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Exon Skipping

Methods and Protocols

  • Book
  • © 2012

Overview

Editors:
  1. Annemieke Aartsma-Rus

    1. Dept. Human & Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands

    View editor publications

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  • Provides an overview of the exon skipping field
  • Provides step-by-step detail essential for reproducible results
  • Contains key notes and implementation advice from the experts
  • Includes supplementary material: sn.pub/extras

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

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About this book

“Next generation” sequencing techniques allow for more detailed analysis of exons and introns in multiple genes at the same time. This will reveal many mutations that potentially lead to exon skipping. To functionally test these a lot can be achieved with a limited set of protocols, while for the intentional induction of exon skipping different tools and target genes are involved and the translational path from in vitro splicing to in vivo tests in animal models requiring a more extensive set of protocols. Exon Skipping: Methods and Protocols provides scientist with a comprehensive guide to many of the methods and techniques used for exon skipping, such as methods on how to discriminate “real polymorphisms” from mutations that affect splicing. Written in the highly successful Methods in Molecular Biology™ series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls.

Authoritative and practical Exon Skipping: Methods and Protocols seeks to aid scientists in the continuing study of exon skipping.

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Keywords

Table of contents (27 protocols)

  1. Front Matter

    Pages i-xi
    Download chapter PDF

  2. Mutations

    1. Front Matter

      Pages 1-1
      Download chapter PDF

    2. DNA Diagnostics and Exon Skipping

      • Umasuthan Srirangalingam, Shern L. Chew
      Pages 3-16

    3. Bioinformatics and Mutations Leading to Exon Skipping

      • F. O. Desmet, C. Béroud
      Pages 17-35

    4. Minigenes to Confirm Exon Skipping Mutations

      • Lourdes R. Desviat, Belén Pérez, Magdalena Ugarte
      Pages 37-47

    5. Analysis and Interpretation of RNA Splicing Alterations in Genes Involved in Genetic Disorders

      • Maaike P. G. Vreeswijk, Heleen M. van der Klift
      Pages 49-63

    6. Exon Skipping Mutations in Neurofibromatosis

      • Emanuele Buratti, Diana Baralle
      Pages 65-76

  3. Tools to Induce Exon Skipping

    1. Front Matter

      Pages 77-77
      Download chapter PDF

    2. Overview on Applications of Antisense-Mediated Exon Skipping

      • Willeke M. C. van Roon-Mom, Annemieke Aartsma-Rus
      Pages 79-96

    3. Overview on DMD Exon Skipping

      • Annemieke Aartsma-Rus
      Pages 97-116

    4. Overview on AON Design

      • Annemieke Aartsma-Rus
      Pages 117-129

    5. Optimizing RNA/ENA Chimeric Antisense Oligonucleotides Using In Vitro Splicing

      • Yasuhiro Takeshima, Mariko Yagi, Masafumi Matsuo
      Pages 131-141

    6. Optimizing Antisense Oligonucleotides Using Phosphorodiamidate Morpholino Oligomers

      • Linda J. Popplewell, Alberto Malerba, George Dickson
      Pages 143-167

    7. Optimizing Splice-Switching Oligomer Sequences Using 2′-O-Methyl Phosphorothioate Chemistry

      • Carl Adkin, Sue Fletcher, Steve D. Wilton
      Pages 169-188

    8. Exon Skipping Quantification by Real-Time PCR

      • Alessandra Ferlini, Paola Rimessi
      Pages 189-199

    9. Antisense-Mediated Exon Skipping to Shift Alternative Splicing to Treat Cancer

      • Jing Wan
      Pages 201-208

    10. Antisense-Mediated Exon Skipping to Generate Soluble Receptors

      • A. Seda Yilmaz-Elis, J. Sjef Verbeek
      Pages 209-220

    11. Antisense-Mediated Exon Skipping to Reframe Transcripts

      • Sandrina Turczynski, Matthias Titeux, Nathalie Pironon, Alain Hovnanian
      Pages 221-238

    12. U1 snRNA as an Effective Vector for Stable Expression of Antisense Molecules and for the Inhibition of the Splicing Reaction

      • Julie Martone, Fernanda Gabriella De Angelis, Irene Bozzoni
      Pages 239-257

    13. Engineering U7snRNA Gene to Reframe Transcripts

      • Aurélie Goyenvalle
      Pages 259-271
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Editors and Affiliations

  • Dept. Human & Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands

    Annemieke Aartsma-Rus

Bibliographic Information

  • Book Title: Exon Skipping

  • Book Subtitle: Methods and Protocols

  • Editors: Annemieke Aartsma-Rus

  • Series Title: Methods in Molecular Biology

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

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Springer Science+Business Media,LLC 2012

  • Hardcover ISBN: 978-1-61779-766-8Published: 28 March 2012

  • Softcover ISBN: 978-1-4939-6206-8Published: 23 August 2016

  • eBook ISBN: 978-1-61779-767-5Published: 28 March 2012

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: XI, 440

  • Number of Illustrations: 62 b/w illustrations, 8 illustrations in colour

  • Topics: Human Genetics

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