DNA Mismatch Repair and its Role in Huntington’s Disease
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Summary
The current state of mechanistic knowledge of MMR is discussed and the roles of key enzymes in this pathway are reviewed, including mutagenic function of MMR in CAG repeat expansion and mechanistic hypotheses that have been proposed are considered.
- Type
- review
- Published
- 2021-02-09
- Cited by
- 95
- References
- 222
- Access
- Open access
- OpenAlex
- https://openalex.org/W3127201805
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:231909426
Keywords
Huntington's disease, Biology, DNA mismatch repair, DNA repair, Genetics
References
- Mismatch repair during homologous and homeologous recombination.
- GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutLγ and depends upon the endonuclease domain in MLH3 isoform one
- DNA mismatch repair and the DNA damage response
- DNA-dependent Activation of the hMutSα ATPase*
- DNA ligase I, the replicative DNA ligase
- MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability
- HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions
- DNA Repair and Mutagenesis
- Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
- Dominant negative mutator mutations in the mutS gene of Escherichia coli
- Trinucleotide expansion in haploid germ cells by gap repair
- Hydrolytically Deficient MutS E694A Is Defective in the MutL-dependent Activation of MutH and in the Mismatch-dependent Assembly of the MutS · MutL · Heteroduplex Complex*
- Slipped strand DNA structures.
- Flexible DNA: Genetically Unstable CTG·CAG and CGG·CCG from Human Hereditary Neuromuscular Disease Genes*
- Strand separation required for initiation of replication at the chromosomal origin of E.coli is facilitated by a distant RNA–DNA hybrid.
- R loops stimulate genetic instability of CTG·CAG repeats
- Genetic modifiers of Huntington's disease
- Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
- Slipped-strand mispairing: a major mechanism for DNA sequence evolution.
- Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer.
Cited by
- Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases
- The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective
- Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models
- Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation
- Special Issue: DNA Repair and Somatic Repeat Expansion in Huntington’s Disease
- FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders
- Propensity for somatic expansion increases over the course of life in Huntington disease
- Multi-functions of exonuclease 1 in DNA damage response and cancer susceptibility
- Signaling Overlap between the Golgi Stress Response and Cysteine Metabolism in Huntington’s Disease
- Restarted replication forks are error-prone and cause CAG repeat expansions and contractions
- Polyglutamine diseases.
- A Double-Pronged Sword: XJB-5-131 Is a Suppressor of Somatic Instability and Toxicity in Huntington’s Disease
- Current and emerging treatment modalities for spinocerebellar ataxias
- SYVN1‐mediated ubiquitination and degradation of MSH3 promotes the apoptosis of lens epithelial cells
- Suppression of Somatic Expansion As a Novel Therapeutic Approach for Huntington Disease and Other Repeat Expansion Disorders
- Genome Integrity and Neurological Disease
- Potential disease modifying therapies for Huntington’s disease, lessons learned and future opportunities
- The Role of DNA Damage in Neural Plasticity in Physiology and Neurodegeneration
- Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease
- Replication dependent and independent mechanisms of GAA repeat instability
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