Figure 4 | Scientific Reports

Figure 4

From: A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

Figure 4

The p.Asp411Gly EGR2 variant decreases transcriptional activation. Wild-type and p.Asp411Gly EGR2 were evaluated for regulatory activity on a previously reported EGR2 response element at the PMP22 locus. Constructs (conditions indicated along the bottom) were transfected into cultured Schwann (S16) cells and tested for activity in luciferase assays normalized to an empty vector containing no genomic insert (far left column). Wild-type EGR2 and p.Asp411Gly EGR2 were each tested using two independently generated expression constructs (A and B) and each condition was tested in at least 24 biological replicates. The fold induction of Fluc activity is indicated along the y-axis and error bars indicate standard deviations. Statistical significance (p-value) was assessed using a two-tailed Student’s T-test.

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