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Exonic splicing enhancers and exonic splicing silencers

Part 4. Bioinformatics

4.2. Gene Finding and Gene Structure

Short Specialist Review

  1. Stephen M. Mount

Published Online: 15 JUL 2005

DOI: 10.1002/047001153X.g402314

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Mount, S. M. 2005. Exonic splicing enhancers and exonic splicing silencers. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 4:4.2:24.

Author Information

  1. University of Maryland, College Park, MD, USA

Publication History

  1. Published Online: 15 JUL 2005

Abstract

Splicing signals that promote splicing and lie within exons are known as exonic splicing enhancers (ESEs), while signals within exons that repress splicing are known as exonic splicing silencers (ESSs). Both ESEs and ESSs act in conjunction with more highly conserved splicing signals at the two splice sites. ESEs are bound and activated by splicing factors known as SR proteins that are thought to act by recruiting core splicing factors such as the U1 snRNP or U2AF to appropriate splice sites. The mechanism of action of ESSs is less well understood and may be more variable. A variety of methods, both experimental and computational, have been used successfully to identify functional ESEs and ESSs; mutations in these splicing signals are increasingly recognized as responsible for human genetic disease.

Keywords:

  • ESE;
  • exonic splicing enhancer;
  • ESS;
  • exonic splicing silencer;
  • pre-mRNA splicing;
  • SR proteins