ID 110156
Author
Mitsui, Silvia Naomi 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
Yasue, Akihiro Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Masuda, Kiyoshi Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School KAKEN Search Researchers
Naruto, Takuya Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School KAKEN Search Researchers
Minegishi, Yoshiyuki Division of Molecular Medicine, Institute of Advanced Enzyme Research, Tokushima University Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Oyadomari, Seiichi Division of Molecular Biology, Institute of Advanced Enzyme Research, Tokushima University Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Imoto, Issei Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Tanaka, Eiji Department of Orthodontics and Dentofacial Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Content Type
Journal Article
Description
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.
Journal Title
Scientific Reports
ISSN
20452322
Volume
6
Start Page
38398
Sort Key
38398
Published Date
2016-12-05
Remark
© 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
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
University Hospital
Medical Sciences
Institute of Advanced Medical Sciences
Oral Sciences
Bioscience and Bioindustry