Novel PAX9 gene mutation in Czech monozygotic twins with
oligodontia

a 2015

Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia

BONCZEK, Ondřej, Omar ŠERÝ, Alena HLOUŠKOVÁ, Jan LOCHMAN, Lydie IZAKOVIČOVÁ HOLLÁ et. al.

Základní údaje

Originální název

Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia

Autoři

BONCZEK, Ondřej (203 Česká republika, domácí), Omar ŠERÝ (203 Česká republika, garant, domácí), Alena HLOUŠKOVÁ (203 Česká republika, domácí), Jan LOCHMAN (203 Česká republika, domácí), Lydie IZAKOVIČOVÁ HOLLÁ (203 Česká republika, domácí), Jana ŠOUKALOVÁ (203 Česká republika, domácí), Jan ŠTEMBÍREK (203 Česká republika), Ivan MÍŠEK (203 Česká republika), Pavlína ČERNOCHOVÁ (203 Česká republika, domácí), Přemysl KREJČÍ (203 Česká republika) a Jiří VANĚK (203 Česká republika, domácí)

Vydání

XVII. setkání biochemiků a molekulárních biologů, 2015

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Kód RIV

RIV/00216224:14310/15:00087453

Organizační jednotka

Přírodovědecká fakulta

ISBN

978-80-210-8015-7

Klíčová slova anglicky

PAX9; tooth agenesis; oligodontia; mutation screening

Změněno: 2. 3. 2016 19:21, prof. RNDr. Omar Šerý, Ph.D.

Anotace

V originále

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.

Návaznosti

NT11420, projekt VaV

Název: Molekulární diagnostika hypodoncie a možnosti zubních autotransplantací

Citovat

BONCZEK, Ondřej, Omar ŠERÝ, Alena HLOUŠKOVÁ, Jan LOCHMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Jana ŠOUKALOVÁ, Jan ŠTEMBÍREK, Ivan MÍŠEK, Pavlína ČERNOCHOVÁ, Přemysl KREJČÍ a Jiří VANĚK. Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia. In XVII. setkání biochemiků a molekulárních biologů. 2015. ISBN 978-80-210-8015-7.

@proceedings{1316824,
   author = {Bonczek, Ondřej and Šerý, Omar and Hloušková, Alena and Lochman, Jan and Izakovičová Hollá, Lydie and Šoukalová, Jana and Štembírek, Jan and Míšek, Ivan and Černochová, Pavlína and Krejčí, Přemysl and Vaněk, Jiří},
   booktitle = {XVII. setkání biochemiků a molekulárních biologů},
   keywords = {PAX9; tooth agenesis; oligodontia; mutation screening},
   language = {eng},
   isbn = {978-80-210-8015-7},
   title = {Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia},
   year = {2015}
}

TY  - CONF
ID  - 1316824
AU  - Bonczek, Ondřej - Šerý, Omar - Hloušková, Alena - Lochman, Jan - Izakovičová Hollá, Lydie - Šoukalová, Jana - Štembírek, Jan - Míšek, Ivan - Černochová, Pavlína - Krejčí, Přemysl - Vaněk, Jiří
PY  - 2015
TI  - Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia
SN  - 9788021080157
KW  - PAX9
KW  - tooth agenesis
KW  - oligodontia
KW  - mutation screening
N2  - 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.
ER  -

BONCZEK, Ondřej, Omar ŠERÝ, Alena HLOUŠKOVÁ, Jan LOCHMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Jana ŠOUKALOVÁ, Jan ŠTEMBÍREK, Ivan MÍŠEK, Pavlína ČERNOCHOVÁ, Přemysl KREJČÍ a Jiří VANĚK. Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia. In \textit{XVII. setkání biochemiků a molekulárních biologů}. 2015. ISBN~978-80-210-8015-7.

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