Effect on gene expression of the expanded CTG repeat on 3'-untranslated region of myotonic dystrophy (DM) protein kinase

H. Furuya, N. Imai, K. Shiokawa, Jun-Ichi Kira

Research output: Contribution to journalReview article

Abstract

Myotonic dystrophy is an autosomal dominant heritable disease associated with an expansion of CTG trinucleotide repeat within 3' untranslated region of the DMPK gene. The key question is how the mutation in the 3' untranslated region of the DMPK gene exerts an dominant effect at the cellular level, despite the fact that it does not alter the protein coding region of the gene. Although the mechanism of myotonic dystrophy remains controversial, some evidence suggests that CUG repeats in the DMPK mRNA may have pathological effects. A hypothesis on molecular mechanism of DM pathogenesis, in terms of RNA-protein interactions and regulation of gene expression through the 3' untranslated region of mRNAs, was discussed.

Original languageEnglish
Pages (from-to)932-936
Number of pages5
JournalNippon rinsho. Japanese journal of clinical medicine
Volume57
Issue number4
Publication statusPublished - Jan 1 1999
Externally publishedYes

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3' Untranslated Regions
Myotonic Dystrophy
Gene Expression
Trinucleotide Repeat Expansion
Dominant Genes
Messenger RNA
Gene Expression Regulation
Open Reading Frames
Genes
RNA
Mutation
Myotonin-Protein Kinase
Proteins

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Effect on gene expression of the expanded CTG repeat on 3'-untranslated region of myotonic dystrophy (DM) protein kinase. / Furuya, H.; Imai, N.; Shiokawa, K.; Kira, Jun-Ichi.

In: Nippon rinsho. Japanese journal of clinical medicine, Vol. 57, No. 4, 01.01.1999, p. 932-936.

Research output: Contribution to journalReview article

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