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, Caractérisation fonctionnelle de la protéine ANKS3 impliquée dans les ciliopathies rénales et étude de son rôle dans la régulation des ARNs
, Mon projet de thèse a porté sur la caractérisation de la fonction d'ANKS3 et de l'impact de la mutation humaine dans les processus cellulaires altérés dans les ciliopathies rénales. Ces études ont été réalisées à partir de différents modèles cellulaires: fibroblastes de patients, cellules tubulaires rénales IMCD3 déplétés pour Anks3 (ANKS3_KD) ré-exprimant la forme sauvage ou mutée. Mes travaux ont ainsi montré que la mutation du gène ANSK3 diminue son interaction avec les composants de la TZ, NPHP1 et du CI, NEK8. Par ailleurs, l'absence ou l'expression de la forme mutée d'ANKS3 perturbe la taille des cils et la biogenèse du CI, avec une relocalisation anormale des composants du CI tout le long du cil. De plus, une perturbation de la signalisation ciliaire de la voie Shh et de la localisation de la protéine Polycystine-2 au cil ont été observée dans les cellules ANKS3_KD ou KD_P269L. Des alterations de la motilité cilaire et de l'élevation calcique ont également été observés dans la vésicule de Kupffer du poisson zèbre muté pour anks3 (TALEN), entrainant des défauts de latéralité. Outre ces défauts ciliaires, la perte ou la mutation d'ANKS3 entrainent des anomalies de polarité apico-basale dans les cellules tubulaires rénales IMCD, avec une diminution de la hauteur des cellules et un retard de la formation des jonctions serrées, un phénotype déjà observé dans les modèles mutés pour NPHP1. De façon coherente, NPH) est une néphropathie tubulo-interstitielle autosomique récessive, caractérisée par la présence d'une fibrose interstitielle massive et la formation de kystes. Elle est une cause majeure d'insuffisance rénale terminale chez l'enfant ou le jeune adulte. Elle peut être isolée ou associée à des atteintes extrarénales. La NPH appartient au groupe des ciliopathies, un ensemble de maladies multisystémiques causées par des mutations dans des gènes codant pour des protéines participant à la fonction des cils primaires et motiles. Le cil primaire agit, à la surface de la plupart des cellules, comme un mécano et chimiosenseur contrôlant des voies de signalisation essentielles au développement et à l'homéostasie tissulaire (Sonic hedgehog (Shh)