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Bioinformatics and Mutations Leading to Exon Skipping

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Exon Skipping

Part of the book series: Methods in Molecular Biology ((MIMB,volume 867))

Abstract

Our knowledge about human genes and the consequences of mutations leading to human genetic diseases has drastically improved over the last few years. It has been recognized that many mutations are indeed pathogenic because they impact the mRNA rather than the protein itself. With our better understanding of the very complex mechanism of splicing, various bioinformatics tools have been developed. They are now frequently used not only to search for sequence motifs corresponding to splicing signals (splice sites, branch points, ESE, and ESS) but also to predict the impact of mutations on these signals. We now need to address the impact of mutations that affect the splicing process, as their consequences could vary from the activation of cryptic signals to the skipping of one or multiple exons. Despite the major developments of the bioinformatics field coupled to experimental data generated on splicing, it is today still not possible to efficiently predict the consequences of mutations impacting splicing signals, especially to predict if they will lead to exon skipping or to cryptic splice site activation.

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Authors and Affiliations

  1. INSERM U1052 CNRS 5286, Lyon, France

    F. O. Desmet

  2. UMR_S 910, INSERM, Faculté de Médecine de la Timone, Marseille, France

    C. Béroud

  3. UMR_S 910, Université de la Méditerranée, Faculté de Médecine de la Timone, Marseille, France

    C. Béroud

  4. AP-HM, Département de Génétique Médicale, Hôpital d’enfants Timone, Marseille, France

    C. Béroud

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  1. F. O. Desmet
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  2. C. Béroud
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Correspondence to C. Béroud .

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Editors and Affiliations

  1. Dept. Human & Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, Leiden, 2333 ZC, Netherlands

    Annemieke Aartsma-Rus

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Desmet, F.O., Béroud, C. (2012). Bioinformatics and Mutations Leading to Exon Skipping. In: Aartsma-Rus, A. (eds) Exon Skipping. Methods in Molecular Biology, vol 867. Humana Press. https://doi.org/10.1007/978-1-61779-767-5_2

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  • DOI: https://doi.org/10.1007/978-1-61779-767-5_2

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