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

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Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS _C. ELEGANS_ TFIIH SUBUNIT GTF-2H5/TTDA IS A NON-ESSENTIAL TRANSCRIPTION FACTOR INDISPENSABLE FOR DNA REPAIR Article Open

access 25 November 2021 PERSISTENT TFIIH BINDING TO NON-EXCISED DNA DAMAGE CAUSES CELL AND DEVELOPMENTAL FAILURE Article Open access 25 April 2024 TRANSCRIPTION-COUPLED REPAIR OF DNA–PROTEIN

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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 Médicale. This work was supported by

grants from the Institut National de la Santé et de la Recherche Médicale, the Centre National de la Recherche Scientifique, the Hôpital 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. AUTHOR INFORMATION Author notes * Wim Vermeulen and Etienne Bergmann: These authors contributed equally to this work. AUTHORS AND AFFILIATIONS * Department of Cell Biology and

Genetics, Medical Genetics Center, Erasmus University, Rotterdam, The Netherlands Wim Vermeulen, Suzanne Rademakers, Esther Appeldoorn & Jan H.J. Hoeijmakers * Institut de Génétique et

de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université Louis Pasteur, Strasbourg, France Etienne Bergmann, Jérôme Auriol, Philippe Frit & Jean-Marc Egly Authors * Wim Vermeulen

View author publications You can also search for this author inPubMed Google Scholar * Etienne Bergmann View author publications You can also search for this author inPubMed Google Scholar *

Jérôme Auriol View author publications You can also search for this author inPubMed Google Scholar * Suzanne Rademakers View author publications You can also search for this author inPubMed

 Google Scholar * Philippe Frit View author publications You can also search for this author inPubMed Google Scholar * Esther Appeldoorn View author publications You can also search for this

author inPubMed Google Scholar * Jan H.J. Hoeijmakers View author publications You can also search for this author inPubMed Google Scholar * Jean-Marc Egly View author publications You can

also search for this author inPubMed Google Scholar CORRESPONDING AUTHORS Correspondence to Jan H.J. Hoeijmakers or Jean-Marc Egly. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS

ARTICLE CITE THIS ARTICLE Vermeulen, W., Bergmann, E., Auriol, J. _et al._ Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. _Nat

Genet_ 26, 307–313 (2000). https://doi.org/10.1038/81603 Download citation * Received: 12 July 2000 * Accepted: 12 September 2000 * Issue Date: November 2000 * DOI:

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