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J-GLOBAL ID：201802272499400564   整理番号：18A0193360

de novo変異はより深い生物学的洞察の統合解析自閉症スペクトラム障害【Powered by NICT】

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

著者 (55件)： Takata Atsushi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Miyake Noriko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Tsurusaki Yoshinori (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Tsurusaki Yoshinori (Clinical Research Institute, Kanagawa Children’s Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama 232-8555, Japan) ,  Fukai Ryoko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Fukai Ryoko (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Miyatake Satoko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Miyatake Satoko (Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Koshimizu Eriko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Kushima Itaru (Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan) ,  Okada Takashi (Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan) ,  Morikawa Mako (Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan) ,  Uno Yota (Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan) ,  Ishizuka Kanako (Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan) ,  Nakamura Kazuhiko (Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine, 5 Zaif-cho, Hirosaki 036-8562, Japan) ,  Nakamura Kazuhiko (Department of Psychiatry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431-3192, Japan) ,  Tsujii Masatsugu (Faculty of Sociology, Chukyo University, 101 Tokodachi, Kaizu-cho, Toyota 470-0393, Japan) ,  Yoshikawa Takeo (Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako 351-0198, Japan) ,  Toyota Tomoko (Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako 351-0198, Japan) ,  Okamoto Nobuhiko (Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi 594-1101, Japan) ,  Hiraki Yoko (Hiroshima Municipal Center for Child Health and Development, 2-15-55 Hikarimachi, Higashi-ku, Hiroshima 732-0052, Japan) ,  Hashimoto Ryota (Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University, D3, 2-2 Yamadaoka, Suita 565-0871, Japan) ,  Hashimoto Ryota (Department of Psychiatry, Osaka University Graduate School of Medicine, D3, 2-2 Yamadaoka, Suita 565-0871, Japan) ,  Yasuda Yuka (Department of Psychiatry, Osaka University Graduate School of Medicine, D3, 2-2 Yamadaoka, Suita 565-0871, Japan) ,  Saitoh Shinji (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Kawasumi 1, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan) ,  Ohashi Kei (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Kawasumi 1, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan) ,  Sakai Yasunari (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan) ,  Ohga Shouichi (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan) ,  Hara Toshiro (Fukuoka Children’s Hospital, 5-1-1 Kashiiteriha, Higashi-ku, Fukuoka 813-0017, Japan) ,  Kato Mitsuhiro (Department of Pediatrics, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo 142-8666, Japan) ,  Nakamura Kazuyuki (Department of Pediatrics, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan) ,  Ito Aiko (Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities, 3-7-1 Kawasaki, Kaminoyama, Yamagata 999-3145, Japan) ,  Seiwa Chizuru (Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities, 3-7-1 Kawasaki, Kaminoyama, Yamagata 999-3145, Japan) ,  Shirahata Emi (Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities, 3-7-1 Kawasaki, Kaminoyama, Yamagata 999-3145, Japan) ,  Osaka Hitoshi (Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke 329-0498, Japan) ,  Matsumoto Ayumi (Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke 329-0498, Japan) ,  Takeshita Saoko (Department of Pediatrics, Yokohama City University Medical Center, 4-57 Urafune, Minami-ku, Yokohama 232-0024, Japan) ,  Tohyama Jun (Department of Pediatrics, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata 950-2085, Japan) ,  Saikusa Tomoko (Departments of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan) ,  Saikusa Tomoko (Department of Pediatrics, St. Mary’s Hospital, 422 Tsubukuhonmach, Kurume 830-8543, Japan) ,  Matsuishi Toyojiro (Departments of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan) ,  Matsuishi Toyojiro (Department of Pediatrics, St. Mary’s Hospital, 422 Tsubukuhonmach, Kurume 830-8543, Japan) ,  Nakamura Takumi (Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-shi, Saitama 351-0198, Japan) ,  Nakamura Takumi (Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo 153-8902, Japan) ,  Tsuboi Takashi (Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo 153-8902, Japan) ,  Kato Tadafumi (Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-shi, Saitama 351-0198, Japan) ,  Suzuki Toshifumi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Suzuki Toshifumi (Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo 113-8421, Japan) ,  Saitsu Hirotomo (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Nakashima Mitsuko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Mizuguchi Takeshi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Tanaka Fumiaki (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan) ,  Mori Norio (Department of Psychiatry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431-3192, Japan) ,  Ozaki Norio (Department of Psychiatry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan)
資料名： Cell Reports  (Cell Reports)
巻： 22  号： 3  ページ： 734-747  発行年： 2018年 
JST資料番号： W3124A  ISSN： 2211-1247  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 最近の研究は,自閉症スペクトラム障害(ASD)のde novo変異(DNM)の重要な役割を確立した。ここでは,日本産の262名のASD発端者におけるDNMを解析し,人種間でASDの「de novoパラダイム」を確認した。この一貫性に基づいて,著者らは,我々のin DNMと公表されたASDコホート(総数トリオの,4,244)を損傷のリストを組み合わせ,統合的なバイオインフォマティクス解析を行った。以前の研究の知見を複製に加えて,著者らの分析は,ATP結合遺伝子と胎児小脳/線条体回路を明らかにした。個々の遺伝子の分析は,DNMを損傷のための濃縮61遺伝子を同定し,これらのデータセットは,統計的有意性に寄与する十遺伝子を含む。DNMを損傷を受けた遺伝子の発現を変化させる化合物のスクリーニングにより,バルプロ酸,ASDの既知の危険因子の全体的なダウンレギュレーション効果を明らかにするが,強心配糖体はこれらの遺伝子をアップレギュレートする。まとめると,著者らの統合的アプローチはASDへのより深い生物学的と潜在的医療洞察を提供した。Copyright 2018 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【Powered by NICT】

シソーラス用語： ダウンレギュレーション ,  小脳 ,  線条体 ,  母集団 ,  胎児 ,  遺伝子 ,  強心配糖体 ,  危険因子 ,  統計的有意性 ,  バイオインフォマティクス ,  人種 ,  *遺伝的変異 ,  脳 ,  グリコシド ,  配糖体 ,  脂肪酸
準シソーラス用語： *変異 ,  *自閉症スペクトラム障害 ,  *統合解析 , 【Automatic Indexing@JST】

著者キーワード (10件)： ASD ,  de novo変異 ,  小脳 ,  striatum ,  ATP2B2 ,  GGNBP2 ,  M CM6 ,  AGO1 ,  ATP1A3 ,  強心配糖体

分類 (2件)： 遺伝的変異  (EC01030Y) ,  精神科の基礎医学  (GR01020I)

物質索引 (1件)： バルプロ酸

タイトルに関連する用語 (5件)： 変異 ,  生物学 ,  洞察 ,  統合解析 ,  自閉症スペクトラム障害