Étude Du Gène Cernunnos, Un Lien Entre Réparation de l''adn Et Immunité
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Au cours de la formation du système immunitaire, les cellules subissent des dommages de l'ADN, dont l'origine peut ètre programmée par la cellule elle-mème. Chez les mammifères, ces lésions sont réparées par le système de réparation des extrémités non homologues (ou NHEJ), composé de sept facteurs: Ku70, Ku80, DNA-PKcs, Artémis, XRCC4, DNA LigaseIV et Cernunnos. Un défaut du NHEJ peut conduire à une déficience immunitaire sévère (SCID ou "bébés-bulles"), des anomalies du développement et des prédispositions au cancer. Ce travail de Thèse revient sur la constitution d'un groupe de patients et sur l'identification du gène Cernunnos responsable de leur défaut moléculaire. Nous parlerons aussi de la structure de Cernunnos, de ces fonctions distinctes de réparation de l'ADN, et de ses partenaires protéiques (XRCC4 et DNA Ligase IV). Par exemple, en créant des mutants de Cernunnos, nous avons établi qu'une partie de Cernunnos n'est pas essentielle à sa fonction ou encore nous avons mieux défini l'interaction de Cernunnos avec XRCC4. Toutes ces données établissent que Cernunnos est un élément important de la machinerie de la réparation de l'ADN.
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