Figure 2.

DNA repair defect in patient’s cells. (A) Survival of SV40-transformed and EBV B cell lines from the patient and appropriate negative controls upon treatment with increasing doses of various genotoxic agents. These experiments were performed between one and four times depending on the drug. PARPi, poly–ADP-ribose polymerase inhibitor. MMS, methyl methanesulfonate. ATR, AT and rad3-related protein. (B) Kinetics of irradiation-induced 53BP1 foci formation in primary fibroblasts from the patient, a healthy control, and a Cernunnos-mutated patient. A representative image of cells treated with 2 Gy IR and quantification of IRIF is shown. Data are mean ± SD. ****, P < 0.0001 for a Mann-Whitney test. This experiment was performed two times. Bar, 10 µm. Ctrl, control. Cernu, Cernunnos.