論文

査読有り 国際誌
2007年

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.

Nucleic acids research
  • Tetsuya Takahashi
  • Masayoshi Tada
  • Shuichi Igarashi
  • Akihide Koyama
  • Hidetoshi Date
  • Akio Yokoseki
  • Atsushi Shiga
  • Yutaka Yoshida
  • Shoji Tsuji
  • Masatoyo Nishizawa
  • Osamu Onodera
  • 全て表示

35
11
開始ページ
3797
終了ページ
809
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1093/nar/gkm158
出版者・発行元
OXFORD UNIV PRESS

Aprataxin is the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological. Although aprataxin has been suggested to be related to DNA single-strand break repair (SSBR), the physiological function of aprataxin remains to be elucidated. DNA single-strand breaks (SSBs) continually produced by endogenous reactive oxygen species or exogenous genotoxic agents, typically possess damaged 3'-ends including 3'-phosphate, 3'-phosphoglycolate, or 3'-alpha, beta-unsaturated aldehyde ends. These damaged 3'-ends should be restored to 3'-hydroxyl ends for subsequent repair processes. Here we demonstrate by in vitro assay that recombinant human aprataxin specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends, and can act with DNA polymerase beta and DNA ligase III to repair SSBs with these damaged 3'-ends. Furthermore, disease-associated mutant forms of aprataxin lack this removal activity. The findings indicate that aprataxin has an important role in SSBR, that is, it removes blocking molecules from 3'-ends, and that the accumulation of unrepaired SSBs with damaged 3'-ends underlies the pathogenesis of EAOH/AOA1. The findings will provide new insight into the mechanism underlying degeneration and DNA repair in neurons.

リンク情報
DOI
https://doi.org/10.1093/nar/gkm158
J-GLOBAL
https://jglobal.jst.go.jp/detail?JGLOBAL_ID=200902264294779816
CiNii Articles
http://ci.nii.ac.jp/naid/80018371325
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/17519253
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1920238
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000247817500027&DestApp=WOS_CPL
ID情報
  • DOI : 10.1093/nar/gkm158
  • ISSN : 0305-1048
  • eISSN : 1362-4962
  • J-Global ID : 200902264294779816
  • CiNii Articles ID : 80018371325
  • PubMed ID : 17519253
  • PubMed Central 記事ID : PMC1920238
  • Web of Science ID : WOS:000247817500027

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