Cited by 926Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancerDNA Repair Mechanisms

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Repeat instability: mechanisms of dynamic mutations

Pearson, Christopher E., Edamura, Kerrie Nichol, Cleary, John D.·2005·Nature Reviews Genetics

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Abstract

Disease-causing repeat instability is an important and unique form of mutation that is linked to more than 40 neurological, neurodegenerative and neuromuscular disorders. DNA repeat expansion mutations are dynamic and ongoing within tissues and across generations. The patterns of inherited and tissue-specific instability are determined by both gene-specific cis-elements and trans-acting DNA metabolic proteins. Repeat instability probably involves the formation of unusual DNA structures during DNA replication, repair and recombination. Experimental advances towards explaining the mechanisms of repeat instability have broadened our understanding of this mutational process. They have revealed surprising ways in which metabolic pathways can drive or protect from repeat instability.

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Dobbing, J., & Sands, J. (1979) · Early Human Development · doi:10.1016/0378-3782(79)90022-7 · Cited by 2,506
The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function
Chamberlain, N. L., Driver, E. D., & Miesfeld, R. L. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.15.3181 · Cited by 1,149
DNA methylation represses FMR-1 transcription in fragile X syndrome
Sutcliffe, J. S., Nelson, D. L., Zhang, F., Pieretti, M., Caskey, C. T., Saxe, D., & Warren, S. T. (1992) · Human Molecular Genetics · doi:10.1093/hmg/1.6.397 · Cited by 680
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Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
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Expansion and Length-Dependent Fragility of CTG Repeats in Yeast
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Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
Lin, X., Antalffy, B., Kang, D., Orr, H. T., & Zoghbi, H. Y. (2000) · Nature Neuroscience · doi:10.1038/72101 · Cited by 374
Reduced transcriptional regulatory competence of the androgen receptor in X–linked spinal and bulbar muscular atrophy
Mhatre, A. N., Trifiro, M. A., Kaufman, M., Kazemi‐Esfarjani, P., Figlewicz, D. A., Rouleau, G. A., & Pinsky, L. (1993) · Nature Genetics · doi:10.1038/ng1093-184 · Cited by 357

Show all 157 references

Research works printed but not linked: 8

Taylor, A. K. et al. Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. Am. J. Med. Genet. 84, 233–239 (1999). Together with reference 13, this study contributed to the understanding of the timing and tissue-specificity of germline and somatic mosaicism and CpG methylation mosaicism. It indicates a role of CpG methylation in CGG instability. · DOI
Maciel, P., Lopes-Cendes, I., Kish, S., Sequeiros, J. & Rouleau, G. A. Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado–Joseph disease patients. Am. J. Hum. Genet. 60, 993–996 (1997).
Tassone, F., Hagerman, R. J., Gane, L. W. & Taylor, A. K. Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation. Am. J. Med. Genet. 84, 240–244 (1999). · DOI
Gourdon, G., Dessen, P., Lia, A. S., Junien, C. & Hofmann-Radvanyi, H. Intriguing association between disease associated unstable trinucleotide repeat and CpG island. Ann. Genet. 40, 73–77 (1997).
Cleary J. D., Nichol Edamura, K. & Pearson C. E. The complex nature of trinucleotide repeat instability. Chemtracts Biochem. Mol. Biol. 17, 663–676 (2004).
Lee, G. S., Brandt, V. L. & Roth, D. B. B cell development leads off with a base hit: dU:dG mismatches in class switching and hypermutation. Mol. Cell 16, 505–508 (2004).
Strachan, T. & Read, A. P. Human Molecular Genetics 2 2nd edn (John Wiley & Sons, New York, 1999).
Nichol Edamura, K. & Pearson, C. E. DNA methylation and replication: implications for the 'deletion hotspot' region of FMR1. Hum. Genet. (in the press).

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Background
Interpreting Gene Expression Effects of Disease-Associated Variants: A Lesson from SNCA rs356168
Glenn, O.-C., Tagliafierro, L., Beach, T. G., Woltjer, R. L., & Chiba‐Falek, O. (2017) · Frontiers in Genetics · doi:10.3389/fgene.2017.00133 · Cited by 10
“(Pearson et al., 2005; Mirkin, 2007; Willems et al., 2014; Sudmant et al., 2015; Gymrek et al., 2016; Huddleston and Eichler, 2016; Saul et al., 2016) and that haplotypes matter (Gross et al.”
Background
Flow cytometric detection of tandem repeat mutations induced by various chemical classes
Healy, C., Wade, M., McMahon, A., Williams, A., Johnson, D. A., & Parfett, C. L. J. (2006) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2006.01.012 · Cited by 10
“genetic instabilities can lead to impairment of gene functions and to diseases [6].”
Background
Advances in Huntington’s disease diagnostics: development of a standard reference material
Levin, B. C., Richie, K. L., & Jakupciak, J. P. (2006) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.6.4.587 · Cited by 10
Structural Dynamics Role of AGG Interruptions in Inhibition CGG Repeat Expansion Associated with Fragile X Syndrome
Shen, Y.-I., Cheng, K.-C., Wei, Y.-J., & Lee, I. (2023) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.3c00712 · Cited by 9
Bridging the gap: R-loop mediated genomic instability and its implications in neurological diseases
Westover, K. R., Jin, P., & Yao, B. (2024) · Epigenomics · doi:10.2217/epi-2023-0379 · Cited by 11
The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress
Holt, I., Lam, L. T., Tomé, S., Wansink, D. G., Riele, H. T., Gourdon, G., & Morris, G. E. (2011) · Journal of Cellular Biochemistry · doi:10.1002/jcb.23075 · Cited by 9
“Recently, MMR and especially Mutsb has been recognized as a major player in trinucleotide repeat instability [Pearson et al., 2005].”
Background
Drastic stability change of X-X mismatch in d(CXG) trinucleotide repeat disorders under molecular crowding condition
Teng, Y., Pramanik, S., Tateishi‐Karimata, H., Ohyama, T., & Sugimoto, N. (2018) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2018.01.083 · Cited by 10
All in the Family: Repeats and ALS/FTD
Pattamatta, A., Cleary, J. D., & Ranum, L. P. W. (2018) · Trends in Neurosciences · doi:10.1016/j.tins.2018.03.010 · Cited by 9
Deletion of the GAPDH gene contributes to genome stability in Saccharomyces cerevisiae
Hanasaki, M., Yaku, K., Yamauchi, M., Nakagawa, T., & Masumoto, H. (2020) · Scientific Reports · doi:10.1038/s41598-020-78302-5 · Cited by 8
Short Tandem Repeats and Genetic Variation
Madsen, B. E., Villesen, P., & Wiuf, C. (2010) · Methods in molecular biology · doi:10.1007/978-1-60327-367-1_16 · Cited by 9
Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington’s disease
Choi, D. E., Shin, J. W., Zeng, S., Hong, E. P., Jang, J.-H., Loupe, J. M., Wheeler, V. C., Stutzman, H. E., Kleinstiver, B., & Lee, J. (2023) · eLife · doi:10.7554/elife.89782 · Cited by 33
“…age- at-onset and respective CAG repeat length ( Gusella and MacDonald, 2000 ; Orr and Zoghbi, 2007 ; Orr et al., 1993 ; Pulst et al., 1996 ; Stevanin et al., 2000 ; Zoghbi and Orr, 2000 ; Schöls et al., 2004 ; Pearson et al., 2005 ; Andrew et al., 1993 ; Duyao et al., 1993 ; Lee et al., 2012 ).”
Background
Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells
Yanovsky‐Dagan, S. (2015) · World Journal of Stem Cells · doi:10.4252/wjsc.v7.i5.823 · Cited by 10
Detailed assessment of gene activation levels by multiple hypoxia-responsive elements under various hypoxic conditions
Takeuchi, Y., Inubushi, M., Jin, Y.-N., Murai, C., Tsuji, A. B., Hata, H., Kitagawa, Y., & Saga, T. (2014) · Annals of Nuclear Medicine · doi:10.1007/s12149-014-0901-2 · Cited by 9
“The rationale for using 12HRE in SPECT imaging in spite of the saturation effect seen when using more than 6 or 8 copies of HREs was that tandem repeat DNA sequences are commonly known to be unstable and, consequently, the number of repeats may decrease during DNA replication, repair, and recombination in vivo [28, 29…”
Method
DNA Dynamics Is Likely to Be a Factor in the Genomic Nucleotide Repeats Expansions Related to Diseases
Alexandrov, B. S., Valtchinov, V. I., Alexandrov, L. B., Gelev, V., Dagon, Y., Bock, J., Kohane, I. S., Rasmussen, K. Ø., Bishop, A. R., & Usheva, A. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019800 · Cited by 9
“disorders typically have large and variable repeat expansions [6]”
Background
Overexpression of the single‐stranded DNA‐binding protein (SSB) stabilises CAG•CTG triplet repeats in an orientation dependent manner
Andreoni, F., Darmon, E., Poon, W. C. K., & Leach, D. R. F. (2009) · FEBS Letters · doi:10.1016/j.febslet.2009.11.042 · Cited by 9
“The fact that TNRs can form DNA secondary structures supports the widely accepted hypothesis that polymerase slippage is the primary cause of instability [9,10].”
Background
Pathogenesis of polyglutamine diseases: Piecing together a complex molecular puzzle
Gonzalez, E. V., & Zoghbi, H. Y. (2025) · The Journal of Experimental Medicine · doi:10.1084/jem.20241336 · Cited by 11
The deoxyribose phosphate lyase of DNA polymerase β suppresses a processive DNA synthesis to prevent trinucleotide repeat instability
Lai, Y., Weizmann, Y., & Liu, Y. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky700 · Cited by 8
“Major DNA repair pathways including DNA base excision repair (BER) (9), mismatch repair (MMR) (10) and transcription coupled-nucleotide excision repair (TC-NER) (11) are all involved in modulating TNR instability.”
Background
SNP Formation Bias in the Murine Genome Provides Evidence for Parallel Evolution
Plyler, Z. E., Hill, A. E., McAtee, C. W., Cui, X., Moseley, L. A., & Sorscher, E. J. (2015) · Genome Biology and Evolution · doi:10.1093/gbe/evv150 · Cited by 8
Chromosomal structural changes and microsatellite variations in newly synthesized hexaploid wheat mediated by unreduced gametes
Li, H., Wang, Y., Guo, X., DU, Y., WANG, C., & Ji, W. (2016) · Journal of Genetics · doi:10.1007/s12041-016-0704-4 · Cited by 8
“Microsatellite genesis is a complex evolutionary dynamic process, while the mechanism of SSR change in repeat number is suggested to be determined by mutation rate (Ellegren 2004; Pearson et al. 2005).”
Background
Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR
Gomes-Pereira, M., & Monckton, D. G. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00153 · Cited by 9
“A number of different molecular mechanisms of trinucleotide repeat expansion have been suggested, involving aberrant DNA replication, DNA repair and/or DNA homologous recombination (Richards and Sutherland, 1994; Richard and Pâques, 2000; Pearson et al., 2005; Gomes-Pereira and Monckton, 2006; Mirkin, 2007; McMurray,…”
BackgroundInfluential
micRocounter: Microsatellite Characterization in Genome Assemblies
Lo, J., Jonika, M. M., & Blackmon, H. (2019) · G3 Genes Genomes Genetics · doi:10.1534/g3.119.400335 · Cited by 8
“Thesesequencesareprimarilyfoundinnon-coding regions of the genome, although some are located in regulatory or intronic regions (Pearson et al. 2005).”
Background
Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington’s Disease
Hong, E. P., Chao, M. J., Massey, T. H., McAllister, B., Lobanov, S. V., Jones, L., Holmans, P., Kwak, S., Orth, M., Ciosi, M., et al. (2021) · Journal of Huntington s Disease · doi:10.3233/jhd-210485 · Cited by 8
2-Amino-1,8-naphthyridine Dimer (ANP77), a High-Affinity Binder to the Internal Loops of C/CC and T/CC Sites in Double-Stranded DNA
Das, B., Nagano, K., Kawai, G., Murata, A., & Nakatani, K. (2021) · The Journal of Organic Chemistry · doi:10.1021/acs.joc.1c02383 · Cited by 7
Chinese homozygous Machado–Joseph disease (MJD)/SCA3: a case report
Zeng, S., Zeng, J., He, M., Zeng, X., Zhou, Y., Liu, Z., Jiang, H. F., Tang, B., & Wang, J. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2014.117 · Cited by 8
Allelic Gene Structure Variations in Anopheles gambiae Mosquitoes
Li, J., Ribeiro, J. M. C., & Yan, G. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010699 · Cited by 8
“First, the deletions/ insertions mutations within exon regions simulate IntronR alternative splicing [34]; Second, tandem repeats at processing sites cause allelic structure variations, since tandem repeats are highly unstable [35].”
Background
Distribution of CTG repeats at the DMPK gene in myotonic distrophy patients and healthy individuals from the Mexican population
Magaña, J. J., Cortés-Reynosa, P., Escobar‐Cedillo, R. E., Gómez, R., Leyva‐García, N., & Cisneros, B. (2010) · Molecular Biology Reports · doi:10.1007/s11033-010-0235-7 · Cited by 8
Regulatory Potential of Competing Endogenous RNAs in Myotonic Dystrophies
Kościańska, E., Kozłowska, E., & Fiszer, A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22116089 · Cited by 8
Analysis of Simple and Imperfect Microsatellites in Ebolavirus Species and Other Genomes of Filoviridae Family
Alam, C. M., Sharfuddin, C., & Ali, S. (2015) · Gene Cell and Tissue · doi:10.17795/gct-26404 · Cited by 8
Differential efficacies of Cas nucleases on microsatellites involved in human disorders and associated off-target mutations
Poggi, L., Emmenegger, L., Descorps‐Declère, S., Dumas, B., & Richard, G. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab569 · Cited by 8
Behavioural phenotypes
Skuse, D., & Slator, L. (2008) · Psychiatry · doi:10.1016/j.mppsy.2008.05.002 · Cited by 8
Structure and Dynamics of DNA and RNA Double Helices Formed by d(CTG), d(GTC), r(CUG), and r(GUC) Trinucleotide Repeats and Associated DNA–RNA Hybrids
Fakharzadeh, A., Qu, J., Pan, F., Sagui, C., & Roland, C. (2023) · The Journal of Physical Chemistry B · doi:10.1021/acs.jpcb.3c03538 · Cited by 6
The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR
Dandelot, E., & Gourdon, G. (2018) · BioTechniques · doi:10.2144/btn-2018-0035 · Cited by 8
Development of a selective ligand for G–G mismatches of CGG repeat RNA inducing the RNA structural conversion from the G-quadruplex into a hairpin-like structure
Murase, H., Nagatsugi, F., & Sasaki, S. (2022) · Organic & Biomolecular Chemistry · doi:10.1039/d2ob00279e · Cited by 7
Genome-wide simple sequence repeat analysis and specific molecular marker development of rye
Li, Z., Zhao, L., Yang, T., Tang, J., Yu, M., & Ren, T. (2024) · BMC Genomics · doi:10.1186/s12864-024-10689-1 · Cited by 7
Small molecule-induced trinucleotide repeat contractions during in vitro DNA synthesis
Dohno, C., Hagihara, M., Zaifuddin, N. B. M., Nihei, M., Saito, K., & Nakatani, K. (2021) · Chemical Communications · doi:10.1039/d1cc00349f · Cited by 7
The sequence of the repetitive motif influences the frequency of multistep mutations in Short Tandem Repeats
Antão-Sousa, S., Pinto, N., Rende, P., Amorim, A., & Gusmão, L. (2023) · Scientific Reports · doi:10.1038/s41598-023-32137-y · Cited by 7
Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias
Taroni, F., Chiapparini, L., & Mariotti, C. (2012) · Springer eBooks · doi:10.1007/978-94-007-1333-8_101 · Cited by 7
Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2)
Zeigelboim, B. S., Teive, H. A. G., Sampaio, R., Jurkiewicz, A. L., & Liberalesso, P. B. N. (2011) · Arquivos de Neuro-Psiquiatria · doi:10.1590/s0004-282x2011000600007 · Cited by 7
E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA·TTC) sequence
Bourn, R. L., Rindler, P. M., Pollard, L., & Bidichandani, S. I. (2008) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2008.11.003 · Cited by 7
“These expanded triplet repeat tracts, involving (CTG·CAG)n, (CGG·CCG)n, or (GAA·TTC)n sequences, are known to be unstable in vivo in somatic cells and during intergenerational transmission [7,8].”
Background
Chromosomal model for analysis of a long CTG/CAG tract stability in wild-type Escherichia coli and its nucleotide excision repair mutants.
Szwarocka, S. T. S. T., Stączek, P., & Parniewski, P. (2007) · Canadian Journal of Microbiology (print) · doi:10.1139/w07-047 · Cited by 8
“These molecular mechanisms responsible for the genetic instability of TRS are additionally influenced by many factors (Pearson et al. 2005).”
Background
SSREnricher: a computational approach for large-scale identification of polymorphic microsatellites based on comparative transcriptome analysis
Luo, W., Wu, Q., Yang, L., Chen, P., Yang, S., Wang, T., Wang, Y., & Du, Z. (2020) · PeerJ · doi:10.7717/peerj.9372 · Cited by 7

Authors: Pearson, C. E., Edamura, K. N., & Cleary, J. D.
Affiliations: University of Toronto (CA)
Hospital for Sick Children (CA)
Corresponding author: Pearson, Christopher E.
ORCID: Pearson, Christopher E.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2005-10
Volume: 6
Issue: 10
Pages: 729-742
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg1689
OpenAlex: W2087505473
Cited by: 924
References: 157
Citations by year: 2026: 13 · 2025: 23 · 2024: 45 · 2023: 29 · 2022: 25 · 2021: 54 · 2020: 27 · 2019: 38 · 2018: 53 · 2017: 45 · 2016: 58 · 2015: 41 · 2014: 55 · 2013: 46 · 2012: 56
FWCI: 3.89
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Keywords: repeat instability, dynamic mutation, trinucleotide repeat disorders, neurodegenerative diseases, neuromuscular disorders, cis-regulatory elements, trans-acting proteins, DNA replication, DNA repair, DNA recombination, DNA secondary structure
MeSH terms: DNA Repair, DNA Replication, Humans, Models, Genetic, Mutation, Recombination, Genetic, Trinucleotide Repeat Expansion, Heredodegenerative Disorders, Nervous System, DNA Repeat Expansion, Genomic Instability

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Repeat instability: mechanisms of dynamic mutations

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