Animal Models of DNA Damage Recognition and Processing Disorders

  • Hanspeter Naegeli
Part of the Molecular Biology Intelligence Unit book series (MBIU)


Gene targeting by homologous recombination in embryonic stem cells provides a powerful tool to insert exogenous segments of DNA into specific mammalian genes, thereby producing mutant mice in which the function of the targeted gene is changed or inactivated.1,2 This methodology has already been exploited to generate germ line mutations in genes that participate in various aspects of DNA damage recognition and metabolism. At the time of writing, transgenic mice models have been reported for null (or loss of function) mutations in several nucleotide excision repair genes (XPA,XPC, ERCC1), in mismatch correction genes (PMS2, MSH2), in the gene coding for O 6-methylguanine-DNA methyltransferase, and in the cell cycle checkpoint regulatory genes p53 and ATM.A spontaneously mutated mouse strain (SCID) carries a genetic defect in DNA-PK CS, a gene required for DNA double strand break repair. A knock-out of the regulatory Ku86 subunit of DNA-PK has also been established. Finally, an example of Drosophila melanogaster mutant deficient in the transcription/nucleotide excision repair factor XPB will be mentioned because of its striking phenotype.


Excision Repair Nucleotide Excision Repair Xeroderma Pigmentosum Severe Combine Immunodeficiency Processing Disorder 
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Copyright information

© R.G. Landes Company 1997

Authors and Affiliations

  • Hanspeter Naegeli
    • 1
  1. 1.Institute of Pharmacology and ToxicologyUniversity of Zürich-TierspitalZürichSwitzerland

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