Mechanisms of RNA-mediated Disease*
- Department of Molecular Genetics and Microbiology and the Genetics Institute, University of Florida College of Medicine, Gainesville, Florida 32610-3610
- 1 To whom correspondence should be addressed. E-mail: mswanson{at}ufl.edu.
Abstract
Recent mapping of functional sequence elements in the human genome has led to the realization that transcription is pervasive and that noncoding RNAs compose a significant portion of the transcriptome. Some dominantly inherited neurological disorders are associated with the expansion of microsatellite repeats in noncoding regions that result in the synthesis of pathogenic RNAs. Here, we review RNA gain-of-function mechanisms underlying three of these microsatellite expansion disorders to illustrate how some mutant RNAs cause disease.
Footnotes
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↵2 The abbreviations used are: DM, myotonic dystrophy; FXTAS, fragile X-associated tremor/ataxia syndrome; SCA, spinocerebellar ataxia; ncRNA, noncoding RNA; UTR, untranslated region; C(C)UGexp, CUG and CCUG expansion; rCGGexp, CGG expansion; HSALR, HSA long repeat; HSASR, HSA short repeat; GFP, green fluorescent protein; EGFP, enhanced GFP; dsRNA, double-stranded RNA; hnRNP, heterogeneous nuclear ribonucleoprotein; RNAi, RNA interference; miRNA, microRNA; siRNA, small interfering RNA; HSE, hypersensitive site enhancer.
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↵* This is the third of five articles in the Unstable Nucleotide Repeat Minireview Series. This minireview will be reprinted in the 2009 Minireview Compendium, which will be available in January, 2010.
- The American Society for Biochemistry and Molecular Biology, Inc.
