Table 2.
Summary of Phenotypes of CS Cells
|
Individual |
|||
|---|---|---|---|
| CS20LO | CS1USAU | XPCS1CD | |
| RRS | – | – | – |
| UDS | – | – | – |
| Virus complementation with ERCC1 wild-type cDNA (RRS)a | + | – | – |
| Virus complementation with ERCC4 wild-type cDNA (RRS)a | – | + | + |
| XPF expression | – | +/– | +/– |
| ERCC1 expression | – | +/– | +/– |
| Protein alteration | ERCC1 p.Phe231Leu | XPF p.Cys236Arg and p.Tyr577* | XPF p.Cys236Arg and p.Arg589Trp |
| ERCC1-XPF IP | + | + | + (p.Cys236Arg) |
| p89 IP | + | +/– | +/– (p.Cys236Arg) |
| Virus complementation with ERCC1 c.693C>G (p.Phe231Leu) cDNA (RRS)a | + | ND | ND |
| Virus complementation with ERCC4 c.706T>C (p.Cys236Arg) cDNA (RRS)a | ND | – | ND |
| ERCC1-XPF nuclease activity | ND | – (p.Cys236Arg) | – (p.Cys236Arg) |
| Mutant mRNA level | V low | +/– | ND |
Abbreviations are as follows: +, normal; –, defective or absent; +/–, intermediate; IP, immunoprecipitation; ND, not done.
a
Effect of the indicated cDNA on the RRS response.