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Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease

Matthew J Schellenberg1, Percy P Tumbale1, R Scott Williams1

  • 1Genome Integrity and Structural Biology Laboratory, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, NC, 27709, USA.

Progress in Biophysics and Molecular Biology
|February 1, 2015
PubMed

Insights

Aprataxin (APTX) proofreads DNA ligase by reversing AMP-modified DNA termini. This function is crucial for DNA repair and understanding Ataxia with Oculomotor Apraxia 1 (AOA1) disease.

Area of Science:

  • Molecular Biology
  • Biochemistry
  • Genetics

Background:

  • Eukaryotic DNA ligases repair DNA breaks through a three-step mechanism.
  • This process can fail upon encountering modified DNA termini, leading to abortive ligation.
  • Abortive ligation creates 5 -adenylated nucleic acid termini, signaling DNA damage.

Purpose of the Study:

  • To survey the function of Aprataxin (APTX) in DNA repair.
  • To understand the molecular basis of APTX's deadenylation activity.
  • To provide insights into the molecular causes of Ataxia with Oculomotor Apraxia 1 (AOA1).

Main Methods:

  • Literature review of cell biological, structural, and biochemical data.
  • Analysis of APTX's role in reversing AMP-modified nucleic acid termini.
  • Investigation of DNA and RNA-DNA damage response pathways.

Main Results:

  • APTX acts as a DNA ligase "proofreader" by directly reversing 5 -adenylated nucleic acid termini.
  • APTX is involved in DNA single-strand break repair (SSBR) and ribonucleotide excision repair (RER).
  • Emerging data provides a molecular foundation for APTX-mediated deadenylation.

Conclusions:

  • APTX plays a critical role in maintaining genome integrity by proofreading DNA ligation.
  • Understanding APTX function is key to deciphering the molecular pathology of AOA1.
  • APTX-mediated deadenylation is a vital DNA damage response mechanism.
Keywords:
AOA1AprataxinAptxDNA damage responseDNA ligaseNeurodegenerative disease

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