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Transcriptome Analyses to Investigate the Pathogenesis of RNA Splicing Factor Retinitis Pigmentosa

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Retinal Degenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 723))

Abstract

RNA-splicing factor retinitis pigmentosa (RP) is caused by mutations in components of the spliceosome. RP is an inherited blinding disorder characterized by late-onset retinal degeneration. Currently, mutations in five genes that encode components of the spliceosome have been identified to cause autosomal dominant RP. These are the pre-mRNA processing factors 3, 8, and 31 (PRPF3, 8, and 31), RP9, and SNRNP200. It is unknown how mutations in these ubiquitously expressed genes lead to retina-specific disease. It is hypothesized that mutations in these genes lead to aberrant splicing of pre-mRNA, which in turn causes retinal degeneration. To fully investigate this hypothesis requires the ability to accurately interrogate the transcriptomes of the affected tissue. The recent development of next-generation sequencing-based RNA sequencing (RNA-seq) makes these types of studies possible. This chapter will focus on the RNA splicing factor forms of RP and the application of RNA-seq to study the pathogenesis of these diseases.

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Acknowledgments

This work has been supported by the Ruth-Kirschstein National Research Service Award, Foundation Fighting Blindness, Penn Genome Frontiers Institute, Rosanne Silbermann Foundation, F.M. Kirby Foundation, and Research to Prevent Blindness.

Author information

Authors and Affiliations

  1. Ocular Genomics Institute, Berman Gund Laboratory, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, 243 Charles St., Boston, MA, 02114, USA

    Michael H. Farkas & Eric A. Pierce

  2. Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Greg R. Grant

Authors
  1. Michael H. Farkas
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  2. Greg R. Grant
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  3. Eric A. Pierce
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Corresponding author

Correspondence to Eric A. Pierce .

Editor information

Editors and Affiliations

  1. University of California, San Francisco, n/a, San Francisco, 94143, USA

    Matthew M. LaVail

  2. University of Oklahoma Health Sciences C, Oklahoma City, 73104, USA

    John D. Ash

  3. Health Science Center, Dean A. McGee Eye Inst., University of Oklahoma, Stanton L. Young Blvd. 608, OKLAHOMA CITY, 73104, Oklahoma, USA

    Robert E. Anderson

  4. Division of Ophthalmology, Cole Eye Institute at the Cleveland Clin, Euclid Ave. 9500, Cleveland, 44195, Ohio, USA

    Joe G. Hollyfield

  5. Experimental Ophthalmology, University of Zurich, ZURICH, 8091, Switzerland

    Christian Grimm

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Farkas, M.H., Grant, G.R., Pierce, E.A. (2012). Transcriptome Analyses to Investigate the Pathogenesis of RNA Splicing Factor Retinitis Pigmentosa. In: LaVail, M., Ash, J., Anderson, R., Hollyfield, J., Grimm, C. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 723. Springer, Boston, MA. https://doi.org/10.1007/978-1-4614-0631-0_65

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