Bulk RNA-sequencing of pigs with UBE3A maternal deletion [Pig_Cortex_bulkRNAseq]

Angelman syndrome is a neurodevelopmental disorder caused by the loss of the maternal allele of the ubiquitin-protein ligase E3A (UBE3A) gene. UBE3A is imprinted with maternal-allelic expression in neurons of the central nervous syndrome (CNS) and biallelically expressed in other cell types. Consequently, in Angelman syndrome, UBE3A is absent in CNS neurons and reduced by half in other cells. Comparing both bulk and single nuclei RNA-sequencing, we show that gene expression is dysregulated in neuronal subtypes in the frontal cortex of pigs with a UBE3A maternal deletion. Overall design: Three wildtype pigs were compared to three pigs with a maternally-inherited deletion of the Ubiquitin-protein ligase E3A (UBE3A) gene. Cortical tissue was isolated from the brains of male pigs approaching sexual maturity (140 days). Differential expression analysis was used to compare differences in gene expression that occur with maternal UBE3A loss.