ID 110165
著者
ニシ, アキラ Department of Psychiatry, Graduate School of Biomedical Sciences, Tokushima University
沼田, 周助 Department of Psychiatry, Graduate School of Biomedical Sciences, Tokushima University 徳島大学 教育研究者総覧 KAKEN研究者をさがす
田嶋, 敦 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
イトウ, コウキ Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine
サイトウ, アツシ Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine
カトウ, ユウスケ Division of Enzyme Pathophysiology, The Institute for Enzyme Research (KOSOKEN), Tokushima University 徳島大学 教育研究者総覧 KAKEN研究者をさがす
キノシタ, マコト Department of Psychiatry, Graduate School of Biomedical Sciences, Tokushima University 徳島大学 教育研究者総覧 KAKEN研究者をさがす
シモデラ, シンジ Department of Neuropsychiatry, Kochi Medical School, Kochi University
オノ, シンジ Department of Neuropsychiatry, Nagasaki University Graduate School of Biomedical Sciences
オチ, シンイチロウ Department of Neuropsychiatry, Ehime University Graduate School of Medicine
イマムラ, アキラ Department of Neuropsychiatry, Nagasaki University Graduate School of Biomedical Sciences
クロタキ, ナオヒロ Department of Neuropsychiatry, Nagasaki University Graduate School of Biomedical Sciences
ウエノ, シュウイチ Department of Neuropsychiatry, Ehime University Graduate School of Medicine
イワタ, ナカオ Department of Psychiatry, School of Medicine, Fujita Health University
フクイ, キヨシ Division of Enzyme Pathophysiology, The Institute for Enzyme Research (KOSOKEN), 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, Graduate School of Biomedical Sciences, Tokushima University 徳島大学 教育研究者総覧 KAKEN研究者をさがす
カミヤ, アツシ Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine
オオモリ, テツロウ Department of Psychiatry, Graduate School of Biomedical Sciences, Tokushima University 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
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.
掲載誌名
Scientific Reports
ISSN
20452322
7
開始ページ
2887
並び順
2887
発行日
2017-06-06
備考
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/.
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
医学系
先端酵素学研究所
病院