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Effet de la dérégulation de la voie Sonic Hedgehog sur les réponses aux dommages de I'ADN et la prédisposition aux cancers

Aurélie Charazac 1
1 LAN - Laboratoire Lésions des Acides Nucléiques
SCIB - UMR E3 - Service de Chimie Inorganique et Biologique : DSM/INAC/SCIB
Abstract : The Gorlin syndrome is a rare genetic disorder characterized by several developmental abnormalities. Due to mutations in PTCH1, a key player of the sonic hedgehog signaling pathway, clinical manifestations also includes hyper-radiosensitivity and an increased predisposition to the development of basal cell carcinomas. Given the implication of DNA repair system defects in hyper-radiosensitivity pathologies, we decided to study the effect of PTCH1 mutations on the DNA damage response in order to better understand the cellular and molecular mechanisms leading to Gorlin's phenotype.This study demonstrate a global failure of the DNA damage repair systems in Gorlin fibroblasts with respect to controls. It highlights in particular the collapse of the base excision repair pathway (BER) responsible for the repair of oxidative DNA damage.
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Submitted on : Thursday, February 4, 2016 - 11:02:18 AM
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Aurélie Charazac. Effet de la dérégulation de la voie Sonic Hedgehog sur les réponses aux dommages de I'ADN et la prédisposition aux cancers. Biologie cellulaire. Université Grenoble Alpes, 2015. Français. ⟨NNT : 2015GREAV006⟩. ⟨tel-01267278⟩

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