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Abundance and localization of human UBE3A protein isoforms

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SIROIS, Carissa L., Judy E. BLOOM, James J. FINK, Dea GORKA, Steffen KELLER, Noelle D. GERMAIN, Eric S. LEVINE, Stormy J. CHAMBERLAIN, 2020. Abundance and localization of human UBE3A protein isoforms. In: Human Molecular Genetics. Oxford University Press (OUP). 29(18), pp. 3021-3031. ISSN 0964-6906. eISSN 1460-2083. Available under: doi: 10.1093/hmg/ddaa191

@article{Sirois2020-11-04Abund-52412, title={Abundance and localization of human UBE3A protein isoforms}, year={2020}, doi={10.1093/hmg/ddaa191}, number={18}, volume={29}, issn={0964-6906}, journal={Human Molecular Genetics}, pages={3021--3031}, author={Sirois, Carissa L. and Bloom, Judy E. and Fink, James J. and Gorka, Dea and Keller, Steffen and Germain, Noelle D. and Levine, Eric S. and Chamberlain, Stormy J.} }

<rdf:RDF xmlns:dcterms="http://purl.org/dc/terms/" xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" xmlns:bibo="http://purl.org/ontology/bibo/" xmlns:dspace="http://digital-repositories.org/ontologies/dspace/0.1.0#" xmlns:foaf="http://xmlns.com/foaf/0.1/" xmlns:void="http://rdfs.org/ns/void#" xmlns:xsd="http://www.w3.org/2001/XMLSchema#" > <rdf:Description rdf:about="https://kops.uni-konstanz.de/rdf/resource/123456789/52412"> <dc:contributor>Levine, Eric S.</dc:contributor> <dc:contributor>Bloom, Judy E.</dc:contributor> <dc:contributor>Gorka, Dea</dc:contributor> <dc:language>eng</dc:language> <foaf:homepage rdf:resource="http://localhost:8080/jspui"/> <dc:creator>Bloom, Judy E.</dc:creator> <dspace:isPartOfCollection rdf:resource="https://kops.uni-konstanz.de/rdf/resource/123456789/28"/> <void:sparqlEndpoint rdf:resource="http://localhost/fuseki/dspace/sparql"/> <dc:creator>Levine, Eric S.</dc:creator> <dc:contributor>Fink, James J.</dc:contributor> <dc:creator>Gorka, Dea</dc:creator> <dcterms:available rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2021-01-14T10:48:41Z</dcterms:available> <dc:creator>Germain, Noelle D.</dc:creator> <dcterms:issued>2020-11-04</dcterms:issued> <dc:contributor>Sirois, Carissa L.</dc:contributor> <dc:contributor>Keller, Steffen</dc:contributor> <dc:creator>Chamberlain, Stormy J.</dc:creator> <dcterms:isPartOf rdf:resource="https://kops.uni-konstanz.de/rdf/resource/123456789/28"/> <dc:creator>Fink, James J.</dc:creator> <dc:contributor>Chamberlain, Stormy J.</dc:contributor> <dc:creator>Sirois, Carissa L.</dc:creator> <bibo:uri rdf:resource="https://kops.uni-konstanz.de/handle/123456789/52412"/> <dc:contributor>Germain, Noelle D.</dc:contributor> <dc:creator>Keller, Steffen</dc:creator> <dc:date rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2021-01-14T10:48:41Z</dc:date> <dcterms:title>Abundance and localization of human UBE3A protein isoforms</dcterms:title> <dcterms:abstract xml:lang="eng">Loss of UBE3A expression, a gene regulated by genomic imprinting, causes Angelman syndrome (AS), a rare neurodevelopmental disorder. The UBE3A gene encodes an E3 ubiquitin ligase with three known protein isoforms in humans. Studies in mouse suggest that the human isoforms may have differences in localization and neuronal function. A recent case study reported mild AS phenotypes in individuals lacking one specific isoform. Here we have used CRISPR/Cas9 to generate isogenic human embryonic stem cells (hESCs) that lack the individual protein isoforms. We demonstrate that isoform 1 accounts for the majority of UBE3A protein in hESCs and neurons. We also show that UBE3A predominantly localizes to the cytoplasm in both wild type and isoform-null cells. Finally, we show that neurons lacking isoform 1 display a less severe electrophysiological AS phenotype.</dcterms:abstract> </rdf:Description> </rdf:RDF>

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