期刊
BIOCHEMICAL SOCIETY TRANSACTIONS
卷 37, 期 -, 页码 577-581出版社
PORTLAND PRESS LTD
DOI: 10.1042/BST0370577
关键词
aprataxin; ataxia oculomotor apraxia; short-patch repair; single-strand break repair; spinocerebellar ataxia
资金
- Medical Research Council [G0400959, G0600776] Funding Source: researchfish
- MRC [G0400959, G0600776] Funding Source: UKRI
- Biotechnology and Biological Sciences Research Council [C516595] Funding Source: Medline
- Medical Research Council [G0400959, G0600776] Funding Source: Medline
- Wellcome Trust [085284] Funding Source: Medline
A0A1 (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 A0A1 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 A0A1 extracts, independently of aprataxin, by addition of recombinant DNA ligase.
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