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Nat Rev Genet. 2008 Aug;9(8):619-31. doi: 10.1038/nrg2380.

Single-strand break repair and genetic disease.

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Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, UK.


Hereditary defects in the repair of DNA damage are implicated in a variety of diseases, many of which are typified by neurological dysfunction and/or increased genetic instability and cancer. Of the different types of DNA damage that arise in cells, single-strand breaks (SSBs) are the most common, arising at a frequency of tens of thousands per cell per day from direct attack by intracellular metabolites and from spontaneous DNA decay. Here, the molecular mechanisms and organization of the DNA-repair pathways that remove SSBs are reviewed and the connection between defects in these pathways and hereditary neurodegenerative disease are discussed.

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