Table.
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 |
AD, autosomal-dominant; AR, autosomal-recessive; I.P., incomplete penetrance.
Tooth phenotype: showed average number of missing teeth, and the number in parentheses excludes third molars.
“Synerg, Bmp4” represents synergism with Pax9 on the Bmp4 promoter, and “Synerg, Msx1” represents synergism with Pax9 on the Msx1 promoter.