Fig. 7
From: Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis
Exploring the pathogenic mechanism of KIF3C and ZNF513. a, b ChIP-qPCR and agarose electrophoresis of NHGFs and patient’s gingival tumor fibroblasts showed that ZNF513 binds to the promoter of SOS1. N-SOS1 and P-SOS1 indicate experiment groups in NHGFs and in patient’s gingival tumor fibroblasts, respectively. c Compared with normal gingiva and patient’s normal gingiva, the expression of SOS1 in the patient’s gingival tumor tissue was significantly higher. d The expression of Sos1 increased in the maxillary gingiva of 6-month-old male mice with Zfp513 mutation. e The expression of SOS1 in the ZNF513 knockout HGF cell line decreased significantly, while in the HGF-mZNF513 cell line, the mRNA level increased significantly. f, g The mRNA expression of KCNQ1, PIK3CA, and PIK3CB in the gingival tumor tissue of the patient was significantly higher. h, i The expression of KCNQ1, PIK3CA, and PIK3CB decreased significantly in the KIF3C knockout HGF cell line but increased in the HGF-mKIF3C cell line. 1 = Kif3c+/+/Zfp513+/+ mice; 2 = Kif3c+/+/Zfp513+/R250W mice; 3 = Kif3c+/+/Zfp513R250W/R250W mice; NC = NHGFs
