The DOI matches its Crossref record; 155 of the 157 references it cites were found in a registry or an index.
Repeat instability: mechanisms of dynamic mutations
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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“By a process that is poorly understood, a small number of specific normal-length STRs undergo somatic or germline expansion and transition to intermediate, pre-mutation, and mutation (affected) repeat unit tract lengths (Mirkin, 2007; Pearson et al., 2005).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Pearson et al., 2005
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 Pearson et al., 2005
Citations
Cites
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DNA methylation represses FMR-1 transcription in fragile X syndrome
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Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain
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Expansion and Length-Dependent Fragility of CTG Repeats in Yeast
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Mismatch repair and DNA damage signalling
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2 of the 157 references couldn’t be matched to a known paper.
Research works printed but not linked: 8
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Cited by
Sorted by citations
Oxidative Stress: A Key Modulator in Neurodegenerative Diseases
Singh, A., Kukreti, R., Saso, L., & Kukreti, S. (2019) · Molecules · doi:10.3390/molecules24081583 · Cited by 2,398
“It has been shown that repairing damaged DNA might lead to the expansion and instability of CAG trinucleotide repeats in mutant Huntingitin [136].”
BackgroundCircular dichroism and conformational polymorphism of DNA
Kypr, J., Kejnovská, I., Renčiuk, D., & Vorlı́čková, M. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp026 · Cited by 1,782
“Poly[d(A)] poly[d(T)] and poly[d(G)] poly[d(C)] adopt unusual B-forms.”
BackgroundInfluentialMechanisms and functions of DNA mismatch repair
Li, G. (2007) · Cell Research · doi:10.1038/cr.2007.115 · Cited by 1,479
Microsatellite markers: an overview of the recent progress in plants
Kalia, R. K., Manoj, K., Kalia, S., Singh, R., & Dhawan, A. K. (2010) · Euphytica · doi:10.1007/s10681-010-0286-9 · Cited by 1,039
“Microsatellite genesis is an evolutionarily dynamic process and has proven to be exceedingly complex (Ellegren 2004; Pearson et al. 2005).”
BackgroundR Loops: From Transcription Byproducts to Threats to Genome Stability
Aguilera, A., & García‐Muse, T. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.04.009 · Cited by 1,029
“Similarly, DNA repeats with the potential to form hairpins are a strong source of DNA breaks and DNA polymerase stalling (reviewed in Aguilera and Gómez-González, 2008; Mirkin and Mirkin, 2007; Pearson et al., 2005).”
Background
Metadata
- 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.
- Venue
- Nature Reviews Genetics
- Published
- 2005-10
- Volume
- 6
- Issue
- 10
- Pages
- 729-742
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- 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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