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Updated: Sep 6, 2025
07:07
Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
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CPLANE Complex and Ciliopathies
Jesús Eduardo Martín-Salazar1, Diana Valverde1,2
1CINBIO, Biomedical Research Centre, University of Vigo, 36310 Vigo, Spain.
Biomolecules
|June 24, 2022
Summary
The CPLANE complex is crucial for cilia formation, involving planar cell polarity and Hedgehog signaling. Defects in CPLANE genes may cause ciliopathies like orofacial-digital syndrome and Bardet-Biedl syndrome.
Area of Science:
- Cell Biology
- Genetics
Background:
- Primary cilia are non-motile organelles vital for cell cycle regulation in vertebrates.
- Cilia formation (ciliogenesis) depends on mechanisms like planar cell polarity (PCP) and Hedgehog (Hh) signaling.
- Gene complexes such as BBSome and CPLANE are implicated in ciliogenesis.
Purpose of the Study:
- To explore the role of the CPLANE complex in ciliogenesis.
- To investigate the link between CPLANE gene defects and ciliopathies.
Main Methods:
- Analysis of gene complexes involved in ciliogenesis, specifically the CPLANE complex.
- Examination of the relationship between CPLANE subunits (INTU, FUZ, WDPCP) and associated factors (JBTS17, RSG1).
Main Results:
- The CPLANE complex, comprising INTU, FUZ, and WDPCP, is essential for cilia formation.
- Defects in CPLANE-associated genes disrupt intraflagellar transport, PCP, and Hh signaling.
- These disruptions lead to defective cilia formation and associated ciliopathies.
Conclusions:
- The CPLANE complex plays a critical role in ciliogenesis.
- Defects in genes encoding CPLANE subunits are linked to ciliopathies, including OFDS and BBS.
- Further research into CPLANE gene defects may reveal connections to other ciliopathies.
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