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Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population
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SYSNO ASEP 0457793 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population Author(s) Hloušková, A. (CZ)
Bonczek, Ondřej (UZFG-Y)
Izakovičová Hollá, L. (CZ)
Lochman, J. (CZ)
Šoukalová, J. (CZ)
Štembírek, Jan (UZFG-Y) ORCID
Míšek, Ivan (UZFG-Y)
Černochová, P. (CZ)
Krejčí, P. (CZ)
Vaněk, J. (CZ)
Šerý, Omar (UZFG-Y) RIDSource Title Neuroendocrinology Letters - ISSN 0172-780X
Roč. 36, č. 5 (2015), s. 101-106Number of pages 6 s. Publication form Print - P Language eng - English Country SE - Sweden Keywords odontogenesis ; tooth agenesis ; PAX9 gene Subject RIV FF - HEENT, Dentistry R&D Projects NT11420 GA MZd - Ministry of Health (MZ) Institutional support UZFG-Y - RVO:67985904 UT WOS 000368824900011 Annotation OBJECTIVES: Tooth agenesis is one of the most common developmental anomalies in humans. Genetic and environmental factors may be of etiological importance in this condition. Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis. The aim of our study was to investigate the relationship between the PAX9 gene variants and tooth agenesis in the Czech population.
METHODS: The selected regions of the PAX9 gene were analysed by direct sequencing and compared with the reference sequence from the GenBank online database (NCBI).
RESULTS: We found several novel variants 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>T (Gly203Gly, rs61754301) in exon 3. In subjects with full dentition we observed polymorphisms g.10276A>G (rs12882923) and g.10289A>G (rs12883049) in IVS2 (intervening sequence 2) previously related to tooth agenesis in Polish study.
CONCLUSIONS: In our study we excluded a direct effect of rs12882923 and rs12883049 polymorphisms on the dental agenesis in the Czech population. All described PAX9 genetic variants were present both in patients with tooth agenesis and controls. We expect that tooth agenesis in our cohort of patients is caused by mutations in regions different from PAX9 exons analyzed in our study.Workplace Institute of Animal Physiology and Genetics Contact Jana Zásmětová, knihovna@iapg.cas.cz, Tel.: 315 639 554 Year of Publishing 2016
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