Alternative Splicing and Disease

  • Philippe Jeanteur

Part of the Progress in Molecular and Subcellular Biology book series (PMSB, volume 44)

Table of contents

  1. Front Matter
    Pages i-xii
  2. Laurent Bracco, Emeline Throo, Olivier Cochet, Richard Einstein, Florence Maurier
    Pages 1-25
  3. Tatyana Novoyatleva, Yesheng Tang, Ilona Rafalska, Stefan Stamm
    Pages 27-46
  4. Mariano A. Garcia-Blanco
    Pages 47-64
  5. Johann Soret, Mathieu Gabut, Jamal Tazi
    Pages 65-87
  6. Brunhilde Wirth, Lars Brichta, Eric Hahnen
    Pages 109-132
  7. N. Muge Kuyumcu-Martinez, Thomas A. Cooper
    Pages 133-159
  8. Annachiara De Sandre-Giovannoli, Nicolas Lévy
    Pages 199-232
  9. Malka Nissim-Rafinia, Batsheva Kerem
    Pages 233-254
  10. Back Matter
    Pages 255-257

About this book


Splicing of primary RNA transcript, i.e. removal of introns and joining of exons to produce mature mRNAs competent for translation into proteins, is a quasi-systematic step of gene expression in higher organisms. However, this process is not unequivocal but can follow alternate pathways. Alternative splicing of a given transcript can therefore yield several distinct mRNAs encoding as many different proteins. Its full biological significance has not been appreciated until it was recognized that alternative splicing is so general as to affect about 75% of all human genes. Therefore, alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences.


Alternative Splicing Human Genetic Diseases Mutation RNA Spliceosome gene expression genes proteins translation

Editors and affiliations

  • Philippe Jeanteur
    • 1
  1. 1.Institute of Molecular Genetics of MontpellierFrance

Bibliographic information