Abstract
The mutation underlying myotonic dystrophy (DM) has been identified as an expansion of a polymorphic CTG-repeat in a gene encoding protein kinase activity. Brain and heart transcripts of the DM-kinase (DMR-B15) gene are subject to alternative RNA splicing in both human and mouse. The unstable [CTG]5-30 motif is found uniquely in humans, although the flanking nucleotides are also present in mouse. Characterization of the DM region of both species reveals another active gene (DMR-N9) in close proximity to the kinase gene. DMR-N9 transcripts, mainly expressed in brain and testis, possess a single, large open reading frame, but the function of its protein product is unknown. Clinical manifestation of DM may be caused by the expanded CTG-repeat compromising the (alternative) expression of DM-kinase or DMR-N9 proteins.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
MeSH terms
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Alternative Splicing*
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Amino Acid Sequence
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Animals
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Base Sequence
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Brain / enzymology
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DNA / genetics
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Humans
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Isoenzymes / genetics*
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Male
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Mice
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Molecular Sequence Data
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Myocardium / enzymology
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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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Nuclear Proteins
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Oligodeoxyribonucleotides
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Open Reading Frames
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Polymorphism, Genetic*
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Protein Kinases / genetics*
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Protein Serine-Threonine Kinases / genetics*
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Proteins / genetics*
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RNA, Messenger / genetics*
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Repetitive Sequences, Nucleic Acid*
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Testis / enzymology
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Transcription, Genetic
Substances
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DMPK protein, human
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DMPK protein, mouse
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DMWD protein, human
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Dm9 protein, mouse
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Isoenzymes
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Nuclear Proteins
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Oligodeoxyribonucleotides
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Proteins
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RNA, Messenger
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DNA
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Protein Kinases
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Myotonin-Protein Kinase
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Protein Serine-Threonine Kinases
Associated data
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GENBANK/UNKNOWN
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PIR/UNKNOWN
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SWISSPROT/UNKNOWN