Mechanisms of trinucleotide repeat instability during human development

McMurray, Cynthia T.

doi:10.1038/nrg2828

Cited by 496Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancerGenetics and Neurodevelopmental Disorders

Mechanisms of trinucleotide repeat instability during human development

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McMurray, Cynthia T.·2010·Nature Reviews Genetics

DOI 10.1038/nrg2828PMC PMC3175376

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Abstract

Trinucleotide expansion underlies several human diseases. Expansion occurs during multiple stages of human development in different cell types, and is sensitive to the gender of the parent who transmits the repeats. Repair and replication models for expansions have been described, but we do not know whether the pathway involved is the same under all conditions and for all repeat tract lengths, which differ among diseases. Currently, researchers rely on bacteria, yeast and mice to study expansion, but these models differ substantially from humans. We need now to connect the dots among human genetics, pathway biochemistry and the appropriate model systems to understand the mechanism of expansion as it occurs in human disease.

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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 McMurray, 2010
More than 25 inherited human disorders are caused by the unstable expansion of repetitive DNA sequences termed short tandem repeats (STRs).
“More than 25 inherited human disorders are caused by the unstable expansion of repetitive DNA sequences termed short tandem repeats (STRs).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as McMurray, 2010
Normal-length STR tracts are generally stable across generations and among somatic tissues in the same individual.
“Normal-length STR tracts are generally stable across generations and among somatic tissues in the same individual (McMurray, 2010).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as McMurray, 2010
A large number of daSTRs known to undergo paternal instability co-localized to boundaries in mouse sperm and not in mouse oocytes.
“Notably, a large number of daSTRs known to undergo paternal instability (McMurray, 2010; Pearson et al., 2005) co-localized to boundaries in mouse sperm and not in mouse oocytes (Du et al., 2017), suggesting that daSTRs could be at boundaries when germ line expansion takes place (Figure S3).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as McMurray, 2010
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 McMurray, 2010

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Increased trinucleotide repeat instability with advanced maternal age.
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MSH2-Dependent Germinal CTG Repeat Expansions Are Produced Continuously in Spermatogonia from DM1 Transgenic Mice
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Huntington disease expansion mutations in humans can occur before meiosis is completed
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MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice
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Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic [correction of amitotic] mutation mechanism [published erratum appears in Hum Mol Genet 1999 Apr;8(4):717]
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Replication fork regression in repetitive DNAs
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The efficiency and fidelity of 8-oxo-guanine bypass by DNA polymerases δ and η
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Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline
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Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells
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Base Stacking and Even/Odd Behavior of Hairpin Loops in DNA Triplet Repeat Slippage and Expansion with DNA Polymerase
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Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates.
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A Universal Mechanism Ties Genotype to Phenotype in Trinucleotide Diseases
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Intergenerational Instability of the Expanded CTG Repeat in the DMPK Gene: Studies in Human Gametes and Preimplantation Embryos
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Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease
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Self-citation
Widespread distribution of DNA glycosylases removing oxidative DNA lesions in human and rodent brains
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Self-citation
Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene
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Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG
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The Effect of DNA Replication Mutations on CAG Tract Stability in Yeast
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Xeroderma Pigmentosum Complementation Group E Protein (XPE/DDB2): Purification of Various Complexes of XPE and Analyses of Their Damaged DNA Binding and Putative DNA Repair Properties
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Activities and Mechanism of DNA Polymerase β
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Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model
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Genome instability and DNA repair in brain, ageing and neurological disease
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Chromatin Remodeling in the Noncoding Repeat Expansion Diseases
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Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations
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Self-citation
Examination of Factors Associated with Instability of the FMR1 CGG Repeat
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Incision-dependent and error-free repair of (CAG)n/(CTG)n hairpins in human cell extracts
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DNA polymerase β-dependent long patch base excision repair in living cells
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DNA Ligase I Competes with FEN1 to Expand Repetitive DNA Sequences in Vitro
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Transcriptional Properties of RNA Polymerase II within Triplet Repeat-containing DNA from the Human Myotonic Dystrophy and Fragile X Loci
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Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities
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Germline mutational dynamics in myotonic dystrophy type 1 males
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Distinct Nucleotide Binding/Hydrolysis Properties and Molar Ratio of MutSα and MutSβ Determine Their Differential Mismatch Binding Activities
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Replication strand preference for deletions associated with DNA palindromes
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Crosstalk of DNA glycosylases with pathways other than base excision repair
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Self-citation
Roles of the Escherichia coli RecA Protein and the Global SOS Response in Effecting DNA Polymerase Selection In Vivo
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Purification and Characterization of NEIL1 and NEIL2, Members of a Distinct Family of Mammalian DNA Glycosylases for Repair of Oxidized Bases
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8-Oxoguanine DNA glycosylase (Ogg1) causes a transcriptional inactivation of damaged DNA in the absence of functional Cockayne syndrome B (Csb) protein
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The nucleotide binding dynamics of human MSH2–MSH3 are lesion dependent
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Self-citation
Patterns of diversity among SINE elements isolated from three Y-chromosome genes in carnivores.
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Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease
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Instability in the transmission of the myotonic dystrophy CTG repeat in human oocytes and preimplantation embryos
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Deletion errors generated during replication of CAG repeats
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Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1
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Analysis of CGG variation through 642 meioses in Fragile X families
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Single-stranded DNA-binding Protein in Vitro Eliminates the Orientation-dependent Impediment to Polymerase Passage on CAG/CTG Repeats
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Self-citation
Translesion Replication by DNA Polymerase β Is Modulated by Sequence Context and Stimulated by Fork-like Flap Structures in DNA
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Flagged first, then by citations

1 of the 129 references couldn’t be matched to a known paper.

Sorted by citations

Causes and consequences of replication stress
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Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective
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Replication fork reversal in eukaryotes: from dead end to dynamic response
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Causes of genome instability
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Tandem repeats mediating genetic plasticity in health and disease
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Detection of long repeat expansions from PCR-free whole-genome sequence data
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Telomeres and age-related disease: how telomere biology informs clinical paradigms
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Somatic mosaicism: implications for disease and transmission genetics
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On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
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Properties and rates of germline mutations in humans
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Flap Endonuclease 1
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A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
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Common fragile sites: mechanisms of instability revisited
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Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries
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“Normal-length STR tracts are generally stable across generations and among somatic tissues in the same individual (McMurray, 2010).”
Influential
Telomerase and idiopathic pulmonary fibrosis
Armanios, M. (2012) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2011.10.013 · Cited by 245 · see citing works
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
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Measuring psychological stress and strain at work - Evaluation of the COPSOQ Questionnaire in Germany.
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The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
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Dynamic alternative DNA structures in biology and disease
Wang, G., & Vasquez, K. M. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-022-00539-9 · Cited by 196 · see citing works
“Expansions of non-B DNA structure-forming repeats have been implicated in many diseases via various mechanisms, depending on the sequence, length and/or the location of repeats in the affected genes (reviewed in refs.(26,28)).”
Mechanisms for stalled replication fork stabilization: new targets for synthetic lethality strategies in cancer treatments
Liao, H., Ji, F., Helleday, T., & Ying, S. (2018) · EMBO Reports · doi:10.15252/embr.201846263 · Cited by 185 · see citing works
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
Yrigollen, C. M., Durbin-Johnson, B., Gane, L., Nelson, D. L., Hagerman, R., Hagerman, P. J., & Tassone, F. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.34 · Cited by 179 · see citing works
Repeat instability during DNA repair: Insights from model systems
Usdin, K., House, N. C. M., & Freudenreich, C. H. (2015) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409238.2014.999192 · Cited by 168 · see citing works
Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops
Gupta, S., Gellert, M. F., & Yang, W. (2011) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2175 · Cited by 167 · see citing works
Genome integrity and disease prevention in the nervous systemPreprint
McKinnon, P. J. (2017) · Genes & Development · doi:10.1101/gad.301325.117 · Cited by 155 · see citing works
Somatic Mosaicism in the Human Genome
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How unfinished business from S‐phase affects mitosis and beyond
Mankouri, H. W., Huttner, D., & Hickson, I. D. (2013) · The EMBO Journal · doi:10.1038/emboj.2013.211 · Cited by 149 · see citing works
FAN1 modifies Huntington’s disease progression by stabilizing the expanded HTT CAG repeat
Goold, R., Flower, M. D., Moss, D. J. H., Medway, C., Wood‐Kaczmar, A., André, R., Farshim, P. P., Bates, G. P., Holmans, P., Jones, L., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy375 · Cited by 143 · see citing works
Role of oxidative DNA damage in mitochondrial dysfunction and Huntington’s disease pathogenesis
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TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease
Fautsch, M. P., Wieben, E. D., Baratz, K. H., Bhattacharyya, N., Sadan, A. N., Hafford‐Tear, N. J., Tuft, S. J., & Davidson, A. E. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100883 · Cited by 141 · see citing works
Structural, molecular and cellular functions of MSH2 and MSH6 during DNA mismatch repair, damage signaling and other noncanonical activities
Edelbrock, M. A., Saravanan, K., & Williams, K. J. (2013) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2012.12.008 · Cited by 139 · see citing works
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
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Stepwise Activation of the ATR Signaling Pathway upon Increasing Replication Stress Impacts Fragile Site Integrity
Koundrioukoff, S., Carignon, S., Técher, H., Letessier, A., Brison, O., & Debatisse, M. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003643 · Cited by 137 · see citing works
On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
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New insights into the mechanism of DNA mismatch repair
Reyes, G. X., Schmidt, T. T., Kolodner, R. D., & Hombauer, H. (2015) · Chromosoma · doi:10.1007/s00412-015-0514-0 · Cited by 132 · see citing works
DNA triplet repeat expansion and mismatch repair
Iyer, R. R., Pluciennik, A., Napierala, M., & Wells, R. D. (2015) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060614-034010 · Cited by 130 · see citing works
Chromatin modifications and DNA repair: beyond double-strand breaks
House, N. C. M., Koch, M. R., & Freudenreich, C. H. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00296 · Cited by 128 · see citing works
Mismatch Repair Balances Leading and Lagging Strand DNA Replication Fidelity
Lujan, S. A., Williams, J. S., Pursell, Z. F., Abdulovic-Cui, A. A., Clark, A., McElhinny, S. A. N., & Kunkel, T. A. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1003016 · Cited by 125 · see citing works
Regulation of recombination at yeast nuclear pores controls repair and triplet repeat stabilityPreprint
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Repeat‐associated non‐AUG translation in C9orf72‐ALS/FTD is driven by neuronal excitation and stress
Westergard, T., McAvoy, K., Russell, K. A., Wen, X., Pang, Y., Verdone, B. M., Pasinelli, P., Trotti, D., & Haeusler, A. R. (2019) · EMBO Molecular Medicine · doi:10.15252/emmm.201809423 · Cited by 121 · see citing works
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Authors: McMurray, C. T.
Affiliations: Lawrence Berkeley National Laboratory (US)
Corresponding author: McMurray, Cynthia T.
ORCID: McMurray, Cynthia T.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2010-10-18
Volume: 11
Issue: 11
Pages: 786-799
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg2828
PMC: PMC3175376
OpenAlex: W1970814720
Cited by: 496
References: 129
Citations by year: 2026: 12 · 2025: 18 · 2024: 30 · 2023: 23 · 2022: 21 · 2021: 29 · 2020: 28 · 2019: 35 · 2018: 41 · 2017: 31 · 2016: 41 · 2015: 38 · 2014: 28 · 2013: 48 · 2012: 42
FWCI: 3.33
Type: journal article
Language: en
Update notices: erratum (2010-11-10)
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health
National Cancer Institute (CA-092584, P01CA092584)
National Institute of General Medical Sciences (GM 066359, R01GM066359)
National Institute of Neurological Disorders and Stroke (NS069177, RC1NS069177, R01NS040738, R01NS060115, R01NS062384, NS 40738, NS060115, NS062384)
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 › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: trinucleotide repeat expansion, repeat instability, human development, DNA repair, DNA replication, model organisms, trinucleotide repeat disorders
MeSH terms: Animals, Female, Humans, Human Development, Male, Models, Biological, Saccharomyces cerevisiae, Spermatogonia, Trinucleotide Repeats, Trinucleotide Repeat Expansion, Chromosomal Instability, Growth and Development, Mice

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Mechanisms of trinucleotide repeat instability during human development

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