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      Single-strand break repair and genetic disease.

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      Nature reviews. Genetics
      Springer Science and Business Media LLC

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          Abstract

          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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          Author and article information

          Journal
          Nat Rev Genet
          Nature reviews. Genetics
          Springer Science and Business Media LLC
          1471-0064
          1471-0056
          Aug 2008
          : 9
          : 8
          Affiliations
          [1 ] Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, UK. k.w.caldecott@sussex.ac.uk
          Article
          nrg2380
          10.1038/nrg2380
          18626472
          d1ad138b-1d15-4490-b019-f490613aff22
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