Alternative splicing in multiple sclerosis and other autoimmune diseases

Irina Evsyukova, Jason A. Somarelli, Simon G. Gregory, Mariano A. Garcia-Blanco

Research output: Contribution to journalReview articlepeer-review

39 Scopus citations


Alternative splicing is a general mechanism for regulating gene expression that affects the RNA products of more than 90% of human genes. Not surprisingly, alternative splicing is observed among gene products of metazoan immune systems, which have evolved to effi ciently recognize pathogens and discriminate between "self" and "non-self", and thus need to be both diverse and flexible. In this review we focus on the specific interface between alternative splicing and autoimmune diseases, which result from a malfunctioning of the immune system and are characterized by the inappropriate reaction to self-antigens. Despite the widespread recognition of alternative splicing as one of the major regulators of gene expression, the connections between alternative splicing and autoimmunity have not been apparent. We summarize recent findings connecting splicing and autoimmune disease, and attempt to find common patterns of splicing regulation that may advance our understanding of autoimmune diseases and open new avenues for therapy.

Original languageEnglish (US)
Pages (from-to)462-473
Number of pages12
JournalRNA Biology
Issue number4
StatePublished - 2010
Externally publishedYes


  • Alternative splicing
  • Autoimmune disease
  • Interleukin 7 receptor alpha chain
  • Multiple sclerosis
  • SNP

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology


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