Characterization of 47,XYY JS iPSCs. (A) Schematic of the 11 47,XYY iPSC clones generated in this study. (B) Representative DNA-FISH images of X Chromosome (green) and Y Chromosome (red) in JS iPSCs. DNA was stained with DAPI (blue). Scale bar, 5 µm. (C) KaryoStat+ whole-genome view. The whole-genome view displays all somatic and sex chromosomes in one frame with a high-level copy number. The smooth signal plot (right y-axis) is the smoothing of the log2 ratios, which depict the signal intensities of probes on the microarray. The pink, green, and yellow colors indicate the raw signal for each chromosome probe, and the blue represents the normalized probe signal, which is used to identify copy numbers and aberrations. Black arrows indicate the gain of an additional Y Chromosome. (D) Scatter plot profiles of coupled WES analysis and allele-specific RNA-seq analysis performed on autosomal (upper panel) and sex chromosomes. The X Chromosomes are highlighted in the lower panel. Plots show the mono- (orange dots) or biallelic (light blue dots) gene expression status in two representative karyotypes (46,XY and 47,XYY). Gray rectangles indicate PAR1 and PAR2 regions, respectively. Solid dots indicate non-PAR genes; open dots show PAR genes. The scatter plot of iPSC clone JS2#A assigns a biallelic SNP to NUDT10. See the Methods section.
