Deconstructing myotonic dystrophy.
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.
Tapscott
S J
SJ
Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA. stapscot@fhcrc.org
D020413:3' Untranslated Regions; D000818:Animals; D020132:Anticipation, Genetic; D002386:Cataract / Q000209:etiology; D002888:Chromosomes, Human, Pair 19; D002893:Chromosomes, Human, Pair 3; D004195:Disease Models, Animal; D005786:Gene Expression Regulation; D006329:Heart Conduction System / Q000503:physiopathology; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D065636:Myotonin-Protein Kinase; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism; D012323:RNA Processing, Post-Transcriptional; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000378:metabolism; D019680:Trinucleotide Repeat Expansion
D020413:3' Untranslated Regions; C585517:DMPK protein, human; C585516:DMPK protein, mouse; D018398:Homeodomain Proteins; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; C106687:SIX5 protein, human; C486344:Six5 protein, mouse; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases