Short-patch single-strand break repair in ataxia oculomotor apraxia-1-Reference-Cited by-同舟云学术

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

Published:2009-05-20 Issue:3 Volume:37 Page:577-581
ISSN:0300-5127
Container-title:Biochemical Society Transactions
language:en
Short-container-title:

Author:

Reynolds John J.¹,El-Khamisy Sherif F.¹²,Caldecott Keith W.¹

Affiliation:

1. Genome Damage and Stability Centre, University of Sussex, Science Park Road, Falmer, Brighton BN1 9RQ, U.K.

2. Biochemistry Department, Faculty of Pharmacy. Ain Shams University, Cairo, Egypt

Abstract

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.

Publisher

Portland Press Ltd.

Subject

Biochemistry

Link

https://portlandpress.com/biochemsoctrans/article-pdf/37/3/577/542051/bst0370577.pdf

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