Fig. 5: X-reactivation impacts on phenotype dimorphism of OS.
a Bar plot showing the ratio for the observed relative to the expected overlap of reactivated, full escape and late-silenced genes with high-confidence NDD genes. For reactivated genes, an intriguing accumulation of NDD genes was observed (1.43 times more than expected; P = 6.72 × 10−3). P-values were determined by the cumulative distribution function. b Immunostaining of organoid sections of the different experimental lines showing SOX2 (white) and MAP2 (magenta). Scale bars = 500 µm. c Box and jitter plots showing the quantification of the fraction of MAP2 in neural tissue (SOX2 + MAP2+ area) on d30 (M-ctrl, n = 36; M-OS/het, n = 39; M-OS/male, n = 34; M-OS/maleR, n = 25; J-ctrl, n = 9; J-OS/het, n = 13; J-OS/hom, n = 13; exact P values (top to bottom): 0.03, 9.7 × 10−13, 2.4 × 10−9, <2.2 × 10−16, 8.1 × 10−9, 7.9 × 10−4, 4.0 × 10−6, 4.3 × 10−3). d Box and jitter plots showing the quantification of the fraction of MAP2 in neural tissue (SOX2 + MAP2+ area) on d30 in the XIST expressing A-lines (A-ctrl, n = 15; A-OS/het, n = 29; A-OS/hom, n = 28; exact P values (top to bottom): 0.035, 8 × 10−5, 0.032). For c, d boxplots show median, quartiles (box), and range (whiskers). In the jitter plots dots represent individual organoids. Two-sided Wilcoxon rank sum test; *P < 0.05, **P < 0.01, ***P < 0.001, ns P > 0.05. e Allele-specific RT-PCR revealing reactivation (*) of the inactive MID1 allele in brain organoids derived from the M-lines. f Reactivation (*) of the inactive MID1 allele in brain organoids derived from the J-lines as revealed by allele-specific RT-PCR. g Reactivation (*) of the inactive MID1 allele in brain organoids derived from the A-liness as revealed by allele-specific RT-PCR. Source data are provided as a Source Data file.
