Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.

ABSTRACT:

Background

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a gene expression can prevent the onset of behavioral deficits. Whether UBE3A is required for brain function throughout life is unknown. Here, we address the importance of maintaining UBE3A expression after normal brain development.

Findings

Using a conditional mouse, we deleted the Ube3a gene at three ages spanning brain maturation. We assessed the consequences of Ube3a gene deletion by testing the mice in behavioral tasks previously shown to produce robust phenotypes in AS model mice. Early embryonic deletion

SUBMITTER: Sonzogni M 

PROVIDER: S-EPMC6532248 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature