Fig. 2: Effects of PANX1 pathogenic variants on glycosylation and channel properties.
From: Homozygous variants in PANX1 cause human oocyte death and female infertility
A Western blot analysis of HeLa cell extracts after transfection with WT or mutant PANX1 constructs. The positions of full-length bands are shown on the right. Vinculin was used as the loading control (bottom). B The ratio of GLY2 to GLY1 of PANX1. The GLY2/GLY1 of the variant p.(Arg300Gln) was significantly reduced compared with WT. Three independent experiments were performed. ***P < 0.001. C Average I–V (current voltage) curves from X. laevis oocytes expressing WT or mutant PANX1 (p.(Ser238Pro), p.(Arg300Gln), and p.(Cys347Ser). The voltage steps ranged from −100 mV to +60 mV in 20 mV increments. Data are shown as the means ± SD of four to five oocytes. D Resting membrane potentials in X. laevis oocytes after expression of WT or mutant PANX1. Data are shown as the means ± SD of four to five oocytes. ***P < 0.001. E Maximum currents in X. laevis oocytes after expression of WT or mutant PANX1. Data are shown as the means ± SD of four to five oocytes. ***P < 0.001.
