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Article

Genomic imprinting does not reduce the dosage of UBE3A in neurons.

Epigenetics & chromatin - 1 Jan 2017

Hillman Paul R, Christian Sarah G B, Doan Ryan, Cohen Noah D, Konganti Kranti, Douglas Kory, Wang Xu, Samollow Paul B, Dindot Scott V

Abstract excerpt

BACKGROUND: The ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-specific expression in neurons and biallelically expressed in all other cell types. Both loss-of-function and gain-of-function mutations affecting the dosage of UBE3A are associated with several neurodevelopmental syndromes and psychological conditions, suggesting that UBE3A is dosage-sensitive in the brain. The observation...

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Identifiers

PMID: 28515788
DOI: 10.1186/s13072-017-0134-4
PMCID: PMC5433054

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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