11. From Bedside to Bench: How to Analyze a Splicing Mutation

  1. Prof. Dr. Stefan Stamm3,
  2. Prof. Dr. Christopher W. J. Smith4 and
  3. Prof. Dr. Reinhard Lührmann5
  1. Marco Baralle1 and
  2. Diana Baralle2

Published Online: 2 FEB 2012

DOI: 10.1002/9783527636778.ch11

Alternative pre-mRNA Splicing: Theory and Protocols

Alternative pre-mRNA Splicing: Theory and Protocols

How to Cite

Baralle, M. and Baralle, D. (2012) From Bedside to Bench: How to Analyze a Splicing Mutation, in Alternative pre-mRNA Splicing: Theory and Protocols (eds S. Stamm, C. W. J. Smith and R. Lührmann), Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany. doi: 10.1002/9783527636778.ch11

Editor Information

  1. 3

    University of Kentucky, Department of Molecular and Cellular Biochemistry, B278 Biomedical/Biological Sciences Research Building, 741 South Limestone Street, Lexington, KY 40536-0298, USA

  2. 4

    University of Cambridge, Department of Biochemistry, Tennis Court Road, Cambridge CB2 1QW, United Kingdom

  3. 5

    Max Planck Institute for Biophysical Chemistry, Department of Cellular Biochemistry, Am Fassberg 11, 37077 Göttingen, Germany

Author Information

  1. 1

    International Center of Genetic Engineering and Biotechnology (ICGEB), Department of Molecular Pathology, Padriciano 99, 34012 Trieste, Italy

  2. 2

    University of Southampton, Human Genetics Division, Duthie Building (Mailpoint 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK

Publication History

  1. Published Online: 2 FEB 2012
  2. Published Print: 11 JAN 2012

ISBN Information

Print ISBN: 9783527326068

Online ISBN: 9783527636778



  • Minigene;
  • splicing assay;
  • aberrant splicing;
  • mutation diagnosis;
  • splicing mutation databases


• Clinical diagnosis can identify mutated candidate genes, which can exhibit altered pre-mRNA splicing patterns.

• The identification of sequence variants involved in splicing helps in an understanding of splicing regulatory elements, as well as disease etiology.

• Although the effect of mutations can be predicted bioinformatically, such predictions are fairly inaccurate and need to be tested experimentally by analyzing RNA expression, or by reporter constructs.