Cockayne syndrome - A primary defect in DNA repair, transcription, both or neither?

BioEssays

Volumn 18, Issue 9, 1996, Pages 731-738

  Friedberg, Errol C ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0029850732     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.950180908     Document Type: Review

References (55)

1. Cockayne, E. A. (1936). Dwarfism with retinal atrophy and deafness. Arch. Dis. Child. 11, 1-8.
2. Nance, M. A. and Berry, S. A. (1992). Cockayne syndrome: review of 140 cases. Am. J. Med. Genet. 42, 68-84.
3. Schmickel, R. D., Chu, E. H. Y., Trosko, J. E. and Chang, C. C. (1977). Cockayne syndrome: a cellular sensitivity to ultraviolet light. Pediatrics 60, 135-139.
4. Friedberg, E. C., Walker, G. C. and Siede, W. (1995). DNA Repair and Mutagenesis. ASM Press, Washington, DC.
5. Parris, C. N. and Kraemer, K. H. (1993). Ultraviolet-induced mutations in Cockayne syndrome cells are primarily caused by cyclobutane dimer photoproducts while repair of other photoproducts is normal. Proc. Natl Acad. Sci. USA 90, 7260-7264.
6. Itoh, T. et al. (1996). Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A. Mutat. Res. 362, 167-174.
7. Squires, S., Anderson, J. R., Strutt, H. L. and Johnson, R. T. (1993). Hypersensitivity of Cockayne's syndrome cells to camptothecin is associated with the generation of abnormally high levels of double strand breaks in nascent DNA. Cancer Res. 53, 2012-2019.
8. Squires, S., Oates, D. J., Bouffler, S. D. and Johnson, R. T. (1992). Cockayne's syndrome fibroblasts are characterized by hypersensitivity to deoxyguanosine and abnormal DNA precursor pool metabolism in response to deoxyguanosine or ultraviolet light. Somatic Cell Mol Genet. 18, 387-401.
9. Lehmann, A. R., Kirk-Bell, S. and Mayne, L. (1979). Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome. Cancer Res. 39, 4237-4241.
10. 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's syndrome and xeroderma pigmentosum. Cancer Res. 42, 1473-1478.
11. Tanaka, K., Kawai, K., Kumahara, Y., Ikenaga, M. and Okada, Y. (1981). Genetic complementation groups in Cockayne syndrome. Somatic Cell Genet. 7, 445-455.
12. Lehmann, A. R. (1982). Three complementation groups in Cockayne syndrome. Mutat. Res. 106, 347-356.
13. Stefanini, M., Fawcett, H., Botta, E., Nardo, T. and Lehmann, A. R. (1996). Genetic analysis of 22 patients with Cockayne syndrome. Hum. Genet. 97, 418-423.
14. Hanawalt, P. C. (1992). Transcription-dependent and transcription coupled DNA repair responses. In DNA Repair Mechanisms (ed. V. A. Bohr, K. Wasserman and K. H. Kraemer), pp. 231-246. Munksgaard, Copenhagen.
15. Hanawalt, P. C. (1994). Transcription-coupled repair and human disease. Science 266, 1957-1958.
16. Mellon, I. and Hanawalt, P. C. (1989). Induction of the Escherichia coli lactose operon selectively increases repair of its transcribed DNA strand. Nature 342, 95-98.
17. Venema, J., Mullenders, L. H. F., Natarajan, A. T., van Zeeland, A. A. and Mayne, L. V. (1990). The genetic defect in Cockayne's syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc. Natl Acad. Sci. USA 87, 4704-4711.
18. Mullenders, L. H. F. et al. (1992). Genomic heterogeneity of UV-induced repair: relationship to chromatin structure and transcriptional activity. In DNA Repair Mechanisms (ed. V. A. Bohr, K. Wasserman and K. H. Kraemer), pp. 247-254. Munksgaard, Copenhagen.
19. van Hoffen, A. et al. (1993). Deficient repair of the transcribed strand of active genes in Cockayne's syndrome. Nucleic Acids Res. 21, 5890-5895.
20. Venema, J. (1991). Gene specific repair of UV-induced DNA damage in mammalian cells. PhD Thesis, University of Leiden, The Netherlands.
21. Christians, F. C. and Hanawalt, P. C. (1994). Repair in ribosomal RNA is deficient in xeroderma pigmentosum group C and in Cockayne's syndrome cells. Mutat. Res. 323, 179-187.
22. Leadon, S. A. and Cooper, P. K. (1993). Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active gene is defective in Cockayne syndrome. Proc. Natl Acad. Sci. USA 90, 10499-10503.
23. Wang, G., Seidman, M. M. and Glazer, P. M. (1996). Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair. Science 271, 802-805.
24. Kantor, G. J. and Bastin, S. A. (1995). Repair of some active genes in Cockayne syndrome is at the genome overall rate. Mutat. Res. 336, 223-233.
25. van Gool, A. J. et al. (1994). RAD26, the functional homolog of the Cockayne syndrome B gene ERCC6. EMBO J. 13, 5361-5369.
26. Verhage, R. et al. (1996). Double mutants of Saccharomyces cerevisiae with alterations in global genome and transcription-coupled repair. Mol. Cell. Biol. 16, 496-502.
27. Peterson, L. N., Stevnsner, T. and Bohr, V. A. (1995). DNA repair in a UV resistant Chinese hamster ovary cell line. Carcinogenesis 12, 3075-3081.
28. Selby, C. P. and Sancar, A. (1993). Molecular mechanism of transcription-repair coupling. Science 260, 53-58.
29. Selby, C. P. and Sancar, A. (1993). Transcription-repair coupling and mutation frequency decline. J. Bacteriol. 175, 7509-7514.
30. Selby, C. P., Witkin, E. M. and Sancar, A. (1991). Escherichia coli mfd mutant deficient in 'mutation frequency decline' lacks strand-specific repair: in vitro complementation with purified coupling factor. Proc. Natl Acad. Sci. USA 88, 11574-11578.
31. Mellon, I. and Champe, G. N. (1996). Products of DNA mismatch repair genes mutS and mutL are required for transcription-coupled nucleotide-excision repair of the lactose operon of Escherichia coli. Proc. Natl Acad. Sci. USA 93, 1292-1297.
32. Friedberg, E. C. (1996). Relationships between DNA repair and transcription. Annu. Rev. Biochem 65, 1-28.
33. Eisen, J. A., Sweder, K. S. and Hanawalt, P. C. (1995). Evolution of the SNF2 family of proteins: subfamilies with distinct sequences and functions. Nucleic Acids Res. 23, 2715-2723.
34. Satoh, M. S., Jones, C. J., Wood, R. D. and Lindahl, T. (1993). DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions. Proc. Natl Acad. Sci. USA 90, 6335-6339.
35. 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 helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 71, 939-953.
36. Wolffe, A. (1994). Switched-on chromatin. Curr. Biol. 4, 525-528.
37. Peterson, C. and Tamkun, J. W. (1995). The SWI-SNF complex: a chromatin remodeling machine? Trends Biochem. Res 20, 143-146.
38. Nowak, R. (1995). Molecular machines may aid gene expression. Science 270, 1589-1590.
39. Tsukiyama, T. and Wu, C. (1995). Purification and properties of an ATP-dependent nucleosome remodeling factor. Cell 83, 1011-1020.
40. Tsukiyama, T., Daniel, C., Tamkun, J. and Wu, C. (1995). ISWI, a member of the SWI2/SNF2 ATPase family, encodes the 140 kDa subunit of the nucleosome remodeling factor. Cell 83, 1021-1026.
41. Henning, K. A. 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.
42. Neer, E. J., Schmidt, C. J., Nambudripad, R. and Smith, T. F. (1994). The ancient regulatory-protein family of WD-repeat proteins. Nature 371, 297-300.
43. Scott, R. J., Itin, P., Kleijer, W. J., Kolb, K., Arlett, C. and Muller, H. (1993). Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. J. Am. Acad. Dermatol. 29, 883-889.
44. Vermeulen, W., Jaeken, J., Jaspers, N. G. J., Bootsma, D. and Hoeijmakers, J. H. J. (1993). Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am. J. Hum. Genet. 53, 185-192.
45. Kraemer, K. H. et al. (1994). Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer. J. Invest. Dermatol. 103, 96S-101S.
46. Bootsma, D. and Hoeijmakers, J. H. J. (1993). Engagement with transcription. Nature 363, 114-115.
47. Friedberg, E. C., Bardwell, A. J., Bardwell, L., Wang, Z. and Dianov, G. (1994). Transcription and nucleotide excision repair-reflections, considerations and recent biochemical insights. Mutat. Res. 307, 5-14.
48. Cleaver, J. E. and Hultner, M. L. (1995). Transcription-related human disorders. Am. J. Hum. Genet. 56, 1257-1261.
49. Iyer, N., Reagan, M. S., Wu, K.-J., Canagarajah, B. and Friedberg, E. C. (1996). Interactions involving the human RNA polymerase II transcription/nucleotide excision repair factor TFIIH, the nucleotide excision repair protein XPG and Cockayne syndrome group B (CSB) protein. Biochemistry 35, 2157-2167.
50. Venema, J., Bartosová, Z., Natarajan, A. T., van Zeeland, A. A. and Mullenders, L. H. F. (1992). Transcription affects the rate but not the extent of repair of cyclobutane pyrimidine dimers in the human adenosine deaminase gene. J. Biol. Chem. 267, 8852-8856.
51. Evans, M. K., Khew-Voon, C., Gottesman, M. and Bohr, V. A. (1996). Genespecific DNA repair and steady state transcription of the MDR1 gene in human tumor cell lines. Oncogene 12, 651-658.
52. Itoh, T., Cleaver, J. E. and Yamalzumi, M. (1996). Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype. Hum. Genet. 97, 176-179.
53. Greenhaw, G. A. et al. (1992). Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am. J. Hum. Genet. 50, 677-689.
54. Savitsky, K. et al. (1995). A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268, 1749-1753.
55. Ellis, N. A. et al. (1995). The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83, 655-666.