Alternative splicing as a therapeutic target for human diseases

Kenneth J. Dery, Veronica Gusti, Shikha Gaur, John E. Shively, Yun Yen, Rajesh K. Gaur

Research output: Chapter in Book/Report/Conference proceedingChapter

11 Citations (Scopus)


The majority of eukaryotic genes undergo alternative splicing, an evolutionarily conserved phenomenon, to generate functionally diverse protein isoforms from a single transcript. The fact that defective pre-mRNA splicing can generate non-functional and often toxic proteins with catastrophic effects, accurate removal of introns and joining of exons is vital for cell homeostasis. Thus, molecular tools that could either silence a disease-causing gene or regulate its expression in trans will find many therapeutic applications. Here we present two RNA-based approaches, namely RNAi and theophylline-responsive riboswitch that can regulate gene expression by loss-of-function and modulation of splicing, respectively. These strategies are likely to continue to play an integral role in studying gene function and drug discovery.

Original languageEnglish
Title of host publicationTherapeutic Applications of RNAi
Subtitle of host publicationMethods and Protocols
EditorsJohn Reidhaar-Olson, Cristina Rondinone
Number of pages18
Publication statusPublished - Dec 1 2009
Externally publishedYes

Publication series

NameMethods in Molecular Biology
ISSN (Print)1064-3745


  • Alternative splicing
  • RNAi
  • spliceosome
  • theophylline-responsive riboswitch

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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