DNA Repair Disorders

Abstract

Some human diseases are characterized by defects in the cellular machinery for either monitoring and eliciting an appropriate response to the presence of DNA damage or in the actual process of removing (repairing) or tolerating the damage via some type of DNA transaction. Many of the known disorders lead to a predisposition for developing cancer.

Keywords: DNA damage; DNA repair; mutation; genetic instability; cancer

Figure 1.

DNA repair and damage‐monitoring pathways. The presence of DNA damage in the genome of a cell is monitored by DNA‐damage sensors which, in turn, send appropriate signals to the cellular response machinery including DNA‐repair pathways and cell cycle checkpoint control systems (other responses). DNA repair is thought be conducted in transcribed (gene expression) regions by the transcription‐coupled repair (TCR) system or in other genomic regions by the global genome repair (GGR) system. Components of specific DNA‐repair pathways that may participate in TCR or GGR are base excision repair (BER), nucleotide excision repair (NER) and mismatch repair (MMR). In some cases, DNA damage is handled by damage‐tolerance pathways such as translesion synthesis (TLS) and recombination (REC).

Figure 2.

Biological endpoints of unrepaired DNA damage. The consequences of inability to mount an appropriate response to the presence of DNA damage leads to a number of potentially deleterious consequences.

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References

Friedberg EC, Walker GC and Siede W (1995) DNA Repair and Mutagenesis. Washington DC: ASM Press.

Further Reading

De Boer J and Hoejmakers JH (2000) Nucleotide excision repair and human syndromes. Carcinogenesis 21: 453–460.

Friedberg EC, Walker GC and Siede W (1995) DNA Repair and Mutagenesis. Washington DC: ASM Press.

Wang JYJ (2000) Cancer. New link in a web of human genetics. Nature 405: 404–405.

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How to Cite close
Doetsch, Paul W(Apr 2001) DNA Repair Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0001904]