Research Article

Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome

Figure 3

Defective expression of the mutant SEMA3A proteins in vitro. (a) The intracellular SEMA3A production of COS-7 cells transfected with the pcDNA3.1-SEMA3A-Mu decreased by about 30% compared with that of cells transfected with pcDNA3.1-SEMA3A-WT through western blot. Since SEMA3A was also slightly expressed in kidney cells, the EV group also showed a low level of expression. (b) The ELISA results showed that the protein level of the mutant SEMA3A in the condition medium from COS-7 cells was significantly lower than that of the wild-type SEMA3A by about 80%. Each experiment was carried out at least three times independently. A repeated-measure ANOVA followed by Bonferroni post hoc tests or unpaired two-tail Student’s t-test was used.  < .01. EV: empty vector; WT: wild-type; Mu: variant.