The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates

Nature. 2006 Oct 12;443(7112):713-6. doi: 10.1038/nature05164. Epub 2006 Sep 10.

Abstract

Ataxia oculomotor apraxia-1 (AOA1) is a neurological disorder caused by mutations in the gene (APTX) encoding aprataxin. Aprataxin is a member of the histidine triad (HIT) family of nucleotide hydrolases and transferases, and inactivating mutations are largely confined to this HIT domain. Aprataxin associates with the DNA repair proteins XRCC1 and XRCC4, which are partners of DNA ligase III and ligase IV, respectively, suggestive of a role in DNA repair. Consistent with this, APTX-defective cell lines are sensitive to agents that cause single-strand breaks and exhibit an increased incidence of induced chromosomal aberrations. It is not, however, known whether aprataxin has a direct or indirect role in DNA repair, or what the physiological substrate of aprataxin might be. Here we show, using purified aprataxin protein and extracts derived from either APTX-defective chicken DT40 cells or Aptx-/- mouse primary neural cells, that aprataxin resolves abortive DNA ligation intermediates. Specifically, aprataxin catalyses the nucleophilic release of adenylate groups covalently linked to 5'-phosphate termini at single-strand nicks and gaps, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. These data indicate that neurological disorders associated with APTX mutations may be caused by the gradual accumulation of unrepaired DNA strand breaks resulting from abortive DNA ligation events.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Monophosphate / metabolism
  • Animals
  • Astrocytes / enzymology
  • Astrocytes / metabolism
  • Cell Extracts
  • Cell Line
  • Chickens
  • DNA / chemistry*
  • DNA / metabolism*
  • DNA Damage*
  • DNA Ligases / metabolism*
  • DNA Repair*
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Hydrolysis
  • Mice
  • Neurodegenerative Diseases / enzymology
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / metabolism*
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*

Substances

  • Aptx protein, mouse
  • Cell Extracts
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Adenosine Monophosphate
  • DNA
  • DNA Ligases