Dissecting the neurodevelopmental role of the microtubule-associated protein EML1, mutated in subcortical heterotopias

BIZZOTTO, S; PHAN DINH TUY, F; KIELAR, M; ROMERO, D.M; HOULLIER, A; CANALI, G; WELKER, E; HOUDUSSE, A; CROQUELOIS, A; FRANCIS, F

Montpellier

Congreso; 12th Colloquium of the French Society of Neurosciences; 2015

French Society of Neurosciences

Subcortical band heterotopia (SBH) is a corticalmalformation associated with intellectual disability and epilepsy, andcharacterized by the presence of a band of heterotopic neurons located in thewhite matter below a grossly normal cortex. Mutations were identified in themicrotubule-binding protein Eml1/EML1 in the spontaneous HeCo (Heterotopic cortex) mouse mutant, a model of SBH, and in patients exhibiting giantribbon-like heterotopia. HeCo mice have misplaced progenitors and ectopicproliferation, which are likely to be the primary causes of their heterotopia.The role of Eml1 in neurodevelopment has notbeen previously studied. We aimed to explore Eml1´s function in progenitors.Our objectives were to study Eml1 association and role with respect tomicrotubules (MTs) and to perform cell biology studies to study neuronalprogenitor behaviour in the presence or absence of Eml1. Also we are searchingfor Eml1 protein partners in mouse embryonic brain extracts.