Table 1.
Phenotypes associated with the deletion of individual shelterin components
| Telomere fusions |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| DDR |
Endoredu- plication |
Chromosome- type |
Chromatid-type Leading Lagging |
3’ over- hang |
Fragile telomeres |
T-SCEs (in Ku null) |
||||
| Gene | viable | ATR | ATM | |||||||
| POT1a | − | + | − | + | + | + | + | − | − | − |
| POT1b | + | − | − | − | − | − | − | + | − | − |
| POT1a/b | − | ++ | − | ++ | + | + | + | + | − | + |
| TPP1 | − | ++ | − | ++ | + | + | + | + | − | n.t. |
| TIN2 | − | ++ | + | ++ | + | + | + | + | − | ? |
| TRF1 | − | +a | − | + | − | − | − | − | + | n.t. |
| TRF2 | − | − | ++ | + | ++ | +b | − | − | − | + |
| Rap1 | + | − | − | − | − | − | − | − | − | + |
a
ATR signaling requires progression through S phase
b
Leading-end chromatid fusions occur only in absence of MRN or ATM.