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Volumn 291, Issue 1, 2003, Pages 122-134

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

Author keywords

Chromatin disorganization; Familial partial lipodystrophy; Gene transcription; Intranuclear lamin A C speckles; Lamin A C; Lamin emerin interaction

Indexed keywords

DNA; EMERIN; INSULIN; LAMIN A; LAMIN C; RNA; URIDINE DERIVATIVE;

EID: 0242365630     PISSN: 00144827     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0014-4827(03)00395-1     Document Type: Article
Times cited : (76)

References (49)
  • 2
    • 0035090666 scopus 로고    scopus 로고
    • Molecular basis of partial lipodystrophy and prospects for therapy
    • Hegele R.A. Molecular basis of partial lipodystrophy and prospects for therapy. Trends Mol. Med. 7:2001;121-126.
    • (2001) Trends Mol. Med. , vol.7 , pp. 121-126
    • Hegele, R.A.1
  • 5
    • 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 (LGMD1B)
    • Muchir A., Bonne G., van der Kooi A.J., van Meegen M., Baas F., Bolhuis P.A., deVisser M., Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum. Mol. Genet. 9:2000;1453-1459.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van Der Kooi, A.J.3    Van Meegen, M.4    Baas, F.5    Bolhuis, P.A.6    DeVisser, M.7    Schwartz, K.8
  • 11
    • 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. Hegele, R.A. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J. Hum. Genet. 48 (2003) 271-274.
    • (2003) J. Hum. Genet. , vol.48 , pp. 271-274
    • Cao, H.1    Hegele, R.A.2
  • 12
    • 0024389951 scopus 로고
    • Expression of nuclear lamin A and muscle-specific proteins in differentiating muscle cells in ovo and in vitro
    • Lourim D., Lin J.J. Expression of nuclear lamin A and muscle-specific proteins in differentiating muscle cells in ovo and in vitro. J Cell Biol. 109:1989;495-504.
    • (1989) J Cell Biol. , vol.109 , pp. 495-504
    • Lourim, D.1    Lin, J.J.2
  • 14
    • 0024561417 scopus 로고
    • Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: A developmental study
    • Rober R.A., Weber K., Osborn M. Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal a developmental study . Development. 105:1989;365-378.
    • (1989) Development , vol.105 , pp. 365-378
    • Rober, R.A.1    Weber, K.2    Osborn, M.3
  • 15
    • 0035881603 scopus 로고    scopus 로고
    • Nuclear envelope and chromatin compositional differences comparing undifferentiated and retinoic acid- and phorbol ester-treated HL-60 cells
    • Olins A.L., Herrmann H., Lichter P., Kratzmeier M., Doenecke D., Olins D.E. Nuclear envelope and chromatin compositional differences comparing undifferentiated and retinoic acid- and phorbol ester-treated HL-60 cells. Exp. Cell Res. 268:2001;115-127.
    • (2001) Exp. Cell Res. , vol.268 , pp. 115-127
    • Olins, A.L.1    Herrmann, H.2    Lichter, P.3    Kratzmeier, M.4    Doenecke, D.5    Olins, D.E.6
  • 16
    • 0036347096 scopus 로고    scopus 로고
    • Life at the edge: The nuclear envelope and human disease
    • Burke B., Stewart C.L. Life at the edge the nuclear envelope and human disease . Nature Rev. Mol. Cell Biol. 3:2002;575-585.
    • (2002) Nature Rev. Mol. Cell Biol. , vol.3 , pp. 575-585
    • Burke, B.1    Stewart, C.L.2
  • 19
    • 0032771080 scopus 로고    scopus 로고
    • The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane
    • Fairley E.A., Kendrick-Jones J., Ellis J.A. The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. J. Cell Sci. 112:1999;2571-2582.
    • (1999) J. Cell Sci. , vol.112 , pp. 2571-2582
    • Fairley, E.A.1    Kendrick-Jones, J.2    Ellis, J.A.3
  • 22
    • 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., Wilson K.L. Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF. J. Cell Sci. 114:2001;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
  • 24
    • 0035691915 scopus 로고    scopus 로고
    • Nuclear envelope disorganization 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., Buendia B. Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. J. Cell Sci. 114:2001;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
  • 26
    • 0037128211 scopus 로고    scopus 로고
    • Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription
    • Spann T.S., Goldman A.E., Wang C., Huang S., Goldman R.D. Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription. J. Cell Biol. 156:2002;603-608.
    • (2002) J. Cell Biol. , vol.156 , pp. 603-608
    • Spann, T.S.1    Goldman, A.E.2    Wang, C.3    Huang, S.4    Goldman, R.D.5
  • 27
    • 0037049554 scopus 로고    scopus 로고
    • Lamin A/C speckles mediate spatial organization of splicing factor compartments and RNA polymerase II transcription
    • Kumaran R.I., Muralikrishna B., Parnaik V.K. Lamin A/C speckles mediate spatial organization of splicing factor compartments and RNA polymerase II transcription. J. Cell Biol. 159:2002;783-793.
    • (2002) J. Cell Biol. , vol.159 , pp. 783-793
    • Kumaran, R.I.1    Muralikrishna, B.2    Parnaik, V.K.3
  • 28
    • 0036537888 scopus 로고    scopus 로고
    • A novel interaction between lamin A and SREBP1: Implications for partial lipodystrophy and other laminopathies
    • Lloyd D.J., Trembath R.C., Shackleton S. A novel interaction between lamin A and SREBP1 implications for partial lipodystrophy and other laminopathies . Hum. Mol. Genet. 11:2002;769-777.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 769-777
    • Lloyd, D.J.1    Trembath, R.C.2    Shackleton, S.3
  • 30
    • 0037447893 scopus 로고    scopus 로고
    • Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in Hela cells
    • Bechert K., Lagos-Quintana M., Harborth J., Weber K., Osborn M. Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in Hela cells. Exp. Cell Res. 286:2003;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
  • 31
    • 0027416334 scopus 로고
    • Internal lamin structures within G1 nuclei of human dermal fibroblasts
    • Bridger J.M., Kill I.R., O'Farrell M., Hutchison C.J. Internal lamin structures within G1 nuclei of human dermal fibroblasts. J. Cell Sci. 104:1993;297-306.
    • (1993) J. Cell Sci. , vol.104 , pp. 297-306
    • Bridger, J.M.1    Kill, I.R.2    O'Farrell, M.3    Hutchison, C.J.4
  • 32
    • 0031550237 scopus 로고    scopus 로고
    • Cell cycle-dependent regulation of the mouse DNA topoisomerase IIalpha gene promoter
    • Adachi N., Kobayashi M., Koyama H. Cell cycle-dependent regulation of the mouse DNA topoisomerase IIalpha gene promoter. Biochem. Biophys. Res. Commun. 230:1997;105-109.
    • (1997) Biochem. Biophys. Res. Commun. , vol.230 , pp. 105-109
    • Adachi, N.1    Kobayashi, M.2    Koyama, H.3
  • 36
    • 1842376906 scopus 로고    scopus 로고
    • The dynamics of a pre-mRNA splicing f factor in living cells
    • Misteli T., Caceres J.F., Spector D.L. The dynamics of a pre-mRNA splicing f factor in living cells. Nature. 387:1997;523-527.
    • (1997) Nature , vol.387 , pp. 523-527
    • Misteli, T.1    Caceres, J.F.2    Spector, D.L.3
  • 38
    • 0034987343 scopus 로고    scopus 로고
    • The HIV protease inhibitor indinavir impairs sterol regulatory element-binding protein-1 intranuclear localization, inhibits preadipocyte differentiation, and induces insulin resistance
    • Caron M., Auclair M., Vigouroux C., Glorian M., Forest C., Capeau J. The HIV protease inhibitor indinavir impairs sterol regulatory element-binding protein-1 intranuclear localization, inhibits preadipocyte differentiation, and induces insulin resistance. Diabetes. 50:2001;1378-1388.
    • (2001) Diabetes , vol.50 , pp. 1378-1388
    • Caron, M.1    Auclair, M.2    Vigouroux, C.3    Glorian, M.4    Forest, C.5    Capeau, J.6
  • 40
    • 0035084090 scopus 로고    scopus 로고
    • The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin
    • Holt I., Clements L., Manilal S., Brown S.C., Morris G.E. The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin. Eur. J. Hum. Genet. 9:2001;204-208.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 204-208
    • Holt, I.1    Clements, L.2    Manilal, S.3    Brown, S.C.4    Morris, G.E.5
  • 41
    • 0035696932 scopus 로고    scopus 로고
    • B. Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy
    • W., Raharjo, R., Enarson, P., Sullivan, T., Stewart, C.L., Burke, B. Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. J. Cell Sci. 1142001 4447-4457.
    • (2001) J. Cell Sci. , vol.114 , pp. 4447-4457
    • Raharjo, W.1    Enarson, R.2    Sullivan, P.3    Stewart, T.4    Burke, C.L.5
  • 45
    • 0036848357 scopus 로고    scopus 로고
    • In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C
    • Dreuillet C., Tillit J., Kress M., Ernoult-Lange M. In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C. Nucleic Acids Res. 30:2002;4634-4642.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 4634-4642
    • Dreuillet, C.1    Tillit, J.2    Kress, M.3    Ernoult-Lange, M.4
  • 46
    • 0036263036 scopus 로고    scopus 로고
    • CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy
    • Tsukahara T., Tsujino S., Arahata K. cDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. Muscle Nerve. 25:2002;898-901.
    • (2002) Muscle Nerve , vol.25 , pp. 898-901
    • Tsukahara, T.1    Tsujino, S.2    Arahata, K.3
  • 47
    • 0034176682 scopus 로고    scopus 로고
    • The nuclear envelope, muscular dystrophy and gene expression
    • Wilson K.L. The nuclear envelope, muscular dystrophy and gene expression. Trends Cell Biol. 10:2000;125-129.
    • (2000) Trends Cell Biol. , vol.10 , pp. 125-129
    • Wilson, K.L.1
  • 48
    • 0036843975 scopus 로고    scopus 로고
    • Lamins: Building blocks or regulators of gene expression?
    • Hutchison C.J. Lamins building blocks or regulators of gene expression? Nature Rev. Mol. Cell Biol. 3:2002;848-858.
    • (2002) Nature Rev. Mol. Cell Biol. , vol.3 , pp. 848-858
    • Hutchison, C.J.1
  • 49
    • 0036894397 scopus 로고    scopus 로고
    • PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy
    • Hegele R.A., Cao H., Frankowski C., Mathews S.T., Leff T. PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes. 51:2002;3586-3590.
    • (2002) Diabetes , vol.51 , pp. 3586-3590
    • Hegele, R.A.1    Cao, H.2    Frankowski, C.3    Mathews, S.T.4    Leff, T.5


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