DNA single-strand breaks and neurodegeneration.
The association of human genetic disorders with defects in the DNA damage response is well established. Most of the major DNA repair pathways are represented by diseases in which that pathway is absent or impaired, including those responsible for repairing DNA double-strand breaks. Conspicuous by their absence, however, have been human disorders associated with defects in the repair or response to DNA single-strand breaks (SSBs). However, three papers have recently associated hereditary spinocerebellar ataxia with mutations in genes connected with SSBR. The emerging links between SSBR and neurodegeneration are discussed.
Genome Damage and Stability Centre, University of Sussex, Science Park Road, Falmer, Brighton BN1 9RQ, UK. k.w.caldecott@sussex.ac.uk
Keith W
KW
Caldecott
D000818:Animals; D004249:DNA Damage; D004260:DNA Repair; D004277:DNA, Single-Stranded / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D008954:Models, Biological; D019636:Neurodegenerative Diseases / Q000235:genetics*; D015398:Signal Transduction; D020754:Spinocerebellar Ataxias / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000235:genetics; D000076105:X-ray Repair Cross Complementing Protein 1
D004277:DNA, Single-Stranded; D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1