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29 September

Valeria NAIM Fanconi anemia: a disease model to understand causes and consequences of common fragile site instability

Invité par Hervé LE HIR - Section Génomique fonctionnelle

11h à 12h

Le séminaire de Valeria NAIM aura lieu dans la salle Favard, IBENS 46 rue d’Ulm 75005 Paris

Originally described by cytogeneticists, common fragile sites (CFSs) are chromosomal regions known for their susceptibility to break and rearrange aberrantly, thus altering the expression of genes located therein. CFS instability is associated with tumor development and pathogenic copy number variations. Recent advances have significantly contributed to dissect the molecular bases of CFS instability, yet a unifying model for their unique breakage propensity has not been determined. Fanconi anemia (FA) is a chromosomal instability syndrome featuring congenital abnormalities, bone marrow failure and cancer predisposition, characterized by an increased CFS fragility. FA is thus an ideal model to understand the mechanisms underpinning CFS instability and the mechanistic link between CFS instability and the pathogenesis of disease phenotypes.

Pawlikowska P, Fouchet P, Vainchenker W, Rosselli F, NAIM V. Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca-/- mice. Blood. 2014

NAIM V, Wilhelm T, Debatisse M, Rosselli F. ERCC1 and MUS81-EME1 promote sister chromatid separation by processing late replication intermediates at common fragile sites during mitosis. Nat Cell Biol. 2013

NAIM V, Rosselli F. The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities. Nat Cell Biol. 2009