Caractérisation d’un variant d’épissage alternatif du gène FANCE et son impact sur la voie de réparation de l'ADN FANC-BRCA

Authors: Bouffard, Frédérick
Advisor: Durocher, Francine
Abstract: Several alternative splicing events were identified for some genes of the FANC family, such as FANCE. The integrity of the proteins of the FANC-BRCA DNA repair pathway is necessary to maintain efficient ICL repair. We studied the impact of the expression of an alternative splicing isoform, FANCE∆4. Its exclusive expression in FANCE-deficient cells (EUFA130) is not sufficient to restore the activation of the pathway. Following treatment with crosslink agent (mitomycin C), EUFA130 cells complemented with FANCE∆4 are blocked in G2/M phase of the cell cycle, the viability is not increased and the monoubiquitination of FANCD2 and FANCI is absent, in contrast to EUFA130 cells complemented with FANCE. This project highlights FANCE∆4 that cannot replace FANCE in regard to DNA repair.
Document Type: Mémoire de maîtrise
Issue Date: 2015
Open Access Date: 23 April 2018
Grantor: Université Laval
Collection:Thèses et mémoires

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