| Study subjects . | Perfectly matched short homology . | No. of junctions . | |||
|---|---|---|---|---|---|
| . | 0 bp . | . | . | . | |
| . | Direct end-joining . | Small insertions . | 1–6 bp . | ≥7 bp . | . |
| Sµ-Sα | |||||
| ICF2-deficienta | 4 (5)*↓ | 11 (13)*↓ | 34 (42) | 33 (40)**↑ | 82 |
| Lig4-deficientb | 1 (3) | 0 (0)**↓ | 11 (37) | 18 (60)****↑ | 30 |
| Artemis-deficientc | 0 (0)**↓ | 6 (11)*↓ | 18 (33) | 30 (56)****↑ | 54 |
| Controls (1–13 yr)d | 34 (16) | 52 (24) | 77 (36) | 50 (24) | 213 |
| Sµ-Sγ | |||||
| ICF2-deficienta | 9 (20) | 3 (7) | 34 (74) | 0 (0) | 46 |
| Lig4-deficientb | 4 (12) | 11 (32) | 19 (56) | 0 (0) | 34 |
| Artemis-deficientc | 5 (21) | 4 (17) | 15 (63) | 0 (0) | 24 |
| Controls (1–6 yr)e | 13 (22) | 9 (16) | 36 (62) | 0 (0) | 58 |
| Study subjects . | Perfectly matched short homology . | No. of junctions . | |||
|---|---|---|---|---|---|
| . | 0 bp . | . | . | . | |
| . | Direct end-joining . | Small insertions . | 1–6 bp . | ≥7 bp . | . |
| Sµ-Sα | |||||
| ICF2-deficienta | 4 (5)*↓ | 11 (13)*↓ | 34 (42) | 33 (40)**↑ | 82 |
| Lig4-deficientb | 1 (3) | 0 (0)**↓ | 11 (37) | 18 (60)****↑ | 30 |
| Artemis-deficientc | 0 (0)**↓ | 6 (11)*↓ | 18 (33) | 30 (56)****↑ | 54 |
| Controls (1–13 yr)d | 34 (16) | 52 (24) | 77 (36) | 50 (24) | 213 |
| Sµ-Sγ | |||||
| ICF2-deficienta | 9 (20) | 3 (7) | 34 (74) | 0 (0) | 46 |
| Lig4-deficientb | 4 (12) | 11 (32) | 19 (56) | 0 (0) | 34 |
| Artemis-deficientc | 5 (21) | 4 (17) | 15 (63) | 0 (0) | 24 |
| Controls (1–6 yr)e | 13 (22) | 9 (16) | 36 (62) | 0 (0) | 58 |
Data are n (%). Statistical analysis was performed by χ2 test. *, P < 0.05; **, P < 0.01; ***, P < 0.001; ****, P < 0.0001.
The sequences of Sµ-Sα and Sµ-Sγ junctions are available in Data S1 and Data S2, respectively.
Previously published CSR junctions from Lig4-deficient patients (Pan-Hammarström et al., 2005).
Previously published CSR junctions from Artemis-deficient patients (Du et al., 2008).
Newly acquired and previously published Sµ-Sα junctions from children controls (Du et al., 2008; Enervald et al., 2013).
Previously published Sµ-Sγ junctions from children controls (Du et al., 2008).