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

6 Citations (Scopus)

Abstract

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
Pages127-144
Number of pages18
DOIs
Publication statusPublished - Dec 1 2009
Externally publishedYes

Publication series

NameMethods in Molecular Biology
Volume555
ISSN (Print)1064-3745

Fingerprint

Alternative Splicing
Riboswitch
Poisons
RNA Precursors
Genetic Association Studies
Drug Discovery
Theophylline
RNA Interference
Introns
Genes
Exons
Protein Isoforms
Homeostasis
RNA
Gene Expression
Therapeutics
Proteins

Keywords

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

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

Cite this

Dery, K. J., Gusti, V., Gaur, S., Shively, J. E., Yen, Y., & Gaur, R. K. (2009). Alternative splicing as a therapeutic target for human diseases. In J. Reidhaar-Olson, & C. Rondinone (Eds.), Therapeutic Applications of RNAi: Methods and Protocols (pp. 127-144). (Methods in Molecular Biology; Vol. 555). https://doi.org/10.1007/978-1-60327-295-7_10

Alternative splicing as a therapeutic target for human diseases. / Dery, Kenneth J.; Gusti, Veronica; Gaur, Shikha; Shively, John E.; Yen, Yun; Gaur, Rajesh K.

Therapeutic Applications of RNAi: Methods and Protocols. ed. / John Reidhaar-Olson; Cristina Rondinone. 2009. p. 127-144 (Methods in Molecular Biology; Vol. 555).

Research output: Chapter in Book/Report/Conference proceedingChapter

Dery, KJ, Gusti, V, Gaur, S, Shively, JE, Yen, Y & Gaur, RK 2009, Alternative splicing as a therapeutic target for human diseases. in J Reidhaar-Olson & C Rondinone (eds), Therapeutic Applications of RNAi: Methods and Protocols. Methods in Molecular Biology, vol. 555, pp. 127-144. https://doi.org/10.1007/978-1-60327-295-7_10
Dery KJ, Gusti V, Gaur S, Shively JE, Yen Y, Gaur RK. Alternative splicing as a therapeutic target for human diseases. In Reidhaar-Olson J, Rondinone C, editors, Therapeutic Applications of RNAi: Methods and Protocols. 2009. p. 127-144. (Methods in Molecular Biology). https://doi.org/10.1007/978-1-60327-295-7_10
Dery, Kenneth J. ; Gusti, Veronica ; Gaur, Shikha ; Shively, John E. ; Yen, Yun ; Gaur, Rajesh K. / Alternative splicing as a therapeutic target for human diseases. Therapeutic Applications of RNAi: Methods and Protocols. editor / John Reidhaar-Olson ; Cristina Rondinone. 2009. pp. 127-144 (Methods in Molecular Biology).
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