Figure 1.

Changes in Xi and Chr Y dosage alter expression of X and Y chromosome genes

(A) Experimental design for analysis of primary CD4⁺ T cells and monocytes from individuals with varying numbers of sex chromosomes.

(B) Chr X and Chr Y dosage series in CD4⁺ T cells and monocytes.

(C) Schematic of Chr X and Chr Y, indicating locations of pseudoautosomal regions (PAR) in green, non-PAR X (NPX) in orange, NPX genes with NPY homologs in blue, and NPY genes in black.

(D–G) Normalized read counts (x1,000) by sex chromosome dosage for XIST (D), the PAR gene AKAP17A (E), the NPX-NPY homologous pair KDM6A and UTY (F), or the non-Xi- or Chr Y-responsive SLC10A3 (G) in CD4⁺ T cells. Regression lines with confidence intervals are shown.

(H and I) Volcano plot of ΔE_X values for all expressed NPX and PAR genes (H) or ΔE_Y values of all expressed NPY genes in CD4⁺ T cells (I). Dotted horizontal lines indicate adjusted p < 0.05. In (H), genes are annotated by class: PAR genes in green, NPX genes with NPY homologs in blue, and NPX genes with no NPY homolog in orange.