Fig. 2

Single-cell analysis of Klinefelter testicular tissue and comparison with normal human testis transcriptome. a t-SNE plot showing the clustering of the different testicular cell types present in a Klinefelter sample. b Expression profiles of specific testicular cell marker genes in the different cell clusters identified in a. c t-SNE plot of germ cells from the Klinefelter patients and three men with full spermatogenesis (data obtained from [25]) clustered together. Relative expression of representative genes of germ cell differentiation stages are projected onto the t-SNE plot (d). Increased expression levels are depicted by increased red colour intensity. Upper panel represents spermatogonial (FGFR3 and RHOXF1) and pan-germ cell marker VASA/DDX4, middle panel shows meiotic markers, and lower panel represents spermatid markers. Mf macrophages, EC endothelial cells, Spg spermatogonia, avg. exp. scale average expression scale, pct. exp percentage of cells expressing the marker