Single-strand break repair and genetic disease

Caldecott, Keith (2008) Single-strand break repair and genetic disease. Nature Reviews Genetics, 9 (8). pp. 619-631. ISSN 0028-0836

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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.

Item Type: Article
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Depositing User: Keith Caldecott
Date Deposited: 06 Feb 2012 20:52
Last Modified: 24 Jul 2012 11:00
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