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Short-patch single-strand break repair in ataxia oculomotor apraxia-1
presentation
posted on 2023-06-08, 05:35 authored by John J Reynolds, Sherif F El-Khamisy, Keith CaldecottKeith CaldecottAOA1 (ataxia oculomotor apraxia-1) results from mutations in aprataxin, a component of DNA strand break repair that removes AMP from 5'-termini. In the present article, we provide an overview of this disease and review recent experiments demonstrating that short-patch repair of oxidative single-strand breaks in AOA1 cell extracts bypasses the point of aprataxin action and stalls at the final step of DNA ligation, resulting in accumulation of adenylated DNA nicks. Strikingly, this defect results from insufficient levels of non-adenylated DNA ligase and short-patch single-strand break repair can be restored in AOA1 extracts, independently of aprataxin, by addition of recombinant DNA ligase.
History
Publication status
- Published
ISSN
0067-8694Volume
76Pages
10.0Presentation Type
- paper
Event name
Symposium on DNA Damage - From Causes to Cures Univ Cambridge, Robinson Coll, Cambridge, ENGLAND, DEC 15-17, 2008Event location
Cambridge, ENGLANDEvent type
conferenceISBN
978-1-85578-173-3Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
Full text available
- No
Peer reviewed?
- Yes