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Volumn 119, Issue 13, 2006, Pages 2704-2714

Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci

Author keywords

ATR kinase; DNA repair; Emerin; Laminopathies; Nuclear lamina; Phosphorylated H2AX

Indexed keywords

ATR PROTEIN; CISPLATIN; COMPLEMENTARY DNA; EMERIN; GREEN FLUORESCENT PROTEIN; LAMIN A; MUTANT PROTEIN;

EID: 33746883839     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: 10.1242/jcs.03009     Document Type: Article
Times cited : (131)

References (66)
  • 1
    • 0035449355 scopus 로고    scopus 로고
    • Cell cycle checkpoint signalling through the ATM and ATR kinases
    • Abraham, R. T. (2001). Cell cycle checkpoint signalling through the ATM and ATR kinases. Genes Dev. 15, 2177-2196.
    • (2001) Genes Dev. , vol.15 , pp. 2177-2196
    • Abraham, R.T.1
  • 3
    • 0037472924 scopus 로고    scopus 로고
    • DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
    • Bakkenist, C. I and Kastan, M. B. (2003). DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 422, 499-506.
    • (2003) Nature , vol.422 , pp. 499-506
    • Bakkenist, C.I.1    Kastan, M.B.2
  • 4
    • 5044220936 scopus 로고    scopus 로고
    • Checking on DNA damage in S phase
    • Bartek, J., Lukas, C. and Lukas, J. (2004). Checking on DNA damage in S phase. Nature 5, 792-804.
    • (2004) Nature , vol.5 , pp. 792-804
    • Bartek, J.1    Lukas, C.2    Lukas, J.3
  • 5
    • 0037447893 scopus 로고    scopus 로고
    • Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystropby in HeLa cells
    • Bechert, K., Lagos-Quintana, M., Harborth, J., Weber, K. and Osborn, M. (2003). Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystropby in HeLa cells. Exp. Cell Res. 286, 75-86.
    • (2003) Exp. Cell Res. , vol.286 , pp. 75-86
    • Bechert, K.1    Lagos-Quintana, M.2    Harborth, J.3    Weber, K.4    Osborn, M.5
  • 7
    • 0033865686 scopus 로고    scopus 로고
    • Clinical and molecular genetic spectrum of autosomal dominant Emery Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    • Bonne, G., Mercuri, E., Muchir, A., Urtiziberea, A., Becane, H. M., Reca, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U. et al. (2000). Clinical and molecular genetic spectrum of autosomal dominant Emery Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann. Neurol. 48, 170-180.
    • (2000) Ann. Neurol. , vol.48 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3    Urtiziberea, A.4    Becane, H.M.5    Reca, D.6    Merlini, L.7    Wehnert, M.8    Boor, R.9    Reuner, U.10
  • 10
    • 14644442325 scopus 로고    scopus 로고
    • Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization
    • Broers, J. L. V., Kuijpers, H. J. H., Östlund, C., Worman, H. J., Endert, J. and Ramaekers, F. C. S. (2005). Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization. Exp. Cell Res. 304, 582-592.
    • (2005) Exp. Cell Res. , vol.304 , pp. 582-592
    • Broers, J.L.V.1    Kuijpers, H.J.H.2    Östlund, C.3    Worman, H.J.4    Endert, J.5    Ramaekers, F.C.S.6
  • 11
    • 0037335861 scopus 로고    scopus 로고
    • Essential and dispensable roles of ATR in cell cycle arrest and genome maintenance
    • Brown, E. J. and Baltimore, D. (2003). Essential and dispensable roles of ATR in cell cycle arrest and genome maintenance. Genes Dev. 17, 615-628.
    • (2003) Genes Dev. , vol.17 , pp. 615-628
    • Brown, E.J.1    Baltimore, D.2
  • 12
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type fantlial partial lipodystrophy
    • Cao, H. and Hegele, R. A. (2000). Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type fantlial partial lipodystrophy. Hum. Mol. Genet. 9,109-112.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 13
    • 0038376023 scopus 로고    scopus 로고
    • LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
    • Cao, H. and Hegele, R. A. (2003). LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J. Hum. Genet. 48, 271-274.
    • (2003) J. Hum. Genet. , vol.48 , pp. 271-274
    • Cao, H.1    Hegele, R.A.2
  • 14
    • 0242365630 scopus 로고    scopus 로고
    • Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: Altered intermolecular interaction with emerin and implications for gene transcription
    • Capanni, C., Cenni, V., Mattioli, E., Sabatelli, P., Ognibene, A., Columbaro, M., Parnaik, V. K., Wehnert, M., Maraldi, N. M., Squarzoni, S. et al. (2003). Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: Altered intermolecular interaction with emerin and implications for gene transcription. Exp. Cell Res. 291, 122-134.
    • (2003) Exp. Cell Res. , vol.291 , pp. 122-134
    • Capanni, C.1    Cenni, V.2    Mattioli, E.3    Sabatelli, P.4    Ognibene, A.5    Columbaro, M.6    Parnaik, V.K.7    Wehnert, M.8    Maraldi, N.M.9    Squarzoni, S.10
  • 18
    • 0032472330 scopus 로고    scopus 로고
    • Overexpression of a kinase-inactive ATR protein causes sensitivity to DNA-damaging agents and defects in cell cycle checkpoints
    • Cliby, W. A., Roberts, C. J., Cimprich, K. A., Stringer, C. M., Lamb, J. R., Schreiber, S. L. and Friend, S. H. (1998). Overexpression of a kinase-inactive ATR protein causes sensitivity to DNA-damaging agents and defects in cell cycle checkpoints. EMBO J. 17, 159-169.
    • (1998) EMBO J. , vol.17 , pp. 159-169
    • Cliby, W.A.1    Roberts, C.J.2    Cimprich, K.A.3    Stringer, C.M.4    Lamb, J.R.5    Schreiber, S.L.6    Friend, S.H.7
  • 19
    • 0035146907 scopus 로고    scopus 로고
    • Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina
    • Cohen, M., Lee, K. K., Wilson, K. L. and Gruenbaum, Y. (2001). Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina. Trends Biochem. Sci. 26, 41-47.
    • (2001) Trends Biochem. Sci. , vol.26 , pp. 41-47
    • Cohen, M.1    Lee, K.K.2    Wilson, K.L.3    Gruenbaum, Y.4
  • 20
    • 8344274464 scopus 로고    scopus 로고
    • Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading tomesodermal/mesenchymal defects and accelerated atherosclerosis
    • Csoka, A. B., English, S. B., Simkevich, C. P., Ginzinger, D. G., Butte, A. J., Schatten, G. P., Rothman, F. G. and Sedivy, J. M. (2004). Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading tomesodermal/mesenchymal defects and accelerated atherosclerosis. Aging Cell 3, 235-243.
    • (2004) Aging Cell , vol.3 , pp. 235-243
    • Csoka, A.B.1    English, S.B.2    Simkevich, C.P.3    Ginzinger, D.G.4    Butte, A.J.5    Schatten, G.P.6    Rothman, F.G.7    Sedivy, J.M.8
  • 24
  • 27
    • 0842347426 scopus 로고    scopus 로고
    • Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts
    • Favreau, C., Higuet, D., Courvalin, J.-C. and Buendia, B. (2004). Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. Mol. Cell. Biol. 24, 1481-1492.
    • (2004) Mol. Cell. Biol. , vol.24 , pp. 1481-1492
    • Favreau, C.1    Higuet, D.2    Courvalin, J.-C.3    Buendia, B.4
  • 31
    • 0034312277 scopus 로고    scopus 로고
    • Requirement of ATR in phosphorylation of Chk1 and cell cycle regulation in response to DNA replication blocks and LTV-damaged DNA in Xenopus egg extracts
    • Guo, Z., Kumagai, A., Wang, S. X. and Dunphy, W. G. (2000). Requirement of ATR in phosphorylation of Chk1 and cell cycle regulation in response to DNA replication blocks and LTV-damaged DNA in Xenopus egg extracts. Genes Dev. 14, 2745-2756.
    • (2000) Genes Dev. , vol.14 , pp. 2745-2756
    • Guo, Z.1    Kumagai, A.2    Wang, S.X.3    Dunphy, W.G.4
  • 32
    • 0043172367 scopus 로고    scopus 로고
    • Effect of pathogenic missense mutations in lamin A on its interaction with emerin in vivo
    • Holt, L, Östlund, C., Stewart, C. L., Man, N. T., Worman, H. J. and Morris, G. E. (2003). Effect of pathogenic missense mutations in lamin A on its interaction with emerin in vivo. J. Cell Sci. 116, 3027-3035.
    • (2003) J. Cell Sci. , vol.116 , pp. 3027-3035
    • Holt, L.1    Östlund, C.2    Stewart, C.L.3    Man, N.T.4    Worman, H.J.5    Morris, G.E.6
  • 33
    • 7944219648 scopus 로고    scopus 로고
    • A-type lamins: Guardians of the soma?
    • Hutchison, C. J. and Worman, H. J. (2004). A-type lamins: guardians of the soma? Nat. Cell Biol. 6, 1062-1067.
    • (2004) Nat. Cell Biol. , vol.6 , pp. 1062-1067
    • Hutchison, C.J.1    Worman, H.J.2
  • 35
    • 0037049554 scopus 로고    scopus 로고
    • Lamin A/C speckles mediate spatial organisation of splicing factor compartments and RNA polymerase II transcription
    • Kumaran, R. I, Muralikrishna, B. and Parnaik, V. K. (2002). Lamin A/C speckles mediate spatial organisation of splicing factor compartments and RNA polymerase II transcription. J. Cell Biol. 159, 783-793.
    • (2002) J. Cell Biol. , vol.159 , pp. 783-793
    • Kumaran, R.I.1    Muralikrishna, B.2    Parnaik, V.K.3
  • 37
    • 0035694820 scopus 로고    scopus 로고
    • Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF
    • Lee, K. K., Haraguchi, T., Lee, R. S., Koujin, T., Hiraoka, Y. and Wilson, K. L. (2001). Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF. J. Cell Sci. 114, 4567-4573.
    • (2001) J. Cell Sci. , vol.114 , pp. 4567-4573
    • Lee, K.K.1    Haraguchi, T.2    Lee, R.S.3    Koujin, T.4    Hiraoka, Y.5    Wilson, K.L.6
  • 39
    • 16344380741 scopus 로고    scopus 로고
    • Sequestration of pRb by cyclin D3 causes intranuclear reorganization of lamin A/C during muscle cell differentiation
    • Mariappan, I. and Parnaik, V. K. (2005). Sequestration of pRb by cyclin D3 causes intranuclear reorganization of lamin A/C during muscle cell differentiation. Mol. Biol. Cell 16, 1948-1960.
    • (2005) Mol. Biol. Cell , vol.16 , pp. 1948-1960
    • Mariappan, I.1    Parnaik, V.K.2
  • 40
    • 0034640884 scopus 로고    scopus 로고
    • Disruption of nuclear lamin organization blocks the elongation phase of DNA replication
    • Moir, R. D., Spann, T. F., Herrmann, H. and Goldman, R. D. (2000a). Disruption of nuclear lamin organization blocks the elongation phase of DNA replication. J. Cell Biol. 149, 1179-1192.
    • (2000) J. Cell Biol. , vol.149 , pp. 1179-1192
    • Moir, R.D.1    Spann, T.F.2    Herrmann, H.3    Goldman, R.D.4
  • 41
    • 0034638842 scopus 로고    scopus 로고
    • Nuclear lamins A and B1: Different pathways of assembly during nuclear envelope formation in living cells
    • Moir, R. D., Yoon, M., Khuon, S. and Goldman, R. D. (2000b). Nuclear lamins A and B1: different pathways of assembly during nuclear envelope formation in living cells. J. Cell Biol. 151, 1155-1168.
    • (2000) J. Cell Biol. , vol.151 , pp. 1155-1168
    • Moir, R.D.1    Yoon, M.2    Khuon, S.3    Goldman, R.D.4
  • 42
    • 0037673940 scopus 로고    scopus 로고
    • A progeroid syndrome in mice is caused by defects in A-type lamins
    • Mounkes, L. C., Kozlov, S., Hernandez, L, Sullivan, T. and Stewart, C. L. (2003). A progeroid syndrome in mice is caused by defects in A-type lamins. Nature 423, 298-301.
    • (2003) Nature , vol.423 , pp. 298-301
    • Mounkes, L.C.1    Kozlov, S.2    Hernandez, L.3    Sullivan, T.4    Stewart, C.L.5
  • 43
    • 26444595257 scopus 로고    scopus 로고
    • Expression of a LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice
    • Mounkes, L. C., Kozlov, S. V., Rottman, J. N. and Stewart, C. L. (2005). Expression of a LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. Hum. Mol. Genet. 14, 2167-2180.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 2167-2180
    • Mounkes, L.C.1    Kozlov, S.V.2    Rottman, J.N.3    Stewart, C.L.4
  • 44
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances
    • Muchir, A., Bonne, G., van der Kooi, A. J., van Meegan, M., Baas, F., Bolhuis, P. A., de Visser, M. and Schwartz, K. (2000). Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances. Hum. Mol. Genet. 9, 1453-1459.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.J.3    van Meegan, M.4    Baas, F.5    Bolhuis, P.A.6    de Visser, M.7    Schwartz, K.8
  • 48
    • 0345073699 scopus 로고    scopus 로고
    • A splicing mutation affecting expression of Ataxia-telangiectasia-and-Rad3-related protein (ATR) results in Socket syndrome
    • O'Driscoll, M., Ruiz-Perez, V. L., Woods, C. G., Jeggo, P. A. and Goodship, J. A. (2003). A splicing mutation affecting expression of Ataxia-telangiectasia-and-Rad3-related protein (ATR) results in Socket syndrome. Nat. Genet. 33, 497-501.
    • (2003) Nat. Genet. , vol.33 , pp. 497-501
    • O'Driscoll, M.1    Ruiz-Perez, V.L.2    Woods, C.G.3    Jeggo, P.A.4    Goodship, J.A.5
  • 49
    • 0035697055 scopus 로고    scopus 로고
    • Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
    • Östlund, C., Bonne, G., Schwartz, K. and Worman, H. J. (2001). Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy~ J. Cell Sci. 114, 4435-4445.
    • (2001) J. Cell Sci. , vol.114 , pp. 4435-4445
    • Östlund, C.1    Bonne, G.2    Schwartz, K.3    Worman, H.J.4
  • 50
    • 0035696932 scopus 로고    scopus 로고
    • Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy
    • Raharjo, W. H., Enarson, P., Sullivan, T., Stewart, C. L. and Burke, B. (2001). Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. J. Cell Sci. 114, 4447-4457.
    • (2001) J. Cell Sci. , vol.114 , pp. 4447-4457
    • Raharjo, W.H.1    Enarson, P.2    Sullivan, T.3    Stewart, C.L.4    Burke, B.5
  • 51
    • 0035972194 scopus 로고    scopus 로고
    • Tumor suppressor p53 binding protein 1 (53BP1) is involved in DNA damage signalling pathways
    • Rappold, L, Iwabuchi, K., Date, T. and Chen, J. (200 1). Tumor suppressor p53 binding protein 1 (53BP1) is involved in DNA damage signalling pathways. J. Cell Biol. 153, 613-620.
    • (2001) J. Cell Biol. , vol.153 , pp. 613-620
    • Rappold, L.1    Iwabuchi, K.2    Date, T.3    Chen, J.4
  • 53
    • 17644373758 scopus 로고    scopus 로고
    • Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome
    • Scaffidi, F. and Misteli, T. (2005). Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat. Med. 11, 440-445.
    • (2005) Nat. Med. , vol.11 , pp. 440-445
    • Scaffidi, F.1    Misteli, T.2
  • 55
    • 0037365789 scopus 로고    scopus 로고
    • ATM and related protein kinases: Safeguarding genome integrity
    • Shiloh, Y. (2003). ATM and related protein kinases: safeguarding genome integrity. Nat. Rev. Cancer 3, 155-168.
    • (2003) Nat. Rev. Cancer , vol.3 , pp. 155-168
    • Shiloh, Y.1
  • 56
    • 0037128211 scopus 로고    scopus 로고
    • Alteration of nuclear lamin organisation inhibits RNA polymerase II-dependent transcription
    • Spann, T. P., Goldman, A. E., Wang, C., Huang, S. and Goldman, R. D. (2002). Alteration of nuclear lamin organisation inhibits RNA polymerase II-dependent transcription. J. Cell Biol. 156, 603-608.
    • (2002) J. Cell Biol. , vol.156 , pp. 603-608
    • Spann, T.P.1    Goldman, A.E.2    Wang, C.3    Huang, S.4    Goldman, R.D.5
  • 57
    • 0031686054 scopus 로고    scopus 로고
    • Nuclear lamins: Their structure, assembly and interactions
    • Stuurman, N., Heins, S. and Aebi, U. (1998). Nuclear lamins: their structure, assembly and interactions. J. Struct. Biol. 122, 42-66.
    • (1998) J. Struct. Biol. , vol.122 , pp. 42-66
    • Stuurman, N.1    Heins, S.2    Aebi, U.3
  • 61
    • 0035691915 scopus 로고    scopus 로고
    • Nuclear envelope disorganisation in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene
    • Vigouroux, C., Auclair, M., Dubosclard, E., Pouchelet, M., Capeau, J., Courvalin, J. C. and Buendia, B. (2001). Nuclear envelope disorganisation in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. J. Cell Sci. 114, 4459-4468.
    • (2001) J. Cell Sci. , vol.114 , pp. 4459-4468
    • Vigouroux, C.1    Auclair, M.2    Dubosclard, E.3    Pouchelet, M.4    Capeau, J.5    Courvalin, J.C.6    Buendia, B.7
  • 62
    • 0035930537 scopus 로고    scopus 로고
    • Histone H2AX is phosphorylated in an ATR-dependent manner in response to replicational stress
    • Ward, I. M. and Chen, J. (2001). Histone H2AX is phosphorylated in an ATR-dependent manner in response to replicational stress. J. Biol. Chem. 276, 47759-47762.
    • (2001) J. Biol. Chem. , vol.276 , pp. 47759-47762
    • Ward, I.M.1    Chen, J.2
  • 63
    • 0038143321 scopus 로고    scopus 로고
    • Accumulation of checkpoint protein 53BP1 at DNA breaks involves its binding to phosphorylated histone H2AX
    • Ward, I. M., Minn, K., Jorda, K. G. and Chen, J. (2003). Accumulation of checkpoint protein 53BP1 at DNA breaks involves its binding to phosphorylated histone H2AX. J. Biol. Chem. 278, 19579-19582.
    • (2003) J. Biol. Chem. , vol.278 , pp. 19579-19582
    • Ward, I.M.1    Minn, K.2    Jorda, K.G.3    Chen, J.4
  • 64
    • 0034176682 scopus 로고    scopus 로고
    • The nuclear envelope, muscular dystrophy and gene expression
    • Wilson, K. (2000). The nuclear envelope, muscular dystrophy and gene expression. Trends Cell Biol. 10, 125-129.
    • (2000) Trends Cell Biol. , vol.10 , pp. 125-129
    • Wilson, K.1
  • 65
    • 0036899615 scopus 로고    scopus 로고
    • The nuclear lamina and inherited disease
    • Worman, H. J. and Courvalin, J. C. (2002). The nuclear lamina and inherited disease. Trends Cell Biol. 12, 591-598.
    • (2002) Trends Cell Biol. , vol.12 , pp. 591-598
    • Worman, H.J.1    Courvalin, J.C.2
  • 66
    • 0034707047 scopus 로고    scopus 로고
    • The DNA damage response, putting checkpoints in perspective
    • Zhou, B. B. and Elledge, S. J. (2000). The DNA damage response, putting checkpoints in perspective. Nature 408, 433-439.
    • (2000) Nature , vol.408 , pp. 433-439
    • Zhou, B.B.1    Elledge, S.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.