Mutations in recombined Sμ-Sα fragments
| Patients | Number of mutations | Total number of mutations | Number of bp sequenced | Frequency (per 1,000 bp) | ||
| AT vs. GC mutations | Transitions | In RGYW/WRCY motifs | ||||
| Close to the junction (±15 bp) | ||||||
| Cernunnos−/− | 8 vs. 6 (57 vs. 43%)* | 6 (43%) | 9 (64%) | 14 | 2,520 | 5.6** |
| Artemis−/− | 8 vs. 1 (89 vs. 11%)*** | 5 (56%) | 5 (56%) | 9 | 1,620 | 5.6* |
| Controls (1–6 yr) | 13 vs. 38 (25 vs. 75%) | 27 (53%) | 28 (55%) | 51 | 4,110 | 12.4 |
| Lig4−/− | 1 vs. 5 (17 vs. 83%) | 2 (33%) | 5 (83%) | 6 | 900 | 6.7 |
| ATM−/− | 1 vs. 5 (17 vs. 83%) | 1 (17%) | 4 (67%) | 6 | 1,320 | 4.5** |
| Controls (adults) | 11 vs. 56 (16 vs. 84%) | 30 (45%) | 53 (79%) | 67 | 4,590 | 14.6 |
| Within Sμ (>15 bp upstream of the junction) | ||||||
| Cernunnos−/− | 36 vs. 28 (56 vs. 44%)*** | 52 (81%)* | 30 (47%)*** | 64 | 23,364 | 2.7*** |
| Artemis−/− | 38 vs. 28 (58 vs. 42%)*** | 43 (65%) | 37 (56%)* | 66 | 15,508 | 4.3 |
| Controls (1–6 yr) | 42 vs. 59 (30 vs. 70%) | 95 (67%) | 101 (72%) | 141 | 26,569 | 5.3 |
| Lig4−/− | 10 vs. 8 (56 vs. 44%) | 14 (78%) | 13 (72%) | 18 | 9,749 | 1.8*** |
| ATM−/− | 20 vs. 16 (56 vs. 44%)* | 31 (86%)** | 24 (67%) | 36 | 11,993 | 3.0** |
| Controls (adults) | 62 vs. 105 (37 vs. 63%) | 99 (59%) | 117 (70%) | 167 | 31,502 | 5.3 |
| Patients | Number of mutations | Total number of mutations | Number of bp sequenced | Frequency (per 1,000 bp) | ||
| AT vs. GC mutations | Transitions | In RGYW/WRCY motifs | ||||
| Close to the junction (±15 bp) | ||||||
| Cernunnos−/− | 8 vs. 6 (57 vs. 43%)* | 6 (43%) | 9 (64%) | 14 | 2,520 | 5.6** |
| Artemis−/− | 8 vs. 1 (89 vs. 11%)*** | 5 (56%) | 5 (56%) | 9 | 1,620 | 5.6* |
| Controls (1–6 yr) | 13 vs. 38 (25 vs. 75%) | 27 (53%) | 28 (55%) | 51 | 4,110 | 12.4 |
| Lig4−/− | 1 vs. 5 (17 vs. 83%) | 2 (33%) | 5 (83%) | 6 | 900 | 6.7 |
| ATM−/− | 1 vs. 5 (17 vs. 83%) | 1 (17%) | 4 (67%) | 6 | 1,320 | 4.5** |
| Controls (adults) | 11 vs. 56 (16 vs. 84%) | 30 (45%) | 53 (79%) | 67 | 4,590 | 14.6 |
| Within Sμ (>15 bp upstream of the junction) | ||||||
| Cernunnos−/− | 36 vs. 28 (56 vs. 44%)*** | 52 (81%)* | 30 (47%)*** | 64 | 23,364 | 2.7*** |
| Artemis−/− | 38 vs. 28 (58 vs. 42%)*** | 43 (65%) | 37 (56%)* | 66 | 15,508 | 4.3 |
| Controls (1–6 yr) | 42 vs. 59 (30 vs. 70%) | 95 (67%) | 101 (72%) | 141 | 26,569 | 5.3 |
| Lig4−/− | 10 vs. 8 (56 vs. 44%) | 14 (78%) | 13 (72%) | 18 | 9,749 | 1.8*** |
| ATM−/− | 20 vs. 16 (56 vs. 44%)* | 31 (86%)** | 24 (67%) | 36 | 11,993 | 3.0** |
| Controls (adults) | 62 vs. 105 (37 vs. 63%) | 99 (59%) | 117 (70%) | 167 | 31,502 | 5.3 |
The mutation patterns from Cernunnos- or Artemis-deficient patients were compared with those from control children (1–6 yr of age), whereas the mutation patterns from Lig4- or ATM-deficient patients were compared with adult controls (Pan-Hammarström et al., 2003). Statistical analysis was performed using the χ2 test (*, P < 0.05; **, P < 0.01; ***, P < 0.001).