Ontology highlight
ABSTRACT:
SUBMITTER: Marchesin V
PROVIDER: S-EPMC6941224 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Cell reports 20191201 13
HNF4A is a nuclear hormone receptor that binds DNA as an obligate homodimer. While all known human heterozygous mutations are associated with the autosomal-dominant diabetes form MODY1, one particular mutation (p.R85W) in the DNA-binding domain (DBD) causes additional renal Fanconi syndrome (FRTS). Here, we find that expression of the conserved fly ortholog dHNF4 harboring the FRTS mutation in Drosophila nephrocytes caused nuclear depletion and cytosolic aggregation of a wild-type dHNF4 reporter ...[more]