DNA triplet repeat expansion and mismatch repair
Open accessAbstract
DNA mismatch repair is a conserved antimutagenic pathway that maintains genomic stability through rectification of DNA replication errors and attenuation of chromosomal rearrangements. Paradoxically, mutagenic action of mismatch repair has been implicated as a cause of triplet repeat expansions that cause neurological diseases such as Huntington disease and myotonic dystrophy. This mutagenic process requires the mismatch recognition factor MutSβ and the MutLα (and/or possibly MutLγ) endonuclease, and is thought to be triggered by the transient formation of unusual DNA structures within the expanded triplet repeat element. This review summarizes the current knowledge of DNA mismatch repair involvement in triplet repeat expansion, which encompasses in vitro biochemical findings, cellular studies, and various in vivo transgenic animal model experiments. We present current mechanistic hypotheses regarding mismatch repair protein function in mediating triplet repeat expansions and discuss potential therapeutic approaches targeting the mismatch repair pathway.
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Pre-mutation and mutation lengths vary widely among the repeat expansion disorders.
“Pre-mutation and mutation lengths vary widely among the repeat expansion disorders (Iyer et al., 2015; McMurray, 2010).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Iyer et al., 2015
daSTRs consist predominantly of a trinucleotide unit, but expandable tetra-, penta-, and hexa-nucleotide repeat sequences have also been reported.
“daSTRs consist predominantly of a trinucleotide unit, but expandable tetra-, penta-, and hexa-nucleotide repeat sequences have also been reported (Iyer et al., 2015).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Iyer et al., 2015
daSTRs with similar sequence and gene body locations behave similarly with respect to number of repeats required for disease and expansion mechanisms.
“These groups are motivated by prior literature showing that daSTRs with similar sequence and gene body locations behave similarly with respect to number of repeats required for disease and expansion mechanisms (Iyer et al., 2015).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Iyer et al., 2015
A total of 29 genes associated with trinucleotide repeat expansion disorders were initially selected for analysis based on previous reports.
“A total of 29 genes associated with trinucleotide repeat expansion disorders were initially selected for analysis based on previous reports (Tables S1-S3) (Iyer et al., 2015; La Spada and Taylor, 2010).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Iyer et al., 2015
Studies in model organisms show that mutations in genes encoding key machinery involved in DNA replication, repair, and recombination are linked to STR instability.
“Studies in model organisms show that mutations in genes encoding key machinery involved in DNA replication, repair, and recombination are linked to STR instability (Iyer et al., 2015; McMurray, 2010; Mirkin, 2007; Pearson et al., 2005).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Iyer et al., 2015
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References 183 · Cited by 130
Research works printed but not linked: 1
- [3]Wells RD Ashizawa T Genetic Instabilities and Neurological Diseases 2006 766 Elsevier Boston 2nd ed.
- Authors
- Iyer, R. R., Pluciennik, A., Napierala, M., & Wells, R. D.
- Affiliations
- Teva Pharmaceuticals (United States) (US)
- Thomas Jefferson University (US)
- Department of Biochemistry and Molecular Genetics, Schools of Medicine and Dentistry, University of Alabama, Birmingham, Alabama 35294;
- Texas A&M University (US)
- Venue
- Annual Review of Biochemistry
- Publisher
- Annual Reviews
- Published
- 2015-06-02
- Volume
- 84
- Issue
- 1
- Pages
- 199-226
- ISSN
- 0066-4154 (ISSN-L)
- 1545-4509
- PMC
- PMC4845744
- OpenAlex
- W2126892015
- Cited by
- 130
- References
- 183
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 14 · 2023: 12 · 2022: 4 · 2021: 12 · 2020: 22 · 2019: 7 · 2018: 19 · 2017: 12 · 2016: 12 · 2015: 5
- FWCI
- 1.55
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annual Review of Biochemistry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Muscular Dystrophy Association
- Teva Pharmaceutical Industries
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (R01NS081366)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- DNA mismatch repair, trinucleotide repeat expansion, MutSβ, MutLα, mutagenesis, genome stability, Huntington's disease, myotonic dystrophy, DNA replication errors, chromosomal rearrangements, transgenic animal models
- MeSH terms
- Animals, Chromatin, Escherichia coli, Histones, Humans, Nervous System Diseases, Nucleic Acid Conformation, Trinucleotide Repeat Expansion, Genomic Instability, DNA Mismatch Repair
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