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Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene  UBE3A . Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating the silenced paternal allele of  Ube3a  by depleting its antisense RNA  Ube3a-ATS  in mice. Premature termination of  Ube3a-ATS  by poly(A) cassette insertion activates expression of  Ube3a  from the paternal chromosome, and ameliorates many disease-related symptoms in the AS mouse model, including motor coordination defects, cognitive deficit, and impaired long-term potentiation. Studies on the imprinting mechanism of  Ube3a  revealed a pattern of biallelic transcription initiation with suppressed elongation of paternal  Ube3a , implicating transcriptional collision between sense and antisense polymerases. These studies demonstrate the feasibility and utility of unsilencing the paternal copy of  Ube3a  via targeting  Ube3a-ATS  as a treatment for Angelman syndrome.

Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model