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Volumn 62, Issue 1, 1998, Pages 77-85

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

EID: 0031891880     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301686     Document Type: Article
Times cited : (129)

References (37)
  • 2
    • 0030902253 scopus 로고    scopus 로고
    • Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells
    • Balajee AS, May A, Dianov GL, Friedberg EC, Bohr VA (1997) Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. Proc Natl Acad Sci USA 94:4306-4311
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 4306-4311
    • Balajee, A.S.1    May, A.2    Dianov, G.L.3    Friedberg, E.C.4    Bohr, V.A.5
  • 3
    • 0027174179 scopus 로고
    • Engagement with transcription
    • Bootsma D, Hoeijmakers JHJ (1993) Engagement with transcription. Nature 363:114-115
    • (1993) Nature , vol.363 , pp. 114-115
    • Bootsma, D.1    Hoeijmakers, J.H.J.2
  • 4
    • 0017875435 scopus 로고
    • Normal pressure hydrocephalus: Recognition and relationship to neurological abnormalities in Cockayne's syndrome
    • Brumback RA, Yoder FW, Andrews AD, Peck GL, Robbins JH (1978) Normal pressure hydrocephalus: recognition and relationship to neurological abnormalities in Cockayne's syndrome. Arch Neurol 35:337-345
    • (1978) Arch Neurol , vol.35 , pp. 337-345
    • Brumback, R.A.1    Yoder, F.W.2    Andrews, A.D.3    Peck, G.L.4    Robbins, J.H.5
  • 6
    • 0031025997 scopus 로고    scopus 로고
    • Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G
    • Cooper PK, Nouspikel T, Clarkson SG, Leadon SA (1997) Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science 275:990-993
    • (1997) Science , vol.275 , pp. 990-993
    • Cooper, P.K.1    Nouspikel, T.2    Clarkson, S.G.3    Leadon, S.A.4
  • 7
    • 0029850732 scopus 로고    scopus 로고
    • Cockayne syndrome - A primary defect in DNA repair, transcription, both or neither?
    • Friedberg EC (1996) Cockayne syndrome - a primary defect in DNA repair, transcription, both or neither? BioEssays 18: 731-738
    • (1996) BioEssays , vol.18 , pp. 731-738
    • Friedberg, E.C.1
  • 8
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
    • Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell 80:837-845
    • (1995) Cell , vol.80 , pp. 837-845
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 9
    • 0029088143 scopus 로고
    • The Cockayne-syndrome group-A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA-polymerase-II TFIIH
    • Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, et al (1995) The Cockayne-syndrome group-A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA-polymerase-II TFIIH. Cell 82:555-564
    • (1995) Cell , vol.82 , pp. 555-564
    • Henning, K.A.1    Li, L.2    Iyer, N.3    McDaniel, L.D.4    Reagan, M.S.5    Legerski, R.6    Schultz, R.A.7
  • 10
    • 0027221911 scopus 로고
    • Nucleotide excision repair II: From yeast to mammals
    • Hoeijmakers JHJ (1993) Nucleotide excision repair II: from yeast to mammals. Trends Genet 9:211-217
    • (1993) Trends Genet , vol.9 , pp. 211-217
    • Hoeijmakers, J.H.J.1
  • 12
    • 0023613953 scopus 로고
    • Rapid and efficient site-specific mutagenesis without phenotypic selection
    • Kunkel TA, Roberts JD, Zakour RA (1987) Rapid and efficient site-specific mutagenesis without phenotypic selection. Methods Enzymol 154:367-382
    • (1987) Methods Enzymol , vol.154 , pp. 367-382
    • Kunkel, T.A.1    Roberts, J.D.2    Zakour, R.A.3
  • 13
    • 0020374786 scopus 로고
    • Three complementation groups in Cockayne syndrome
    • Lehmann AR (1982) Three complementation groups in Cockayne syndrome. Mutat Res 106:347-356
    • (1982) Mutat Res , vol.106 , pp. 347-356
    • Lehmann, A.R.1
  • 14
    • 0028810356 scopus 로고
    • Nucleotide excision repair and the link with transcription
    • Lehmann AR (1995) Nucleotide excision repair and the link with transcription. Trends Biochem Sci 20:402-405
    • (1995) Trends Biochem Sci , vol.20 , pp. 402-405
    • Lehmann, A.R.1
  • 16
    • 0027303168 scopus 로고
    • Cockayne's syndrome: Correlation of clinical features with cellular sensitivity of RNA synthesis to UV-irradiation
    • Lehmann AR, Thompson AF, Harcourt SA, Stefanini M, Norris PG (1993) Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV-irradiation. J Med Genet 30:679-682
    • (1993) J Med Genet , vol.30 , pp. 679-682
    • Lehmann, A.R.1    Thompson, A.F.2    Harcourt, S.A.3    Stefanini, M.4    Norris, P.G.5
  • 17
    • 0020265071 scopus 로고
    • Early onset of Cockayne syndrome
    • Lowry RB (1982) Early onset of Cockayne syndrome. Am J Med Genet.13:209-210
    • (1982) Am J Med Genet. , vol.13 , pp. 209-210
    • Lowry, R.B.1
  • 18
    • 0020066520 scopus 로고
    • Failure of RNA synthesis to recover after UV-irradiation: An early defect in cells from individuals with Cockayne's syndrome and xeroderma pig-mentosum
    • Mayne LV, Lehmann AR (1982) Failure of RNA synthesis to recover after UV-irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pig-mentosum. Cancer Res 42:1473-1478
    • (1982) Cancer Res , vol.42 , pp. 1473-1478
    • Mayne, L.V.1    Lehmann, A.R.2
  • 19
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • Nance MA, Berry SA (1992) Cockayne syndrome: review of 140 cases. Am J Med Genet 42:68-84
    • (1992) Am J Med Genet , vol.42 , pp. 68-84
    • Nance, M.A.1    Berry, S.A.2
  • 20
    • 0030986934 scopus 로고    scopus 로고
    • SWI2/SNF2 and related proteins: ATP-driven motors that disrupt protein-DNA interactions
    • Pazin MJ, Kadonaga JT (1997) SWI2/SNF2 and related proteins: ATP-driven motors that disrupt protein-DNA interactions. Cell 88:737-740
    • (1997) Cell , vol.88 , pp. 737-740
    • Pazin, M.J.1    Kadonaga, J.T.2
  • 21
    • 0028987268 scopus 로고
    • The SWI-SNF complex: A chromatin remodeling machine?
    • Peterson CL, Tamkun JW (1995) The SWI-SNF complex: a chromatin remodeling machine? Trends Biochem Sci 20: 143-146
    • (1995) Trends Biochem Sci , vol.20 , pp. 143-146
    • Peterson, C.L.1    Tamkun, J.W.2
  • 22
    • 0029827343 scopus 로고    scopus 로고
    • ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome
    • Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarell OWJ, Gibbons RJ (1996) ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Hum Mol Genet 5:1899-1907
    • (1996) Hum Mol Genet , vol.5 , pp. 1899-1907
    • Picketts, D.J.1    Higgs, D.R.2    Bachoo, S.3    Blake, D.J.4    Quarell, O.W.J.5    Gibbons, R.J.6
  • 23
    • 0027905034 scopus 로고
    • Molecular mechanism of transcription repair coupling
    • Selby CP, Sancar A (1993) Molecular mechanism of transcription repair coupling. Science 260:53-58
    • (1993) Science , vol.260 , pp. 53-58
    • Selby, C.P.1    Sancar, A.2
  • 24
    • 0031020871 scopus 로고    scopus 로고
    • Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II
    • _ (1997) Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II. J Biol Chem 272:1885-1890
    • (1997) J Biol Chem , vol.272 , pp. 1885-1890
  • 26
    • 0027161603 scopus 로고
    • Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors
    • Steingrimsdottir H, Rowley G, Waugh A, Beare D, Ceccherini I, Cole J, Lehmann AR (1993) Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors. Mutat Res 294: 29-41
    • (1993) Mutat Res , vol.294 , pp. 29-41
    • Steingrimsdottir, H.1    Rowley, G.2    Waugh, A.3    Beare, D.4    Ceccherini, I.5    Cole, J.6    Lehmann, A.R.7
  • 27
    • 0025742773 scopus 로고
    • Comparison of cellular sensitivity to UV killing with neuropsychological impairment in Cockayne syndrome patients
    • Sugita K, Takanashi J, Suzuki N, Niimi H (1991) Comparison of cellular sensitivity to UV killing with neuropsychological impairment in Cockayne syndrome patients. Brain Dev 13: 163-166
    • (1991) Brain Dev , vol.13 , pp. 163-166
    • Sugita, K.1    Takanashi, J.2    Suzuki, N.3    Niimi, H.4
  • 30
    • 0026465665 scopus 로고
    • ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
    • Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JHJ (1992) ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 71:939-953
    • (1992) Cell , vol.71 , pp. 939-953
    • Troelstra, C.1    Van Gool, A.2    De Wit, J.3    Vermeulen, W.4    Bootsma, D.5    Hoeijmakers, J.H.J.6
  • 31
    • 0030916337 scopus 로고    scopus 로고
    • Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition
    • van der Horst GTJ, van Steeg H, Berg RJW, van Gool AJ, de Wit J, Weeda G, Morreau H, et al (1997) Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 89:425-435
    • (1997) Cell , vol.89 , pp. 425-435
    • Van Der Horst, G.T.J.1    Van Steeg, H.2    Berg, R.J.W.3    Van Gool, A.J.4    De Wit, J.5    Weeda, G.6    Morreau, H.7
  • 32
    • 0030826732 scopus 로고    scopus 로고
    • The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in a RNA polymerase II containing complex
    • van Gool AJ, Citterio E, Rademakers S, van Os R, Vermeulen W, Constantinou A, Egly J-M, et al (1997a) The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in a RNA polymerase II containing complex. EMBO J 16:5955-5965
    • (1997) EMBO J , vol.16 , pp. 5955-5965
    • Van Gool, A.J.1    Citterio, E.2    Rademakers, S.3    Van Os, R.4    Vermeulen, W.5    Constantinou, A.6    Egly, J.-M.7
  • 36
    • 0029941444 scopus 로고    scopus 로고
    • The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes
    • van Oosterwijk MF, Versteeg A, Filon R, van Zeeland AA, Mullenders LHF (1996) The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes. Mol Cell Biol 16:4436-4444
    • (1996) Mol Cell Biol , vol.16 , pp. 4436-4444
    • Van Oosterwijk, M.F.1    Versteeg, A.2    Filon, R.3    Van Zeeland, A.A.4    Mullenders, L.H.F.5
  • 37
    • 0018328670 scopus 로고
    • Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome
    • Wade MH, Chu EHY (1979) Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome. Mutat Res 59:49-60
    • (1979) Mutat Res , vol.59 , pp. 49-60
    • Wade, M.H.1    Chu, E.H.Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.