Genomic imprinting does not reduce the dosage of UBE3A in neurons

Genomic imprinting does not reduce the dosage of UBE3A in neurons

Abstract 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 neurode...

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Bibliographic Details
Main Authors: Paul R. Hillman, Sarah G. B. Christian, Ryan Doan, Noah D. Cohen, Kranti Konganti, Kory Douglas, Xu Wang, Paul B. Samollow, Scott V. Dindot
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Epigenetics & Chromatin
Subjects:
Ube3a
Genomic imprinting
Dosage compensation
Angelman syndrome
Ube3a antisense
Evolution
Online Access:http://link.springer.com/article/10.1186/s13072-017-0134-4

Internet

http://link.springer.com/article/10.1186/s13072-017-0134-4

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