The DOI matches its Crossref record; 128 of the 129 references it cites were found in a registry or an index.
Mechanisms of trinucleotide repeat instability during human development
Open accessAbstract
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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
In the citing paper
“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
In the citing paper
“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
In the citing paper
“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
In the citing paper
“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
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η
Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., & Hanaoka, F. (1999) · Nature · doi:10.1038/21447 · Cited by 1,292
Transcription-coupled DNA repair: two decades of progress and surprises
Hanawalt, P. C., & Spivak, G. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2549 · Cited by 1,081
Expandable DNA repeats and human disease
Mirkin, S. M. (2007) · Nature · doi:10.1038/nature05977 · Cited by 934
Eukaryotic Translesion Polymerases and Their Roles and Regulation in DNA Damage Tolerance
Waters, L. S., Minesinger, B. K., Wiltrout, M. E., D'Souza, S., Woodruff, R. V., & Walker, G. C. (2009) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00034-08 · Cited by 591
Mutagenicity, toxicity and repair of DNA base damage induced by oxidation
Bjelland, S., & Seeberg, E. C. (2003) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2003.07.002 · Cited by 526
Repeat expansion disease: progress and puzzles in disease pathogenesis
Spada, A. R. L., & Taylor, J. P. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2748 · Cited by 497
Fousteri, M., & Mullenders, L. H. (2008) · Cell Research · doi:10.1038/cr.2008.6 · Cited by 487
Replication fork stalling at natural impediments
Mirkin, E. V., & Mirkin, S. M. (2007) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00030-06 · Cited by 482
Mechanisms in Eukaryotic Mismatch Repair
Modrich, P. L. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.r600022200 · Cited by 459
Cited by
Sorted by citations
Items 401–485 of 485
Oxidative DNA Damage Modulates Trinucleotide Repeat Instability Via DNA Base Excision Repair
Xu, M. (2014) · FIU - Digital Commons (Florida International University) · doi:10.25148/etd.fi14110704
In Silico Analysis of Tandem Repeats in GIF of Gastric Parietal CellsPreprint
Tee, S.-H. (2013) · arXiv (Cornell University) · doi:10.48550/arxiv.1302.2047
79 Thermodynamic and kinetic studies of trinucleotide repeat (TNR) DNA
Huang, J. W., & Delaney, S. (2013) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2013.786513
Delagoutte, E., & Baldacci, G. (2011) · Molecular Biology International · doi:10.4061/2011/213824
Epigenomics in Neurobehavioral Diseases
Smith, C. L., & Huang, K. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-388415-2.00007-x
A Genome-Wide RNAi Screen for Modifiers of Polyglutamine-Induced Neurotoxicity in Drosophila
Voßfeldt, H. (2013) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-3767
Emerging Clinical Applications and Pharmacology of RNA
Barik, S., & Bitko, V. (2012) · Wiley-VCH eBooks · doi:10.1002/3527600906.mcb.200400102.pub2
Patent Highlights June–July 2015
Mucke, H. A. (2015) · Pharmaceutical Patent Analyst · doi:10.4155/ppa.15.27
Petit, A. (2015) · TDX (Tesis Doctorals en Xarxa)
O gênero Peperomia da Ilha da Trindade : um caso de isolamento?
Dantas, T. S. (2015) · doi:10.26512/2015.01.d.18218
Platt, V. M., Lee, D. Y., Canaria, C. A., Frankel, K. A., Bernstein, S. L., & McMurray, C. T. (2013) · Methods in molecular biology · doi:10.1007/978-1-62703-411-1_14
Self-citationStrauss, B. S. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374430-2.00001-8
G-Quadruplex Dna Structures And Site Specific Genetic Instability
Williams, J. D. (2015) · ISU Red - Research and eData (Illinois State University) · doi:10.30707/etd2015.williams.j
Khoshnevis, S., & NC DOCKS at The University of North Carolina at Charlotte (2013) · NC Digital Online Collection of Knowledge and Scholarship (The University of North Carolina at Greensboro)
Interaction of the NuA4 Complex and Chromatin Modifications with the DNA Damage Tolerance Pathway
Renaud-Young, M. M. (2015) · Libraries and Cultural Resources (University of Calgary) · doi:10.11575/prism/26597
Chromatin Modifications in DNA Repair and Cancer
Renaud-Young, M. M., Riabowol, K. T., & Cobb, J. A. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803309-8.00028-8
Li, Y. (2016) · DukeSpace (Duke University)
Jiang, Y., Lu, J., Hou, J., & Zhou, W. (2016) · Australasian Computer Science Week Multiconference (ACSW) · doi:10.1145/3014812.3014816
USP9X controls DNA replication fork stability and the replication stress checkpoint through Claspin
McGarry, E. (2016) · Arrow@dit (Dublin Institute of Technology) · doi:10.13025/17576
Trinucleotide Repeat Instability is Modulated by DNA Base Lesions and DNA Base Excision Repair
Beaver, J. M. (2016) · FIU - Digital Commons (Florida International University) · doi:10.25148/etd.fidc001178
Experimental DNA- or RNA-Directed Therapies for Trinucleotide Repeat Disease
Cardoso, I. L. (2018) · OBM Genetics · doi:10.21926/obm.genet.1803025
Repetitive DNA sequence assembly
Jiang, Y. (2018) · Figshare
Velmurugan, K. R. (2017) · VTechWorks (Virginia Tech)
Portuguese and Taiwanese Machado-Joseph disease haplotype backgrounds
Almeida, B. (2017) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.34626/66ed-7d02
Trinucleotide Repeat Instability Modulated by DNA Repair Enzymes and Cofactors
Ren, Y. (2018) · FIU - Digital Commons (Florida International University) · doi:10.25148/etd.fidc006873
THE CONTRIBUTION OF MOSAIC MUTATION TO AUTISM SPECTRUM DISORDER
Freed, D. N. (2017)
DNA Base Excision Repair Modulates DNA Repeat Instability and Non-B Form DNA Structures
Laverde, E. E. (2020) · FIU - Digital Commons (Florida International University) · doi:10.25148/etd.fidc008956
Análisis funcional de los genes Usp26 y Hsf2bp como responsables de infertilidad humana
Felipe‐Medina, N. (2020) · Gredos (University of Salamanca) · doi:10.14201/gredos.145499
Investigating the pathogenic mechanism underlying Richieri-Costa-Pereira syndrome
Musso, C. M. (2020) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2020.tde-27112019-160620 · Cited by 1
Chromatin structuring factor HMGA2 controls subtelomere stability and cancer chemosensitivity
Ahmed, S. M. (2020) · DR-NTU (Nanyang Technological University) · doi:10.32657/10356/137770
Hingorani, M. (2012) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.13480968.14859121
Emerging Clinical Applications and Pharmacology of RNA
Barik, S., & Bitko, V. (2014) · Wiley-VCH eBooks · doi:10.1002/3527600906.mcb.200400102.pub3
Kyriacou, C. P. (2018) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.734291335.793552569
Lewis, P. A., & Spillane, J. E. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-811069-0.00006-9
Edelmann, L. J., Scott, S. A., Liu, L., & Kornreich, R. (2012) · Springer eBooks · doi:10.1007/978-1-4614-4800-6_20
Faculty Opinions recommendation of The Top1 paradox: Friend and foe of the eukaryotic genome.
Kaufmann, S. H. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.727745036.793565196
Sugimoto, N. (2021) · Wiley eBooks · doi:10.1002/9783527817856.ch8
Base excision repair in non-canonical DNA structures
(2022) · International Multiconference on Bioinformatics of Genome Regulation and Structure / Systems Biology (BGRS/SB) · doi:10.18699/sbb-2022-575
Saberi, B. (2021) · Bioequivalence & Bioavailability International Journal · doi:10.23880/beba-16000152
DNA Replication Stress and Genome Instability in Breast Cancer
Sinha, K., Sang, P. B., Sharma, P., & Jaiswal, R. K. (2023) · Wiley eBooks · doi:10.1002/9783527841165.ch2
Lü, J., Toro, C., Adams, D. R., Undiagnosed Diseases Network, Acosta, M. T., Adam, M. P., Alvarez, R. L., Alvey, J. C., Amendola, L. M., Andrews, A., et al. (2024) · BMC Genomics · doi:10.1186/s12864-023-09935-9
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. (2024) · eLife · doi:10.7554/elife.89782.2.sa4
Lai, Y., Diaz, N. S., Armbrister, R., Agoulnik, I. U., & Liu, Y. (2024) · Biomolecules · doi:10.3390/biom14070809
Guo, J., Yang, W., & Li, G. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.09.29.615664
Replication of DNA Containing Trinucleotide Repeats by the Bacteriophage T7 Replisome
Lee, S., Urbano, S., Mitsunobu, H., & Hernandez, A. J. (2026) · Journal of Molecular Biology · doi:10.1016/j.jmb.2026.170012
Yu, Z., Liang, Y., Xiang, M., Xu, K., Xu, X., Ran, D., Luo, Y., Chen, B., Bo, X., & Chen, H. (2025) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2025.02.003
Kurasawa, H., Matsuura, Y., Yamane, R., Ohno, T., & Aizawa, Y. (2025) · Genes & Genetic Systems · doi:10.1266/ggs.25-00016
Liu, Y., & Xia, K. (2025) · Genes · doi:10.3390/genes16040406
MASTR-Seq: Multiplexed Analysis of Short Tandem Repeats with SequencingPreprint
Chuanbin, S., Ryu, H.-S., Chandradoss, K. R., Malachowski, T., Boya, R., Nguyen, H. E., Mazzoni, E. O., Brennand, K., & Phillips‐Cremins, J. E. (2025) · SSRN Electronic Journal · doi:10.2139/ssrn.5248535
Disease Diagnosis from DNA Sequence Using GPU-Based Aho–Corasick Algorithm
Krishna, B., Vankdothu, R., Lokhande, S. K., Mahdi, H. F., Nayak, R., Dewangan, B. K., & Choudhary, T. (2025) · Lecture notes in networks and systems · doi:10.1007/978-981-96-5781-0_7
Short tandem repeats and tandem repeat disorders
Ma, R., Liu, T., & Zhu, B. (2025) · Scientia Sinica Vitae · doi:10.1360/ssv-2025-0129
Pepe, G., Storto, M., Pardo, A. D., & Maglione, V. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2025.1617315
Mantey, R., Hu, J., Touhidinia, M., Butt, T., Sidky, A. M., Sobhani, R., Estrada, S., Händler, K., Domenico, E. D., Beyer, M., et al. (2026) · Genome Medicine · doi:10.1186/s13073-026-01702-1
Zhang, L., Shibata, T., Murata, A., Takashima, Y., & Nakatani, K. (2025) · Biochemistry · doi:10.1021/acs.biochem.5c00501
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673276
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673279
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673270
Evaluation of Different Mapping Schemes for Detection of Tandem Repeats in DNA Sequences
Yadav, Y., Sharma, S. N., & Shakya, D. K. (2025) · Communications in computer and information science · doi:10.1007/978-3-031-69115-7_14
Additional file 2 of The features of polyglutamine regions depend on their evolutionary stability
Mier, P., & Andrade-Navarro, M. A. (2020) · Figshare · doi:10.6084/m9.figshare.12364868
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673285
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673273
Mitsuhashi, S., Frith, M. C., & Matsumoto, N. (2021) · Figshare · doi:10.6084/m9.figshare.13543751
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673291
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673282
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673288
Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W.-P., Leung, Y. Y., Harms, M. B., Vardarajan, B. N., & Heinzen, E. L. (2024) · Figshare · doi:10.6084/m9.figshare.26673267
DNA damage reflected in the evolution of G-runs in genomes
Грин, И. Р., & Zharkov, D. O. (2025) · Vavilov Journal of Genetics and Breeding · doi:10.18699/vjgb-25-98
Wise, L., Pfanner, M., Duck, E., & Yang, W.-Y. (2026) · SSRN Electronic Journal · doi:10.2139/ssrn.6160530
Evidence that MutSβ repairs indels generated by mispair initiated template slippage
Lujan, S. A., Clark, A. B., Williams, J. S., & Zhou, Z.-X. (2026) · DNA repair · doi:10.1016/j.dnarep.2026.103932
MASTR-seq enables multiplexed analysis of short tandem repeats with sequencing
Chuanbin, S., Ryu, H.-S., Chandradoss, K. R., Malachowski, T., Boya, R., Zhou, L., Nguyen, H. E., Mazzoni, E. O., Brennand, K., & Phillips‐Cremins, J. E. (2026) · Cell Reports Methods · doi:10.1016/j.crmeth.2026.101341
Mechanisms of cell fate and chromatin plasticity during early mouse embryogenesis
Eid, A. (2016) · theses.fr (ABES) · doi:10.70675/ea63a676za513z48d2zb1fbzbe4e8abddf44
MBNL derivatives for therapeutic application in myotonic dystrophy
Matłoka, M. (2019) · theses.fr (ABES) · doi:10.70675/3724d494z55b1z4736zac15z5caf250a9f6c
Les agrégats de PABPN1 dans la dystrophie musculaire oculopharyngée
Roth, F. (2019) · theses.fr (ABES) · doi:10.70675/b88dcc1fza033z4470za8c0z239f89b90fb2
Orvain, C. (2019) · theses.fr (ABES) · doi:10.70675/6c48db5bzeb06z4af8zb7e4z24b9f4446179
Mécanismes de réparations d’une cassure double-brin et résection au sein d’un microsatellite humain
Vaysse-Zinkhöfer, W. (2021) · theses.fr (ABES) · doi:10.70675/315e7956zf006z4518z99adz6282679fa7af
Wei, X., Gong, W., Zheng, Y., Zhang, J., Wei, X., Peng, C., He, X., & Jiang, C. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2606747123
Porcayo, M. A. T., & Vargas, A. N. (2026) · Springer eBooks · doi:10.1007/978-3-032-13454-7_53
BindingDB (2025) · UC San Diego · doi:10.7270/q2k078tm
Luganskaya, P. S., Perepelitsa, E. S., Rubel, A. A., & Rubel, M. S. (2026) · Cell and Tissue Biology · doi:10.1134/s1990519x26600924
Paternal Effects on Metabolism in Mammals: A Dissertation
Shea, J. M. (2015) · eScholarship@UMassChan · doi:10.13028/m27s3c
Metadata
- Authors
- McMurray, C. T.
- Affiliations
- Lawrence Berkeley National Laboratory (US)
- Corresponding author
- McMurray, Cynthia T.
- ORCID
- McMurray, Cynthia T.
- Venue
- Nature Reviews Genetics
- Published
- 2010-10-18
- Volume
- 11
- Issue
- 11
- Pages
- 786-799
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- 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
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
