Abstract
Triplet repeat diseases are disorders in which there is expansion of a repeat sequence of three nucleotides in the affected gene. Although the pathology usually results from production of a defective protein, myotonic dystrophy (DM) has proved to be a puzzle because the expanded repeats appear in a non-coding region of the affected DMPK gene. In a Perspective, Tapscott explains how findings from a new mouse model of DM (Mankodi et al.) could solve this paradox.
MeSH terms
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3' Untranslated Regions
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Animals
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Anticipation, Genetic
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Cataract / etiology
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Chromosomes, Human, Pair 19
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Chromosomes, Human, Pair 3
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Disease Models, Animal
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Gene Expression Regulation
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Heart Conduction System / physiopathology
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Homeodomain Proteins / genetics
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Humans
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Mice
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Mice, Knockout
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Myotonic Dystrophy / genetics*
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Myotonic Dystrophy / metabolism
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Myotonic Dystrophy / pathology
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Myotonic Dystrophy / physiopathology
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Myotonin-Protein Kinase
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Phenotype
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Protein Serine-Threonine Kinases / genetics*
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Protein Serine-Threonine Kinases / metabolism
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RNA Processing, Post-Transcriptional
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RNA, Messenger / genetics*
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RNA, Messenger / metabolism
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RNA-Binding Proteins / metabolism
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Trinucleotide Repeat Expansion*
Substances
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3' Untranslated Regions
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DMPK protein, human
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DMPK protein, mouse
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Homeodomain Proteins
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RNA, Messenger
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RNA-Binding Proteins
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SIX5 protein, human
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Six5 protein, mouse
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Myotonin-Protein Kinase
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Protein Serine-Threonine Kinases