Project

Gene expression is associated with DNA repair via specific pathways to ensure the continuity of RNA synthesis and the genome integrity after DNA damage. Several proteins are essential to control both transcription and some DNA repair pathways. Mutations on these specific proteins can originate genetic disorders such as Cockayne syndrome (CS) due to mutations on CSA and CSA mainly. Recently, mutations localized on unrelated proteins have been associated to rare diseases phenocopying CS regrouped as CS-like. Our project aims to characterize the transcriptomic profile of fibroblasts derived from different CS and CS-like patients with or without induction of DNA damage through UV-irradiation. We expect to identify signatures that will allow to uncover similarities and/or specificities between CS and CS-like context. Such transcriptomic signatures are crucial to better understand these rare diseases and develop tools for a more relevant diagnosis.