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This article is part of the supplement: Proceedings of the First International Cilia in Development and Disease Scientific Conference (2012)

Open Access Poster presentation

The lebercilin-like protein is embedded in a ciliary protein network and is preferentially expressed in motile cilia

DA Mans1*, KLM Coene1, K Boldt2, IJC Lamers1, J van Reeuwijk1, NT Loges3, E Bolat1, L Franke4, L Hetterschijt1, SJF Letteboer1, TA Peters56, H Omran3, FPM Cremers1, M Ueffing27 and R Roepman1

Author Affiliations

1 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, the Netherlands

2 Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Germany

3 Children's Department, University Hospital Münster, Germany

4 Department of Genetics, University Medical Center Groningen and University of Groningen, Germany

5 Department of Otorhinolaryngology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, the Netherlands

6 Donders Institute for Brain, Cognition and Behaviour, the Netherlands

7 Department of Protein Science, Helmholtz Zentrum München, German Research Center for Environmental Health, Germany

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Cilia 2012, 1(Suppl 1):P93  doi:10.1186/2046-2530-1-S1-P93

The electronic version of this article is the complete one and can be found online at: http://www.ciliajournal.com/content/1/S1/P93


Published:16 November 2012

© 2012 Mans 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.

Poster presentation

Mutations in LCA5 are causative for Leber congenital amaurosis, a severe hereditary retinal dystrophy in humans. Lebercilin, encoded by LCA5, localizes to connecting cilia of photoreceptor cells in the retina and specifically interacts with the intraflagellar transport (IFT) machinery. Bioinformatic analysis has identified lebercilin-like protein, previously known as C21orf13, as a lebercilin homolog in humans. In this study, we have characterized the molecular properties of lebercilin-like protein by defining the lebercilin-like interactome and assessing its (sub)cellular localization in ciliated cells. We show that lebercilin-like protein is embedded in a ciliary protein network and specifically localizes at the basal body and ciliary axoneme of ciliated cells, like lebercilin. mRNA expression studies indicate that lebercilin-like protein is preferentially expressed in tissues featuring motile cilia and/or flagella. Based on these data and bioinformatic co-expression profiling, we suggest that LCA5L is a likely candidate gene for motile ciliopathies such as Primary Ciliary Dyskinesia (PCD).