Dimerization defective MODY mutations of hepatocyte nuclear factor 4α

In this report, we present a set of data for the two MODY1 mutations found right at the dimerization interface (L332 P and L328del mutations) which clearly exhibit the disruptive effects of directly affecting dimerization, protein stability, and transcriptional activities. These data reinforced the fact that MODY mutations are loss-of-function mutations and HNF4α dimerization is essential for its optimal function and normal physiology.

Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 10, 2019 Category: Cytology Source Type: research