title: The Repeat Expansion Diseases: The dark side of DNA repair.
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.
authors.affiliation: Section on Genomic Structure and Function Laboratory of Cell and Molecular Biology National Institute of Diabetes, Digestive and Kidney Diseases National Institutes of Health, Bethesda, MD 20892-0830, USA.
authors.forename: Xiao-Nan
authors.initials: XN
authors.lastname: Zhao
authors.affiliation: Section on Genomic Structure and Function Laboratory of Cell and Molecular Biology National Institute of Diabetes, Digestive and Kidney Diseases National Institutes of Health, Bethesda, MD 20892-0830, USA. Electronic address: ku@helix.nih.gov.
authors.forename: Karen
authors.initials: K
authors.lastname: Usdin
mesh_terms: D000818:Animals; D020137:Base Pair Mismatch; D004249:DNA Damage; D004260:DNA Repair; D004195:Disease Models, Animal; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology; D016678:Genome; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics* / Q000473:pathology; D006801:Humans; D051379:Mice; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology; D019680:Trinucleotide Repeat Expansion
keywords: Base excision repair; Global genome repair; Mismatch repair; Oxidative damage; Repeat Expansion Diseases; Transcription coupled repair