High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC

Nature. 1995 Sep 14;377(6545):162-5. doi: 10.1038/377162a0.

Abstract

Compromise of genetic information by mutation may result in the dysregulation of cellular growth control and subsequent tumour formation. Xeroderma pigmentosum (XP) is a rare autosomal disease characterized by hypersensitivity of the skin to sunlight and > 1,000-fold increased risk of skin cancers in sun-exposed parts of the body. Cell fusion studies have revealed eight complementation groups in XP (A-G, and an XP-variant form); group C is one of the most common forms of the disease. We have isolated a mouse homologue of the human gene for XP group C and generated XPC-deficient mice by using embryonic stem cell technology. Mice homozygous for the XPC mutant allele (xpcm1/xpcm1) are viable and do not exhibit an increased susceptibility to spontaneous tumour generation at one year of age. However, xpcm1/xpcm1 mice were found to be highly susceptible to ultraviolet-induced carcinogenesis compared with mice heterozygous for the mutant allele (xpcm1/+) and wild-type controls. Homozygous xpcm1 mutant mice also display a spectrum of ultraviolet-exposure-related pathological skin and eye changes consistent with the human disease xeroderma pigmentosum group C.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Division / radiation effects
  • Cells, Cultured
  • Cloning, Molecular
  • DNA Damage
  • DNA Primers
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Fibroblasts / radiation effects
  • Gene Deletion
  • Gene Targeting
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Neoplasms, Radiation-Induced / genetics*
  • Radiation Tolerance / genetics
  • Sequence Homology, Amino Acid
  • Skin / pathology
  • Skin / radiation effects
  • Skin Neoplasms / etiology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Ultraviolet Rays*
  • Xeroderma Pigmentosum / genetics*

Substances

  • DNA Primers
  • DNA-Binding Proteins
  • Xpc protein, mouse
  • XPC protein, human

Associated data

  • GENBANK/U40005