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Volumn 19, Issue 5, 2000, Pages 1157-1166

UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome

Author keywords

Cockayne syndrome; DNA breaks; Nucleotide excision repair; UV light; Xeroderma pigmentosum

Indexed keywords

INTERCELLULAR ADHESION MOLECULE 1; PROTEIN P53;

EID: 0034161270     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/19.5.1157     Document Type: Article
Times cited : (55)

References (31)
  • 1
    • 0028948394 scopus 로고
    • Mammalian DNA nucleotide excision repair reconstituted with purified components
    • Aboussekhra, A. et al. (1995) Mammalian DNA nucleotide excision repair reconstituted with purified components. Cell, 80, 859-868.
    • (1995) Cell , vol.80 , pp. 859-868
    • Aboussekhra, A.1
  • 2
    • 12644305856 scopus 로고    scopus 로고
    • Photocarcinogenesis correlates with immuno-suppression in DNA-repair-defective individuals
    • Ahrens, C. et al. (1997) Photocarcinogenesis correlates with immuno-suppression in DNA-repair-defective individuals. Proc. Natl Acad. Sci. USA, 94, 6837-6841.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 6837-6841
    • Ahrens, C.1
  • 4
    • 0032231836 scopus 로고    scopus 로고
    • Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency but gene dosage appears to determine clinical severity
    • Botta, E., Nardo, T., Broughton, B.C., Marinoni, S., Lehmann, A.R. and Stefanini, M. (1998) Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency but gene dosage appears to determine clinical severity. Am. J. Hum. Genet., 63, 190-196.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 190-196
    • Botta, E.1    Nardo, T.2    Broughton, B.C.3    Marinoni, S.4    Lehmann, A.R.5    Stefanini, M.6
  • 5
    • 0028868125 scopus 로고
    • Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D with the clinical features of xeroderma pigmentosum and Cockayne syndrome
    • Broughton, B.C. et al. (1995) Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D with the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am. J. Hum. Genet., 56, 167-174.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 167-174
    • Broughton, B.C.1
  • 6
    • 0031666241 scopus 로고    scopus 로고
    • Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH
    • Coin, F., Marinoni, J.C., Rodolfo, C., Fribourg, S., Pedrini, A.M. and Egly, J.M. (1998) Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. 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, A.M.5    Egly, J.M.6
  • 7
    • 0033605159 scopus 로고    scopus 로고
    • Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair
    • Constantinou, A., Gunz, D., Evans, E., Lalle, P., Bates, P.A., Wood, R.D. and Clarkson, S.G. (1999) Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair. J. Biol. Chem., 274, 5637-5648.
    • (1999) J. Biol. Chem. , vol.274 , pp. 5637-5648
    • Constantinou, A.1    Gunz, D.2    Evans, E.3    Lalle, P.4    Bates, P.A.5    Wood, R.D.6    Clarkson, S.G.7
  • 8
    • 0031025997 scopus 로고    scopus 로고
    • Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G
    • Cooper, P.K., Nouspikel, T., Clarkson, S.G. and Leadon, S.A. (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
  • 9
    • 0033118354 scopus 로고    scopus 로고
    • Molecular mechanism of nucleotide excision repair
    • de Laat, W.L., Jaspers, N.G. and Hoeijmakers, J.H. (1999) Molecular mechanism of nucleotide excision repair. Genes Dev., 13, 768-785.
    • (1999) Genes Dev. , vol.13 , pp. 768-785
    • De Laat, W.L.1    Jaspers, N.G.2    Hoeijmakers, J.H.3
  • 10
    • 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
  • 11
    • 0026501421 scopus 로고
    • UV-C sensitivity of unstimulated and stimulated human lymphocytes from normal and xeroderma pigmentosum donors in the comet assay: A potential diagnostic technique
    • Green, M.H.L., Lowe, J.E., Harcourt, S.A., Akinluyi, P., Rowe, T., Cole, J., Anstey, A.V. and Arlett, C.F. (1992) UV-C sensitivity of unstimulated and stimulated human lymphocytes from normal and xeroderma pigmentosum donors in the comet assay: a potential diagnostic technique. Mutat. Res., 273, 137-144.
    • (1992) Mutat. Res. , vol.273 , pp. 137-144
    • Green, M.H.L.1    Lowe, J.E.2    Harcourt, S.A.3    Akinluyi, P.4    Rowe, T.5    Cole, J.6    Anstey, A.V.7    Arlett, C.F.8
  • 13
    • 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., Wermeulen, 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    Wermeulen, W.3    Seroz, T.4    Van Vuuren, H.5    Hoeijmakers, J.H.J.6    Egly, J.M.7
  • 14
    • 0025276699 scopus 로고
    • Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
    • Itin, P.H. and Pittelkow, M.R. (1990) Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J. Am. Acad. Dermatol., 20, 705-717.
    • (1990) J. Am. Acad. Dermatol. , vol.20 , pp. 705-717
    • Itin, P.H.1    Pittelkow, M.R.2
  • 15
    • 0023130695 scopus 로고
    • Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases
    • Kraemer, K.H., Lee, M.M. and Scotto, J. (1987) Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch. Dermatol., 123, 241-250.
    • (1987) Arch. Dermatol. , vol.123 , pp. 241-250
    • Kraemer, K.H.1    Lee, M.M.2    Scotto, J.3
  • 16
    • 0028278589 scopus 로고
    • Evidence that DNA damage is a mediate in ultraviolet B radiation-induced inhibition of human gene expression: Ultraviolet B radiation effects on intercellular adhesion molecule-1 (ICAM-1) expression
    • Krutmann, J., Bohnert, J.E. and Jung, E.G. (1994) Evidence that DNA damage is a mediate in ultraviolet B radiation-induced inhibition of human gene expression: ultraviolet B radiation effects on intercellular adhesion molecule-1 (ICAM-1) expression. J. Invest. Dermatol., 102, 428-432.
    • (1994) J. Invest. Dermatol. , vol.102 , pp. 428-432
    • Krutmann, J.1    Bohnert, J.E.2    Jung, E.G.3
  • 17
    • 0018239327 scopus 로고
    • Photosensibilite et reparation de l'ADN: Possibilite d'une parente nosologique entre xeroderma pigmentosum et syndrome de Cockayne
    • Lafforet, D. and Dupuy, J.-M. (1978) Photosensibilite et reparation de l'ADN: possibilite d'une parente nosologique entre xeroderma pigmentosum et syndrome de Cockayne. Arch. Fr. Pediatr., 35, 65-74.
    • (1978) Arch. Fr. Pediatr. , vol.35 , pp. 65-74
    • Lafforet, D.1    Dupuy, J.-M.2
  • 18
    • 0022574299 scopus 로고
    • Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker
    • Mayne, L.V., Priestley, A., James, M.R. and Burke, J.F. (1986) Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker. Exp. Cell Res., 162, 530-538.
    • (1986) Exp. Cell Res. , vol.162 , pp. 530-538
    • Mayne, L.V.1    Priestley, A.2    James, M.R.3    Burke, J.F.4
  • 19
    • 0029911744 scopus 로고    scopus 로고
    • Analysis of incision sites produced by human cell extracts and purified proteins during nucleotide excision repair of a 1,3-intrastrand d(GpTpG)-cisplatin adduct
    • Moggs, J.G., Yarema, K.J., Essigmann, J.M. and Wood, R.D. (1996) Analysis of incision sites produced by human cell extracts and purified proteins during nucleotide excision repair of a 1,3-intrastrand d(GpTpG)-cisplatin adduct. J. Biol. Chem., 271, 7177-7186.
    • (1996) J. Biol. Chem. , vol.271 , pp. 7177-7186
    • Moggs, J.G.1    Yarema, K.J.2    Essigmann, J.M.3    Wood, R.D.4
  • 20
    • 10144261881 scopus 로고    scopus 로고
    • DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome
    • Moriwaki, S.-I. et al. (1996) DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome. J. Invest. Dermatol., 107, 647-653.
    • (1996) J. Invest. Dermatol. , vol.107 , pp. 647-653
    • Moriwaki, S.-I.1
  • 21
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • Nance, M.A. and Berry, S.A. (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
  • 22
    • 0019955788 scopus 로고
    • Initial rates of DNA incision in UV-irradiated human cells. Differences between normal, xeroderma pigmentosum and tumour cells
    • Squires, S., Johnson, R.T. and Collins, A.R.S. (1982) Initial rates of DNA incision in UV-irradiated human cells. Differences between normal, xeroderma pigmentosum and tumour cells. Mutat. Res., 95, 389-404.
    • (1982) Mutat. Res. , vol.95 , pp. 389-404
    • Squires, S.1    Johnson, R.T.2    Collins, A.R.S.3
  • 23
  • 24
    • 0028832388 scopus 로고
    • Defects in the repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum
    • Takayama, K., Salazar, E.P., Lehmann, A.R., Stefanini, M., Thompson, L.H. and Weber, C.A. (1995) Defects in the repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum. Cancer Res., 55, 5656-5663.
    • (1995) Cancer Res. , vol.55 , pp. 5656-5663
    • Takayama, K.1    Salazar, E.P.2    Lehmann, A.R.3    Stefanini, M.4    Thompson, L.H.5    Weber, C.A.6
  • 25
    • 0032160650 scopus 로고    scopus 로고
    • Conservation of eukaryotic DNA repair mechanisms
    • Taylor, E.M. and Lehmann, A.R. (1998) Conservation of eukaryotic DNA repair mechanisms. Int. J. Radiat. Biol., 74, 277-286.
    • (1998) Int. J. Radiat. Biol. , vol.74 , pp. 277-286
    • Taylor, E.M.1    Lehmann, A.R.2
  • 26
    • 12644310290 scopus 로고    scopus 로고
    • Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene
    • Taylor, E.M. 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.M.1
  • 28
    • 0033565819 scopus 로고    scopus 로고
    • Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription
    • van Hoffen, A., Kalle, W.H., Jong-Versteeg, A., Lehmann, A.R., Zeeland, A.A. and Mullenders, L.H. (1999) Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription. Nucleic Acids Res., 27, 2898-2904.
    • (1999) Nucleic Acids Res. , vol.27 , pp. 2898-2904
    • Van Hoffen, A.1    Kalle, W.H.2    Jong-Versteeg, A.3    Lehmann, A.R.4    Zeeland, A.A.5    Mullenders, L.H.6
  • 29
    • 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, M.F., Versteeg, A., Filon, R., van Zeeland, A.A. and Mullenders, L.H.F. (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
  • 30
    • 0029892791 scopus 로고    scopus 로고
    • DNA repair in eukaryotes
    • Wood, R.D. (1996) DNA repair in eukaryotes. Annu. Rev. Biochem., 65, 135-167.
    • (1996) Annu. Rev. Biochem. , vol.65 , pp. 135-167
    • Wood, R.D.1
  • 31
    • 0029088318 scopus 로고
    • Detection and measurement of nucleotide excision repair synthesis by mammalian cell extracts in vitro
    • Wood, R.D., Biggerstaff, M. and Shivji, M.K.K. (1995) Detection and measurement of nucleotide excision repair synthesis by mammalian cell extracts in vitro. Methods, 7, 163-175.
    • (1995) Methods , vol.7 , pp. 163-175
    • Wood, R.D.1    Biggerstaff, M.2    Shivji, M.K.K.3


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