Research interests
MOF (Males absent on the First, also called KAT8 or MYST1) is a lysine acetyltransferase that is associated with two main complexes, the MSL (Male-Specific-Lethal) and the NSL (Non-Specific Lethal) complexes. MOF is responsible for the maintenance of different histone post-translational modifications, such as H4K16, H4K5, H4K8, and H4K12, as well as non-histone targets, depending on its associated complex. Recent studies have shown a relationship with mutations in MOF and its complexes with several human developmental syndromes. Heterozygous mutations in the KANSL1 gene, one of the main components of the NSL complex, has been found as the main cause of the Koolen-de Vries Syndrome. However, the molecular processes by which these mutations dysregulate development are still unknown. The focus of my PhD project is to uncover the molecular and metabolic dysregulation caused by a Kansl1 heterozygous condition during neurodevelopment.
