Fig. 7: Mapping of prenatal cell type signatures to human disorders.
From: An atlas of late prenatal human neurodevelopment resolved by single-nucleus transcriptomics
a Heatmap showing z-scored enrichment for module scores calculated from published/curated lists of disease-associated genes. Z-scores are averaged per cell subtype. b Dot plot showing log-transformed expression averaged per cell subtype and proportion of nuclei that express each glioma-associated gene. c Scatter plot representation of enrichment scores for prenatal germinal matrix cell types calculated using published signatures used to define glioma cell states (“MES-like”, “AC-like”, “NPC-like”, “OPC-like”)50. d Heatmap showing the average enrichment scores of all GM cell type signatures assigned to neoplastic cells from an external single-cell RNA-seq dataset of adult and pediatric grade IV gliomas (glioblastomas)50. Average enrichment scores are computed using the top 50 DEGs for each GM cell type (DEG significance calculated using two-sided Wilcoxon Rank Sum test with p-adj. > 0.05; average log2(fold change) >0.5 or <−0.5). e UMAP plot of GM cell type assignments to GBM cells in the Neftel et al dataset50, based on highest enrichment score from (d). f Pie charts quantifying the proportions of GM cell types assigned onto GBM cells from (e), divided into glioma cell states (“OPC-like”,”AC-like”, “NPC1/2-like”, and “MES1/2-like”). The predominant predicted cell type for each state is included below. Source data for (f) are provided as a Source Data file. See also Supplementary Figs. 9 and 10. RG radial glia, oRG outer radial glia, tRG truncated radial glia, EPD ependymal cell, AC astrocyte, gIPC glial intermediate progenitor cell, OPC oligodendrocyte progenitor cell, preOL premyelinating/early myelinating BCAS1+ oligodendrocyte, nIPC neuronal intermediate progenitor cell, mIPC multipotent intermediate progenitor cell MSN medium spiny neuron, EN excitatory neuron, CPN cortical projection neuron, SPN subplate neuron, CRN Cajal Retzius cell, IN interneuron, MG microglia, BVC blood vessel cell, L2/3, L4, L5/6 neocortical layers 2/3, 4, 5/6, GM prenatal germinal matrix, CP choroid plexus, gw gestational weeks.
