Publication details
The Relationship between PAX9 Gene Mutations and Tooth Agenesis in Czech Population
| Authors | |
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| Year of publication | 2012 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Tooth development (odontogenesis) is a very complicated and complex process that involves interplay between oral ectoderm and mesenchyme. These interactions are mediated by more than 300 signaling molecules including Pax9, Msx1 and Axin2. Tooth agenesis is the most prevalent craniofacial congenital malformation in humans. Pax9 is a transcription factor that is named according to the presence of DNA binding “paired” domain. It interacts with Msx1 and mutations in PAX9 and MSX1 genes were associated with several type of tooth agenesis. The aim of this work was to study mutations of the first three exons sequences of PAX9 gene. DNA was isolated with UltraClean BloodSpin DNA Isolation Kit (Mo-Bio). Blood samples or buccal swabs from 200 Czech patients with various types of tooth agenesis were used for this purpose. Amplicons were sequenced with ABI 3130 Prism (Applied Biosystems). Finally, sequences were compared with standard sequences of PAX9 gene. Mutations were described according their possible effect to the protein structure. We identified novel PAX9 gene mutations that cause amino acid substitutions - P3T, S124G, D209Y, and may give rise to several type of tooth agenesis (hypodontia). Furthermore, there were found some introns mutations and no amino acid change mutations. The future research will be focused on family studies and relationship between mutations in PAX9 gene and tooth agenesis (hypodontia, oligodontia). |
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