UBTF is a set of nuclear transcription factor that recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase. In this framework, the UBTF E210K mutation triggers a gain of function effect which is a crucial factor in a rare form of developmental neuro-regression in the childhood. The main goal of this work is to characterize the interaction of both the wild type and mutated UBTF protein with the DNA double strand, to understand the molecular reasons responsible for the destructive effect of the mutated UBTF.
Figure: UBTF-HMGbox-2 binding the target minor DNA groove.