Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia

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Authors

BONCZEK Ondřej ŠERÝ Omar HLOUŠKOVÁ Alena LOCHMAN Jan IZAKOVIČOVÁ HOLLÁ Lydie ŠOUKALOVÁ Jana ŠTEMBÍREK Jan MÍŠEK Ivan ČERNOCHOVÁ Pavlína KREJČÍ Přemysl VANĚK Jiří

Year of publication 2015
Type Conference abstract
MU Faculty or unit

Faculty of Science

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 350 signaling molecules including mainly transcription factors, growth factors, receptors etc. Synergistic and antagonistic interactions between these molecules may lead to their local activation or inhibition. The aim of our study was to investigate the relationship between PAX9 gene variants and tooth agenesis in the Czech population. The selected regions of PAX9 gene were analyzed by direct sequencing and compared with the reference sequence from the GenBank on-line database (NCBI). We found several novel variants in the PAX9 gene. The newly identified causative g.9527G gt;T mutation is located in intron 2, in the area recognized as the splicing site between exon 2 and intron 2 of the PAX9 gene. The other mutations in the PAX9 gene e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.5272C>G (rs4904155) in exon 1, and mutation g.10934C gt;T (Gly203Gly, rs61754301) in exon 3 seem to be polymorphisms in the Czech population. We also observed polymorphisms g.10276A gt;G (rs12882923) and g.10289A gt;G (rs12883049) in IVS2 (intervening sequence 2) previously related to tooth agenesis in Polish study (1, 2). We identified a novel g.9527G gt;T mutation in Czech monozygotic twins associated with oligodontia in a family comprising nine members.
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