Figure 6.

Functional evaluation of SAMD9L mutations. (A,B) The effect of SAMD9L mutations on cell proliferation was assessed by dye dilution assays. 293FT cells were transiently transfected with TFP-SAMD9L wild type (WT), the disease-associated mutations p.R986C and p.V1512M, and the protective variant p.T233N previously reported by Tesi et al.²⁰ (A) Histograms depict the dye levels in transfected cells. Dye levels were monitored in TFP-transfected cells (filled gray histograms) and compared to cells expressing uniformly intermediate levels of TFP-SAMD9L wild-type (blue histograms) or variants (red/orange lines), as indicated. A single representative experiment is shown. (B) Cumulative summary of three independent experiments on inhibition of cell proliferation associated with indicated TFP-SAMD9L mutations. Values (mean ± SD) are calculated based on a scale defined by 0 (dye levels in TFP-transfected cells) and −1 (dye levels in cells transfected with TFP-SAMD9L wild-type). Unpaired t-test, two tailed: *P<0.05; ** P<0.005; ***P<0.001.