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

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

Pearson, Christopher E., Edamura, Kerrie Nichol, Cleary, John D.·2005·Nature Reviews Genetics
DOI 10.1038/nrg1689
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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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Crossref · 10.1038/nrg1689

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155 of 155 references verified0 citation errors · 0 not checkable

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2 of the 157 references couldn’t be matched to a known paper.

Research works printed but not linked: 8

  1. 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
  2. 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).
  3. 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
  4. 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).
  5. Cleary J. D., Nichol Edamura, K. & Pearson C. E. The complex nature of trinucleotide repeat instability. Chemtracts Biochem. Mol. Biol. 17, 663–676 (2004).
  6. 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).
  7. Strachan, T. & Read, A. P. Human Molecular Genetics 2 2nd edn (John Wiley & Sons, New York, 1999).
  8. 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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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.
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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