Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA

Nature. 1995 Sep 14;377(6545):169-73. doi: 10.1038/377169a0.

Abstract

Xeroderma pigmentosum patients with a defect in the nucleotide-excision repair gene XPA are characterized by, for example, a > 1,000-fold higher risk of developing sunlight-induced skin cancer. Nucleotide-excision repair (NER) is involved in the removal of a wide spectrum of DNA lesions. The XPA protein functions in a pre-incision step, the recognition of DNA damage. To permit the functional analysis of the XPA gene in vivo, we have generated XPA-deficient mice by gene targeting in embryonic stem cells. The XPA-/-mice appear normal, at least until the age of 13 months. XPA-/-mice are highly susceptible to ultraviolet (UV)-B-induced skin and eye tumours and to 7,12-dimethylbenz[a]anthracene (DMBA)-induced skin tumours. We conclude that the XPA-deficient mice strongly mimic the phenotype of humans with xeroderma pigmentosum.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 9,10-Dimethyl-1,2-benzanthracene / toxicity*
  • Animals
  • Cells, Cultured
  • DNA Repair / genetics*
  • DNA-Binding Proteins / genetics*
  • Eye Neoplasms / chemically induced
  • Eye Neoplasms / etiology
  • Eye Neoplasms / genetics
  • Eye Neoplasms / pathology
  • Gene Deletion
  • Gene Targeting
  • Genetic Predisposition to Disease
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Neoplasms, Radiation-Induced / genetics
  • Radiation Tolerance
  • Skin Neoplasms / chemically induced
  • Skin Neoplasms / etiology
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Ultraviolet Rays*
  • Xeroderma Pigmentosum / genetics*
  • Xeroderma Pigmentosum Group A Protein

Substances

  • DNA-Binding Proteins
  • XPA protein, human
  • Xeroderma Pigmentosum Group A Protein
  • Xpa protein, mouse
  • 9,10-Dimethyl-1,2-benzanthracene