title: Effect of artificial (CTG) repeat expansion on the expression of myotonin protein kinase (MtPK) in COS-1 cells.
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.
authors.affiliation: Institute of Molecular and Cellular Biosciences, University of Tokyo, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Sasagawa
authors.forename: N
authors.initials: N
authors.lastname: Saitoh
authors.forename: M
authors.initials: M
authors.lastname: Shimokawa
authors.forename: H
authors.initials: H
authors.lastname: Sorimachi
authors.forename: K
authors.initials: K
authors.lastname: Maruyama
authors.forename: K
authors.initials: K
authors.lastname: Arahata
authors.forename: S
authors.initials: S
authors.lastname: Isiura
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
mesh_terms: D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D002522:Chlorocebus aethiops; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000302:isolation & purification; D004587:Electrophoresis, Agar Gel; D004926:Escherichia coli; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D009223:Myotonic Dystrophy / Q000201:enzymology / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D009838:Oligodeoxyribonucleotides / Q000138:chemical synthesis; D011494:Protein Kinases / Q000096:biosynthesis / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D011994:Recombinant Proteins / Q000096:biosynthesis; D012091:Repetitive Sequences, Nucleic Acid; D014158:Transcription, Genetic; D014162:Transfection
chemical_list: C585517:DMPK protein, human; D018076:DNA, Complementary; D009838:Oligodeoxyribonucleotides; D011994:Recombinant Proteins; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases