Fig. 3: RFX3, RFX4, and RFX7 expression patterns in human cortex and haploinsufficiency gene dosage model. | Genetics in Medicine

Fig. 3: RFX3, RFX4, and RFX7 expression patterns in human cortex and haploinsufficiency gene dosage model.

From: Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Fig. 3: RFX3, RFX4, and RFX7 expression patterns in human cortex and haploinsufficiency gene dosage model.The alternative text for this image may have been generated using AI.

(a) Transcriptomic cell types in the prenatal human cortex identified by single-cell RNA-sequencing.24 (b) RFX3, 4, and 7 expression patterns in single cells of the prenatal human cortex. (c) Heatmap of RFX3, 4, and 7 expression levels among cell types in the prenatal human cortex. (d) Transcriptomic cell types in the postnatal human cortex identified by single-cell RNA-sequencing.11 (e) RFX3, 4, and 7 expression patterns in single cells of the postnatal human cortex. (f) Heatmap of RFX3, 4, and 7 expression levels among cell types in the postnatal human cortex. (g) The enrichment of KEGG pathways, ciliary genes, ASD risk gene sets, and ASD differentially expressed genes (DEGs) among RFX3 ChIP-seq binding targets. Pathways and ASD gene sets are ranked by their statistical significance (p.adjust values, Benjamini–Hochberg’s correction). Red arrows indicate ASD risk gene sets and ASD DEGs. X-axis shows the number of genes bound by RFX in their promoter regions. (h) Binding of RFX family transcription factors bind to X-box motif in promoter regions of ciliary and immunologic genes. Target gene lists obtained from Piasecki, Durand, Reith, Sugiaman-Trapman.3,38,39,40 Model of RFX gene dose-dependent regulation of genes. In tissues with higher expression of RFX genes, ASD genes are activated. Lower levels of RFX genes are sufficient to activate ciliary genes. ASD autism spectrum disorder, AST-FB fibrous astrocytes, AST-PP protoplasmic astrocytes, End endothelial, ExDp1 excitatory deep layer 1, ExDp2 excitatory deep layer 2, ExM-U maturing excitatory upper enriched, ExM maturing excitatory, ExN migrating excitatory, IN-PV parvalbumin interneurons, IN-SST somatostatin interneurons, IN-SV2C SVC2 expressing interneurons, IN-VIP VIP interneurons, InCGE interneuron CGE, InMGE interneuron MGE, IP intermediate progenitors, L2/3 layer 2/3 excitatory neurons, L4 layer 4 excitatory neurons, L5/6-CC layer 5/6 excitatory cortico-cortical projection neurons, L5/6 layer 5/6 excitatory neurons, Mic microglia, Neu-mat immature neurons, Neu-NRGN NRGN expressing neurons, OPC oligodendrocyte precursor cells, OPC oligodendrocyte precursor cells, oRG outer radial glia, Per pericyte, PgG2M cycling progenitors G2/M phase, PgS cycling progenitors S phase, vRG ventricular radial glia11.

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