16-P003 Evc and Evc2 are interacting cilia transmembrane proteins that modulate Ihh signalling

نویسندگان

  • Helen J. Blair
  • Stuart Tompson
  • Yu-Ning Liu
  • Jennifer Campbell
  • Judith A. Goodship
چکیده

Marc A. Willaredt, Kerstin Hasenpusch-Theil, Humphrey Gardner, Igor Kitanovic, Vera Hirschfeld-Warneken, Christian Gojak, Karin Gorgas, C. Lulu Bradford, Joachim Spatz, Stefan Woelfl, Thomas Theil, Kerry L. Tucker 1 Interdisciplinary Center for Neurosciences, University of Heidelberg, Heidelberg, Germany 2 Dept. of Anatomy, University of Heidelberg, Heidelberg, Germany 3 Centres for Neuroscience Research and Integrative Physiology, University of Edinburgh, Edinburgh, United Kingdom 4 Novartis Institutes forBioMedicalResearch, Cambridge, MA, United States 5 Institute of Pharmacy and Molecular Biotechnology, University of Heidelberg, Heidelberg, Germany 6 Institute for Physical Chemistry, Dept. of Biophysical Chemistry, University of Heidelberg, Heidelberg, Germany 7 Max Planck Institute for Metals Research, Stuttgart, Germany

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EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.

UNLABELLED The Hedgehog (Hh) pathway depends on primary cilia in vertebrates, but the signaling machinery within cilia remains incompletely defined. We report the identification of a complex between two ciliary proteins, EFCAB7 and IQCE, which positively regulates the Hh pathway. The EFCAB7-IQCE module anchors the EVC-EVC2 complex in a signaling microdomain at the base of cilia. EVC and EVC2 ge...

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Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss-of-func...

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عنوان ژورنال:
  • Mechanisms of Development

دوره 126  شماره 

صفحات  -

تاریخ انتشار 2009