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Aberrant splicing in neurological diseases

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Splicing of precursor messenger RNA (pre‐mRNA) removes the intervening sequences (introns) and joins the expressed regions (exons) in the nucleus, before an intron‐containing eukaryotic mRNA transcript can be exported and translated into proteins in the cytoplasm. While some sequences are always included or excluded (constitutive splicing), others can be selectively used (alternative splicing) in this process. Particularly by alternative splicing, up to tens of thousands of variant transcripts can be produced from a single gene, which contributes greatly to the proteomic diversity for such complex cellular functions as ‘wiring’ neurons in the nervous system. Disruption of this process leads to aberrant splicing, which accounts for the defects of up to 50% of mutations that cause certain human genetic diseases. In this review, we describe the different mechanisms of aberrant splicing that cause or have been associated with neurological diseases. WIREs RNA 2013, 4:631–649. doi: 10.1002/wrna.1184 This article is categorized under: RNA Processing > Splicing Regulation/Alternative Splicing RNA in Disease and Development > RNA in Disease RNA in Disease and Development > RNA in Development

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Mechanisms of aberrant splicing by disruption of cis‐acting elements in neurological diseases. Mechanisms through cis‐acting (red) RNA elements are diagramed above a representative three exon region of a pre‐mRNA transcript in the enlarged soma (dotted line box at the upper right corner) of a neuron. Individual representative target genes disrupted in corresponding neurological disorders (in brackets) in this review are listed in the text box. The numbers above each disrupted element correspond to that in the text box. The ‘1’ above the aberrant splicing pathways (dotted lines) indicates the occurrence of all types of aberrant splicing observed in the NF1 gene/disease. X: disruption by mutation.
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Mechanisms of aberrant splicing by disruption of trans‐acting factors in neurological diseases. Mechanisms for the disruption of the splicing of minor (U11/U12) and major (U1/U2) spliceosomal introns are diagramed in the enlarged soma (dotted line box at the upper right corner) of a neuron. Individual target non‐coding RNA/factors disrupted in the corresponding neurological disorders (numbered in brackets) are listed in the text box on top of the neuron or glial cell (not to scale). The numbers around each disrupted non‐coding RNA/factor correspond to that in the text box. X: disruption by change in expression level or localization. See text of each example for details.
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RNA in Disease and Development > RNA in Development
RNA Processing > Splicing Regulation/Alternative Splicing
RNA in Disease and Development > RNA in Disease

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