Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

Nature Genetics

Volumn 20, Issue 2, 1998, Pages 184-188

  Coin, Frédéric ^a   Marinoni, Jean Christophe ^a   Rodolfo, Carlo ^b   Fribourg, Sébastien ^a   Pedrini, Antonia Maria ^b   Egly, Jean Marc ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE;

ARTICLE; BACULOVIRUS; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; ENZYME ACTIVITY; EXCISION REPAIR; GENE MUTATION; GENETIC TRANSCRIPTION; HEREDITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNOBLOTTING; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; TRICHOTHIODYSTROPHY; XERODERMA PIGMENTOSUM;

DNA HELICASES; DNA REPAIR; DNA-BINDING PROTEINS; HAIR DISEASES; HUMANS; MUTATION; PROTEIN CONFORMATION; PROTEINS; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS, TFII; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

UNIDENTIFIED BACULOVIRUS;

EID: 0031666241     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/2491     Document Type: Article

References (27)

1. Taylor, E. et al. 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).
2. Bootsma, D. & Hoeijmakers, J.H.J. DNA repair. Engagement with transcription. Nature 363, 114-115 (1993).
3. Roy, R. et al. The MO15 cell cycle kinase is associated with the TFIIH transcription-DNA repair factor. Cell 79, 1093-1101 (1994).
4. Serizawa, H. et al. Association of Cdk-activating kinase subunits with transcription factor TFIIH. Nature 374, 280-282 (1995).
5. Shiekhattar, R. et al. Cdk-activating kinase complex is a component of human transcription factor TFIIH. Nature 374, 283-287 (1995).
6. Schaeffer, L. et al. DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260, 58-63 (1993).
7. Schaeffer, L. et al. The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor. EMBO J. 13, 2388-2392 (1994).
8. Guzder, S.N. et al. DNA repair gene RAD3 of S. cerevisiae is essential for transcription by RNA polymerase II. Nature 367, 91-94 (1994).
9. Guzder, S.N., Sung, P., Bailly, V., Prakash, L. & Prakash, S. RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription. Nature 369, 578-581 (1994).
10. Gerard, M. et al. Purification and interaction properties of the human RNA poylmerase B(II) general transcription factor BTF2. J. Biol. Chem 266, 20940-20945 (1991).
11. Winkler, G.S. et al. Affinity purification of human DNA repair/transcription factor TFIIH using epitope-tagged xeroderma pigmentosum B protein. J. Biol. Chem. 273, 1092-1098 (1998).
12. Sung, P., Prakash, L., Matson, S.W. & Prakash, S. RAD3 protein of Saccharomyces cerevisiae is a DNA helicase. Proc. Natl Acad. Sci. USA 84, 8951-8955 (1987).
13. Sung, P. et al. Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature 365, 852-855 (1993).
14. Ma. L., Siemssen, E.D., Noteborn, M.H.M. & van der Eb, A.J. The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibit DNA helicase activity. Nucleic Acids Res. 22, 4095-4102 (1994).
15. Reardon, J.T. et al. Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH. Proc. Natl Acad. Sci. USA 93, 6482-6487 (1996).
16. Drapkin, R., Le Roy, G., Cho, H., Akoulitchev, S. & Reinberg, D. Human cyclin-dependent kinase-activating kinase exists in three distinct complexes. Proc. Natl Acad. Sci. USA 93, 6488-6493 (1996).
17. Rossignol, M., Kolb-Cheynel, I. & Egly, J.M. Substrate specificity of the cdk-activating kinase (CAK) is altered upon assocation with TFIIH. EMBO J. 16, 1628-1637 (1997).
18. 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).
19. Iyer, N., Reagan, M.S., Wu, K.J., Canagarajah, B. & Friedberg, E.C. Interactions involving the human RNA polymerase II transcription factor/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein. Biochemistry 35, 2157-2167 (1996).
20. Wood, R.D. Nucleotide excision repair in mammalian cells. J. Biol. Chem. 272, 23465-23468 (1997).
21. Lehmann, A.R. Nucleotide excision repair and the link with transcription. Trends Brachem. Sci. 20, 402-405 (1995).
22. Evans, E., Moggs, J.G., Hwang, J.R., Egly, J.-M. & Wood, R.D. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J. 16, 6559-6573 (1997).
23. Johnson, R.T., Squires, S., Ellion, G.C, Koch, G.L.E. & Rainbow, A.J. Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet sensitivity associated with normal and diminished DNA repair ability, respectively. J. Cell Sci. 76, 115-133 (1985).
24. Bürglen, L. et al. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large scale deletions associated with Werdnig-Hoffmann disease. Am. J. Hum. Genet. 60, 72-79 (1997).
25. Yoon, H., Miller, S.P., Pabich, E.K. & Donahue, T.F. SSL1, a suppressor of a HIS4 5′-UTR stem-loop mutation, is essential for transclation initiation and affects UV resistance in yeast. Genes Dev. 6, 2463-2477 (1992).
26. O'Reilly, D.R., Miller, L.K. & Luckow, V.A. Baculovirus Expression Vectors. A Laboratory Manual (W.H. Freeman, New York, 1992).
27. Roy, R. et al. The DNA-dependent ATPase activity associated with the class II transcription factor BTF2/TFIIH. J. Biol. Chem. 269, 9826-9832 (1994).