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Updated: May 31, 2026
07:07
Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Francesc R Garcia-Gonzalo1, Kevin C Corbit, María Salomé Sirerol-Piquer
1Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, California, USA.
Nature Genetics
|July 5, 2011
Summary
Tectonic1 (Tctn1) is crucial for ciliogenesis and protein transport in certain tissues, forming a complex with other ciliopathy proteins at the transition zone. This complex
Area of Science:
- Cell Biology
- Genetics
- Developmental Biology
Background:
- Ciliopathies are genetic disorders caused by mutations in ciliary components.
- The Tectonic1 (Tctn1) protein regulates mouse Hedgehog signaling and is involved in ciliogenesis.
Purpose of the Study:
- To investigate the role of Tectonic1 (Tctn1) in ciliogenesis and its association with ciliopathies.
- To identify the protein complex Tctn1 interacts with and its function at the ciliary transition zone.
Main Methods:
- Investigated Tctn1 function in different cell types.
- Analyzed Tctn1 complex formation with known ciliopathy proteins.
- Examined protein localization to cilia.
- Studied tissue-specific defects in ciliogenesis and ciliary membrane composition upon loss of function for Tctn1 complex components.
Main Results:
- Tctn1 is essential for ciliogenesis in some tissues but not all.
- Tctn1 facilitates the localization of key ciliary membrane proteins (Arl13b, AC3, Smoothened, Pkd2) in cells where it's not required for ciliogenesis.
- Tctn1 forms a complex with multiple Meckel and Joubert syndrome proteins (Mks1, Tmem216, Tmem67, Cep290, B9d1, Tctn2, Cc2d2a) at the ciliary transition zone.
- Loss of Tctn2, Tmem67, or Cc2d2a results in tissue-specific defects in ciliogenesis and ciliary membrane composition.
- A TCTN1 mutation was identified in a patient with Joubert syndrome.
Conclusions:
- A transition zone complex involving Meckel and Joubert syndrome proteins regulates ciliary assembly and protein trafficking.
- Dysfunction of this transition zone complex is implicated as the cause of Joubert and Meckel syndromes.
- Tctn1 plays a critical role in both ciliogenesis and maintaining ciliary membrane composition, depending on the cell type.
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