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

Nature Genetics volume 5, pages 217–224 (1993)Cite this article

Abstract

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.

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Authors and Affiliations

  1. Institute of Cell and Molecular Biology, The University of Edinburgh, Mayfield Road, Edinburgh, EH9 3JR, UK

    Jim McWhir, Jim Selfridge & David W. Melton

  2. Department of Pathology, The University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK

    David J. Harrison

  3. Cancer Research Campaign Mammalian Cell DNA Repair Research Group, Department of Zoology, University of Cambridge, Downing Street, Cambridge, CB2 3EJ, UK

    Shoshana Squires

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  1. Jim McWhir
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  2. Jim Selfridge
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  4. Shoshana Squires
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  5. David W. Melton
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McWhir, J., Selfridge, J., Harrison, D. et al. Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning. Nat Genet 5, 217–224 (1993). https://doi.org/10.1038/ng1193-217

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