| BONCZEK, Ondřej, Peter BIELIK, Přemysl KREJČÍ, Tomáš ZEMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Jana ŠOUKALOVÁ, Jiří VANĚK, Gerguri TEREZA, Vladimír Josef BALCAR a Omar ŠERÝ. Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia. PLOS ONE. san Francisco: Public Library of Science, 2018, roč. 13, č. 9, s. 1-13. ISSN 1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0202989. |
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@article{1435138,
author = {Bonczek, Ondřej and Bielik, Peter and Krejčí, Přemysl and Zeman, Tomáš and Izakovičová Hollá, Lydie and Šoukalová, Jana and Vaněk, Jiří and Tereza, Gerguri and Balcar, Vladimír Josef and Šerý, Omar},
article_location = {san Francisco},
article_number = {9},
doi = {http://dx.doi.org/10.1371/journal.pone.0202989},
keywords = {Tooth agenesis; oligodontia; DNA sequencing; odontogenesis},
language = {eng},
issn = {1932-6203},
journal = {PLOS ONE},
title = {Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia},
url = {http://dx.plos.org/10.1371/journal.pone.0202989},
volume = {13},
year = {2018}
}
TY - JOUR
ID - 1435138
AU - Bonczek, Ondřej - Bielik, Peter - Krejčí, Přemysl - Zeman, Tomáš - Izakovičová Hollá, Lydie - Šoukalová, Jana - Vaněk, Jiří - Tereza, Gerguri - Balcar, Vladimír Josef - Šerý, Omar
PY - 2018
TI - Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia
JF - PLOS ONE
VL - 13
IS - 9
SP - 1-13
EP - 1-13
PB - Public Library of Science
SN - 19326203
KW - Tooth agenesis
KW - oligodontia
KW - DNA sequencing
KW - odontogenesis
UR - http://dx.plos.org/10.1371/journal.pone.0202989
L2 - http://dx.plos.org/10.1371/journal.pone.0202989
N2 - Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350 genes have been associated with teeth development. In this study, we enrolled 60 child patients (age 13 to 17) with various types of tooth agenesis. Whole gene sequences of PAX9, MSX1, AXIN2, EDA, EDAR and WNT10a genes were sequenced by next generation sequencing on the Illumina MiSeq platform. We found previously undescribed heterozygous nonsense mutation g.8177G>T (c.610G>T) in MSX1 gene in one child. Mutation was verified by Sanger sequencing. Sequencing analysis was performed in other family members of the affected child. All family members carrying g.8177G>T mutation suffered from oligodontia (missing more than 6 teeth excluding third molars). Mutation g.8177G>T leads to a stop codon (p.E204X) and premature termination of Msx1 protein translation. Based on previous in vitro experiments on mutation disrupting function of Msx1 homeodomain, we assume that the heterozygous g.8177G>T nonsense mutation affects the amount and function of Msx1 protein and leads to tooth agenesis.
ER -
BONCZEK, Ondřej, Peter BIELIK, Přemysl KREJČÍ, Tomáš ZEMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Jana ŠOUKALOVÁ, Jiří VANĚK, Gerguri TEREZA, Vladimír Josef BALCAR a Omar ŠERÝ. Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia. \textit{PLOS ONE}. san Francisco: Public Library of Science, 2018, roč.~13, č.~9, s.~1-13. ISSN~1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0202989.
|
