Fig. 2

Dosage-sensitive genes PQBP1, HNRNPK and PAX6 products undergo phase separation. A Venn diagram among known phase-separating (PS) proteins from PhaSepDB, proteins with top 20% SaPS in the human proteome and known haploinsufficient (HI)/triplosensitivity (TS) gene products from ClinGen. B Phase diagrams of PQBP1, HNRNPK and PAX6 with different NaCl concentrations. Scale bars, 20 µm. C FRAP of the droplets formed in vitro by PQBP1 and HNRNPK in the presence of 150 mM NaCl, and PAX6 in the presence of 2 M NaCl. n = 3 biologically independent samples, data are presented as mean values ± SEM. D Confocal images of endogenous PQBP1 (HEK 293T cells), HNRNPK (HeLa cells), and PAX6 (HeLa cells) in wild-type cells. Cells were stained with antibodies of target proteins (green) and DAPI (blue). Scale bars, 5 µm