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. 1998 Jun;1(7):981-90.
doi: 10.1016/s1097-2765(00)80098-2.

A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy

J de Boer  1 , J de Wit, H van Steeg, R J Berg, H Morreau, P Visser, A R Lehmann, M Duran, J H Hoeijmakers, G Weeda
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Free article

A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy

J de Boer et al. Mol Cell. 1998 Jun.
Free article

Abstract

The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH. The phenotype is hypothesized to be in part derived from a nucleotide excision repair defect and in part from a subtle basal transcription deficiency accounting for the nonrepair TTD features. Using a novel gene-targeting strategy, we have mimicked the causative XPD point mutation of a TTD patient in the mouse. TTD mice reflect to a remarkable extent the human disorder, including brittle hair, developmental abnormalities, reduced life span, UV sensitivity, and skin abnormalities. The cutaneous symptoms are associated with reduced transcription of a skin-specific gene strongly supporting the concept of TTD as a human disease due to inborn defects in basal transcription and DNA repair.

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