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

研究成果: ジャーナルへの寄稿評論記事

抄録

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.

元の言語英語
ページ(範囲)932-936
ページ数5
ジャーナルNippon rinsho. Japanese journal of clinical medicine
57
発行部数4
出版物ステータス出版済み - 1 1 1999
外部発表Yes

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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)

これを引用

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.

:: Nippon rinsho. Japanese journal of clinical medicine, 巻 57, 番号 4, 01.01.1999, p. 932-936.

研究成果: ジャーナルへの寄稿評論記事

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AU - Kira, Jun-Ichi

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