April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
Search for Interactors of Retinal Degeneration 3 (RD3)
Author Affiliations & Notes
  • D. S. Krauth
    Neurobiology Neurodegeneration & Repair, NEI/NIH, Bethesda, Maryland
  • J. S. Friedman
    Neurobiology Neurodegeneration & Repair, NEI/NIH, Bethesda, Maryland
  • A. E. Cuzcano
    Opthalmology and Visual Sciences, and Human Genetics, University of Michigan, Kellog Eye Center, Ann Arbor, Michigan
  • A. Swaroop
    Neurobiology Neurodegeneration & Repair, NEI/NIH, Bethesda, Maryland
  • Footnotes
    Commercial Relationships  D.S. Krauth, None; J.S. Friedman, None; A.E. Cuzcano, None; A. Swaroop, None.
  • Footnotes
    Support  NIH/NEI Intramural funding
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 4497. doi:
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    • Get Citation

      D. S. Krauth, J. S. Friedman, A. E. Cuzcano, A. Swaroop; Search for Interactors of Retinal Degeneration 3 (RD3). Invest. Ophthalmol. Vis. Sci. 2009;50(13):4497.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : We previously reported that a mutation in the rd3 gene is responsible for the rd3/rd3 phenotype in mice. We additionally observed one LCA family with a predicted splice site change in the RD3 gene (Friedman et al. 2006, Am J Hum Genet.). Here, we wish to elucidate the possible function(s) of RD3 protein by investigating its interactions.

Methods: : Yeast 2-hybrid (Y2H) screening was performed using a mouse RD3 protein bait. Interaction candidates were selected for further examination by reproducibility of independent clones as well as established Gene Ontologies (function, process, component). Co-localization studies of putative protein interaction candidates were carried out in COS-7 cells transfected with a pEGFPN1-Rd3 cDNA gene construct.

Results: : We identified four different RD3 protein interaction candidates from Y2H analysis. These include a splicing factor - arginine/serine-rich 14 (SFRS14), hepatocyte growth factor-regulated tyrosine kinase (HGS), retina and anterior neural fold homeobox (Rx), and heterogeneous nuclear ribonucleoprotein (HNRNP). Preliminary confocal microscopy of transfected COS-7 cells and co-immunoprecipitation data suggest that HNRNP interacts with RD3. Further experiments are in progress to understand the possible relevance of this interaction.

Conclusions: : Our current studies indicate that RD3 may play a role in transcriptional regulation or splicing. The elucidation of RD3’s function will hopefully provide new insights into splicing of retinal transcripts and possible mechanisms of retinal degenerative disease as splice factor mutations have previously been implicated in retinitis pigmentosa.

Keywords: degenerations/dystrophies 
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