TDP1-dependent DNA single-strand break repair and neurodegeneration.
DNA single-strand breaks (SSBs) are the commonest DNA lesions that arise spontaneously in living cells. Cells employ efficient processes for the rapid repair of these breaks and defects in these processes appear to preferentially impact on the nervous system, causing human ataxia. Spinocerebellar ataxia with axonal neuropathy (SCAN1) is a human disease that is associated with a defect in repairing certain types of SSBs. Although it is a rare neurodegenerative disease, understanding the molecular basis of SCAN1 will lead to better understanding of the mechanisms that underpin not only neurodegeneration but also cancer.
El-Khamisy
Sherif F
SF
Genome Damage and Stability Centre, University of Sussex Falmer, Brighton BN1 9RQ, UK. smfame20@sussex.ac.uk
Caldecott
Keith W
KW
D004249:DNA Damage; D004260:DNA Repair; D004261:DNA Replication; D006801:Humans; D008954:Models, Biological; D009154:Mutation; D009369:Neoplasms / Q000378:metabolism; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000473:pathology*; D010727:Phosphoric Diester Hydrolases / Q000235:genetics / Q000502:physiology*; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics / Q000502:physiology*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000378:metabolism
D029701:Saccharomyces cerevisiae Proteins; D010727:Phosphoric Diester Hydrolases; C498508:TDP1 protein, human; C505435:Tdp1 protein, S cerevisiae