Fig. 3
From: A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Functional analysis of wild-type and mutant RUNX2. a Quantification of RUNX2 mRNA expression levels revealed no significant difference (P = 0.6218) between the patient and her parents. b Western blot analysis of RUNX2 protein expression showed that transfection of the wild-type RUNX2 construct resulted in full-length RUNX2 protein production, whereas overexpression of mutant RUNX2 generated a truncated protein. GAPDH, 37 kDa. c COS7 cells were transfected with recombinant plasmids encoding the wild-type or mutant RUNX2 genes. Confocal micrographs showed the intracellular distributions of the wild-type and mutant RUNX2 proteins. d Molecular modeling performed using the I-TASSER server revealed that the mutant runt domain plays a critical role in the normal 3-dimensional structure of RUNX2, as indicated