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Short-patch single-strand break repair in ataxia oculomotor apraxia-1

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posted on 2023-06-08, 05:35 authored by John J Reynolds, Sherif F El-Khamisy, Keith CaldecottKeith Caldecott
AOA1 (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

0067-8694

Volume

76

Pages

10.0

Presentation Type

  • paper

Event name

Symposium on DNA Damage - From Causes to Cures Univ Cambridge, Robinson Coll, Cambridge, ENGLAND, DEC 15-17, 2008

Event location

Cambridge, ENGLAND

Event type

conference

ISBN

978-1-85578-173-3

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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