Fig. 2: Large heterozygous segmental deletions do not result in global XCU in trans.
From: X-chromosome upregulation operates on a gene-by-gene basis at RNA and protein levels
a Schematic depiction of the XCU center hypothesis. Gray denotes an X chromosome that is not upregulated, while green indicates an upregulated X chromosome. b Schematic overview of the deletion cell lines used in the scRNA-seq experiment and their respective sex chromosome karyotypes. c Heatmap of all scRNA-seq data for X-linked genes, ordered by chromosomal position, grouped by cell line, and colored by log-transformed normalized expression values for each allele. The position of genes Tfe3, Zic3, Dusp9, and Nr0b1 are highlighted, as these genes denote the start and end positions of each deletion. d Schematic depiction of the XCU center hypothesis, such that deletion of a region of one X chromosome induces transcriptional upregulation for genes located outside of the deletion region in trans. e–g Violin plots separated by cell line showing the mean gene expression from the non-deleted allele for the genes located outside of the regions of Deletion 1 (e, Cast allele), Deletion 2 (f, Cast allele), and Deletion 3 (g, Mus allele). The dashed line indicates the mean value of XX cells, serving as a reference line for expected expression without upregulation. Each dot represents a cell. P-values calculated via the Tukey HSD test (two-sided, with Tukey–Kramer correction for multiple comparisons, ns not significant).
