DGCR8 haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defects

The 22q11.2 deletion syndrome (22qDS) is caused by a microdeletion in one of the chromosomes 22, comprising around 40 genes and including DGCR8, an essential gene for miRNA biogenesis and transposable elements control. Most of the clinical manifestations of 22qDS have their origin during embryonic development, but the contribution of human DGCR8 hemizygosity to the disease is unknown. To clarify the overall effect of DGCR8 in the context of 22qDS, we have generated two human embryonic models of DGCR8 +/-.In this dataset we use small RNA-seq to study the effect of DGCR8 heterozygosity on steady state miRNA levels in human embryonic stem cells. Comparative gene expression profiling analysis of small RNA-seq data for WT H9 cells and two different DGCR8 heterozygous clones generated by CRISPR/Cas9 nickase system.