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Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.
Open accessAbstract
Myotonic dystrophy is caused by an expansion of a CTG triplet repeat sequence in the 3' noncoding region of a protein kinase gene, yet the mechanism by which the triplet repeat expansion causes disease remains unknown. This report demonstrates that a DNase I hypersensitive site is positioned 3' of the triplet repeat in the wild-type allele in both fibroblasts and skeletal muscle cells. In three unrelated individuals with myotonic dystrophy that have large expansions of the triplet repeat, the allele with the triplet repeat expansion exhibited both overall DNase I resistance and inaccessibility of nucleases to the adjacent hypersensitive site. These results indicate that the triplet repeat expansion alters the adjacent chromatin structure, establishing a region of condensed chromatin, and suggests a molecular mechanism for myotonic dystrophy.
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Citations
Cited by
Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
Miller, J. W. (2000) · The EMBO Journal · doi:10.1093/emboj/19.17.4439 · Cited by 937
Repeat instability: mechanisms of dynamic mutations
Pearson, C. E., Edamura, K. N., & Cleary, J. D. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1689 · Cited by 924
Antisense Transcription and Heterochromatin at the DM1 CTG Repeats Are Constrained by CTCF
Cho, D. H., Thienes, C. P., Mahoney, S. E., Analau, E., Filippova, G. N., & Tapscott, S. J. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.09.002 · Cited by 286
Self-citationDNA triplet repeat expansion and mismatch repair
Iyer, R. R., Pluciennik, A., Napierala, M., & Wells, R. D. (2015) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060614-034010 · Cited by 130
Steinbach, P., Gläser, D., Vogel, W., Wolf, M., & Schwemmle, S. (1998) · The American Journal of Human Genetics · doi:10.1086/301711 · Cited by 116
Metadata
- Authors
- Otten, A. D., & Tapscott, S. J.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1995-06-06
- Volume
- 92
- Issue
- 12
- Pages
- 5465-5469
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2012245463
- Cited by
- 188
- References
- 0
- FWCI
- 4.32
- Type
- journal article
- Language
- en
- Open access
- green
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- Otten, A. D., & Tapscott, S. J. (1995). Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.92.12.5465
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