A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2004-06-27

AUTHORS

Giuseppina Giglia-Mari, Frederic Coin, Jeffrey A Ranish, Deborah Hoogstraten, Arjan Theil, Nils Wijgers, Nicolaas G J Jaspers, Anja Raams, Manuela Argentini, P J van der Spek, Elena Botta, Miria Stefanini, Jean-Marc Egly, Ruedi Aebersold, Jan H J Hoeijmakers, Wim Vermeulen

ABSTRACT

DNA repair-deficient trichothiodystrophy (TTD) results from mutations in the XPD and XPB subunits of the DNA repair and transcription factor TFIIH. In a third form of DNA repair–deficient TTD, called group A, none of the nine subunits encoding TFIIH carried mutations; instead, the steady-state level of the entire complex was severely reduced1. A new, tenth TFIIH subunit (TFB5) was recently identified in yeast2. Here, we describe the identification of the human TFB5 ortholog and its association with human TFIIH. Microinjection of cDNA encoding TFB5 (GTF2H5, also called TTDA) corrected the DNA-repair defect of TTD-A cells, and we identified three functional inactivating mutations in this gene in three unrelated families with TTD-A. The GTF2H5 gene product has a role in regulating the level of TFIIH. The identification of a new evolutionarily conserved subunit of TFIIH implicated in TTD-A provides insight into TFIIH function in transcription, DNA repair and human disease. More... »

PAGES

714-719

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1387

DOI

http://dx.doi.org/10.1038/ng1387

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022510919

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15220921


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