Beyond cohesion

The main objective of this proposal is to gain further insights into the role of both cohesin and Separase-dependent pathways in genome stability maintenance, human chromatin organization beyond cohesins regulation and the development of human disease characterized by intellectual disability (ID) and epilepsy. We propose to use the human cultured cell lines and Drosophila melanogaster model systems to tackle specific tasks within the following topics: 1) Assessing the role of Separase in dynamics changes of chromatin organization; 2) Addressing a conserved functional relationship between Separase and RAD50; 3) Uncovering the role of SMC1A in intellectual disability and pharmaco-resistant epilepsy.