Ross, A.J. and May-Simera, H. and Eichers, E.R. and Kai, M. and Hill, J. and Jagger, D.J. and Leitch, C.C. and Chapple, J.P. and Munro, P.M. and Fisher, S. and Tan, P.L. and Phillips, H.M. and Leroux, M.R. and Henderson, D.J. and Murdoch, J.N. and Copp, A.J. and Eliot, M.-M. and Lupski, J.R. and Kemp, D.T. and Dollfus, H. and Tada, M. and Katsanis, N. and Forge, A. and Beales, P.L. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nature Genetics , 37 (10) pp. 1135-1140. 10.1038/ng1644.
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The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt pathway) drives several important cellular processes, including epithelial cell polarization, cell migration and mitotic spindle orientation1. In vertebrates, PCP genes have a vital role in polarized convergent extension movements during gastrulation and neurulation2. Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction3, 4, share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles. Furthermore, we identify genetic interactions between BBS genes and a PCP gene in both mouse (Ltap, also called Vangl2) and zebrafish (vangl2). In zebrafish, the augmented phenotype results from enhanced defective convergent extension movements. We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes.
|Title:||Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology|
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Ear Institute
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