Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition

Cancer Res. 1999 Jul 15;59(14):3489-94.

Abstract

Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the same XPD gene. XPD encodes a helicase subunit of the dually functional DNA repair/basal transcription complex TFIIH. The pleiotropic disease phenotype is hypothesized to be, in part, derived from a repair defect causing UV sensitivity and, in part, from a subtle, viable basal transcription deficiency accounting for the cutaneous, developmental, and the typical brittle hair features of TTD. To understand the relationship between deficient NER and tumor susceptibility, we used a mouse model for TTD that mimics an XPD point mutation of a TTD patient in the mouse germline. Like the fibroblasts from the patient, mouse cells exhibit a partial NER defect, evident from the reduced UV-induced DNA repair synthesis (residual repair capacity approximately 25%), limited recovery of RNA synthesis after UV exposure, and a relatively mild hypersensitivity to cell killing by UV or 7,12-dimethylbenz[a]anthracene. In accordance with the cellular studies, TTD mice exhibit a modestly increased sensitivity to UV-induced inflammation and hyperplasia of the skin. In striking contrast to the human syndrome, TTD mice manifest a dear susceptibility to UV- and 7,12-dimethylbenz[a]anthracene-induced skin carcinogenesis, albeit not as pronounced as the totally NER-deficient XPA mice. These findings open up the possibility that TTD is associated with a so far unnoticed cancer predisposition and support the notion that a NER deficiency enhances cancer susceptibility. These findings have important implications for the etiology of the human disorder and for the impact of NER on carcinogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 9,10-Dimethyl-1,2-benzanthracene / toxicity
  • Alleles
  • Animals
  • Cockayne Syndrome / genetics
  • DNA Helicases*
  • DNA Repair / genetics*
  • DNA-Binding Proteins*
  • Disease Models, Animal*
  • Fibroblasts / pathology
  • Fibroblasts / radiation effects
  • Gene Targeting
  • Genetic Predisposition to Disease
  • Growth Disorders / genetics*
  • Growth Disorders / pathology
  • Hair Diseases / genetics*
  • Hair Diseases / pathology
  • Humans
  • Hyperplasia
  • Ichthyosis / genetics*
  • Ichthyosis / pathology
  • Mice
  • Mice, Inbred C57BL
  • Neoplastic Syndromes, Hereditary / genetics*
  • Point Mutation*
  • Proteins / genetics
  • Proteins / physiology
  • Radiation Tolerance / genetics
  • Skin / pathology
  • Skin / radiation effects
  • Skin Neoplasms / chemically induced
  • Skin Neoplasms / genetics*
  • Transcription Factor TFIIH
  • Transcription Factors / deficiency
  • Transcription Factors / genetics*
  • Transcription Factors / physiology
  • Transcription Factors, TFII*
  • Transcription, Genetic / genetics*
  • Ultraviolet Rays
  • Xeroderma Pigmentosum / genetics
  • Xeroderma Pigmentosum Group D Protein

Substances

  • DNA-Binding Proteins
  • Proteins
  • Transcription Factors
  • Transcription Factors, TFII
  • Transcription Factor TFIIH
  • 9,10-Dimethyl-1,2-benzanthracene
  • DNA Helicases
  • Xeroderma Pigmentosum Group D Protein
  • ERCC2 protein, human
  • Ercc2 protein, mouse