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Article

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.

Molecular genetics and metabolism - 1 Jan 2000

Frisch R, Singleton K R, Moses P A, Gonzalez I L, Carango P, Marks H G, Funanage V L

Abstract excerpt

Myotonic dystrophy (DM), an autosomal dominant neuromuscular disease, is associated with expansion of a polymorphic (CTG)n repeat in the 3'-untranslated region of the DM protein kinase (DMPK) gene. The repeat expansion results in decreased levels of DMPK mRNA and protein, but the mechanism for this decreased expression is unknown. Loss of a nuclease-hypersensitive site in the region of the repeat expansion has...

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Source

Identifiers

PMID: 11592825
DOI: 10.1006/mgme.2001.3229

Genes

DMPK
SIX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.PMID 11592825Read ↗

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.Semantic proximity Read ↗

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat.Semantic proximity Read ↗

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeatSemantic proximity Read ↗

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP geneSemantic proximity Read ↗

Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.Semantic proximity Read ↗

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem CellsSemantic proximity Read ↗

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.Semantic proximity Read ↗

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.Semantic proximity Read ↗

Somatic instability of CTG repeat in myotonic dystrophy.Semantic proximity Read ↗

In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array.Semantic proximity Read ↗

Deletion of the CTG Expansion in Myotonic Dystrophy Type 1 Reverses <i>DMPK</i> Aberrant Methylation in Human Embryonic Stem Cells but not Affected MyoblastsSemantic proximity Read ↗

Myotonic dystrophy: molecular windows on a complex etiology.Semantic proximity Read ↗

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