Ontology highlight
ABSTRACT:
SUBMITTER: Garcia-Gonzalo FR
PROVIDER: S-EPMC3145011 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Garcia-Gonzalo Francesc R FR Corbit Kevin C KC Sirerol-Piquer María Salomé MS Ramaswami Gokul G Otto Edgar A EA Noriega Thomas R TR Seol Allen D AD Robinson Jon F JF Bennett Christopher L CL Josifova Dragana J DJ García-Verdugo José Manuel JM Katsanis Nicholas N Hildebrandt Friedhelm F Reiter Jeremy F JF
Nature genetics 20110703 8
Mutations affecting ciliary components cause ciliopathies. As described here, we investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential for ciliogenesis in some, but not all, tissues. Cell types that do not require Tctn1 for ciliogenesis require it to localize select membrane-associated proteins to the cilium, including Arl13b, AC3, Smoothened and Pkd2. Tctn1 forms a complex with multiple ciliopathy proteins associated with Meckel and Joubert synd ...[more]