EMAIL THIS PAGE TO A FRIEND

Developmental cell

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


PMID 24582806

Abstract

The Hedgehog (Hh) pathway depends on primary ciliaxa0in vertebrates, but the signaling machinery within ciliaxa0remains incompletely defined. We report the identification of a complex between two ciliary proteins, EFCAB7 and IQCE, which positively regulates the Hhxa0pathway. The EFCAB7-IQCE module anchors thexa0EVC-EVC2 complex in a signaling microdomain atxa0the base of cilia. EVC and EVC2 genes are mutated inxa0Ellis van Creveld and Weyers syndromes, characterized by impaired Hh signaling in skeletal, cardiac, and orofacial tissues. EFCAB7 binds to a C-terminal disordered region in EVC2 that is deleted in Weyers patients. EFCAB7 depletion mimics the Weyers cellular phenotype-the mislocalization of EVC-EVC2 within cilia and impaired activation of the transcription factor GLI2. Evolutionary analysis suggests that emergence of these complexes might have been important for adaptation of an ancient organelle, the cilium, for an animal-specific signaling network.

Related Materials

Product #

Image

Description

Molecular Formula

Add to Cart

CKOZFN10743 CompoZr® Knockout ZFN Kit, Human IQCE (NM_001100390)