The G1073S variant disrupts the function of the FHH Shroom3 gene. (A) Schematic of the different recombinant Shroom3 cDNAs, where a specific region of the BN Shroom3 sequence was replaced by FHH. (B) Co-injection of shroom3 + tp53 MO with Shroom3∆641–3044 or Shroom3∆4117–5966 mRNA, but not Shroom3∆3044–4117 mRNA, rescued dextran leakage induced by the MO (n = 23, 9, 18, 28, and 15, respectively). (C) Schematic of Shroom3 single-amino acid mutants created by site-directed mutagenesis. (D) Co-injection of ∆Y1291C or ∆A1356V restored normal glomerular permeability, while ∆G1073S failed to exhibit functional rescue (n = 17, 12, 17, 23, and 21, respectively). (*) P < 0.05, (**) P < 0.001 vs. uninjected.
