Characterization of Sμ-Sα and Sμ-Sγ junctions
| Patients | Perfectly matched short homology | Total number of S fragments | |||||
| 0 bp | 1–3 bp | 4–6 bp | 7–9 bp | ≥10 bp | |||
| 1-bp insertions | No insertions | ||||||
| Sμ-Sα | |||||||
| Cernunnos−/− | 16 (19%) | 2 (2%)*** | 7 (8%)* | 12 (14%) | 12 (14%) | 35 (42%)*** | 84 |
| Artemis−/− | 6 (11%)* | 0 (0%)** | 10 (19%) | 8 (15%) | 9 (17%) | 21 (39%)*** | 54 |
| Controls (1–6 yr) | 34 (25%) | 24 (18%) | 25 (18%) | 21 (15%) | 11 (8%) | 22 (16%) | 137 |
| Lig4−/− | 1 (3%)** | 0 (0%)*** | 7 (23%) | 4 (13%) | 4 (13%) | 14 (47%)*** | 30 |
| ATM−/− | 1 (2%)*** | 1 (2%)** | 15 (34%) | 9 (20%) | 5 (11%) | 13 (30%)*** | 44 |
| Controls (adults) | 39 (25%) | 28 (18%) | 56 (36%) | 15 (10%) | 11 (7%) | 5 (3%) | 154 |
| Sμ-Sγ | |||||||
| Cernunnos−/− | 2 (33%)a | 0 (0%) | 2(33%) | 2 (33%) | 0 (0%) | 0 (0%) | 6 |
| Artemis−/− | 4 (17%) | 5 (21%) | 14 (58%) | 1 (4%) | 0 (0%) | 0 (0%) | 24 |
| Controls (1–6 yr) | 9 (16%) | 13 (22%) | 26 (45%) | 10 (17%) | 0 (0%) | 0 (0%) | 58 |
| Lig4−/− | 11 (32%)* | 4 (12%) | 15 (44%) | 4 (12%) | 0 (0%) | 0 (0%) | 34 |
| ATM−/− | 3 (8%) | 3 (8%) | 23 (61%) | 7 (18%)* | 2 (5%) | 0 (0%) | 38 |
| Controls (adults) | 7 (12%) | 12 (20%) | 37 (63%) | 3 (5%) | 0 (0%) | 0 (0%) | 59 |
| Patients | Perfectly matched short homology | Total number of S fragments | |||||
| 0 bp | 1–3 bp | 4–6 bp | 7–9 bp | ≥10 bp | |||
| 1-bp insertions | No insertions | ||||||
| Sμ-Sα | |||||||
| Cernunnos−/− | 16 (19%) | 2 (2%)*** | 7 (8%)* | 12 (14%) | 12 (14%) | 35 (42%)*** | 84 |
| Artemis−/− | 6 (11%)* | 0 (0%)** | 10 (19%) | 8 (15%) | 9 (17%) | 21 (39%)*** | 54 |
| Controls (1–6 yr) | 34 (25%) | 24 (18%) | 25 (18%) | 21 (15%) | 11 (8%) | 22 (16%) | 137 |
| Lig4−/− | 1 (3%)** | 0 (0%)*** | 7 (23%) | 4 (13%) | 4 (13%) | 14 (47%)*** | 30 |
| ATM−/− | 1 (2%)*** | 1 (2%)** | 15 (34%) | 9 (20%) | 5 (11%) | 13 (30%)*** | 44 |
| Controls (adults) | 39 (25%) | 28 (18%) | 56 (36%) | 15 (10%) | 11 (7%) | 5 (3%) | 154 |
| Sμ-Sγ | |||||||
| Cernunnos−/− | 2 (33%)a | 0 (0%) | 2(33%) | 2 (33%) | 0 (0%) | 0 (0%) | 6 |
| Artemis−/− | 4 (17%) | 5 (21%) | 14 (58%) | 1 (4%) | 0 (0%) | 0 (0%) | 24 |
| Controls (1–6 yr) | 9 (16%) | 13 (22%) | 26 (45%) | 10 (17%) | 0 (0%) | 0 (0%) | 58 |
| Lig4−/− | 11 (32%)* | 4 (12%) | 15 (44%) | 4 (12%) | 0 (0%) | 0 (0%) | 34 |
| ATM−/− | 3 (8%) | 3 (8%) | 23 (61%) | 7 (18%)* | 2 (5%) | 0 (0%) | 38 |
| Controls (adults) | 7 (12%) | 12 (20%) | 37 (63%) | 3 (5%) | 0 (0%) | 0 (0%) | 59 |
The switch junctions from Cernunnos- or Artemis-deficient patients were compared with those from control children (1–6 yr of age), whereas the switch junctions from Lig4- or ATM-deficient patients were compared with adult controls. Statistical analysis was performed using the χ2 test (*, P < 0.05; **, P < 0.01; ***, P < 0.001). The data from Artemis-, Lig4-, and ATM-deficient patients and controls have been described previously (Pan et al., 2002; Pan-Hammarström et al., 2005; Du et al., 2008).
One Sμ-Sγ junction from Cernunnos-deficient cells showed a 3-bp insertion at the junction.