Human DNA Repair Genes

  title={Human DNA Repair Genes},
  author={Richard D. Wood and Michael Mitchell and John G. Sgouros and Tomas Lindahl},
  pages={1284 - 1289}
Cellular DNA is subjected to continual attack, both by reactive species inside cells and by environmental agents. Toxic and mutagenic consequences are minimized by distinct pathways of repair, and 130 known human DNA repair genes are described here. Notable features presently include four enzymes that can remove uracil from DNA, seven recombination genes related to RAD51, and many recently discovered DNA polymerases that bypass damage, but only one system to remove the main DNA lesions induced… 
Mechanisms of human DNA repair: an update.
Genetic Variations in DNA Repair
Although, on an individual basis, SNPs may cause only small changes in repair activity, their presence at polymorphic frequencies in the human population may contribute to a high proportion of cancer cases and the variation of interindividual responses to cancer therapies.
Cellular Response to DNA Damage
Abstract: Eukaryotic cells, from yeast to man, possess evolutionarily conserved mechanisms to accurately and efficiently repair the overwhelming majority of DNA damage, thereby ensuring genomic
Molecular Mechanisms of DNA Damage and Repair
The mechanisms of DNA repair are important to understand, not only in regard to radiation damage repair, but also because their absence or inhibition may play a role in the genetic predisposition to cancer or the response of tissues to DNA-damaging chemotherapy agents.
DNA damage and repair: from molecular mechanisms to health implications.
Although DNA repair has received little attention as a determinant of drug sensitivity, emerging knowledge of mutations and polymorphisms in key human DNA-repair genes may provide a rational basis for improved strategies for therapeutic interventions on a number of tumors and degenerative disorders.
Oxidatively induced DNA damage and its repair in cancer.
  • M. Dizdaroglu
  • Biology, Medicine
    Mutation research. Reviews in mutation research
  • 2015
DNA Repair Polymerases
This chapter will detail the DNA polymerases central to the major mammalian DNA repair pathways and, where applicable, highlight the unique roles theseDNA polymerases may play in protecting normal cells from mutagenic or genotoxic agents and in providing resistance togenotoxic chemotherapeutic treatments.
Databases and Bioinformatics Tools for the Study of DNA Repair
This paper reviews bioinformatics resources specialized in disseminating information about DNA repair pathways, proteins involved in repair mechanisms, damaging agents, and DNA lesions and concludes that the current literature on DNA damage response system is inadequate.
Assays to Determine DNA Repair Ability
This review focused on the current knowledge of different assays developed to evaluate DNA repair capacity (DRC), which have been successfully applied in (1) in vitro studies, (2) epidemiological studies in patients with cancer or other different pathologies, and (3) environmentally or occupationally exposed populations.


Quality control by DNA repair.
In some cases, DNA damage is not repaired but is instead bypassed by specialized DNA polymerases, and the integrity of the genetic information is compromised.
The DNA damage response: putting checkpoints in perspective
The inability to repair DNA damage properly in mammals leads to various disorders and enhanced rates of tumour development, and this work has shown that direct activation of DNA repair networks is needed to correct this problem.
Microsatellite instability in human cancer: a prognostic marker for chemotherapy?
While the mismatch repair status of tumors may become an important determinant in the choice of chemotherapeutic intervention, the significance of MIN in sporadic cancer remains elusive.
Inactivation of the DNA-repair gene MGMT and the clinical response of gliomas to alkylating agents.
Methylation of the MGMT promoter in gliomas is a useful predictor of the responsiveness of the tumors to alkylating agents and an independent and stronger prognostic factor than age, stage, tumor grade, or performance status.
Molecular interaction map of the mammalian cell cycle control and DNA repair systems.
  • K. Kohn
  • Biology
    Molecular biology of the cell
  • 1999
The map shows how multiprotein complexes could assemble and function at gene promoter sites and at sites of DNA damage and portrays the richness of connections between the p53-Mdm2 subsystem and other parts of the network.
The alpha/beta fold uracil DNA glycosylases: a common origin with diverse fates
UDGs form a single protein superfamily with a distinct structural fold and a common evolutionary origin, which is unusual for enzymes with the same principal activity.
Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells.
The results suggest that carriers of the polymorphic XRCC1 399Gln allele may be at greater risk for tobacco- and age-related DNA damage.