Long-term complementation of DNA repair deficient human primary fibroblasts by retroviral transduction of the XPD gene

Mutation Research - DNA Repair

Volumn 364, Issue 3, 1996, Pages 161-169

  Quilliet, Xavier ^a   Chevallier Lagente, Odile ^a   Eveno, Eric ^a   Stojkovic, Tania ^b   Destée, Alain ^b   Sarasin, Alain ^a   Mezzina, Mauro ^a  

^a CNRS   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Diploid fibroblast; Gene transfer; Retroviral vector; Trichothiodystrophy; Xeroderma pigmentosum; XPD ERCC2 gene

Indexed keywords

VIRUS VECTOR;

ARTICLE; DNA REPAIR; FIBROBLAST; GENE TRANSFER; GENETIC TRANSDUCTION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; RETROVIRUS; TRICHOTHIODYSTROPHY; UNSCHEDULED DNA SYNTHESIS; XERODERMA PIGMENTOSUM;

CELL LINE; DNA; DNA HELICASES; DNA REPAIR; DNA-BINDING PROTEINS; FIBROBLASTS; GENE TRANSFER TECHNIQUES; GENETIC COMPLEMENTATION TEST; GENETIC VECTORS; HAIR DISEASES; HUMANS; MOLONEY MURINE LEUKEMIA VIRUS; PROTEINS; TRANSCRIPTION FACTORS; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

UNIDENTIFIED RETROVIRUS;

EID: 0030566917     PISSN: 09218777     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0921-8777(96)00024-9     Document Type: Article

References (36)

1. [1] Weeda, G., J.H.J. Hoeijmakers and D. Bootsma (1993) Genes controlling nucleotide excision repair in eukaryotic cells, Bioessays, 15, 249-258.
2. [2] Cleaver, J.E. and K.H. Kraemer (1994) Xeroderma Pigmentosum, in: C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle (Eds.), The Metabolic Basis in Inherited Disease, 7th Edn, Vol. 2, McGraw-Hill, New York, pp. 2949-2971.
3. [3] Itin, P.H. and M.R. Pittelkow (1990) Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias, J. Am. Acad. Dermatol., 22, 705-717.
4. [4] Bootsma, D., G. Weeda, W. Vermeulen, H.v. Vuuren, C. Troelstra, P.v.d. Spek and J.H.J. Hoeijmakers (1995) Nucleotide excision repair syndromes: molecular basis and clinical symptoms, Philos. Trans. R. Soc. Lond. B, Biol. Sci., 347, 75-81.
5. [5] Vermeulen, W., A.J. van Vuuren, M. Chipoulet, L. Schaeffer, E. Appeldoorn, G. Weeda, N.G.J. Jaspers, A. Priestley, C.F. Arlett, A.R. Lehmann, M. Stephanini, M. Mezzina, A. Sarasin, D. Bootsma, J.-M. Egly and J.H.J. Hoeijmakers (1994) Three unusual repair deficiencies associated with transcription factor BTF2 (TFIIH): evidence for the existence of a transcription syndrome, Cold Spring Harb. Symp. Quant. Biol., LIX, 317-329.
6. [6] Daya-Grosjean, L., M.R. James, C. Drougard and A. Sarasin (1987) An Immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors, Mutation Res., 183, 185-196.
7. [7] Eveno, E., X. Quilliet, O. Chevallier-Lagente, L. Daya-Grosjean, A. Stary, L. Zeng, A. Benoit, E. Savini, G. Ciarrocchi, P. Kannouche, B. Salles, A. Sarasin and M. Mezzina (1995) Stable SV40-transformation and characterisation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient, Biochimie, 77, 906-912.
8. [8] Tanaka, K., N. Miura, I. Satokata, I. Miyamoto, M.C. Yoshida, Y. Satoh, S. Kondo, A. Yasui, H. Okayama and Y. Okada (1990) Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain, Nature, 348, 73-76.
9. [9] Weeda, G., R.C.v. Ham, W. Vermeulen, D. Bootsma, A.J.v.d. Eb and J.H.J. Hoeijmakers (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.
10. [10] Legerski, R. and C. Peterson (1992) Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C [pushed erratum appears in Nature, 1992 Dec, 10;360(6404):610], Nature, 359, 70-73.
11. [11] Scherly, D., T. Nouspikel, J. Corlet, C. Ucla, A. Bairoch and S.G. Clarkson (1993) Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2, Nature, 363, 182-185.
12. [12] Gözükara, E.M., C.N. Parris, C.A. Weber, E.P. Salazar, M.M. Seidman, J.F. Watkins, L. Prakash and K.H. Kraemer (1994) The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitiv/ity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells, Cancer Res., 54, 3837-3844.
13. [13] Mezzina, M., E. Eveno, O. Chevalier-Lagente, A. Benoit, M. Carreau, W. Vermeulen, J.H.J. Hoeijmakers, M. Stefanini, A.R. Lehman, C.A. Weber and A. Sarasin (1994) Correction by the ERCC2 gene of UV-sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells, Carcinogenesis, 15, 1493-1498.
14. [14] Kantor, G.J. and D.R. Hull (1984) The rate of removal of pyrimidine dimers in quiescent cultures of normal human and XP cells, Mutation Res., 132, 21-31.
15. [15] Enninga, I.C., R.T. Groenendijk, A.A.v. Zeeland and J.W. Simons (1985) Differential response of human fibroblasts to the cytotoxic and mutagenic effects of UV radiation in different phases of the cell cycle, Mutation Res., 148, 119-28.
16. [16] McGregor, W.G., R.-H. Chan, L. Lukash, V.M. Hamer and J.J. McCormick (1991) Cell cycle-dependent strand bias for UV-induced mutations in the transcribed strand of excision repair-proficient human fibroblasts but not in repair-deficient cells, Mol. Cell. Biol., 11, 1927-1934.
17. [17] Kaufmann, W.K. and S.J. Wilson (1994) G1 arrest and cell-cycle-dependent clastogenesis in UV-irradiated human fibroblasts, Mutation Res., 314, 67-76.
18. [18] Ronai, Z., S. Rutberg and Y.M. Yang (1994) UV-responsive element (TGACAACA) from rat fibroblasts to human melanomas, Environ. Mol. Mutagen., 23, 157-63.
19. [19] Mitchell, D.L., J.E. Cleaver, M.P. Lowery and R.R. Hewitt (1995) Induction and repair of (6-4) photoproducts in normal human and xeroderma pigmentosum variant cells during the cell cycle, Mutation Res., 337, 161-167.
20. [20] Orren, D.K., L.N. Petersen and V.A. Bohr (1995) A UV-responsive G(2) checkpoint in rodent cells, Mol. Cell. Biol., 15, 3722-3730.
21. [21] Pan, Z.Q., J.T. Reardon, L. Li, H. Flores-Rozas, R. Legerski, A. Sancar and J. Hurwitz (1995) Inhibition of nucleotide excision repair by the cyclin-dependent kinase inhibitor p21, J. Biol. Chem., 270, 22008-22016.
22. [22] Mellon, I., V. Bohr, C.A. Smith and P.C. Hanawalt (1986) Preferential DNA repair of an active gene in human cells, Proc. Natl. Acad. Sci. USA, 83, 878-882.
23. [23] Venema, J., A.v. Hoffen, A.T. Natarajan, A.A. v. Zeeland and L.H. Mullenders (1990) The residual repair capacity of xeroderma pigmentosum complementation group C fibroblasts is highly specific for transcriptionally active DNA, Nucleic Acids Res., 18, 443-448.
24. [24] Venema, J., L.H. Mullenders, A.T. Natarajan, A.A.v. Zeeland and L.V. Mayne (1990) The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA, Proc. Natl. Acad. Sci. USA, 87, 4707-4711.
25. [25] Lommel, L. and P.C. Hanawalt (1993) Increased UV resistance of a xeroderma pigmentosum revenant cell line is correlated with selective repair of the transcribed strand of an expressed gene, Mol. Cell. Biol., 13, 970-976.
26. [26] Petersen, L.N., D.K. Orren and V.A. Bohr (1995) Gene-specific and strand-specific DNA repair in the G(1) and G(2) phases of the cell cycle, Mol. Cell. Biol., 15, 3731-3737.
27. [27] Vuillaume, M., R. Calvayrac, M. Best-Belpomme, P. Tarroux, M. Hubert, R. Decroix and A. Sarasin (1986) Deficiency in the catalase activity of xeroderma pigmentosum cell and simian virus 40-transformed human cell extracts, Cancer Res., 46, 538-544.
28. [28] Hoffschir, F., M. Vuillaume, L. Sabatier, M. Ricoul, L. Daya-Grosjean, S. Estrade, R. Cassingena, R. Calvayrac, A. Sarasin and B. Dutrillaux (1993) Decrease in catalase activity and loss of the 11p chromosome arm in the course of SV40 transformation of human fibroblasts., Carcinogenesis, 14, 1569-1572.
29. [29] De Weerd-Kastelein, E.A., W. Keijer and D. Bootsma (1972) Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization, Nature, 238, 80-83.
30. [30] Vermeulen, W., P. Osseweijer, A.J.R. de Jonge and J.H.J. Hoeijmakers (1986) Transient correction of Excision repair in fibroblasts of 9 xeroderma pigmentosum complementation groups by microinjection of crude human cell extracts, Mutation Res., 165, 199-206.
31. [31] Carreau, M., E. Eveno, X. Quilliet, O. Chevalier-Lagente, A. Benoit, B. Tanganelli, M. Stefanini, W. Vermeulen, J.H.J. Hoeijmakers, A. Sarasin and M. Mezzina (1995) Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes, Carcinogenesis, 16, 1003-1009.
32. [32] Danos, O. and R. Mulligan (1988) Safe and efficient generation of recombinant retrovirus with amphotropic and ecotropic host range, Proc. Natl. Acad. Sci. USA, 85, 6460-6464.
33. [33] Garlick, J.A., A.B. Katz, E.S. Fenjves and L.B. Taichman (1991) Retrovirus-mediated transduction of cultured epidermal keratinocytes, J. Invest. Dermatol., 97, 824-829.
34. [34] Walsh, C., M. Grompe, E. Vanin, M. Buchwald, N. Young, A. Nienhuis and J. Liu (1994) A functionally active retrovirus vector for gene therapy in Fanconi anemia group C, Blood, 84, 453-459.
35. [35] Carreau, M., X. Quilliet, E. Eveno, A. Salvetti, O. Danos, J.M. Heard, M. Mezzina and A. Sarasin (1995) Functional retroviral vector for gene therapy of xeroderma pigmentosum group D patients, Hum. Gene Ther., 6, 1307-1315.
36. [36] Stojkovic, T., L. Defebvre, X. Quilliet, E. Eveno, A. Sarasin, M. Mezzina and A. Destée. (1996) Neurological manifestation in two related Xeroderma Pigmentosum group D patients: complication of the late onset type of the juvenile form, Mov. Disord., submitted.