title: Single-strand break repair and genetic disease.
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.
authors.affiliation: Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, UK. k.w.caldecott@sussex.ac.uk
authors.forename: Keith W
authors.initials: KW
authors.lastname: Caldecott
mesh_terms: D000818:Animals; D001072:Apraxias / Q000235:genetics; D002453:Cell Cycle / Q000235:genetics / Q000502:physiology; D002875:Chromosomes; D053903:DNA Breaks, Double-Stranded; D053904:DNA Breaks, Single-Stranded; D004260:DNA Repair / Q000235:genetics / Q000502:physiology*; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008954:Models, Biological; D009369:Neoplasms / Q000235:genetics; D009410:Nerve Degeneration / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics / Q000502:physiology; D015840:Oculomotor Nerve Diseases / Q000235:genetics; D010727:Phosphoric Diester Hydrolases / Q000235:genetics / Q000502:physiology; D020754:Spinocerebellar Ataxias / Q000235:genetics
chemical_list: C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D010727:Phosphoric Diester Hydrolases; C498508:TDP1 protein, human