An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene (original) (raw)
Figure 3
p.Val883Met is a gain-of-function mutation.
(A) Western blot analysis confirmed the comparable expression of HA-WT (WT) and HA-Val883Met (Mut). HEK293A cells were transfected with HA-WT or HA-Val883Met constructs, and lysates were harvested for Western blotting using anti-HA antibody. As an internal control, β-actin in each sample was detected with anti-β-actin antibody. (B) Increased cGMP production in the HEK293A cells transfected with the p.Val883Met mutant (Mut) compared to that in wild-type cells (WT). Forty-eight hours after the transfection, the cells were serum-starved for 24 h, and then treated with the indicated concentrations of CNP-22 for 10 min, before cGMP production was assayed. Results are presented as the mean ± SD (N = 3, *p<0.05).