10. Splicing and Disease

  1. Prof. Dr. Stefan Stamm2,
  2. Prof. Dr. Christopher W. J. Smith3 and
  3. Prof. Dr. Reinhard Lührmann4
  1. Emanuele Buratti and
  2. Francisco E. Baralle

Published Online: 2 FEB 2012

DOI: 10.1002/9783527636778.ch10

Alternative pre-mRNA Splicing: Theory and Protocols

Alternative pre-mRNA Splicing: Theory and Protocols

How to Cite

Buratti, E. and Baralle, F. E. (2012) Splicing and Disease, 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.ch10

Editor Information

  1. 2

    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. 3

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

  3. 4

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

Author Information

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

Publication History

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

ISBN Information

Print ISBN: 9783527326068

Online ISBN: 9783527636778



  • Splicing;
  • mutation;
  • RNA;
  • 5′ splice site;
  • 3′ splice site;
  • bioinformatics


• An increasing number of diseases are now recognized to be caused by the selection of “wrong” splice sites.

• The selection of “wrong” splice sites can be caused by mutation in the DNA, or by changes in trans-acting factors.

• Aberrant splicing is best studied in monogenetic diseases, but is increasingly found in complex diseases.