@article{0eaa7ca24ca1485d990b3e3c7afa47e9,
title = "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder",
abstract = "The repair-deficient form of trichothiodystrophy (TTD) most often results from mutations in the genes XPB or XPD, encoding helicases of the transcription/repair factor TFIIH. The genetic defect in a third group, TTD-A, is unknown, but is also caused by dysfunctioning TFIIH. None of the TFIIH subunits carry a mutation and TFIIH from TTD-A cells is active in both transcription and repair. Instead, immunoblot and immunofluorescence analyses reveal a strong reduction in the TFIIH concentration. Thus, the phenotype of TTD-A appears to result from sublimiting amounts of TFIIH, probably due to a mutation in a gene determining the complex stability. The reduction of TFIIH mainly affects its repair function and hardly influences transcription.",
author = "Wim Vermeulen and Etienne Bergmann and J{\'e}r{\^o}me Auriol and Suzanne Rademakers and Philippe Frit and Esther Appeldoorn and Hoeijmakers, {Jan H.J.} and Egly, {Jean Marc}",
note = "Funding Information: We thank D. Bootsma for support; F. Coin, N.G.J. Jaspers, A. Lehman, M. Stefanini, G.S. Winkler and G. Weeda for discussions; A. Fery and J.L. Weickert for technical assistance; A. Raams for cell culture; and S. Vicaire for DNA sequencing. E.B. was supported by a Ligue Nationale Contre le Cancer fellowship, J.A. by la Fondation pour la Recherche M{\'e}dicale. This work was supported by grants from the Institut National de la Sant{\'e} et de la Recherche M{\'e}dicale, the Centre National de la Recherche Scientifique, the H{\^o}pital Universitaire de Strasbourg, by HFSP and EEC grants to both J.M.E. and J.H.J.H., the Association pour la Recherche sur le Cancer, by the Dutch Cancer Society, a NIH programme to J.H.J.H., the Research Institute for Diseases in the Elderly, funded by the Ministry of Education & Science and the Ministry of Health, Welfare and Sports, through the Netherlands Organization for Scientific Research (NWO) and the Louis Jeantet Foundation.",
year = "2000",
doi = "10.1038/81603",
language = "English",
volume = "26",
pages = "307--313",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}