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- Title
Single-strand break repair and genetic disease.
- Authors
Abrahams, Brett S.; Geschwind, Daniel H.; Caldecott, Keith W
- 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.
- Subjects
MEDICAL genetics; ANIMAL experimentation; APRAXIA; BIOLOGICAL models; CELL cycle; CHROMOSOMES; COMPARATIVE studies; DNA; ESTERASES; GENETIC disorders; RESEARCH methodology; SPINOCEREBELLAR ataxia; MEDICAL cooperation; NEURODEGENERATION; RESEARCH; TUMORS; CRANIAL nerve diseases; DNA-binding proteins; EVALUATION research; NUCLEAR proteins; PHYSIOLOGY
- Publication
Nature Reviews Genetics, 2008, Vol 9, Issue 6, p493
- ISSN
1471-0056
- Publication type
journal article
- DOI
10.1038/nrg2380