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- W2949612082 abstract "Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function from the maternal allele of UBE3A , a gene encoding an E3 ubiquitin ligase. UBE3A is only expressed from the maternally inherited allele in mature human neurons due to tissue-specific genomic imprinting. Imprinted expression of UBE3A is restricted to neurons by expression of UBE3A antisense transcript ( UBE3A-ATS ) from the paternally inherited allele, which silences the paternal allele of UBE3A in cis . However, the mechanism restricting UBE3A-ATS expression and UBE3A imprinting to neurons is not understood. We used CRISPR/Cas9-mediated genome editing to functionally define a bipartite boundary element critical for neuron-specific expression of UBE3A-ATS in humans. Removal of this element led to up-regulation of UBE3A-ATS without repressing paternal UBE3A . However, increasing expression of UBE3A-ATS in the absence of the boundary element resulted in full repression of paternal UBE3A , demonstrating that UBE3A imprinting requires both the loss of function from the boundary element as well as the up-regulation of UBE3A-ATS . These results suggest that manipulation of the competition between UBE3A-ATS and UBE3A may provide a potential therapeutic approach for AS." @default.
- W2949612082 created "2019-06-27" @default.
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- W2949612082 date "2019-01-23" @default.
- W2949612082 modified "2023-10-01" @default.
- W2949612082 title "A bipartite boundary element restricts <i>UBE3A</i> imprinting to mature neurons" @default.
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- W2949612082 doi "https://doi.org/10.1073/pnas.1815279116" @default.
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