Cited by 270DNA Repair MechanismsPARP inhibition in cancer therapyGenetic Neurodegenerative Diseases

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XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

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Care4Rare Canada Consortium, Hoch, Nicolas C., Hanzlikova, Hana, Rulten, Stuart L., Tétreault, Martine, Komulainen, Emilia, Ju, Limei, Hornyak, Peter, Zeng, Zhihong, Gittens, William, Rey, Stephanie A., Staras, Kevin, Mancini, Grazia M. S., McKinnon, Peter J., Wang, Zhao-Qi, Wagner, Justin D., Yoon, Grace, Caldecott, Keith W.·2017·Nature

DOI 10.1038/nature20790PMC PMC5218588

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Abstract

XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Cells from a patient with mutations in XRCC1 exhibited not only reduced rates of single-strand break repair but also elevated levels of protein ADP-ribosylation. This latter phenotype is recapitulated in a related syndrome caused by mutations in the XRCC1 partner protein PNKP and implicates hyperactivation of poly(ADP-ribose) polymerase/s as a cause of cerebellar ataxia. Indeed, remarkably, genetic deletion of Parp1 rescued normal cerebellar ADP-ribose levels and reduced the loss of cerebellar neurons and ataxia in Xrcc1-defective mice, identifying a molecular mechanism by which endogenous single-strand breaks trigger neuropathology. Collectively, these data establish the importance of XRCC1 protein complexes for normal neurological function and identify PARP1 as a therapeutic target in DNA strand break repair-defective disease.

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Authors: Care4Rare Canada Consortium, Hoch, N. C., Hanzlikova, H., Rulten, S. L., Tétreault, M., Komulainen, E., Ju, L., Hornyak, P., Zeng, Z., Gittens, W., Rey, S. A., Staras, K., Mancini, G. M. S., McKinnon, P. J., Wang, Z.-Q., Wagner, J. D., Yoon, G., & Caldecott, K. W.
Affiliations: University of Sussex (GB)
McGill University and Génome Québec Innovation Centre (CA)
Erasmus MC (NL)
St. Jude Children's Research Hospital (US)
Leibniz Institute on Aging - Fritz Lipmann Institute (FLI) (DE)
Children's Hospital of Eastern Ontario (CA)
University of Toronto (CA)
Corresponding author: Yoon, Grace
Caldecott, Keith W.
ORCID: Rulten, Stuart L.
Tétreault, Martine
Komulainen, Emilia
Gittens, William
Rey, Stephanie A.
Staras, Kevin
Mancini, Grazia M. S.
McKinnon, Peter J.
Wang, Zhao-Qi
Yoon, Grace
Caldecott, Keith W.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2016-12-21
Volume: 541
Issue: 7635
Pages: 87-91
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature20790
PMC: PMC5218588
OpenAlex: W2563186352
Cited by: 269
References: 26
Citations by year: 2026: 18 · 2025: 22 · 2024: 23 · 2023: 17 · 2022: 33 · 2021: 35 · 2020: 36 · 2019: 30 · 2018: 32 · 2017: 22 · 2016: 1
FWCI: 14.73
Type: journal article
Language: en
Open access: green
europepmc.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Sussex Research Online (University of Sussex) (submittedVersion)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
RePEc: Research Papers in Economics (submittedVersion)
Figshare (submittedVersion, cc-by)
Funders: Cancer Research UK (16771)
Medical Research Council (MR/J006750/1, MR/P010121/1)
Biotechnology and Biological Sciences Research Council (BB/K019015/1)
National Cancer Institute (P01CA096832, P30CA021765)
National Institute of Neurological Disorders and Stroke (R56NS037956, R01NS037956)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Health Sciences › Medicine › Oncology › PARP inhibition in cancer therapy
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords: XRCC1, PARP1, cerebellar ataxia, ocular motor apraxia, axonal neuropathy, DNA single-strand break repair, ADP-ribosylation, ADP-ribose, PNKP, therapeutic target
MeSH terms: Poly (ADP-Ribose) Polymerase-1, X-ray Repair Cross Complementing Protein 1, Adenosine Diphosphate Ribose, Alleles, Animals, Apraxias, Ataxia, Axons, Cerebellar Ataxia, Cerebellum, Chromatin, DNA Repair, DNA-Binding Proteins, Female, Humans, Interneurons, Male, Mutation, Pedigree, Phenotype, Phosphotransferases (Alcohol Group Acceptor), DNA Repair Enzymes, Mice, DNA Breaks, Single-Stranded, Cogan Syndrome

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XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

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