Vztah mezi mutacemi v genech pro MSX1 a PAX9 a agenezemi zubů v české populaci
| Title in English | The Relationship between MSX1 Gene Mutations and Tooth Agenesis in Czech Population |
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| Authors | |
| Year of publication | 2013 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Reduced number of teeth (hypodontia) is the most prevalent familial malformation of human dentition. Tooth development (odontogenesis) is a very complicated and complex process that involves interplay between oral ectoderm and neural crest derived mesenchyme cell. These reciprocal interactions are mediated by more than 300 signaling molecules including Pax9, Msx1 and Axin2. Mutations in the genes for these three proteins were associated with isolated (non-syndromic) form of hypodontia. Msx1 (member of muscle segment genes family) is a transcriptional factor containing DNA-binding homeodomain that is able to interact with other members of transcriptional complex including Pax9 (Paired box 9). Their expressions were observed only in dental mesenchyme. The aim of this work was to study the both exons sequences of MSX1 and PAX9 genes. DNA from patients 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. PCR products for exons of MSX1 gene were prepared using Kapa 2G Robust Hot Start polymerase (Kapa Biosystems) because of the high content of GC bases in the gene sequence. Amplicons were sequenced with ABI 3130 Prism (Life Technologies). Finally, sequences were compared with standard sequences of the genes and mutations were described according their possible effect to the protein structure. We identified novel heterozygous MSX1 gene polymorphism that may cause amino acid substitutions Ala40Gly. This mutation was found in group of patients and also in control group. Furthermore, there were found some introns mutations and no amino acid change mutation in MSX1 and PAX9 genes. These changes in nucleotide structure of gene have no direct effect on protein structure but they could involve stability and regulations of gene expression. |
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