Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons

ConclusionsFinding a significant increase in bothHERC2 andUBE3A in Dup15q neurons and significant decrease in these two genes in AS deletion neurons may explain differences between AS deletion class andUBE3A specific classes of AS mutation whereHERC2 is expressed at normal levels. Also, we identified an enrichment for FOXO1-regulated transcripts in Dup15q neurons including ASD-associated genesEHPB2 andRORA indicating a possible connection between this syndromic form of ASD and idiopathic cases.
Source: Molecular Autism - Category: Molecular Biology Source Type: research