Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model

PLoS Genet. 2013;9(12):e1004039. doi: 10.1371/journal.pgen.1004039. Epub 2013 Dec 26.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angelman Syndrome / complications
  • Angelman Syndrome / genetics*
  • Angelman Syndrome / pathology
  • Animals
  • Disease Models, Animal
  • Gene Silencing
  • Genomic Imprinting
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Mice
  • Molecular Targeted Therapy
  • Neurons / metabolism
  • RNA, Antisense / genetics
  • Speech Disorders / complications
  • Speech Disorders / genetics*
  • Speech Disorders / pathology
  • Transcription, Genetic
  • Ubiquitin-Protein Ligases / biosynthesis
  • Ubiquitin-Protein Ligases / genetics*
  • Ubiquitin-Protein Ligases / metabolism

Substances

  • RNA, Antisense
  • Ube3a protein, mouse
  • Ubiquitin-Protein Ligases