Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity

Human Molecular Genetics

Volumn 8, Issue 5, 1999, Pages 935-941

  Colella, Stefano ^a   Nardo, Tiziana ^a   Mallery, Donna ^b   Borrone, Carla ^c   Ricci, Roberta ^d   Ruffa, Giuseppe ^e   Lehmann, Alan R ^b   Stefanini, Miria ^a  

^a Ist Genet Biochim ed E   (Italy)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

^c G GASLINI INSTITUTE   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL CULTURE; CELL PROLIFERATION; CELL VIABILITY; COCKAYNE SYNDROME; DNA DAMAGE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; ITALY; MENTAL DEFICIENCY; PHOTOSENSITIVITY; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SYNTHESIS; ULTRAVIOLET RADIATION;

EID: 0032945313     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.5.935     Document Type: Article

References (34)

1. Nance, M.A. and Berry, S.A. (1992) Cockayne syndrome: review of 140 cases. Am. J. Med. Genet., 42, 68-84.
2. Lehmann, A.R. (1987) Cockayne's syndrome and trichothiodystrophy: defective repair without cancer. Cancer Rev., 7, 82-103.
3. Tanaka, K., Kawai, Y., Kumahara, Y., Ikenaga, M. and Okada, Y. (1981) Genetic complementation groups in Cockayne syndrome. Somat. Cell Genet., 7, 445-456.
4. Lehmann, A.R. (1982) Three complementation groups in Cockayne syndrome. Mutat. Res., 106, 347-356.
5. Miyauchi, H., Horio, T., Akaeda, T., Asada, Y., Chang, H.R., Ishizaki, K. and Ikenaga, M. (1994) Cockayne syndrome in two adult siblings. Am. Acad. Dermatol.. 30, 329-335.
6. Stefanini, M., Fawcett, H., Botta, E., Nardo, T. and Lehmann, A.R. (1996) Genetic analysis of twenty-two patients with Cockayne syndrome. Hum. Genet., 97, 418-423.
7. Venema, J., Mullenders, L.H.F., Natarajan, AT., van Zeeland, A.A. and Mayne, L. V. (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.
8. van Hoffen, A., Natarajan, A.T., Mayne, L.V., van Zeeland, A.A., Mullenders, L.H.F. and Venema, J. (1993) Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells. Nucleic Acids Res., 21, 5890-5895.
9. Tu, Y., Bates, S. and Pfeifer, G.P (1997) Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells. J. Biol. Chem., 272, 20747-20755.
10. Hanawalt, P., Donahue, B. A. and Sweder, K.S. (1994) Collision or collusion? Curr. Biol., 4, 518-521.
11. Troelstra, C., Van Gool, A., de Wit, J., Vermeulen, W., Bootsma, D. and Hoeijmakers, J.H.J. (1992) ERCC6, a member of a subfamily of putative helicase, is involved in Cockayne's syndrome and preferential repair of active genes. Cell, 71, 939-953.
12. Henning, K.A., Li, L., Iyer, N., McDaniel, L.D., Reagan, M.S., Legerski, R., Schultz, R.A., Stefanini, M., Lehmann, A.R., Mayne, L.V. and Friedberg, E.C. (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.
13. Mallery, D.L., Tanganelli, B., Colella, S., Steingrimsdottir, H., van Gool, A.J., Troelstra, C., Stefanini, M. and Lehmann, A.R. (1998) Molecular analysis of mutations in the CSB (ERCCd) gene in patients with Cockayne syndrome. Am. J. Hum. Genet., 62, 77-85.
14. van der Horst, G.T., van Steeg, H., Berg, R.J., van Gool, A.J., de Wit, J., Weeda, G., Morreau, H., Beems, R.B., van Kreijl, C.F., de Gruijl, F.R., Bootsma, D. and Hoeijmakers, J.H. (1997) Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell, 89, 425-435.
15. Friedberg, E.C. (1996) Cockayne syndrome - a primary defect in DNA repair, transcription, both or neither? BioEssays, 18, 731-738.
16. van Gool, A.J., van der Horst, G.T.J., Citterio, E. and Hoeijmakers, J.H.J. (1997) Cockayne syndrome: defective repair of transcription. EMBO J., 16, 4155-4162.
17. Bregman, D.B., Halaban, R., van Gool, A.J., Henning, K.A., Friedberg, E.C. and Warren, S.L. (1996) UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. Proc. Natl Acad. Sci. USA, 93, 11586-11590.
18. Donahue, B.A., Fuchs, R.P.P., Reines, D. and Hanawalt, P.C. (1996) Effects of aminofluorene and acetylfluorene DNA adducts on transcriptional elongation by RNA polymerase II. J. Biol. Chem., 271, 10588-10594.
19. 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.
20. Balajee, A.S., May. A., Dianov, G.L., Friedberg, E.C. and Bohr, V.A. (1997) Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. Proc. Natl Acad. Sci. USA, 94, 4306-4311.
21. 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.
22. Dianov, G.L., Houle, J.F., Iyer, N., Bohr, V.A. and Friedberg, E.C. (1997) Reduced RNA polymerase II transcription in extracts of Cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells. Nucleic Acids Res., 25, 3636-3642.
23. Selby, C.P. and Sancar, A. (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.
24. Tantin, D., Kansal, A. and Carey, M. (1997) Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes. Mol. Cell. Biol., 17, 6803-6814.
25. van Gool, A.J., Citterio, E., Rademakers, S., van Os, R., Vermeulen, W., Constantinou, A., Egly, J.M., Bootsma, D. and Hoeijmakers, J.H.J. (1997) The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II containing complex. EMBO J., 16, 5955-5965.
26. Citterio, E., Rademakers, S., van der Horst, G.T.J., van Gool, A.J., Hoeijmakers, J.H.J. and Vermeulen, W. (1998) Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. J. Biol. Chem., 273, 11844-11851.
27. Tantin, D. (1998) RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62. J. Biol. Chem., 273, 27794-27799.
28. Bootsma, D. and Hoeijmakers, J.H.J. (1993) Engagement with transcription. Nature, 363, 114-115.
29. Bootsma, D. and Hoeijmakers, J.H.J. (1994) The molecular basis of nucleotide excision repair syndromes. Mutat. Res., 307, 15-23.
30. Norris, P.G., Arlett, C.F., Cole, J., Lehmann, A.R. and Hawk, J.L. (1991) Abnormal erythemal response and elevated T lymphocyte HRPT mutant frequency in Cockayne's syndrome. Br. J. Dermatol., 124, 453-460.
31. Lehmann, A.R., Thompson, A.F., Harcourt, S.A., Stefanini, M. and Norris, P.O. (1993) Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. J. Med. Genet., 30, 679-682.
32. Mayne, L.V. and Lehmann, A.R. (1982) Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne syndrome and xeroderma pigmentosum. Cancer Res., 42, 1473-1478.
33. Stefanini, M., Giliani, S., Nardo, T., Marinoni, S., Nazzaro, V., Rizzo, R. and Trevisan, G. (1992) DNA repair investigations in nine Italian patients affected by trichothiodystrophy. Mutat. Res., 273, 119-125.
34. Stefanini, M., Lagomarsini, P., Giliani, S., Nardo, T., Botta, E., Peserico, A., Kleijer, W.J., Lehmann, A.R. and Sarasin, A. (1993) Genetic heterogeneity of excision repair defect associated with trichothiodystrophy. Carcinogenesis, 14, 1101-1105.