Exon Skipping

Methods and Protocols

  • Annemieke Aartsma-Rus

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

Table of contents

  1. Front Matter
    Pages i-xi
  2. Mutations

    1. Front Matter
      Pages 1-1
    2. Umasuthan Srirangalingam, Shern L. Chew
      Pages 3-16
    3. F. O. Desmet, C. Béroud
      Pages 17-35
    4. Lourdes R. Desviat, Belén Pérez, Magdalena Ugarte
      Pages 37-47
    5. Emanuele Buratti, Diana Baralle
      Pages 65-76
  3. Tools to Induce Exon Skipping

    1. Front Matter
      Pages 77-77
    2. Willeke M. C. van Roon-Mom, Annemieke Aartsma-Rus
      Pages 79-96
    3. Annemieke Aartsma-Rus
      Pages 97-116
    4. Annemieke Aartsma-Rus
      Pages 117-129
    5. Yasuhiro Takeshima, Mariko Yagi, Masafumi Matsuo
      Pages 131-141
    6. Linda J. Popplewell, Alberto Malerba, George Dickson
      Pages 143-167
    7. Alessandra Ferlini, Paola Rimessi
      Pages 189-199
    8. A. Seda Yilmaz-Elis, J. Sjef Verbeek
      Pages 209-220
    9. Sandrina Turczynski, Matthias Titeux, Nathalie Pironon, Alain Hovnanian
      Pages 221-238
    10. Aurélie Goyenvalle
      Pages 259-271

About this book

Introduction

“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.

Keywords

Exon Skipping RNA in vitro splicing in vivo tests mRNA multiple genes mutations next generation sequencing real polymorphisms splicing

Editors and affiliations

  • Annemieke Aartsma-Rus
    • 1
  1. 1.Dept. Human & Clinical GeneticsLeiden University Medical CenterLeidenNetherlands

Bibliographic information

  • DOI https://doi.org/10.1007/978-1-61779-767-5
  • Copyright Information Springer Science+Business Media, LLC 2012
  • Publisher Name Humana Press
  • eBook Packages Springer Protocols
  • Print ISBN 978-1-61779-766-8
  • Online ISBN 978-1-61779-767-5
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • About this book
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