chem. 281 (2006) 13857-13860
    • (2006) J. Biol. Chem. , vol.281 , pp. 13857-13860
    • Callebaut, I.1    Malivert, L.2    Fischer, A.3    Mornon, J.P.4    Revy, P.5    Villartay, J.P.6
  • 20
    • 0035899933 scopus 로고    scopus 로고
    • Nej1p, a cell type-specific regulator of nonhomologous end joining in yeast
    • Kegel A., Sjostrand J.O., and Astrom S.U. Nej1p, a cell type-specific regulator of nonhomologous end joining in yeast. Curr. Biol. 11 (2001) 1611-1617
    • (2001) Curr. Biol. , vol.11 , pp. 1611-1617
    • Kegel, A.1    Sjostrand, J.O.2    Astrom, S.U.3
  • 21
    • 0032536861 scopus 로고    scopus 로고
    • Components of the Ku-dependent non-homologous end-joining pathway are involved in telomeric length maintenance and telomeric silencing
    • Boulton S.J., and Jackson S.P. Components of the Ku-dependent non-homologous end-joining pathway are involved in telomeric length maintenance and telomeric silencing. EMBO J. 6 (1998) 1819-1828
    • (1998) EMBO J. , vol.6 , pp. 1819-1828
    • Boulton, S.J.1    Jackson, S.P.2
  • 22
    • 0029742576 scopus 로고    scopus 로고
    • Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair
    • Dolganov G.M., Maser R.S., Novikov A., Tosto L., Chong S., Bressan D.A., and Petrini J.H. Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair. Mol. Cell. Biol. 16 (1996) 4832-4841
    • (1996) Mol. Cell. Biol. , vol.16 , pp. 4832-4841
    • Dolganov, G.M.1    Maser, R.S.2    Novikov, A.3    Tosto, L.4    Chong, S.5    Bressan, D.A.6    Petrini, J.H.7
  • 24
    • 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 K.M., Chrzanowska K.H., Saar K., et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93 (1998) 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
  • 25
    • 2942674745 scopus 로고    scopus 로고
    • A Rad50-dependent pathway of DNA repair is deficient in Fanconi anemia fibroblasts
    • Donahue S.L., and Campbell C. A Rad50-dependent pathway of DNA repair is deficient in Fanconi anemia fibroblasts. Nucl. Acids Res. 32 (2004) 3245-3257
    • (2004) Nucl. Acids Res. , vol.32 , pp. 3245-3257
    • Donahue, S.L.1    Campbell, C.2
  • 26
    • 13444309097 scopus 로고    scopus 로고
    • Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking NBS 1
    • Reina-San-Martin B., Nussenzweig M.C., Nussenzweig A., and Difilippantonio S. Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking NBS 1. Proc. Natl Acad. Sci. USA 102 (2005) 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
  • 28
    • 0037099520 scopus 로고    scopus 로고
    • Deficient non-homologous end-joining activity in cell-free extracts from Brca1-null fibroblasts
    • Zhong Q., Boyer T.G., Chen P.-L., and Lee W.-H. Deficient non-homologous end-joining activity in cell-free extracts from Brca1-null fibroblasts. Cancer Res. 62 (2002) 3966-3970
    • (2002) Cancer Res. , vol.62 , pp. 3966-3970
    • Zhong, Q.1    Boyer, T.G.2    Chen, P.-L.3    Lee, W.-H.4
  • 29
    • 0035930342 scopus 로고    scopus 로고
    • Promotion of Dnl4-catalyzed DNA end-joining by the Rad50/Mre11/Xrs2 and Hdf1/Hdf2 complexes
    • Chen L., Trujillo K., Ramos W., Sung P., and Tompkinson A.E. Promotion of Dnl4-catalyzed DNA end-joining by the Rad50/Mre11/Xrs2 and Hdf1/Hdf2 complexes. Mol. Cell 8 (2001) 1105-1115
    • (2001) Mol. Cell , vol.8 , pp. 1105-1115
    • Chen, L.1    Trujillo, K.2    Ramos, W.3    Sung, P.4    Tompkinson, A.E.5
  • 30
    • 0036464515 scopus 로고    scopus 로고
    • Reconstitution of the mammalian DNA double-strand break end-joining reaction reveals a requirement for an Mre11/Rad50/Nbs1-containing fraction
    • Huang J., and Dynan W.S. Reconstitution of the mammalian DNA double-strand break end-joining reaction reveals a requirement for an Mre11/Rad50/Nbs1-containing fraction. Nucl. Acids Res. 30 (2002) 667-674
    • (2002) Nucl. Acids Res. , vol.30 , pp. 667-674
    • Huang, J.1    Dynan, W.S.2
  • 31
    • 30344432122 scopus 로고    scopus 로고
    • Impaired DNA double strand break repair in cells from Nijmegen breakage syndrome patients
    • Howlett N.G., Scuric Z., D'Andrea A.D., and Schiestl R.H. Impaired DNA double strand break repair in cells from Nijmegen breakage syndrome patients. DNA Repair 3 (2006) 251-257
    • (2006) DNA Repair , vol.3 , pp. 251-257
    • Howlett, N.G.1    Scuric, Z.2    D'Andrea, A.D.3    Schiestl, R.H.4
  • 33
    • 1942437416 scopus 로고    scopus 로고
    • Delineation of the role of the Mre11 complex in class switch recombination
    • Lahdesmaki A., Taylor A.M., Chrzanowska K.H., and Pan-Hammarstrom Q. Delineation of the role of the Mre11 complex in class switch recombination. J. Biol. Chem. 279 (2004) 16479-16487
    • (2004) J. Biol. Chem. , vol.279 , pp. 16479-16487
    • Lahdesmaki, A.1    Taylor, A.M.2    Chrzanowska, K.H.3    Pan-Hammarstrom, Q.4
  • 34
    • 22144485580 scopus 로고    scopus 로고
    • The MRE11-RAD50-NBS1 complex accelerates somatic hypermutation and gene conversion of immunoglobulin variable regions
    • Yabuki M., Fujii M.M., and Maizels N. The MRE11-RAD50-NBS1 complex accelerates somatic hypermutation and gene conversion of immunoglobulin variable regions. Nat. Immunol. 6 (2005) 730-736
    • (2005) Nat. Immunol. , vol.6 , pp. 730-736
    • Yabuki, M.1    Fujii, M.M.2    Maizels, N.3
  • 36
    • 20144369145 scopus 로고    scopus 로고
    • The MRE11-Rad50-XRX2 complex, in addition to other non-homologous end-joining factors, is required for V(D)J joining in yeast
    • Clatworthy A.E., Valencia-Burton M.A., Haber J.E., and Oettinger M.A. The MRE11-Rad50-XRX2 complex, in addition to other non-homologous end-joining factors, is required for V(D)J joining in yeast. J. Biol. Chem. 280 (2005) 20247-202452
    • (2005) J. Biol. Chem. , vol.280 , pp. 20247-202452
    • Clatworthy, A.E.1    Valencia-Burton, M.A.2    Haber, J.E.3    Oettinger, M.A.4
  • 38
    • 0036796260 scopus 로고    scopus 로고
    • DNA cross-link-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein
    • Pichierri P., Averbeck D., and Rosselli F. DNA cross-link-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein. Hum. Mol. Genet. 11 (2002) 2531-2546
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2531-2546
    • Pichierri, P.1    Averbeck, D.2    Rosselli, F.3
  • 39
    • 0023424487 scopus 로고
    • Developmental stage specificity of the lymphoid V(D)J recombination activity
    • Lieber M.R., Hesse J.E., Mizuuchi K., and Gellert M. Developmental stage specificity of the lymphoid V(D)J recombination activity. Genes Dev. 1 (1987) 751-761
    • (1987) Genes Dev. , vol.1 , pp. 751-761
    • Lieber, M.R.1    Hesse, J.E.2    Mizuuchi, K.3    Gellert, M.4
  • 40
    • 0027158024 scopus 로고
    • Unequal signal and coding joint formation in human V(D)J recombination
    • Gauss G., and Lieber M.R. Unequal signal and coding joint formation in human V(D)J recombination. Mol. Cell. Biol. 13 (1993) 3900-3906
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 3900-3906
    • Gauss, G.1    Lieber, M.R.2
  • 41
    • 0029655319 scopus 로고    scopus 로고
    • Mechanistic constraints on diversity in human V(D)J recombination
    • Gauss G.H., and Lieber M.R. Mechanistic constraints on diversity in human V(D)J recombination. Mol. Cell. Biol. 16 (1996) 258-269
    • (1996) Mol. Cell. Biol. , vol.16 , pp. 258-269
    • Gauss, G.H.1    Lieber, M.R.2
  • 42
    • 0042531939 scopus 로고    scopus 로고
    • Deficient regulation of DNA double-strand break repair in Fanconi anemia fibroblasts
    • Donahue S.L., Lundberg R., Saplis R., and Campbell C. Deficient regulation of DNA double-strand break repair in Fanconi anemia fibroblasts. J. Biol. Chem. 278 (2003) 29487-29495
    • (2003) J. Biol. Chem. , vol.278 , pp. 29487-29495
    • Donahue, S.L.1    Lundberg, R.2    Saplis, R.3    Campbell, C.4
  • 43
    • 0037195937 scopus 로고    scopus 로고
    • A DNA double strand break repair defect in Fanconi anemia fibroblasts
    • Donahue S.L., and Campbell C. A DNA double strand break repair defect in Fanconi anemia fibroblasts. J. Biol. Chem. 277 (2002) 29487-29495
    • (2002) J. Biol. Chem. , vol.277 , pp. 29487-29495
    • Donahue, S.L.1    Campbell, C.2
  • 44
    • 0030028557 scopus 로고    scopus 로고
    • Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele
    • Youssoufian H., Li Y., Martin M.E., and Buchwald M. Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. J. Clin. Invest. 97 (1996) 957-962
    • (1996) J. Clin. Invest. , vol.97 , pp. 957-962
    • Youssoufian, H.1    Li, Y.2    Martin, M.E.3    Buchwald, M.4
  • 47
    • 0030887862 scopus 로고    scopus 로고
    • Rag1 and Rag2 form a stable postcleavage synaptic complex with DNA containing signal ends in V(D)J recombination
    • Agrawal A., and Schatz D.G. Rag1 and Rag2 form a stable postcleavage synaptic complex with DNA containing signal ends in V(D)J recombination. Cell 89 (1997) 43-53
    • (1997) Cell , vol.89 , pp. 43-53
    • Agrawal, A.1    Schatz, D.G.2
  • 48
    • 0016373845 scopus 로고
    • Characterization of a newly derived human sarcoma cell line (HT-1080)
    • Rasheed S., Nelson-Rees W.A., Toth E.M., Arnstein P., and Gardner M.B. Characterization of a newly derived human sarcoma cell line (HT-1080). Cancer 33 (1974) 1027-1033
    • (1974) Cancer , vol.33 , pp. 1027-1033
    • Rasheed, S.1    Nelson-Rees, W.A.2    Toth, E.M.3    Arnstein, P.4    Gardner, M.B.5
  • 50
    • 4444227273 scopus 로고    scopus 로고
    • Intermediate DNA repair activity associated with the 322delG allele of the Fanconi anemia complementation group C gene
    • Donahue S.L., Lundberg R., and Campbell C. Intermediate DNA repair activity associated with the 322delG allele of the Fanconi anemia complementation group C gene. J. Mol. Biol. 342 (2004) 1433-1455
    • (2004) J. Mol. Biol. , vol.342 , pp. 1433-1455
    • Donahue, S.L.1    Lundberg, R.2    Campbell, C.3
  • 51
    • 0024846088 scopus 로고
    • The V(D)J recombination activating gene, RAG-1
    • Schatz D.G., Oettinger M.A., and Baltimore D. The V(D)J recombination activating gene, RAG-1. Cell 59 (1989) 1035-1048
    • (1989) Cell , vol.59 , pp. 1035-1048
    • Schatz, D.G.1    Oettinger, M.A.2    Baltimore, D.3
  • 52
    • 0025301095 scopus 로고
    • Rag-1 and Rag-2, adjacent genes that synergistically activate V(D)J recombination
    • Oettinger M.A., Schatz D.G., Gorka C., and Baltimore D. Rag-1 and Rag-2, adjacent genes that synergistically activate V(D)J recombination. Science 248 (1990) 1517-1523
    • (1990) Science , vol.248 , pp. 1517-1523
    • Oettinger, M.A.1    Schatz, D.G.2    Gorka, C.3    Baltimore, D.4
  • 53
    • 0025115324 scopus 로고
    • SV40 T antigen alone drives karyotype instability that precedes neoplastic transformation of human diploid fibroblasts
    • Ray F.A., Peabody D.S., Cooper J.L., Cram L.S., and Kraemer P.M. SV40 T antigen alone drives karyotype instability that precedes neoplastic transformation of human diploid fibroblasts. J. Cell BIochem. 42 (1990) 13-31
    • (1990) J. Cell BIochem. , vol.42 , pp. 13-31
    • Ray, F.A.1    Peabody, D.S.2    Cooper, J.L.3    Cram, L.S.4    Kraemer, P.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.