2046-2530-1-S1-O21 2046-2530 Oral presentation <p>Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity</p> Schneider-MaunourySsylvie.schneider-maunoury@snv.jussieu.fr MahuzierA GaudéHM AnselmeI SilbermannF Leroux-BergerM MontcouquiolM SaunierS VesqueC

CNRS UMR7622, Université Pierre et Marie Curie, France

INSERM U983, Hôpital Necker-Enfants Malades, France

INSERM U862, Université Bordeaux 2, France

Cilia <p>Proceedings of the First International Cilia in Development and Disease Scientific Conference (2012) </p>Phil L Beales and Hannah M MitchisonThis supplement has not been supported by sponsorship or other external funding.Meeting abstracts<p>First International Cilia in Development and Disease Scientific Conference (2012)</p>London, UK16-18 May 2012http://www.ciliopathyalliance.org/2046-2530 2012 1 Suppl 1 O21 http://www.ciliajournal.com/content/1/S1/O21 10.1186/2046-2530-1-S1-O21
16112012 2012Schneider-Maunoury et al; licensee BioMed Central Ltd.This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Cilia are involved in planar polarity in different systems but the mechanisms by which they influence the polarization process are unclear 1. In order to clarify this issue, we investigated the function of the ciliary gene Rpgrip1l (Ftm/NPHP8/MKS5) in the mammalian cochlear sensory epithelium and in the zebrafish floor plate. We and others have previously shown that mutations in the human RPGRIP1L gene cause Meckel and Joubert type B syndromes 2. The Rpgrip1l protein is localised at the ciliary transition zone and is required for transduction of the Hh/Gli pathway 3. Our recent work has shown that Rpgrip1l patterns the telencephalon via the regulation of Gli3 proteolytic cleavage 4. Here we show that in both the mammalian cochlear sensory epithelium and the zebrafish floor plate, Rpgrip1l is required for correct positioning of the basal body along the planar polarity axis. Our results strongly suggest that Rpgrip1l is essential for stabilizing the adaptor protein dishevelled at the basal body and/or cilium. Finally, we demonstrate that, in the zebrafish floor plate, the function of Rpgrip1l in basal body positioning is mediated by dishevelled. We propose that Rpgrip1l participates in a protein complex required for stabilizing dishevelled at the cilium, and that this stabilization is essential for asymmetric localization of the basal body along the planar polarity axis.

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