Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning

Nat Genet. 1993 Nov;5(3):217-24. doi: 10.1038/ng1193-217.


Defects in nucleotide excision repair are associated with the human condition xeroderma pigmentosum which predisposes to skin cancer. Mice with defective DNA repair were generated by targeting the excision repair cross complementing gene (ERCC-1) in the embryonic stem cell line, HM-1. Homozygous ERCC-1 mutants were runted at birth and died before weaning with liver failure. Examination of organs revealed polyploidy in perinatal liver, progressing to severe aneuploidy by 3 weeks of age. Elevated p53 levels were detected in liver, brain and kidney, supporting the hypothesised role for p53 as a monitor of DNA damage.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Brain / metabolism
  • Cell Nucleus / pathology
  • Cells, Cultured
  • DNA Damage / genetics
  • DNA Primers
  • DNA Repair / genetics*
  • DNA-Binding Proteins*
  • Endonucleases*
  • Homozygote
  • Kidney / metabolism
  • Liver / metabolism
  • Liver / pathology
  • Liver Failure / genetics*
  • Liver Failure / mortality
  • Liver Failure / pathology
  • Mice
  • Mice, Inbred BALB C
  • Molecular Sequence Data
  • Proteins / genetics*
  • Proteins / physiology
  • Tumor Suppressor Protein p53 / metabolism*


  • DNA Primers
  • DNA-Binding Proteins
  • Proteins
  • Tumor Suppressor Protein p53
  • Endonucleases
  • Ercc1 protein, mouse