Human DNA repair systems: an overview

Environ Mol Mutagen. 1999;33(1):3-20. doi: 10.1002/(sici)1098-2280(1999)33:1<3::aid-em2>;2-l.


DNA repair systems act to maintain genome integrity in the face of replication errors, environmental insults, and the cumulative effects of age. More than 70 human genes directly involved in the five major pathways of DNA repair have been described, including chromosomal location and cDNA sequence. However, a great deal of information as to the precise functions of these genes and their role in human health is still lacking. Hence, we summarize what is known about these genes and their contra part in bacterial, yeast, and rodent systems and discuss their involvement in human disease. While some associations are already well understood, it is clear that additional diseases will be found which are linked to DNA repair defects or deficiencies.

Publication types

  • Review

MeSH terms

  • Animals
  • Apoptosis / genetics
  • Base Pair Mismatch / genetics
  • Cell Cycle / genetics
  • DNA Fragmentation / genetics
  • DNA Glycosylases
  • DNA Repair*
  • Deoxyribodipyrimidine Photo-Lyase / genetics
  • Humans
  • N-Glycosyl Hydrolases / genetics
  • O(6)-Methylguanine-DNA Methyltransferase / genetics


  • O(6)-Methylguanine-DNA Methyltransferase
  • DNA Glycosylases
  • N-Glycosyl Hydrolases
  • Deoxyribodipyrimidine Photo-Lyase