Table.
Synopsis of the Characteristic Phenotypical and Functional Features of Wild-type Msx1 and Tooth-agenesis-causing Msx1 Mutants
| Wild-type | M61K | A194V | R196P | A219T | A221E | |
|---|---|---|---|---|---|---|
| Inheritance | ADa | AD/I.P.a | AD | ARa | AD | |
| Tooth phenotypeb | 12 (8) | 14 (10) | 11 (7) | 18 (15.5) | 12 (8) | |
| Localization | Nuclear | Nuclear | Nuclear | Nucl clump | Nuclear | Nuclear |
| Co-IP | + | + | + | + | + | + |
| Half-life | +++ | ++ | +++ | + | + | +++ |
| Synerg, Bmp4c | Less | Slightly up | Like WT | Less | More | |
| Synerg, Msx1c | Like WT | Slightly up | Slightly up | Repressed | Slightly up | |
| DNA-binding | More | Like WT | None | None | Like WT | |
| Reference | Lidral and Reising, 2002 | Mostowska et al., 2006 | Vastardis et al., 1996 | Chishti et al., 2006 | Xuan et al., 2008 |
a
AD, autosomal-dominant; AR, autosomal-recessive; I.P., incomplete penetrance.
b
Tooth phenotype: showed average number of missing teeth, and the number in parentheses excludes third molars.
c
“Synerg, Bmp4” represents synergism with Pax9 on the Bmp4 promoter, and “Synerg, Msx1” represents synergism with Pax9 on the Msx1 promoter.