ID 110156
著者
三井, なおみ Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School|Division of Molecular Biology, Institute of Advanced Enzyme Research, Tokushima University
泰江, 章博 Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School 徳島大学 教育研究者総覧 KAKEN研究者をさがす
増田, 清士 Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School KAKEN研究者をさがす
成戸, 卓也 Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School KAKEN研究者をさがす
峯岸, 克行 Division of Molecular Medicine, Institute of Advanced Enzyme Research, Tokushima University 徳島大学 教育研究者総覧 KAKEN研究者をさがす
親泊, 政一 Division of Molecular Biology, Institute of Advanced Enzyme Research, Tokushima University 徳島大学 教育研究者総覧 KAKEN研究者をさがす
井本, 逸勢 Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School 徳島大学 教育研究者総覧 KAKEN研究者をさがす
田中, 栄二 Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School 徳島大学 教育研究者総覧 KAKEN研究者をさがす
資料タイプ
学術雑誌論文
抄録
Several mutations, located mainly in the MSX1 homeodomain, have been identified in non-syndromic tooth agenesis predominantly affecting premolars and third molars. We identified a novel frameshift mutation of the highly conserved C-terminal domain of MSX1, known as Msx homology domain 6 (MH6), in a Japanese family with non-syndromic tooth agenesis. To investigate the importance of MH6 in tooth development, Msx1 was targeted in mice with CRISPR/Cas system. Although heterozygous MH6 disruption did not alter craniofacial development, homozygous mice exhibited agenesis of lower incisors with or without cleft palate at E16.5. In addition, agenesis of the upper third molars and the lower second and third molars were observed in 4-week-old mutant mice. Although the upper second molars were present, they were abnormally small. These results suggest that the C-terminal domain of MSX1 is important for tooth and palate development, and demonstrate that that CRISPR/Cas system can be used as a tool to assess causality of human disorders in vivo and to study the importance of conserved domains in genes.
掲載誌名
Scientific Reports
ISSN
20452322
6
開始ページ
38398
並び順
38398
発行日
2016-12-05
備考
© The Author(s) 2016 This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
EDB ID
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
病院
医学系
先端酵素学研究所
歯学系
生物資源系