Our hosting provider will be performing UPS maintenance on Tuesday, Oct 25, 2016 between 8 AM and 5 PM PDT. SciCrunch searching services will be down during this time.

Preparing your results

Our searching services are busy right now. Your search will reload in five seconds.

Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

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


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.

Pubmed ID: 9651581


  • de Boer J
  • de Wit J
  • van Steeg H
  • Berg RJ
  • Morreau H
  • Visser P
  • Lehmann AR
  • Duran M
  • Hoeijmakers JH
  • Weeda G


Molecular cell

Publication Data

June 29, 1998

Associated Grants


Mesh Terms

  • Animals
  • Artificial Gene Fusion
  • Cells, Cultured
  • DNA Helicases
  • DNA Repair
  • DNA-Binding Proteins
  • Disease Models, Animal
  • Female
  • Growth
  • Hair
  • Hair Diseases
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Mutagenesis, Site-Directed
  • Mutation
  • Proteins
  • Skin
  • Survival Analysis
  • Syndrome
  • Transcription Factors
  • Transcription, Genetic
  • Xeroderma Pigmentosum
  • Xeroderma Pigmentosum Group D Protein