The Repeat Expansion Diseases: The dark side of DNA repair.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101139138 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1568-7856 (Electronic) Linking ISSN: 15687856 NLM ISO Abbreviation: DNA Repair (Amst) Subsets: MEDLINE

Original Publication: Amsterdam ; New York : Elsevier, c2002-

DNA Repair* ; Genome* ; Trinucleotide Repeat Expansion*; Fragile X Syndrome/*genetics ; Heredodegenerative Disorders, Nervous System/*genetics ; Muscular Dystrophies/*genetics ; Spinocerebellar Ataxias/*genetics; Animals ; Base Pair Mismatch ; DNA Damage ; Disease Models, Animal ; Fragile X Syndrome/pathology ; Heredodegenerative Disorders, Nervous System/pathology ; Humans ; Mice ; Muscular Dystrophies/pathology ; Spinocerebellar Ataxias/pathology

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.
(Published by Elsevier B.V.)

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Z01 DK057808-01 United States Intramural NIH HHS

Keywords: Base excision repair; Global genome repair; Mismatch repair; Oxidative damage; Repeat Expansion Diseases; Transcription coupled repair

Date Created: 20150524 Date Completed: 20160428 Latest Revision: 20220223

20240513

PMC4522390

10.1016/j.dnarep.2015.04.019

26002199