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Using Mini-genes to Identify Factors That Modulate Alternative Splicing

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Exon Skipping

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

Abstract

Many genetic mutations result in the disruption of (alternative) splicing. Prime examples are the SMN1 and SMN2 genes: a silent mutation in SMN2 leads to the skipping of the constitutive exon 7 in the majority of SMN2 transcripts, while this exon is generally included in SMN1 transcripts. Lack of SMN is embryonic lethal and loss of SMN1 genes leads to a severe decrease in SMN protein and is associated with spinal muscular atrophy. There are proteins and drugs that can chance alternative splicing events, e.g. increase the inclusion of exon 7 in SMN2. This chapter describes mini-genes and methods that can be employed to screen for candidate proteins and drugs.

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Authors and Affiliations

  1. Clinical Neurobiology, Peninsula Medical School, University of Exeter, Exeter, UK

    Robert Morse, Adrian G. Todd & Philip J. Young

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  1. Robert Morse
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  2. Adrian G. Todd
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  3. Philip J. Young
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Corresponding author

Correspondence to Philip J. Young .

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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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Morse, R., Todd, A.G., Young, P.J. (2012). Using Mini-genes to Identify Factors That Modulate Alternative Splicing. 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_22

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  • DOI: https://doi.org/10.1007/978-1-61779-767-5_22

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  • Publisher Name: Humana Press

  • Print ISBN: 978-1-61779-766-8

  • Online ISBN: 978-1-61779-767-5

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