Key result
The CTG triplet repeat expansion in myotonic dystrophy alters adjacent chromatin structure, establishing a region of condensed chromatin that obscures an adjacent DNase I hypersensitive site.
Population
Primary fibroblasts from 1 unaffected individual and 3 unrelated adults affected with myotonic dystrophy.
Comparison
In vitro analysis of chromatin structure and… vs Wild-type allele / fibroblasts from unaffected…
Design
Preclinical
Authors
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May alter chromatin at the DMPK locus; leaves open the pathogenic mechanism of CTG expansion in myotonic dystrophy.
The expansion of the CTG triplet repeat in myotonic dystrophy alters adjacent chromatin structure, creating a condensed region that may repress gene transcription and contribute to the disease mechanism.
Otten et al. (1995) studied Myotonic dystrophy (n=4). CTG triplet repeat expansion vs. Wild-type allele was evaluated on DNase I hypersensitivity and chromatin structure adjacent to the triplet repeat. The CTG triplet repeat expansion in myotonic dystrophy alters adjacent chromatin structure, establishing a region of condensed chromatin that obscures an adjacent DNase I hypersensitive site.
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