July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
LRGUK: a new candidate for retinal ciliopathies?
Author Affiliations & Notes
  • Sybille Boehm
    Pharmacy, LMU Munich, Munich, Germany
  • Elvir Becirovic
    Pharmacy, LMU Munich, Munich, Germany
  • Andreas Giessl
    Biology, FAU Erlangen, Erlangen, Germany
  • Footnotes
    Commercial Relationships   Sybille Boehm, None; Elvir Becirovic, None; Andreas Giessl, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 3073. doi:
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      Sybille Boehm, Elvir Becirovic, Andreas Giessl; LRGUK: a new candidate for retinal ciliopathies?. Invest. Ophthalmol. Vis. Sci. 2018;59(9):3073.

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

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Purpose : Retinal degeneration due to ciliary dysfunction is commonly observed in a group of diseases called ciliopathies. The protein leucine-rich repeats and guanylate kinase domain containing (Lrguk) is a newly identified ciliary protein suggested to play a role in motile cilia of different tissues. The aim of this study was to address the retinal expression profile of Lrguk in mice.

Methods : Lrguk expression was analyzed by means of qRT-PCR and western blotting using adult wild type (wt) mice. Protein localization was examined by confocal microscopy on immunostained retinal slices of adult wt mice using a Lrguk-specific antibody. Cilia and centrosomes were labeled with acetylated and polyglutamylated tubulin antibodies.

Results : Lrguk expression could be detected at the mRNA and protein level in many ciliary tissues including the retina. In immunostaining experiments, strongest Lrguk signal was detected in the basal body complex of the photoreceptor connecting cilium. Additional Lrguk signal was detected in the inner nuclear and ganglion cell layer at the centrosomes of non-photoreceptor cells. The centrosomal localization of Lrguk was supported by immunolabeling and transmission electron microscopy experiments on other non-retinal tissues.

Conclusions : Our results indicate that Lrguk could represent a novel basal body complex protein in photoreceptor cells. Due to its expression profile, LRGUK might be a promising new candidate gene for syndromic or non-syndromic retinal dystrophies caused by ciliary dysfunction.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.


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