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Letter

Nature Genetics 36, 714–719 (1 July 2004) | doi:10.1038/ng1387

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

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

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 reduced.