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 neurodevelopmental syndromes and psychological conditions, suggesting that UBE3A is dosage-sensitive in the brain. The observation that loss of imprinting increases the dosage of UBE3A in brain further suggests that inactivation of the paternal UBE3A allele evolved as a dosage-regulating mechanism. To test this hypothesis, we examined UBE3A transcript and protein levels among cells, tissues, and species with different imprinting states of UBE3A.

Results

Overall, we fou

SUBMITTER: Hillman PR 

PROVIDER: S-EPMC5433054 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature