Fig. 3

LoF mutations in dosage-sensitive genes destabilize condensate activity in cell. A Screening process for disease-associated mutations in haploinsufficient genes in ClinVar database. B, C Confocal images of endogenous SOX2 or PAX6 in wild-type (WT) cells and knockdown (KD) cells with heterozygous deletion of SOX2 (HEK 293T cells) or PAX6 (HeLa cells). Cells were stained with SOX2 antibody (red), PAX6 antibody (green) and DAPI (blue). Scale bar, 5 µm. D, E Comparison of fluorescence intensity puncta per cell, number of puncta per cell and fluorescence intensity of puncta/mean fluorescence intensity per cell between wild-type (WT) cells and knockdown (KD) cells. P-value was calculated with the two-sided Mann–Whitney U test. F, G Curve of the mean fluorescence intensity of mCherry-PQBP1 (F) (n = 509)/mCherry-PQBP1-∆IDR (G) (n = 69) versus fluorescence intensity of puncta per cell. All images are quantified with the same optical settings. The coefficient is represented with the Spearman correlation coefficient. P-value was calculated with Spearman’s rank correlation test