The DOI matches its Crossref record; 46 of the 46 references it cites were found in a registry or an index.
Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands
Abstract
An increasing number of human genetic disorders are associated with the expansion of trinucleotide repeats. The majority of these diseases are associated with CAG/CTG expansions, including Huntington's disease, myotonic dystrophy and many of the spinocerebellar ataxias. Recently, two new expanded CAG/CTG repeats have been identified that are not associated with a phenotype. Expanded alleles at all of these loci are unstable, with frequent length changes during intergenerational transmission. However, variation in the relative levels of instability, and the size and direction of the length change mutations observed, between the CAG/CTG loci is apparent. We have quantified these differences, taking into account effects of progenitor allele length, by calculating the relative expandability of each repeat. Since the repeat motifs are the same, these differences must be a result of flanking sequence modifiers. We present data that indicate a strong correlation between the relative expandability of these repeats and the flanking GC content. Moreover, we demonstrate that the most expandable loci are all located within CpG islands. These data provide the first insights into the molecular bases of cis -acting flanking sequences modifying the relative mutability of dispersed expanded human triplet repeats.
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“Our observations add a 3D component to the locus-specific evidence that STR instability is linked to alterations of CTCF occupancy (Brock et al., 1999; Cleary et al., 2010; Filippova et al., 2001; Libby et al., 2008; Sopher et al., 2011).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Brock et al., 1999
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Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene
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An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
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Metadata
- Authors
- Brock, G.
- Affiliations
- University of Glasgow (GB)
- Corresponding author
- Brock, G.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1999-06-01
- Volume
- 8
- Issue
- 6
- Pages
- 1061-1067
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2169098034
- Cited by
- 122
- References
- 46
- Citations by year
- 2025: 1 · 2024: 4 · 2023: 1 · 2022: 3 · 2021: 4 · 2020: 1 · 2019: 1 · 2018: 3 · 2017: 5 · 2016: 2 · 2015: 1 · 2013: 3 · 2012: 3
- FWCI
- 3.25
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Muscular Dystrophy Association
- University of Glasgow
- Lister Institute of Preventive Medicine
- Medical Research Council
- U.S. National Library of Medicine
- 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
- CAG/CTG repeat expansion, trinucleotide repeat instability, CpG islands, Huntington's disease, myotonic dystrophy, spinocerebellar ataxia, intergenerational transmission
- MeSH terms
- Base Composition, DNA, Female, Genes, Humans, Male, Mutation, Regulatory Sequences, Nucleic Acid, Spermatozoa, CpG Islands, Trinucleotide Repeat Expansion
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