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

Amani Hassan, Stefan Parent, Hélène Mathieu, Charlotte Zaouter, Sirinart Molidperee, Edward T. Bagu, Soraya Barchi, Isabelle Villemure, Shunmoogum A. Patten and Florina Moldovan

Article (2019)

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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.

Uncontrolled Keywords

Adolescent; Carrier Proteins/*genetics/metabolism; Case-Control Studies; *Cell Cycle; Centrosome/*metabolism; Cilia/metabolism/*pathology; Cytoskeleton/metabolism/pathology; Humans; Mutant Proteins/genetics/*metabolism; *Mutation; Scoliosis/genetics/metabolism/*pathology

Subjects: 1900 Biomedical engineering > 1900 Biomedical engineering
Department: Department of Mechanical Engineering
Funders: Fondation Yves Cotrel-Institut de France, Fonds de recherche du Québec - Santé, Réseau de Recherche en Santé Buccodentaire et Osseuse (RSBO), Canadian Institutes of Health Research (CIHR)/Instituts de recherche en santé du Canada (IRSC), Scoliosis Research Society (SRS)
PolyPublie URL: https://publications.polymtl.ca/4933/
Journal Title: PLOS One (vol. 14, no. 3)
Publisher: PLOS
DOI: 10.1371/journal.pone.0213269
Official URL: https://doi.org/10.1371/journal.pone.0213269
Date Deposited: 20 Jan 2022 14:53
Last Modified: 20 May 2023 02:51
Cite in APA 7: Hassan, A., Parent, S., Mathieu, H., Zaouter, C., Molidperee, S., Bagu, E. T., Barchi, S., Villemure, I., Patten, S. A., & Moldovan, F. (2019). Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions. PLOS One, 14(3), e0213269 (17 pages). https://doi.org/10.1371/journal.pone.0213269


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