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

التفاصيل البيبلوغرافية
العنوان: Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.
المؤلفون: Linyan Meng, Richard Erwin Person, Wei Huang, Ping Jun Zhu, Mauro Costa-Mattioli, Arthur L Beaudet
المصدر: PLoS Genetics, Vol 9, Iss 12, p e1004039 (2013)
بيانات النشر: Public Library of Science (PLoS), 2013.
سنة النشر: 2013
المجموعة: LCC:Genetics
مصطلحات موضوعية: Genetics, QH426-470
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1553-7390
1553-7404
Relation: http://europepmc.org/articles/PMC3873245?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404
DOI: 10.1371/journal.pgen.1004039
URL الوصول: https://doaj.org/article/6db93101d4b7448eb130bb6f7905a17d
رقم الأكسشن: edsdoj.6db93101d4b7448eb130bb6f7905a17d
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:15537390
15537404
DOI:10.1371/journal.pgen.1004039