The Repeat Expansion Diseases: The dark side of DNA repair |
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| Institution: | 3. Laboratory of Drosophila Research, Chinese University of Hong Kong, Shatin, N.T., Hong Kong SAR, China;4. School of Life Sciences, Faculty of Science, Chinese University of Hong Kong, Shatin, N.T., Hong Kong SAR, China;5. Department of Chemistry, University of Hong Kong, Pok Fu Lam Road, Hong Kong SAR, China;6. Department of Chemistry, University of Illinois at Urbana-Champaign, Urbana, Illinois 61801;1. Department of Biology, Tufts University, Medford, MA 02155, USA;1. Bioengineering Department, University of Illinois, 1304 West Springfield Avenue, Urbana, IL 61801, USA;2. Department of Molecular Biophysics and Biochemistry, Yale University, 333 Cedar Street, PO Box 208024, New Haven, CT 06520, USA;3. Department of Physics, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA;4. Institute for Genomic Biology, University of Illinois, 1206 West Gregory Street, Urbana, IL 61801, USA;5. Physics Frontier Center (Center of Physics for Living Cells), University of Illinois, 1110 West Green Street, Urbana, IL 61801, USA;6. Biophysics and Computational Biology, University of Illinois, 1110 West Green Street, Urbana, IL 61801, USA;1. Sorbonne Université, Université Pierre et Marie Curie (UPMC), Université de Paris 06, Unité Mixte 75, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche 7225, Institut du Cerveau et de la Moelle Épinière (ICM), 75013 Paris, France;2. Institute of Medical Genetics, Policlinico A. Gemelli, Rome, Italy;3. Neurology and Neurosurgery Department, and Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada;1. Department of Neurology, Peking University Third Hospital, Beijing, China;2. Queensland Brain Institute, University of Queensland, St Lucia, Queensland, Australia;3. Translational Research Institute, University of Queensland Diamantina Institute, Woolloongabba, Queensland, Australia;4. Department of Rheumatology and Immunology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, China |
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| Abstract: | DNA repair normally protects the genome against mutations that threaten genome integrity and thus cell viability. However, growing evidence suggests that in the case of the Repeat Expansion Diseases, disorders that result from an increase in the size of a disease-specific microsatellite, the disease-causing mutation is actually the result of aberrant DNA repair. A variety of proteins from different DNA repair pathways have thus far been implicated in this process. This review will summarize recent findings from patients and from mouse models of these diseases that shed light on how these pathways may interact to cause repeat expansion. |
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