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