Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

1. Hoeijmakers, J.H.J. Nucleotide excision repair II: from yeast to mammals. Trends Genet. 9, 211−217 (1993).
2. Itin, P.H. & Pittelkow, M.R. Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J. Am. Acad. Dermatol., 20, 705−717 (1990).
3. Stefanini, M. et al. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum. Genet. 74, 107−112 (1986).
4. Stefanini, M. et al. DNA repair investigations in nine Italian patients affected by trichothiodystrophy. Mutation Res. 273, 119−125 (1992).
5. Stefanini, M. et al. Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis 14, 1101−1105 (1993).
6. Stefanini, M. et al. A new nucleotide excision repair gene associated with the genetic disorder trichothiodystrophy. Am. J. hum. Genet. 53, 817−821 (1993).
7. Lehmann, A.R. and Norris, P.G. DNA repair and cancer: speculations based on studies with xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Carcinogenesis, 10, 1353−1356 (1989).
8. Weber, C.A., Salazar, E.P., Stewart, S.A. & Thompson, L.H. Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells. Molec. cell Biol. 8, 1137−1146 (1988).
9. Lehmann, A.R. et al. Workshop on DNA repair. Mutation Res. 273, 1−28 (1992).
10. Flejter, W.L., McDaniel, L.D., Johns, D., Friedberg, E.C. & Schultz, R.A. Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: Involvement of the human ERCC2 DNA repair gene. Proc. natn. Acad. Sci. U.S.A. 89, 261−265 (1992).
11. Weber, C.A., Salazar, E.P., Stewart, S.A. & Thompson, L.H. ERCC-2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. EMBO J. 9, 1437−1448 (1990).
12. Murray, J.M. et al. Cloning and characterisation of the S. pombe rad 15 gene, a homologue to the S. cerevisiae RAD3 and human ERCC2 genes. Nucl. Acids Res. 20, 2673−2678 (1992).
13. Reynolds, P.R., Biggar, S., Prakash, L. & Prakash, S. The Schizosaccharomyces pombe rhp3⁺ gene required for DNA repair and cell viability is functionally interchangeable with the RAD3 gene of Saccharomyces cerevisiae. Nucl. Acids Res. 20, 2327−2334 (1992).
14. Sung, P., Prakash, L., Matson, S.W. & Prakash, S. RAD3 protein of Saccharomyces cerevisiae is a DNA helicase. Proc. natn. Acad. Sci. U.S.A. 84, 8951−8955 (1987).
15. Sung, P. et al. Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature 365, 852−855 (1993).
16. Schaeffer, L. et al. DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260, 58−63 (1993).
17. Drapkin, R. et al. Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II. Nature 368, 769−772 (1994).
18. Feaver, W.J. et al. Dual roles of a multiprotein complex from S. cerevisiae in transcription and DNA repair. Cell 75, 1379−1387 (1993).
19. Lehmann, A.R. et al. Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light. Cancer Res. 48, 6090−6096 (1988).
20. Broughton, B.C. et al. Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: Studies using cells from patients with triohothiodystrophy. Mutation Res. 235, 33−40 (1990).
21. Tolmie, J.L. et al. Syndromes associated with trichothiodystrophy. Clin. Dysmorphol. 3, 1−14 (1994).
22. King, M.D., Gummer, C.L. & Stephenson, J.B.P. Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. J. med. Genet. 21, 286−289 (1984).
23. Cooper, D.N. & Krawzcak, M. The mutational spectrum of single base-pair substitutions causing human genetic disease in patterns and predictions. Hum. Genet. 85, 55−74 (1990).
24. Streisinger, G. et al. Frameshift mutations and the genetic code. Cold Spring Harbour Symp. Quant. Biol. 31, 77−84 (1966).
25. Bailly, V., Sung, P., Prakash, L. & Prakash, S. DNA.RNA helicase activity of RAD3 protein of Saccharomyces cerevisiae. Proc. natn. Acad. Sci. U.S.A. 88, 9712−9716 (1991).
26. Naegeli, H., Bardwell, L., Harosh, I. & Friedberg, E.C. Substrate specificity of the Rad3 ATPase/DNA helicase of Saccharomyces cerevisiae and binding of Rad3 protein to nucleic acids. J. biol. Chem. 267, 7839−7844 (1992).
27. Friedberg, E.C. Deoxyribonucleic acid repair in the yeast Saccharomyces cerevisiae. Microbiol. Rev. 52, 70−102 (1988).
28. Naumovski, L. & Friedberg, E.C. Analysis of the essential and excision repair functions of the RAD3 gene of Saccharomyces cerevisiae by mutagenesis. Molec. cell. Biol. 6, 1218−1227 (1986).
29. Song, J.M., Montelone, B.A., Siede, W. & Friedberg, E.C. Effects of multiple yeast rad3 mutant alleles on UV sensitivity, mutability, and mitotic recombination. J. Bacteriology 172, 6620−6630 (1990).
30. Gorbalenya, A.E., Koonin, E.V., Donchenko, A.P. & Blinov, V.M. Two related super families of putative helicases involved in replication, recombination, repair and expression of DNA and RNA genomes. Nucl. Acids Res. 17, 4713−4730 (1989).
31. Harosh, I. & Deschavanne, P. The RAD3 gene is a member of the DEAH family RNA helicase-like protein. Nucl. Acids Res. 19, 6331 (1991).
32. Sung, P., Higgins, D., Prakash, L. & Prakash, S. Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP. EMBO J., 7, 3263−3269 (1988).
33. Kovalic, D., Kwak, J.-H. & Weisblum, B. General method for direct cloning of DNA fragments generated by the polymerase chain reaction. Nucl. Acids Res. 19, 4560 (1991).

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