Abstract
A major challenge in the study of a new genetic entity called triplet-repeat disease is to identify the role of triplet repeats in the pathogenesis of the disease. We have developed a strategy to demonstrate the effect in the 3'-untranslated end of the (CTG) repeats in myotonic dystrophy gene (MtPK) and found that repeat expansion (CTG46) causes a slight decrease in the translation rate of MtPK cDNA which correlates with the finding in patients with myotonic dystrophy of a low amount of MtPK protein in muscle. These results provide an important clue for characterizing the genetic abnormality in other triplet-repeat diseases.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Base Sequence
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Cell Line
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Chlorocebus aethiops
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Cloning, Molecular
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DNA, Complementary / isolation & purification
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Electrophoresis, Agar Gel
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Escherichia coli
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Genetic Diseases, Inborn / genetics*
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Humans
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Molecular Sequence Data
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Mutagenesis, Site-Directed
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Myotonic Dystrophy / enzymology
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Myotonic Dystrophy / genetics*
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Myotonin-Protein Kinase
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Oligodeoxyribonucleotides / chemical synthesis
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Protein Kinases / biosynthesis
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Protein Kinases / genetics*
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Protein Serine-Threonine Kinases*
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Recombinant Proteins / biosynthesis
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Repetitive Sequences, Nucleic Acid*
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Transcription, Genetic
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Transfection
Substances
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DMPK protein, human
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DNA, Complementary
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Oligodeoxyribonucleotides
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Recombinant Proteins
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Protein Kinases
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Myotonin-Protein Kinase
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Protein Serine-Threonine Kinases