Fig. 5

Assessing pathogenicity of fibroblasts derived from individual 106 with RAD54L2 VUS. A,B Clonogenic survival assay of patient fibroblasts upon treatment with the indicated doses of etoposide (A) or X-ray irradiation (B). C Number of γH2AX foci in G1 cells (cyclin A negative) untreated or treated with 30 μM etoposide (ETP) for 30 min, washed, and left to recover for 4 or 8 h. n = 3 independent experiments. Bars represent means ± SEM. D Number of γH2AX foci in G1 cells (cyclin A negative) untreated or irradiated with 2 Gy X-rays and left to recover for 30 min, 4 or 8 h. n = 4 independent experiments. Bars represent means ± SEM. Statistics were calculated using 2-way ANOVA and Turkey’s multiple compairsons test. E Showing conservation of RAD54L2 amongst species. RAD54L2 homologs were identified in about 1000 different species and pairwise aligned to the human sequence. As a measure for conservation, the number of sequences with the most frequently found amino acid (upper panel) and the number of sequences contacting a gap (middle panel) are determined per sequence position. The detailed frequencies are shown for the region containing Q130 (lower panel)