Figure 3
From: Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature
Functional characterization of the CNP variants. Analysis of the capacity of CNP wild type or the two mutants to activate NPR-B-mediated cGMP synthesis. cGMP activity of COS-7 cells transfected with NPR-B wild type (+) or empty (−), together with CNP wild type (WT) or mutants p.Arg117Gly (R117G) or p.Gly119Cys (G119C) and a 1:1 ratio of CNP wild type and each mutant was measured. cGMP values are expressed as a percentage relative to CNP/NPR-B-stimulated WT +/− SD. Each construct combination was transfected in triplicate, and each transfection was assayed in triplicate. Three biological replicates were performed. Thus, the statistics was determined for 27 ELISA assay results per construct combination. *P < 0.01. Both mutants showed a drastic reduction in CNP-dependent cGMP synthesis in the heterozygous state and total ablation in the homozygous state.
