CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus

Filippova, Galina N.; Thienes, Cortlandt P.; Penn, Bennett H.; Cho, Diane H.; Hu, Ying Jia; Moore, James M.; Klesert, Todd R.; Lobanenkov, Victor V.; Tapscott, Stephen J.

doi:10.1038/ng570

Cited by 332Genetic Neurodegenerative DiseasesGenomics and Chromatin DynamicsGenetics and Neurodevelopmental Disorders

CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus

Filippova, Galina N., Thienes, Cortlandt P., Penn, Bennett H., Cho, Diane H., Hu, Ying Jia, Moore, James M., Klesert, Todd R., Lobanenkov, Victor V. +1 more·2001·Nature Genetics

DOI 10.1038/ng570

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Abstract

An expansion of a CTG repeat at the DM1 locus causes myotonic dystrophy (DM) by altering the expression of the two adjacent genes, DMPK and SIX5, and through a toxic effect of the repeat-containing RNA. Here we identify two CTCF-binding sites that flank the CTG repeat and form an insulator element between DMPK and SIX5. Methylation of these sites prevents binding of CTCF, indicating that the DM1 locus methylation in congenital DM would disrupt insulator function. Furthermore, CTCF-binding sites are associated with CTG/CAG repeats at several other loci. We suggest a general role for CTG/CAG repeats as components of insulator elements at multiple sites in the human genome.

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These observations add a 3D component to the locus-specific evidence that STR instability is linked to alterations of CTCF occupancy.
“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 Filippova et al., 2001
In congenital myotonic dystrophy, the region flanking the DM1 gene is hypermethylated and this methylation disrupts binding of adjacent CTCF binding sites.
“In congenital myotonic dystrophy, the region flanking the DM1 gene is hypermethylated and this methylation disrupts binding of adjacent CTCF binding sites (Filippova et al., 2001; Steinbach et al., 1998).”
From Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries (2018) · cites this paper as Filippova et al., 2001

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The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat
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Authors: Filippova, G. N., Thienes, C. P., Penn, B. H., Cho, D. H., Hu, Y. J., Moore, J. M., Klesert, T. R., Lobanenkov, V. V., & Tapscott, S. J.
Affiliations: Fred Hutch Cancer Center (US)
University of Washington (US)
National Institutes of Health (US)
Corresponding author: Lobanenkov, Victor V.
Tapscott, Stephen J.
ORCID: Thienes, Cortlandt P.
Penn, Bennett H.
Moore, James M.
Lobanenkov, Victor V.
Tapscott, Stephen J.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2001-07-23
Volume: 28
Issue: 4
Pages: 335-343
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng570
OpenAlex: W1523020113
Cited by: 332
References: 46
Citations by year: 2026: 2 · 2025: 4 · 2024: 4 · 2023: 2 · 2022: 10 · 2021: 8 · 2020: 27 · 2019: 12 · 2018: 12 · 2017: 10 · 2016: 7 · 2015: 13 · 2014: 16 · 2013: 12 · 2012: 16
FWCI: 6.26
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: National Cancer Institute (R01-CA68360, R01CA068360)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR45203, R01AR045203)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: CTCF binding sites, insulator elements, DNA methylation, myotonic dystrophy type 1, DMPK, SIX5, repeat expansion, congenital myotonic dystrophy, chromatin looping
MeSH terms: CCCTC-Binding Factor, Binding Sites, Cell Line, Cell-Free System, DNA-Binding Proteins, Humans, Molecular Sequence Data, Myotonic Dystrophy, Nucleosomes, Repressor Proteins, Sequence Homology, Nucleic Acid, Transcription Factors, Nuclear Matrix, Protein Serine-Threonine Kinases, Homeodomain Proteins, CpG Islands, Trinucleotide Repeats, DNA Methylation, Myotonin-Protein Kinase

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CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus

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