ArticleNucleic acids research2007
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
Article in Nucleic acids research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 67 citations in OpenAlex.
- SNM1A is crucial for efficient repair of complex DNA breaks in human cells.Nature communications · 2024Article
- Ago2 and a miRNA reduce Topoisomerase 1 for enhancing DNA cleavage in antibody diversification by activation-induced cytidine deaminase.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- APE1: A skilled nucleic acid surgeon.DNA repair · 2018Review
- Neurological disorders associated with DNA strand-break processing enzymes.Mechanisms of ageing and development · 2017Review
- Chemical Incorporation of Chain-Terminating Nucleoside Analogs as 3'-Blocking DNA Damage and Their Removal by Human ERCC1-XPF Endonuclease.Molecules (Basel, Switzerland) · 2016Article
- Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.BMC medical genetics · 2015Article
- DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.Neurogenetics · 2014Review
- Genes and genetic testing in hereditary ataxias.Genes · 2014Article
- DNA repair mechanisms in dividing and non-dividing cells.DNA repair · 2013Review
- Modulation of DNA base excision repair during neuronal differentiation.Neurobiology of aging · 2013Article
- Repair of double-strand breaks by end joining.Cold Spring Harbor perspectives in biology · 2013Review
- SUMO modification of the neuroprotective protein TDP1 facilitates chromosomal single-strand break repair.Nature communications · 2012Article
- Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease.Nature structural & molecular biology · 2011Article
- DNA repair deficiency in neurodegeneration.Progress in neurobiology · 2011Review
- Aprataxin localizes to mitochondria and preserves mitochondrial function.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- To live or to die: a matter of processing damaged DNA termini in neurons.EMBO molecular medicine · 2011Review
- Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair.DNA repair · 2010Article
- Identification of a residue critical for the excision of 3'-blocking ends in apurinic/apyrimidinic endonucleases of the Xth family.Nucleic acids research · 2009Article
- Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.Molecular and cellular biology · 2009Article
- XRCC1 protects against the lethality of induced oxidative DNA damage in nondividing neural cells.Nucleic acids research · 2008Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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