Alternative Splicing as a Source of Phenotypic Differences Between Species: Protein-Level Mechanisms

  • Jordi Morata
  • Casandra Riera
  • Xavier de la Cruz


Recently, an increasing amount of both experimental and computational evidence is pointing to an important role of alternative splicing as a source of phenotypic differences between organisms. However, the mechanisms by which alternative splicing can play this role are still unclear. In this chapter, after reviewing the evidence linking AS and phenotypic diversity, we focus on the study of these mechanisms, at the protein level. First, we describe their sequence-level properties and their overall conservation between species. We then illustrate how these sequence changes can be used to modulate protein function, using our data on the impact of AS on epigenetic regulators and transcription factors. Finally, we study the conservation of AS events between human and mouse, and unveil the existence of putative cases of functional convergence, where AS events may have the same function in both species, in spite of differences in their associated sequence changes.


Alternative Splice Cystic Fibrosis Transmembrane Conductance Regulator Epigenetic Regulator Phenotypic Difference Sequence Change 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Jordi Morata
    • 1
  • Casandra Riera
    • 1
  • Xavier de la Cruz
    • 1
    • 2
  1. 1.IBMB-CSICBarcelonaSpain
  2. 2.ICREABarcelonaSpain

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