Document Type
Article
Publication Date
2-9-2021
Abstract
DNA mismatch repair (MMR) is a highly conserved genome stabilizing pathway that corrects DNA replication errors, limits chromosomal rearrangements, and mediates the cellular response to many types of DNA damage. Counterintuitively, MMR is also involved in the generation of mutations, as evidenced by its role in causing somatic triplet repeat expansion in Huntington's disease (HD) and other neurodegenerative disorders. In this review, we discuss the current state of mechanistic knowledge of MMR and review the roles of key enzymes in this pathway. We also present the evidence for mutagenic function of MMR in CAG repeat expansion and consider mechanistic hypotheses that have been proposed. Understanding the role of MMR in CAG expansion may shed light on potential avenues for therapeutic intervention in HD.
Recommended Citation
Iyer, Ravi R and Pluciennik, Anna, "DNA Mismatch Repair and its Role in Huntington's Disease" (2021). Department of Biochemistry and Molecular Biology Faculty Papers. Paper 180.
https://jdc.jefferson.edu/bmpfp/180
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License
PubMed ID
33579865
Language
English
Comments
This article is the author’s final published version in Journal of Huntington's Disease, Volume 10, Issue 1, February 2021, Pages 75-94.
The published version is available at https://doi.org/10.3233/JHD-200438. Copyright © Iyer et al.