Thesis supervisor: Ágnes Tantos
Location of studies (in Hungarian): Institute of Enzymology, Research Centre for Natural Sciences Abbreviation of location of studies: ELKH
Description of the research topic:
The goal of the project is the description of the molecular background of a recently described serious genetic disease, caused by point mutations in the 38/39th exons of KMT2D. This region is responsible for RNA binding in the protein. The PhD project focuses on the structural and functional effects of the 11 identified point mutations. Structural studies will be carried out with CD and NMR spectroscopy as well as X-ray crystallography and functional studies will be done in induced pluripotent stem cells.
Required language skills: English Further requirements: Advanced molecular biology studies, experience with bacterial expression systems: cloning and purification of recombinant proteins.