Pre- and post-synaptic cell-adhesion molecules are essential for normal synapse formation and synaptic transmission. The diversity of neuronal networks is generated by a combinatorial mixture of these molecules as well as their regulation by alternative splicing to amplify the number of protein isoforms. As for every gene, the expression of cell-adhesion molecules are highly regulated by alternative splicing. The magnitude of this regulation is however still poorly understood and characterized.
We are interested in characterizing the alternative splicing regulation of several genes associated to autism, schizophrenia, and epilepsy. This work is performed in collaboration with the lab of Fabrice Ango (IGF – Montpellier). Our preliminary results have led to discover uncharacterized exons that are expressed in the course of brain development and highly conserved in evolution. Interestingly, their alternative inclusion is correlated with the developmental stage of synapse formation suggesting that they play a functional role. Therefore, we have for project to characterize the functional consequences of this regulation, as well as identifing their potential role in diseases.