Molecular and functional in vivo characterization of telo2-interacting protein 2 (tti2) during zebrafish embryonic development

This project has been funded thanks to the Joint Call Fondazione Cariplo and Fondazione Telethon 2025.

Neurodevelopmental disorders result from an alteration in the normal growth and maturation processes of the nervous system. In some cases, such as intellectual disability, they are associated with specific genes. Our project focuses on a specific gene called TTI2, TELO2-Interacting protein 2, classified as “tDark” and therefore largely uncharacterized. Loss of function of TTI2 in five child patients has been associated to a rare severe autosomal recessive intellectual disability and primary microcephaly. However, the first cellular and molecular mechanisms have yet to be clarified. In this project we propose to investigate the viability of tti2-deficiency in zebrafish animal model and use transcriptomic analysis to identify potential target.