Epilepsy-Associated UBE3A Deficiency Downregulates Retinoic Acid Signalling Pathway.

ABSTRACT: Ubiquitin-protein ligase E3A (UBE3A) has dual functions as a E3 ubiquitin-protein ligase and coactivator of nuclear hormone receptors. Mutations or deletions of the maternally inherited UBE3A gene cause Angelman syndrome. Here, we performed transcriptome profiling in the hippocampus of Ube3a ^m+/p+ and Ube3a ^m-/p+ mice, and determined that the expression of the retinoic acid (RA) signalling pathway was downregulated in Ube3a-deficient mice compared to WT mice. Furthermore, we demonstrated that UBE3A directly interacts with RARα and may function as a coactivator of the nuclear receptor RARα to participate in the regulation of gene expression. Loss of UBE3A expression caused the downregulation of the expression of RA-related genes, including <

SUBMITTER: Fang M 

PROVIDER: S-EPMC8113777 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature