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Volumn 124, Issue 2, 2006, Pages 287-299

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA;

EID: 31044440630     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cell.2005.12.030     Document Type: Article
Times cited : (599)

References (46)
  • 1
    • 3242881313 scopus 로고    scopus 로고
    • The DNA double-strand break response in the nervous system
    • C.W. Abner, and P.J. McKinnon The DNA double-strand break response in the nervous system DNA Repair (Amst.) 3 2004 1141 1147
    • (2004) DNA Repair (Amst.) , vol.3 , pp. 1141-1147
    • Abner, C.W.1    McKinnon, P.J.2
  • 2
    • 31044432090 scopus 로고    scopus 로고
    • XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining
    • P. Ahnesorg, P. Smith, and S.P. Jackson XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining Cell 124 2006 301 313 this issue
    • (2006) Cell , vol.124 , pp. 301-313
    • Ahnesorg, P.1    Smith, P.2    Jackson, S.P.3
  • 3
    • 0030870904 scopus 로고    scopus 로고
    • A DNA double-strand break defective fibroblast cell line (180BR) derived from a radiosensitive patient represents a new mutant phenotype
    • C. Badie, M. Goodhardt, A. Waugh, N. Doyen, N. Foray, P. Calsou, B. Singleton, D. Gell, B. Salles, and P. Jeggo A DNA double-strand break defective fibroblast cell line (180BR) derived from a radiosensitive patient represents a new mutant phenotype Cancer Res. 57 1997 4600 4607
    • (1997) Cancer Res. , vol.57 , pp. 4600-4607
    • Badie, C.1    Goodhardt, M.2    Waugh, A.3    Doyen, N.4    Foray, N.5    Calsou, P.6    Singleton, B.7    Gell, D.8    Salles, B.9    Jeggo, P.10
  • 4
    • 0032585526 scopus 로고    scopus 로고
    • Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice
    • D.E. Barnes, G. Stamp, I. Rosewell, A. Denzel, and T. Lindahl Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice Curr. Biol. 8 1998 1395 1398
    • (1998) Curr. Biol. , vol.8 , pp. 1395-1398
    • Barnes, D.E.1    Stamp, G.2    Rosewell, I.3    Denzel, A.4    Lindahl, T.5
  • 5
    • 2442706035 scopus 로고    scopus 로고
    • H2AX may function as an anchor to hold broken chromosomal DNA ends in close proximity
    • C.H. Bassing, and F.W. Alt H2AX may function as an anchor to hold broken chromosomal DNA ends in close proximity Cell Cycle 3 2004 149 153
    • (2004) Cell Cycle , vol.3 , pp. 149-153
    • Bassing, C.H.1    Alt, F.W.2
  • 6
    • 0036240127 scopus 로고    scopus 로고
    • The mechanism and regulation of chromosomal V(D)J recombination
    • C.H. Bassing, W. Swat, and F.W. Alt The mechanism and regulation of chromosomal V(D)J recombination Cell 109 Suppl 2002 S45 S55
    • (2002) Cell , vol.109 , Issue.SUPPL.
    • Bassing, C.H.1    Swat, W.2    Alt, F.W.3
  • 7
    • 0032564469 scopus 로고    scopus 로고
    • DNA end-joining catalyzed by human cell-free extracts
    • P. Baumann, and S.C. West DNA end-joining catalyzed by human cell-free extracts Proc. Natl. Acad. Sci. USA 95 1998 14066 14070
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 14066-14070
    • Baumann, P.1    West, S.C.2
  • 8
    • 0030837472 scopus 로고    scopus 로고
    • V(D)J recombination in Ku86-deficient mice: Distinct effects on coding, signal, and hybrid joint formation
    • M.A. Bogue, C. Wang, C. Zhu, and D.B. Roth V(D)J recombination in Ku86-deficient mice: distinct effects on coding, signal, and hybrid joint formation Immunity 7 1997 37 47
    • (1997) Immunity , vol.7 , pp. 37-47
    • Bogue, M.A.1    Wang, C.2    Zhu, C.3    Roth, D.B.4
  • 10
    • 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
    • J.P. Carney, R.S. Maser, H. Olivares, E.M. Davis, M. Le Beau, J.R. Yates 3rd, L. Hays, W.F. Morgan, and J.H. Petrini The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response Cell 93 1998 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    Hays, L.7    Morgan, W.F.8    Petrini, J.H.9
  • 12
    • 0346244098 scopus 로고    scopus 로고
    • The mechanisms of immune diversification and their disorders
    • J.P. de Villartay, A. Fischer, and A. Durandy The mechanisms of immune diversification and their disorders Nat. Rev. Immunol. 3 2003 962 972
    • (2003) Nat. Rev. Immunol. , vol.3 , pp. 962-972
    • De Villartay, J.P.1    Fischer, A.2    Durandy, A.3
  • 14
    • 0042161806 scopus 로고    scopus 로고
    • Development of a rapid, small-scale DNA repair assay for use on clinical samples
    • C.P. Diggle, J. Bentley, and A.E. Kiltie Development of a rapid, small-scale DNA repair assay for use on clinical samples Nucleic Acids Res. 31 2003 e83
    • (2003) Nucleic Acids Res. , vol.31 , pp. 83
    • Diggle, C.P.1    Bentley, J.2    Kiltie, A.E.3
  • 15
    • 0028087777 scopus 로고
    • Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells
    • J.P. DiSanto, F. Rieux-Laucat, A. Dautry-Varsat, A. Fischer, and G. de Saint Basile Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells Proc. Natl. Acad. Sci. USA 91 1994 9466 9470
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 9466-9470
    • Disanto, J.P.1    Rieux-Laucat, F.2    Dautry-Varsat, A.3    Fischer, A.4    De Saint Basile, G.5
  • 16
    • 13444301307 scopus 로고    scopus 로고
    • Mechanism and control of V(D)J recombination versus class switch recombination: Similarities and differences
    • D.D. Dudley, J. Chaudhuri, C.H. Bassing, and F.W. Alt Mechanism and control of V(D)J recombination versus class switch recombination: similarities and differences Adv. Immunol. 86 2005 43 112
    • (2005) Adv. Immunol. , vol.86 , pp. 43-112
    • Dudley, D.D.1    Chaudhuri, J.2    Bassing, C.H.3    Alt, F.W.4
  • 17
    • 13144252181 scopus 로고    scopus 로고
    • Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects
    • A. Durandy, P. Revy, K. Imai, and A. Fischer Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects Immunol. Rev. 203 2005 67 79
    • (2005) Immunol. Rev. , vol.203 , pp. 67-79
    • Durandy, A.1    Revy, P.2    Imai, K.3    Fischer, A.4
  • 18
    • 0032052815 scopus 로고    scopus 로고
    • Interaction of Ku protein and DNA-dependent protein kinase catalytic subunit with nucleic acids
    • W.S. Dynan, and S. Yoo Interaction of Ku protein and DNA-dependent protein kinase catalytic subunit with nucleic acids Nucleic Acids Res. 26 1998 1551 1559
    • (1998) Nucleic Acids Res. , vol.26 , pp. 1551-1559
    • Dynan, W.S.1    Yoo, S.2
  • 19
    • 0035839840 scopus 로고    scopus 로고
    • DNA double strand break repair and chromosomal translocation: Lessons from animal models
    • D.O. Ferguson, and F.W. Alt DNA double strand break repair and chromosomal translocation: lessons from animal models Oncogene 20 2001 5572 5579
    • (2001) Oncogene , vol.20 , pp. 5572-5579
    • Ferguson, D.O.1    Alt, F.W.2
  • 21
    • 0035889233 scopus 로고    scopus 로고
    • NHEJ regulation by mating type is exercised through a novel protein, Lif2p, essential to the ligase IV pathway
    • M. Frank-Vaillant, and S. Marcand NHEJ regulation by mating type is exercised through a novel protein, Lif2p, essential to the ligase IV pathway Genes Dev. 15 2001 3005 3012
    • (2001) Genes Dev. , vol.15 , pp. 3005-3012
    • Frank-Vaillant, M.1    Marcand, S.2
  • 23
    • 0027397867 scopus 로고
    • The DNA-dependent protein kinase: Requirement for DNA ends and association with Ku antigen
    • T.M. Gottlieb, and S.P. Jackson The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen Cell 72 1993 131 142
    • (1993) Cell , vol.72 , pp. 131-142
    • Gottlieb, T.M.1    Jackson, S.P.2
  • 24
    • 0030743386 scopus 로고    scopus 로고
    • Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells
    • U. Grawunder, M. Wilm, X. Wu, P. Kulesza, T.E. Wilson, M. Mann, and M.R. Lieber Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells Nature 388 1997 492 495
    • (1997) Nature , vol.388 , pp. 492-495
    • Grawunder, U.1    Wilm, M.2    Wu, X.3    Kulesza, P.4    Wilson, T.E.5    Mann, M.6    Lieber, M.R.7
  • 25
    • 0035899933 scopus 로고    scopus 로고
    • Nej1p, a cell type-specific regulator of nonhomologous end joining in yeast
    • A. Kegel, J.O. Sjostrand, and S.U. Astrom 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
  • 26
    • 0037155703 scopus 로고    scopus 로고
    • Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination
    • Y. Ma, U. Pannicke, K. Schwarz, and M.R. Lieber Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination Cell 108 2002 781 794
    • (2002) Cell , vol.108 , pp. 781-794
    • Ma, Y.1    Pannicke, U.2    Schwarz, K.3    Lieber, M.R.4
  • 30
    • 0032541313 scopus 로고    scopus 로고
    • A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency
    • N. Nicolas, D. Moshous, M. Cavazzana-Calvo, D. Papadopoulo, R. de Chasseval, F. Le Deist, A. Fischer, and J.P. de Villartay A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency J. Exp. Med. 188 1998 627 634
    • (1998) J. Exp. Med. , vol.188 , pp. 627-634
    • Nicolas, N.1    Moshous, D.2    Cavazzana-Calvo, M.3    Papadopoulo, D.4    De Chasseval, R.5    Le Deist, F.6    Fischer, A.7    De Villartay, J.P.8
  • 32
    • 0035930651 scopus 로고    scopus 로고
    • A DNA microarray-based genetic screen for nonhomologous end-joining mutants in Saccharomyces cerevisiae
    • S.L. Ooi, D.D. Shoemaker, and J.D. Boeke A DNA microarray-based genetic screen for nonhomologous end-joining mutants in Saccharomyces cerevisiae Science 294 2001 2552 2556
    • (2001) Science , vol.294 , pp. 2552-2556
    • Ooi, S.L.1    Shoemaker, D.D.2    Boeke, J.D.3
  • 33
    • 1342300521 scopus 로고    scopus 로고
    • The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination
    • C. Poinsignon, D. Moshous, I. Callebaut, R. de Chasseval, I. Villey, and J.P. de Villartay The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination J. Exp. Med. 199 2004 315 321
    • (2004) J. Exp. Med. , vol.199 , pp. 315-321
    • Poinsignon, C.1    Moshous, D.2    Callebaut, I.3    De Chasseval, R.4    Villey, I.5    De Villartay, J.P.6
  • 34
    • 23644452672 scopus 로고    scopus 로고
    • The repair of DNA damages/modifications during the maturation of the immune system: Lessons from human primary immunodeficiency disorders and animal models
    • P. Revy, D. Buck, F. Le Deist, and J.P. De Villartay The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models Adv. Immunol. 87 2005 237 295
    • (2005) Adv. Immunol. , vol.87 , pp. 237-295
    • Revy, P.1    Buck, D.2    Le Deist, F.3    De Villartay, J.P.4
  • 36
    • 0035903103 scopus 로고    scopus 로고
    • Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity
    • E. Riballo, A.J. Doherty, Y. Dai, T. Stiff, M.A. Oettinger, P.A. Jeggo, and B. Kysela Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity J. Biol. Chem. 276 2001 31124 31132
    • (2001) J. Biol. Chem. , vol.276 , pp. 31124-31132
    • Riballo, E.1    Doherty, A.J.2    Dai, Y.3    Stiff, T.4    Oettinger, M.A.5    Jeggo, P.A.6    Kysela, B.7
  • 37
    • 0032544024 scopus 로고    scopus 로고
    • Consistent, persistent expression from modified retroviral vectors in murine hematopoietic stem cells
    • P.B. Robbins, D.C. Skelton, X.J. Yu, S. Halene, E.H. Leonard, and D.B. Kohn Consistent, persistent expression from modified retroviral vectors in murine hematopoietic stem cells Proc. Natl. Acad. Sci. USA 95 1998 10182 10187
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 10182-10187
    • Robbins, P.B.1    Skelton, D.C.2    Yu, X.J.3    Halene, S.4    Leonard, E.H.5    Kohn, D.B.6
  • 38
    • 0032489520 scopus 로고    scopus 로고
    • DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139
    • E.P. Rogakou, D.R. Pilch, A.H. Orr, V.S. Ivanova, and W.M. Bonner DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139 J. Biol. Chem. 273 1998 5858 5868
    • (1998) J. Biol. Chem. , vol.273 , pp. 5858-5868
    • Rogakou, E.P.1    Pilch, D.R.2    Orr, A.H.3    Ivanova, V.S.4    Bonner, W.M.5
  • 41
  • 46
    • 0033515426 scopus 로고    scopus 로고
    • Phosphorylation of histone H3 is required for proper chromosome condensation and segregation
    • Y. Wei, L. Yu, J. Bowen, M.A. Gorovsky, and C.D. Allis Phosphorylation of histone H3 is required for proper chromosome condensation and segregation Cell 97 1999 99 109
    • (1999) Cell , vol.97 , pp. 99-109
    • Wei, Y.1    Yu, L.2    Bowen, J.3    Gorovsky, M.A.4    Allis, C.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.