Fig. 1: Cellular characterization of the prenatal Down syndrome and euploid brain.
From: Molecular cartography of the human down syndrome and trisomic mouse brain
a Schematic overview of the multi-omics approach utilizing single-nucleus (sn)RNA-seq and Slide-seq. b Uniform Manifold Approximation and Projection (UMAP) representation of all high-quality nuclei identified by snRNA-seq (n = 122,663). Each dot represents a nucleus. Cell type identity is delineated by the solid line. c Dotplot showing gene expression of canonical cell type markers used for cell type identification. Dot color represents normalized gene expression and dot diameter represents the proportion of nuclei expressing the gene. d–f UMAP representation of granular cell subtypes of d, neural progenitors, e, excitatory neurons, and f, interneurons. Nuclei are color-coded by their cell subtype identity. g Spatial representation of a representative Down syndrome (DS) brain and a magnified view of the ventricular zone, captured by Slide-seq. Each dot represents the cell type with the highest proportional representation on a given bead. Only neural progenitor cells (NPCs) are colored in the ventricular zone. h Spatial plots of genes used to delineate the ventricular zone and neocortex, including SOX2, VIM, MKI67, EOMES, DCX, MEF2C, SATB2, and TLE4. Dot color represents normalized gene expression from the 10th to 90th percentiles.
