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PLoS One. 2019 Mar 7;14(3):e0213269. doi: 10.1371/journal.pone.0213269. eCollection 2019.

Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.

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Faculty of Dentistry, Université de Montréal, Montréal, Québec, Canada.
CHU Sainte-Justine Research Center, Montréal, Québec, Canada.
Department of Basic Biomedical Sciences, Sanford Medical School, University of South Dakota, Vermillion, SD, United States of America.
École Polytechnique de Montréal, Montréal, Québec, Canada.
INRS-Institut Armand-Frappier, Université du Québec, Laval, Montréal, Québec, Canada.


Adolescent Idiopathic Scoliosis (AIS) is a spinal deformity that affects approximately 3 percent of human adolescents. Although the etiology and molecular basis of AIS is unclear, several genes such as POC5 have been identified as possible causes of the condition. In order to understand the role of POC5 in the pathogenesis of AIS, we investigated the subcellular localization of POC5 in cilia of cells over-expressing either the wild type (wt) or an AIS-related POC5 variant POC5A429V. Mutation of POC5 was found to alter its subcellular localization and to induce ciliary retraction. Furthermore, we observed an impaired cell-cycle progression with the accumulation of cells in the S-phase in cells expressing POC5A429V. Using immunoprecipitation coupled to mass spectrometry, we identified specific protein interaction partners of POC5, most of which were components of cilia and cytoskeleton. Several of these interactions were altered upon mutation of POC5. Altogether, our results demonstrate major cellular alterations, disturbances in centrosome protein interactions and cilia retraction in cells expressing an AIS-related POC5 mutation. Our study suggests that defects in centrosomes and cilia may underlie AIS pathogenesis.

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Conflict of interest statement

The authors have declared that no competing interests exist.

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