Splicing in disease: disruption of the splicing code and the decoding machinery View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-10

AUTHORS

Guey-Shin Wang, Thomas A. Cooper

ABSTRACT

Human genes contain a dense array of diverse cis-acting elements that make up a code required for the expression of correctly spliced mRNAs. Alternative splicing generates a highly dynamic human proteome through networks of coordinated splicing events. Cis- and trans-acting mutations that disrupt the splicing code or the machinery required for splicing and its regulation have roles in various diseases, and recent studies have provided new insights into the mechanisms by which these effects occur. An unexpectedly large fraction of exonic mutations exhibit a primary pathogenic effect on splicing. Furthermore, normal genetic variation significantly contributes to disease severity and susceptibility by affecting splicing efficiency. More... »

PAGES

749-761

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nrg2164

    DOI

    http://dx.doi.org/10.1038/nrg2164

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1052057400

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/17726481


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