2026-03-05T07:34:19Z https://tokushima-u.repo.nii.ac.jp/oai

oai:tokushima-u.repo.nii.ac.jp:02003364 2025-04-28T06:37:59Z 1713853213384:1713853295607

De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity ニシ, アキラ ニシ, アキラ Nishi, Akira 沼田, 周助 306 ヌマタ, シュウスケ 172447/profile-ja.html Numata, Shusuke 10403726 田嶋, 敦 タジマ, アツシ Tajima, Atsushi Zhu, Xiaolei イトウ, コウキ イトウ, コウキ Ito, Koki サイトウ, アツシ サイトウ, アツシ Saito, Atsushi 加藤, 有介 746 カトウ, ユウスケ 70596816 Kato, Yusuke 木下, 誠 575 キノシタ, マコト 40622478 Kinoshita, Makoto シモデラ, シンジ シモデラ, シンジ Shimodera, Shinji オノ, シンジ オノ, シンジ Ono, Shinji オチ, シンイチロウ オチ, シンイチロウ Ochi, Shinichiro イマムラ, アキラ イマムラ, アキラ Imamura, Akira クロタキ, ナオヒロ クロタキ, ナオヒロ Kurotaki, Naohiro ウエノ, シュウイチ ウエノ, シュウイチ Ueno, Shu-ichi イワタ, ナカオ イワタ, ナカオ Iwata, Nakao 福井, 清 271 フクイ, キヨシ 15881/profile-ja.html Fukui, Kiyoshi 00175564 井本, 逸勢 444 イモト, イッセイ 30258610 Imoto, Issei カミヤ, アツシ カミヤ, アツシ Kamiya, Atsushi 大森, 哲郎 1533 オオモリ, テツロウ 60046/profile-ja.html Ohmori, Tetsuro 00221135 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 article 2017-06-06 VoR application/pdf Scientific Reports 7 2887 20452322 https://tokushima-u.repo.nii.ac.jp/record/2003364/files/LID201706134001.pdf https://tokushima-u.repo.nii.ac.jp/records/2003364 eng 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/.