Bulk RNA-sequencing of pigs with UBE3A maternal deletion [Pig_CSC_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. Using bulk RNA-sequencing, we show that gene expression is dysregulated in the cervical spinal cord 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. Cervical spinal cord tissue was isolated from male pigs approaching sexual maturity (140 days). Differential expression analysis was used to compare differences in gene expression that occur with maternal UBE3A loss.