10. Splicing and Disease
- Prof. Dr. Stefan Stamm2,
- Prof. Dr. Christopher W. J. Smith3 and
- Prof. Dr. Reinhard Lührmann4
Published Online: 2 FEB 2012
Copyright © 2012 Wiley-VCH Verlag GmbH & Co. KGaA
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
University of Kentucky, Department of Molecular and Cellular Biochemistry, B278 Biomedical/Biological Sciences Research Building, 741 South Limestone Street, Lexington, KY 40536-0298, USA
University of Cambridge, Department of Biochemistry, Tennis Court Road, Cambridge CB2 1QW, United Kingdom
Max Planck Institute for Biophysical Chemistry, Department of Cellular Biochemistry, Am Fassberg 11, 37077 Göttingen, Germany
- Published Online: 2 FEB 2012
- Published Print: 11 JAN 2012
Print ISBN: 9783527326068
Online ISBN: 9783527636778
- 5′ splice site;
- 3′ splice site;
• 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.