ID 110165
Author
Nishi, Akira Department of Psychiatry, Graduate School of Biomedical Sciences, Tokushima University
Numata, Shusuke Department of Psychiatry, Graduate School of Biomedical Sciences, Tokushima University Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Tajima, Atsushi Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University|Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University
Zhu, Xiaolei Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine
Ito, Koki Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine
Saito, Atsushi Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine
Kato, Yusuke Division of Enzyme Pathophysiology, The Institute for Enzyme Research (KOSOKEN), Tokushima University Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Kinoshita, Makoto Department of Psychiatry, Graduate School of Biomedical Sciences, Tokushima University Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Shimodera, Shinji Department of Neuropsychiatry, Kochi Medical School, Kochi University
Ono, Shinji Department of Neuropsychiatry, Nagasaki University Graduate School of Biomedical Sciences
Ochi, Shinichiro Department of Neuropsychiatry, Ehime University Graduate School of Medicine
Imamura, Akira Department of Neuropsychiatry, Nagasaki University Graduate School of Biomedical Sciences
Kurotaki, Naohiro Department of Neuropsychiatry, Nagasaki University Graduate School of Biomedical Sciences
Ueno, Shu-ichi Department of Neuropsychiatry, Ehime University Graduate School of Medicine
Iwata, Nakao Department of Psychiatry, School of Medicine, Fujita Health University
Fukui, Kiyoshi Division of Enzyme Pathophysiology, The Institute for Enzyme Research (KOSOKEN), Tokushima University Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Imoto, Issei Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Kamiya, Atsushi Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine
Ohmori, Tetsuro Department of Psychiatry, Graduate School of Biomedical Sciences, Tokushima University Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Content Type
Journal Article
Description
Here we report de novo non-synonymous single-nucleotide variants (SNVs) by conducting whole exome sequencing of 18 trios consisting of Japanese patients with sporadic schizophrenia and their parents. Among nine SNVs, we explored the functional impact of the de novo mutation in TBL1XR1 [c.30C>G (p.Phe10Leu)], a gene previously found to be associated with autism spectrum disorder and epilepsy. Protein structural analysis revealed that Phe10Leu mutation may decrease the structural stability of the TBL1XR1 protein. We demonstrate that Phe10Leu mutation alters the interaction of TBL1XR1 with N-CoR and β-catenin, which play critical roles in regulation of Wnt-mediated transcriptional activity. Consistently, TBL1XR1-mediated activation of Wnt signaling was up-regulated by Phe10Leu mutation. These results suggest that a de novo TBL1XR1 point mutation could alter Wnt/β-catenin signaling activity. Further studies are required to clarify the involvement of TBL1XR1 mutations in neuropsychiatric conditions.
Journal Title
Scientific Reports
ISSN
20452322
Volume
7
Start Page
2887
Sort Key
2887
Published Date
2017-06-06
Remark
Copyright© The Author(s) 2017 This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Medical Sciences
Institute of Advanced Medical Sciences
University Hospital