Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.
作者： Frédéric Coin , Jean-Christophe Marinoni , Carlo Rodolfo , Sébastien Fribourg , Antonia Maria Pedrini
DOI: 10.1038/2491
关键词:
摘要: … XP-D and TTD patients, accounting for their phenotypes 23 . … with XPD have been described with an XP-D phenotype. The … for the NER defect observed in XP-D patients. This does not …
nature.com
sci-hub.se 参考文章(29)
P. Sung, D. Higgins, L. Prakash, S. Prakash, 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 The EMBO Journal. ,vol. 7, pp. 3263- 3269 ,(1988) , 10.1002/J.1460-2075.1988.TB03193.X
L Bürglen, A Munnich, E V Pequignot, J Melki, P Burlet, J M Egly, P Miniou, S Lefebvre, T Seroz, The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. American Journal of Human Genetics. ,vol. 60, pp. 72- 79 ,(1997)
ED Harlow, David Lane, A Laboratory manual Cold Spring Harbor Laboratory. ,(1989)
Lois K. Miller, Verne A. Luckow, David R. O'Reilly, Baculovirus expression vectors: a laboratory manual. Baculovirus expression vectors: a laboratory manual.. ,(1992)
R. Roy, L. Schaeffer, S. Humbert, W. Vermeulen, G. Weeda, J.M. Egly, The DNA-dependent ATPase activity associated with the class II basic transcription factor BTF2/TFIIH. Journal of Biological Chemistry. ,vol. 269, pp. 9826- 9832 ,(1994) , 10.1016/S0021-9258(17)36958-2
M. Gerard, L. Fischer, V. Moncollin, J.M. Chipoulet, P. Chambon, J.M. Egly, Purification and interaction properties of the human RNA polymerase B(II) general transcription factor BTF2. Journal of Biological Chemistry. ,vol. 266, pp. 20940- 20945 ,(1991) , 10.1016/S0021-9258(18)54801-8
P. Sung, L. Prakash, S. W. Matson, S. Prakash, RAD3 protein of Saccharomyces cerevisiae is a DNA helicase. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 84, pp. 8951- 8955 ,(1987) , 10.1073/PNAS.84.24.8951
Narayan Iyer, Michael S. Reagan, Kou-Juey Wu, Bertram Canagarajah, Errol C. Friedberg, Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein Biochemistry. ,vol. 35, pp. 2157- 2167 ,(1996) , 10.1021/BI9524124
D. Bootsma, J. H. J. Hoeijmakers, ENGAGEMENT WITH TRANSCRIPTION Nature. ,vol. 363, pp. 114- 115 ,(1993) , 10.1038/363114A0
R. Drapkin, G. Le Roy, H. Cho, S. Akoulitchev, D. Reinberg, Human cyclin-dependent kinase-activating kinase exists in three distinct complexes. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 93, pp. 6488- 6493 ,(1996) , 10.1073/PNAS.93.13.6488