Figure 5.

Sex-chromosome abnormalities in the DO. (A) LRR on chromosome X for (top to bottom): an XX female, an XO female, and four XY males. Black points indicate heterozygous genotype calls and gray points homozygous calls. Dotted horizontal line indicates mean LRR for each sample excluding the PAR, whose boundary is indicated by the dashed vertical lines. (B) Zoomed-in views of the distal end of chromosome X. Dashed vertical lines indicate the position of the PAR boundary in CAST/EiJ (left) and all other strains (right). Males with duplicated distal regions of the X chromosome, in the bottom two rows, have heterozygous genotypes and elevated hybridization intensity outside of the PAR. (C) Distribution of normalized hybridization intensity on chromosomes X (pink) and Y (blue) clearly differentiates karyotypes XX, XO, and XY. Panels are labeled with sample names and colored by sex-chromosome assignment: pink, XX; gray, XO; and blue, XY. chr, chromosome; DO, Diversity Outbred; LRR, Log-scale normalized hybridization intensity; PAR, pseudoautosomal region.