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Updated: Jun 16, 2026

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
Ciliary and Osteogenic Defects as Central Drivers of AIS in POC5 Mutation Models
Pardis Behzadi1, Amani Hassan2, Hélène Mathieu1
1Research Center Azrieli, CHU Sainte-Justine, Université de Montréal, Canada.
Abstract:
Adolescent idiopathic scoliosis (AIS) is a multifactorial spinal deformity with poorly understood molecular mechanisms. This study investigates the role of the centrosomal protein POC5 in AIS pathogenesis using in vitro cellular systems and in vivo vertebrate models. POC5 mutations were found to disrupt centrosomal localization, impair ciliogenesis, alter cell-cycle progression, and reduce osteogenic differentiation. Functional analyses in zebrafish and mouse models revealed spinal deformities, retinal abnormalities, and multisystem defects consistent with ciliopathy-related phenotypes. These findings support a model in which POC5-dependent dysfunction contributes to AIS through impaired mechano-transduction and altered skeletal development.
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