| First Author | de Boer J | Year | 1998 |
| Journal | Mol Cell | Volume | 1 |
| Issue | 7 | Pages | 981-90 |
| PubMed ID | 9651581 | Mgi Jnum | J:48256 |
| Mgi Id | MGI:1267106 | Doi | 10.1016/s1097-2765(00)80098-2 |
| Citation | de Boer J, et al. (1998) A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol Cell 1(7):981-90 |
| abstractText | 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. |
