| Products/Services Used | Details | Operation |
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| Gene Synthesis | Wild type (WT) human RUNX2 cloned into the eukaryotic expression vector pcDNA3.1(+) was provided by GenScript and used as a template for mutagenesis. Two mutants were generated using the QuikChange Lightning Site-Directed Mutagenesis Kit (STRATAGENE). One of them recreated the mutation found in the proband (c.532C>T resulting in p.Q178X change), and the other one was the previously described mutation (c.391C>G resulting in p.R131G change) that served as a positive control [Kim et al., 2006; Han et al., 2010]. The results of mutagenesis were confirmed by sequencing. | Get A Quote |
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder linked to mutations in the Runt-related transcription factor 2, encoded by the RUNX2 gene, which is essential for osteoblast differentiation and skeletal development. Here, we describe a novel nonsense mutation (c.532C>T; p.Q178X) in RUNX2 identified in 3 affected members of a Polish family with CCD. The localization and transcriptional transactivation studies show that the mutated form of the protein has altered the subcellular localization and significantly decreased transactivation properties, respectively. Consequently, our data show that the c.532C>T mutation generates a defective RUNX2 protein and is genetically linked to the CCD phenotyp... More
