Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
Open accessAbstract
The Angelman syndrome gene, UBE3A, is subject to genomic imprinting controlled by mechanisms that are only partially understood. Its antisense transcript, UBE3A-ATS, is also imprinted and hypothesized to suppress UBE3A in cis. In this research, we showed that the mouse antisense ortholog, Ube3a-ATS, was transcribed by RNA polymerase (RNAP) II. However, unlike typical protein-coding transcripts, Ube3a-ATS was not poly-adenylated and was localized exclusively in the nucleus. It was relatively unstable with a half-life of 4 h, shorter than most protein-coding RNAs tested. To understand the role of Ube3a-ATS in vivo, a mouse model with a 0.9-kb genomic deletion over the paternal Snrpn major promoter was studied. The mice showed partial activation of paternal Ube3a, with decreased expression of Ube3a-ATS but not any imprinting defects in the Prader-Willi syndrome/Angelman syndrome region. A novel cell culture model was also generated with a transcriptional termination cassette inserted downstream of Ube3a on the paternal chromosome to reduce Ube3a-ATS transcription. In neuronally differentiated embryonic stem (ES) cells, paternal Ube3a was found to be expressed at a high level, comparable with that of the maternal allele. To further characterize the antisense RNA, a strand-specific microarray was performed. Ube3a-ATS was detectable across the entire locus of Ube3a and extended beyond the transcriptional start site of Ube3a. In summary, we conclude that Ube3a-ATS is an atypical RNAPII transcript that represses Ube3a on the paternal chromosome. These results suggest that the repression of human UBE3A-ATS may activate the expression of UBE3A from the paternal chromosome, providing a potential therapeutic strategy for patients with Angelman syndrome.
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Maternal deletion of a single imprinted, maternally expressed gene encoding UBE3A on 15q11-q13 gives rise to the Angelman syndrome phenotype.
“Similarly, paternal-specific deletion of multiple imprinted, paternally expressed genes on the 15q11–q13 region results in Prader–Willi syndrome, whereas maternal deletion of a single, imprinted, maternally expressed gene encoding a ubiquitin-protein ligase (UBE3A) on this same region gives rise to the Angelman syndrome phenotype.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [195]
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- Authors
- Meng, L., Person, R. E., & Beaudet, A. L.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Beaudet, Arthur L.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-04-05
- Volume
- 21
- Issue
- 13
- Pages
- 3001-3012
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC3465693
- OpenAlex
- W2155623567
- Cited by
- 202
- References
- 48
- Citations by year
- 2026: 16 · 2025: 10 · 2024: 17 · 2023: 11 · 2022: 13 · 2021: 11 · 2020: 22 · 2019: 13 · 2018: 8 · 2017: 7 · 2016: 16 · 2015: 16 · 2014: 23 · 2013: 15 · 2012: 4
- FWCI
- 11.14
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Intellectual and Developmental Disabilities Research Center
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD037283)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer-related molecular mechanisms research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- UBE3A, genomic imprinting, antisense RNA, RNA polymerase II, paternal gene expression, Angelman syndrome, Prader-Willi syndrome, RNA stability, transcription termination, embryonic stem cells, treatment options
- MeSH terms
- Animals, Cells, Cultured, Female, Humans, Male, Mice, Inbred C57BL, Neurons, Promoter Regions, Genetic, RNA Polymerase II, Transcription, Genetic, RNA, Antisense, Angelman Syndrome, Genomic Imprinting, Polyadenylation, Ubiquitin-Protein Ligases, Mice, Embryonic Stem Cells, snRNP Core Proteins
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