April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Knockdown of Bardet-Biedl Syndrome Gene BBS9 Leads to Primary Cilia Defects and Retinal Degeneration in the Zebrafish
Author Affiliations & Notes
  • Shobi Veleri
    Neurobiol-Neurodegen & Repair Lab, NEI/NIH, Bethesda, Maryland
  • Kevin Bishop
    National Human Genome Research Institute, Bethesda, Maryland
  • Milton A. English
    Neurobiol-Neurodegen & Repair Lab, NEI/NIH, Bethesda, Maryland
    National Human Genome Research Institute, Bethesda, Maryland
  • Trevor J. Foskett
    Neurobiol-Neurodegen & Repair Lab, NEI/NIH, Bethesda, Maryland
  • Ajay Chitnis
    National Institute of Child Health and Human Development, NIH, Bethesda, MD, Bethesda, Maryland
  • Raman Sood
    National Human Genome Research Institute, Bethesda, Maryland
  • Paul Liu
    National Human Genome Research Institute, Bethesda, Maryland
  • Anand Swaroop
    Neurobiol-Neurodegen & Repair Lab, NEI/NIH, Bethesda, Maryland
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 1359. doi:
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      Shobi Veleri, Kevin Bishop, Milton A. English, Trevor J. Foskett, Ajay Chitnis, Raman Sood, Paul Liu, Anand Swaroop; Knockdown of Bardet-Biedl Syndrome Gene BBS9 Leads to Primary Cilia Defects and Retinal Degeneration in the Zebrafish. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1359.

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

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Abstract

Purpose: : To investigate the role of BBS9 in primary cilia and retinal development in the zebrafish. Bardet-Biedl Syndrome (BBS; MIM#209900) is a genetically heterogeneous disorder with pleiotropic phenotypes that include retinopathy, mental retardation, obesity, polydactyly, and renal abnormalities. Of the 15 genes identified so far, seven encode core proteins that form a stable complex called BBSome, which is implicated in cilia biogenesis. Though BBS9 is a component of BBSome complex, it’s function has not yet been delineated.

Methods: : Knockdown of BBS9 was done using either shRNAi in IMCD3 cells or anti-sense morpholino in the zebrafish. Rescue experiments were done in zebrafish using human wild type or missense mutant mRNA.

Results: : Knockdown of BBS9 in mouse IMCD3 cells resulted in absence of cilia. In the zebrafish, anti-sense morpholinos against bbs9 led to developmental abnormalities in the eye, consistent with the phenotypes observed in syndromic ciliopathies. Knockdown of bbs9 also caused reduced number and length of cilia in Kupffer’s vesicle. Furthermore, an orthologous human BBS9 mRNA but not a missense mutant rescued the bbs9 morphant phenotype, confirming the evolutionary conservation between zebrafish and human.

Conclusions: : Our data demonstrate a key role for BBS9 in photoreceptor development of zebrafish due to its functions associated with primary cilia.

Keywords: retinal degenerations: hereditary • retinal development • retinal degenerations: cell biology 
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