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Single-strand break repair and genetic disease

journal contribution
posted on 2023-06-08, 08:05 authored by Keith CaldecottKeith Caldecott
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.

History

Publication status

  • Published

Journal

Nature Reviews Genetics

ISSN

0028-0836

Publisher

Nature Publishing Group

Issue

8

Volume

9

Page range

619-631

Pages

13.0

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2012-02-06

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