Fig. 2: Cell-type-specific effects of the 22q11.2 deletion.
From: The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia
a Expression of selected marker genes and 95%-confidence interval of the mean for defined specific cell stages by suppression of genes related to pluripotency (SOX2, OCT4, NANOG, MKI67) and up-regulation of genes characteristic for neural progenitor cells (NEUROD1, SOX2, EMX2, OTX2, HES1, MSI1, MKI67) and mature neurons (NEUN, SYN1, DCX, MAP2, TUJ1, NCAM, MAPT) as the differentiation progresses. b Venn Diagram highlighting the number and directionality of shared and unique differentially expressed genes (FDR < 5%) between deletion carriers and controls at each cell stage. Genes within the deletion region (cis) are mostly shared across development stages, whereas genes outside the deletion region (trans) are cell-stage specific. c–e, Volcano plots showing differential gene expression in stem cells (c), NPCs (d) and neurons (e) Significantly differentially expressed genes (FDR < 5%) within the deletion region are presented in red and outside deletion in black. Non-significant genes in deletion region are presented in blue. The test statistics were derived from Wald-test in DEseq2 and are presented in Supplementary Data 1–3.
