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Volumn 18, Issue 5, 1999, Pages 1357-1366

Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH

Author keywords

Cockayne syndrome; Helicase; Nucleotide excision repair; Transcription factor IIH; Xeroderma pigmentosum

Indexed keywords

HELICASE;

EID: 0033104514     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/18.5.1357     Document Type: Article
Times cited : (171)

References (40)
  • 1
    • 0029203732 scopus 로고
    • Synthesis and maturation of viral transcripts in herpes simplex virus type 1 infected HeLa cells: The role of interchromatin granules
    • Besse, S., Vigneron, M., Pichard, E. and Puvion-Dutilleul, F. (1995) Synthesis and maturation of viral transcripts in herpes simplex virus type 1 infected HeLa cells: the role of interchromatin granules. Gene Expr., 4, 143-161.
    • (1995) Gene Expr. , vol.4 , pp. 143-161
    • Besse, S.1    Vigneron, M.2    Pichard, E.3    Puvion-Dutilleul, F.4
  • 2
    • 0027174179 scopus 로고
    • DNA repair. Engagement with transcription
    • Bootsma, D. and Hoeijmakers, J.H.J. (1993) DNA repair. Engagement with transcription. Nature, 363, 114-115.
    • (1993) Nature , vol.363 , pp. 114-115
    • Bootsma, D.1    Hoeijmakers, J.H.J.2
  • 3
    • 0031026977 scopus 로고    scopus 로고
    • The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large scale deletions associated with Werdnig-Hoffmann disease
    • Bürglen, L., Seroz, T., Miniou, P., Lefebvre, S., Burlet, P., Munnich, A., Viegas-Péquignot, E., Egly, J.M. and Melki, J. (1997) The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large scale deletions associated with Werdnig-Hoffmann disease. Am. J. Hum. Genet., 60, 72-79.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 72-79
    • Bürglen, L.1    Seroz, T.2    Miniou, P.3    Lefebvre, S.4    Burlet, P.5    Munnich, A.6    Viegas-Péquignot, E.7    Egly, J.M.8    Melki, J.9
  • 4
    • 0031666241 scopus 로고    scopus 로고
    • XPD mutations resulting in XP or TTD phenotypes prevents interaction with and stimulation by p44
    • Coin, F., Marinoni, J.C. Rodolfo, C., Fribourg, S., Pedrini, M.A. and Egly, J.M. (1998) XPD mutations resulting in XP or TTD phenotypes prevents interaction with and stimulation by p44. Nature Genet., 20, 184-188.
    • (1998) Nature Genet. , vol.20 , pp. 184-188
    • Coin, F.1    Marinoni, J.C.2    Rodolfo, C.3    Fribourg, S.4    Pedrini, M.A.5    Egly, J.M.6
  • 6
    • 15844367100 scopus 로고    scopus 로고
    • Human cyclin-dependent kinase-activating kinase exists in three distinct complexes
    • Drapkin, R., Le Roy, G., Cho, H., Akoulitchev, S. and Reinberg, D. (1996) Human cyclin-dependent kinase-activating kinase exists in three distinct complexes. Proc. Natl Acad. Sci. USA, 93, 6488-6493.
    • (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 6488-6493
    • Drapkin, R.1    Le Roy, G.2    Cho, H.3    Akoulitchev, S.4    Reinberg, D.5
  • 7
    • 0030740233 scopus 로고    scopus 로고
    • A role for TFIIH in controlling the activity of early RNA polymerase II elongation complexes
    • Dvir, A., Conaway, R.C. and Conaway, J.W. (1997) A role for TFIIH in controlling the activity of early RNA polymerase II elongation complexes. Proc. Natl Acad. Sci. USA, 94, 9006-9010.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 9006-9010
    • Dvir, A.1    Conaway, R.C.2    Conaway, J.W.3
  • 8
    • 0030732132 scopus 로고    scopus 로고
    • Mechanism of open complex and dual incision formation by human nucleotide excision repair factors
    • Evans, E., Moggs, J.G., Hwang, J.R., Egly, J.-M. and Wood, R.D. (1997) Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J., 16, 6559-6573.
    • (1997) EMBO J. , vol.16 , pp. 6559-6573
    • Evans, E.1    Moggs, J.G.2    Hwang, J.R.3    Egly, J.-M.4    Wood, R.D.5
  • 10
    • 0028590113 scopus 로고
    • Relationship of CDK-activating kinase and RNA polymerase II CTD kinase TFIIH/TFIIK
    • Feaver, W.J., Svejstrup, J.Q., Henry, N.L. and Kornberg, R.D. (1994) Relationship of CDK-activating kinase and RNA polymerase II CTD kinase TFIIH/TFIIK. Cell, 79, 1103-1109.
    • (1994) Cell , vol.79 , pp. 1103-1109
    • Feaver, W.J.1    Svejstrup, J.Q.2    Henry, N.L.3    Kornberg, R.D.4
  • 11
    • 0030013201 scopus 로고    scopus 로고
    • Relationships between DNA repair and transcription
    • Friedberg, E.C. (1996) Relationships between DNA repair and transcription. Annu. Rev. Biochem., 65, 15-42.
    • (1996) Annu. Rev. Biochem. , vol.65 , pp. 15-42
    • Friedberg, E.C.1
  • 12
    • 0025787782 scopus 로고
    • Purification and interaction properties of the human RNA polymerase B (II) general transcription factor BTF2
    • Gerard, M., Fischer, L., Moncollin, V., Chipoulet, J.M., Chambon, P. and Egly, J.M. (1991) Purification and interaction properties of the human RNA polymerase B (II) general transcription factor BTF2. J. Biol. Chem., 266, 20940-20945.
    • (1991) J. Biol. Chem. , vol.266 , pp. 20940-20945
    • Gerard, M.1    Fischer, L.2    Moncollin, V.3    Chipoulet, J.M.4    Chambon, P.5    Egly, J.M.6
  • 13
    • 0028352861 scopus 로고
    • Transcription factors IIE and IIH and ATP hydrolysis direct promoter clearance by RNA polymerase II
    • Goodrich, J.A. and Tjian, R. (1994) Transcription factors IIE and IIH and ATP hydrolysis direct promoter clearance by RNA polymerase II. Cell, 77, 145-156.
    • (1994) Cell , vol.77 , pp. 145-156
    • Goodrich, J.A.1    Tjian, R.2
  • 14
    • 0028140494 scopus 로고
    • DNA repair gene RAD3 of S. cerevisiae is essential for transcription by RNA polymerase II
    • Guzder, S.N., Qiu, H., Sommers, C.H., Sung, P., Prakash, L. and Prakash, S. (1994a) DNA repair gene RAD3 of S. cerevisiae is essential for transcription by RNA polymerase II. Nature, 367, 91-94.
    • (1994) Nature , vol.367 , pp. 91-94
    • Guzder, S.N.1    Qiu, H.2    Sommers, C.H.3    Sung, P.4    Prakash, L.5    Prakash, S.6
  • 15
    • 0028232284 scopus 로고
    • RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription
    • Guzder, S.N., Sung, P., Bailly, V., Prakash, L. and Prakash, S. (1994b) RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription. Nature, 369, 578-581.
    • (1994) Nature , vol.369 , pp. 578-581
    • Guzder, S.N.1    Sung, P.2    Bailly, V.3    Prakash, L.4    Prakash, S.5
  • 17
    • 0030007387 scopus 로고    scopus 로고
    • Opening of an RNA polymerase II promoter occurs in two distinct steps and requires the basal transcription factors TFIIE and IIH
    • Holstege, F.C.P., van der Vliet, P.C. and Timmers, M.H.T. (1996) Opening of an RNA polymerase II promoter occurs in two distinct steps and requires the basal transcription factors TFIIE and IIH. EMBO J., 15, 1666-1677.
    • (1996) EMBO J. , vol.15 , pp. 1666-1677
    • Holstege, F.C.P.1    Van Der Vliet, P.C.2    Timmers, M.H.T.3
  • 18
    • 0028180697 scopus 로고
    • p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL, a yeast protein involved in DNA repair
    • Humbert, S., van Vuuren, H., Lutz, Y., Hoeijmakers, J.H.J., Egly, J.M. and Moncollin, V. (1994) p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL, a yeast protein involved in DNA repair. EMBO J., 13, 2393-2398.
    • (1994) EMBO J. , vol.13 , pp. 2393-2398
    • Humbert, S.1    Van Vuuren, H.2    Lutz, Y.3    Hoeijmakers, J.H.J.4    Egly, J.M.5    Moncollin, V.6
  • 19
    • 0030570316 scopus 로고    scopus 로고
    • A 3′-5′ XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription
    • Hwang, J.R., Moncollin, V., Vermeulen, W., Seroz, T., van Vuuren, H., Hoeijmakers, J.H.J. and Egly, J.M. (1996) A 3′-5′ XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. J. Biol. Chem., 271, 15898-15904.
    • (1996) J. Biol. Chem. , vol.271 , pp. 15898-15904
    • Hwang, J.R.1    Moncollin, V.2    Vermeulen, W.3    Seroz, T.4    Van Vuuren, H.5    Hoeijmakers, J.H.J.6    Egly, J.M.7
  • 20
    • 0022273627 scopus 로고
    • Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet sensitivity associated with normal and diminished DNA repair ability, respectively
    • Johnson, R.T., Squires, S., Ellion, G.C., Koch, G.L.E. and Rainbow, A.J. (1985) Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet sensitivity associated with normal and diminished DNA repair ability, respectively. J. Cell Sci., 76, 115-133.
    • (1985) J. Cell Sci. , vol.76 , pp. 115-133
    • Johnson, R.T.1    Squires, S.2    Ellion, G.C.3    Koch, G.L.E.4    Rainbow, A.J.5
  • 21
    • 0032549574 scopus 로고    scopus 로고
    • Immunoaffinity purification of the human multisubunit transcription factor IIH
    • Le Roy, G., Drapkin, R., Weis, L. and Reinberg, D. (1998) Immunoaffinity purification of the human multisubunit transcription factor IIH. J. Biol. Chem., 273, 7134-7140.
    • (1998) J. Biol. Chem. , vol.273 , pp. 7134-7140
    • Le Roy, G.1    Drapkin, R.2    Weis, L.3    Reinberg, D.4
  • 22
    • 0026731557 scopus 로고
    • Human general transcription factor IIH phosphorylates the C-terminal domain of RNA polymerase II
    • Lu, H., Zawel, L., Fisher, L., Egly, J.M. and Reinberg, D. (1992) Human general transcription factor IIH phosphorylates the C-terminal domain of RNA polymerase II. Nature, 358, 641-645.
    • (1992) Nature , vol.358 , pp. 641-645
    • Lu, H.1    Zawel, L.2    Fisher, L.3    Egly, J.M.4    Reinberg, D.5
  • 23
    • 0031048846 scopus 로고    scopus 로고
    • Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH
    • Marinoni, J.C. et al. (1997) Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. EMBO J., 16, 1093-1102.
    • (1997) EMBO J. , vol.16 , pp. 1093-1102
    • Marinoni, J.C.1
  • 25
    • 0027168221 scopus 로고
    • DNA topology and a minimal set of basal factors for transcription by RNA polymerase II
    • Parvin, J.D. and Sharp, P.A. (1993) DNA topology and a minimal set of basal factors for transcription by RNA polymerase II. Cell, 73, 533-540.
    • (1993) Cell , vol.73 , pp. 533-540
    • Parvin, J.D.1    Sharp, P.A.2
  • 26
    • 0029982779 scopus 로고    scopus 로고
    • Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH
    • Reardon, J.T., Ge, H., Gibbs, E., Sancar, A., Hurwitz, J. and Pan,Z.-Q. (1996) isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH. Proc. Natl Acad. Sci. USA, 93, 6482-6487.
    • (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 6482-6487
    • Reardon, J.T.1    Ge, H.2    Gibbs, E.3    Sancar, A.4    Hurwitz, J.5    Pan, Z.-Q.6
  • 27
    • 0030998712 scopus 로고    scopus 로고
    • Substrate specificity of the cdk-activating kinase (CAK) is altered upon assocation with TFIIH
    • Rossignol, M., Kolb-Cheynel, I. and Egly, J.M. (1997) Substrate specificity of the cdk-activating kinase (CAK) is altered upon assocation with TFIIH. EMBO J., 16, 1628-1637.
    • (1997) EMBO J. , vol.16 , pp. 1628-1637
    • Rossignol, M.1    Kolb-Cheynel, I.2    Egly, J.M.3
  • 29
    • 0028241532 scopus 로고
    • The DNA-dependent ATPase activity associated with the class II transcription factor BTF2/TFIIH
    • Roy, R., Schaeffer, L., Humbert, S., Vermeulen, W., Weeda, G. and Egly, J.M. (1994b) The DNA-dependent ATPase activity associated with the class II transcription factor BTF2/TFIIH. J. Biol. Chem., 269, 9826-9832.
    • (1994) J. Biol. Chem. , vol.269 , pp. 9826-9832
    • Roy, R.1    Schaeffer, L.2    Humbert, S.3    Vermeulen, W.4    Weeda, G.5    Egly, J.M.6
  • 32
    • 0024095589 scopus 로고
    • Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP
    • Sung, P., Higgins, D., Prakash, L. and Prakash, S. (1988) Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP. EMBO J., 7, 3263-3269.
    • (1988) EMBO J. , vol.7 , pp. 3263-3269
    • Sung, P.1    Higgins, D.2    Prakash, L.3    Prakash, S.4
  • 33
    • 0028832388 scopus 로고
    • Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D
    • Takayama, K., Salazar, E.P., Lenmann, A., Stefanini, M., Thompson, L.H. and Weber, C.A. (1995) Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Cancer Res., 55, 5656-5663.
    • (1995) Cancer Res. , vol.55 , pp. 5656-5663
    • Takayama, K.1    Salazar, E.P.2    Lenmann, A.3    Stefanini, M.4    Thompson, L.H.5    Weber, C.A.6
  • 34
    • 12644310290 scopus 로고    scopus 로고
    • Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/ transcription gene
    • Taylor, E. et al. (1997) Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/ transcription gene. Proc. Natl Acad. Sci. USA, 94, 8658-8663.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 8658-8663
    • Taylor, E.1
  • 35
    • 0028922174 scopus 로고
    • A provisional transcript map of the spinal muscular atrophy (SMA) critical region
    • van der Steege, G. et al. (1995) A provisional transcript map of the spinal muscular atrophy (SMA) critical region. Eur. J. Hum. Genet., 345, 985-986.
    • (1995) Eur. J. Hum. Genet. , vol.345 , pp. 985-986
    • Van Der Steege, G.1
  • 36
    • 0028353174 scopus 로고
    • Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH)
    • van Vuuren, A.J. et al. (1994) Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH). EMBO J., 13, 1645-1653.
    • (1994) EMBO J. , vol.13 , pp. 1645-1653
    • Van Vuuren, A.J.1
  • 37
    • 0028085120 scopus 로고
    • Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
    • Vermeulen, W. et al. (1994a) Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am. J. Hum. Genet., 54, 191-200.
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 191-200
    • Vermeulen, W.1
  • 38
    • 0028673969 scopus 로고
    • Three unusual repair deficiencies associated with transcription factor BTF2 (TFIIH). Evidence for the existence of a transcription syndrome
    • Vermeulen, W. et al. (1994b) Three unusual repair deficiencies associated with transcription factor BTF2 (TFIIH). Evidence for the existence of a transcription syndrome. Cold Spring Harbor Quant. Symp., LIX, 317-329.
    • (1994) Cold Spring Harbor Quant. Symp. , vol.59 , pp. 317-329
    • Vermeulen, W.1
  • 39
    • 0025158110 scopus 로고
    • A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders Xeroderma Pigmentosum and Cockayne's syndrome
    • Weeda, G., van Ham, R.C.A., Vermeulen, W., Bootsma, D., van der Eb, A.J. and Hoeijmakers, J.H.J. (1990) A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders Xeroderma Pigmentosum and Cockayne's syndrome. Cell, 62, 777-791.
    • (1990) Cell , vol.62 , pp. 777-791
    • Weeda, G.1    Van Ham, R.C.A.2    Vermeulen, W.3    Bootsma, D.4    Van Der Eb, A.J.5    Hoeijmakers, J.H.J.6
  • 40
    • 0031975207 scopus 로고    scopus 로고
    • Affinity purification of human DNA repair/ transcription factor TFIIH using epitope-tagged xeroderma pigmentosum B protein
    • Winkler, G.S., Vermeulen, W., Coin, F., Egly, J.-M., Hoeijmakers, J.H.J. and Weeda, G. (1998) Affinity purification of human DNA repair/ transcription factor TFIIH using epitope-tagged xeroderma pigmentosum B protein. J. Biol. Chem., 273, 1092-1098.
    • (1998) J. Biol. Chem. , vol.273 , pp. 1092-1098
    • Winkler, G.S.1    Vermeulen, W.2    Coin, F.3    Egly, J.-M.4    Hoeijmakers, J.H.J.5    Weeda, G.6


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