Alternative splicing and disease

Biochim Biophys Acta. 2009 Jan;1792(1):14-26. doi: 10.1016/j.bbadis.2008.09.017. Epub 2008 Oct 17.


Almost all protein-coding genes are spliced and their majority is alternatively spliced. Alternative splicing is a key element in eukaryotic gene expression that increases the coding capacity of the human genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease. A fine-tuned balance of factors regulates splice site selection. Here, we discuss well-studied examples that show how a disturbance of this balance can cause human disease. The rapidly emerging knowledge of splicing regulation now allows the development of treatment options.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alternative Splicing*
  • Animals
  • Base Sequence
  • Disease / genetics*
  • Dysautonomia, Familial / genetics
  • Exons
  • Female
  • Hyperlipoproteinemia Type II / genetics
  • Male
  • Models, Genetic
  • Molecular Sequence Data
  • Muscular Atrophy, Spinal / genetics
  • Neoplasms / genetics
  • Nucleic Acid Conformation
  • Progeria / genetics
  • RNA Precursors / chemistry
  • RNA Precursors / genetics
  • RNA Precursors / metabolism
  • RNA, Small Nucleolar / genetics
  • RNA, Small Nucleolar / metabolism
  • Signal Transduction
  • Spliceosomes / metabolism
  • Tauopathies / genetics


  • RNA Precursors
  • RNA, Small Nucleolar