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J-GLOBAL ID：201802259790556422   整理番号：18A1481119

IRF2BPLは神経表現型と関連する【JST・京大機械翻訳】

IRF2BPL Is Associated with Neurological Phenotypes

著者 (54件)： Marcogliese Paul C. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Shashi Vandana (Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA) ,  Spillmann Rebecca C. (Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA) ,  Stong Nicholas (Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA) ,  Rosenfeld Jill A. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Koenig Mary Kay (Division of Child & Adolescent Neurology, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA) ,  Martinez-Agosto Julian A. (Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA) ,  Martinez-Agosto Julian A. (Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA) ,  Martinez-Agosto Julian A. (Department of Child and Adolescent Psychiatry, Resnick Neuropsychiatric Hospital, University of California, Los Angeles, Los Angeles, CA 90095, USA) ,  Herzog Matthew (Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA) ,  Chen Agnes H. (Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA) ,  Dickson Patricia I. (Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA) ,  Lin Henry J. (Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA) ,  Vera Moin U. (Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA) ,  Salamon Noriko (Department of Radiology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA) ,  Ortiz Damara (Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, University of Pittsburgh, Pittsburgh, PA 15224, USA) ,  Infante Elena (Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, University of Pittsburgh, Pittsburgh, PA 15224, USA) ,  Steyaert Wouter (Department of Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium) ,  Dermaut Bart (Department of Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium) ,  Poppe Bruce (Department of Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium) ,  Chung Hyung-Lok (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Zuo Zhongyuan (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Lee Pei-Tseng (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Kanca Oguz (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Xia Fan (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Yang Yaping (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Smith Edward C. (Division of Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA) ,  Jasien Joan (Division of Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA) ,  Kansagra Sujay (Division of Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA) ,  Spiridigliozzi Gail (Department of Psychiatry and Behavioral Sciences, Duke University School of Medicine, Durham, NC 27710, USA) ,  El-Dairi Mays (Department of Ophthalmology, Duke University School of Medicine, Durham, NC 27710, USA) ,  Lark Robert (Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC 27710, USA) ,  Riley Kacie (Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA) ,  Koeberl Dwight D. (Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA) ,  Golden-Grant Katie (Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA) ,  Yamamoto Shinya (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Yamamoto Shinya (Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA) ,  Yamamoto Shinya (Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA) ,  Yamamoto Shinya (Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA) ,  Wangler Michael F. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Wangler Michael F. (Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA) ,  Wangler Michael F. (Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA) ,  Mirzaa Ghayda (Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98105, USA) ,  Mirzaa Ghayda (Department of Pediatrics, University of Washington, Seattle, WA 98105, USA) ,  Hemelsoet Dimitri (Department of Neurology, Ghent University Hospital, 9000 Ghent, Belgium) ,  Lee Brendan (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Nelson Stanley F. (Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA) ,  Goldstein David B. (Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA) ,  Bellen Hugo J. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Bellen Hugo J. (Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA) ,  Bellen Hugo J. (Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA) ,  Bellen Hugo J. (Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA) ,  Bellen Hugo J. (Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA) ,  Pena Loren D.M. (Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 103  号： 2  ページ： 245-260  発行年： 2018年 
JST資料番号： B0360B  ISSN： 0002-9297  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： インターフェロン調節因子2結合蛋白質様(IRF2BPL)は転写調節因子IRF2BPファミリーのメンバーをコードする。現在,この遺伝子の生物学的機能は不明瞭で,遺伝子はメンデル病と関連していない。ここでは,IRF2BPLにおいてヘテロ接合性変異体を損傷し,神経症状に影響を受ける7人の個人について述べる。早期終止コドンを生じるIRF2BPLナンセンス変異体を持つ5人の個人は,重度の神経発達回帰,低緊張,進行性運動失調,発作,および協調の欠如を示す。ミスセンス変異体を持つ2つの付加的な個体は,非センス対立遺伝子を持つものよりも全体的な発達遅延と発作および比較的穏やかな表現型を示す。個体群ゲノミクスに基づくIRF2BPL生物情報学的特徴は,変異に耐性のある遺伝子と一致する。著者らは,ピット(TTK69およびSin3Aと相互作用する蛋白質)と呼ばれる果実-ハエIRF2BPLオーソログが,神経系を含む広く検出されることを示す。ピットの完全な消失は発生の初期に致死的であるが,ニューロンにおけるRNA干渉による部分的ノックダウンは神経変性をもたらし,適切なニューロン機能と維持におけるこの遺伝子の必要性を明らかにする。同定されたIRF2BPLナンセンス変異体はこのモデル生物において重篤な機能喪失対立遺伝子として挙動し,ミスセンス変異体の異所性発現は一連の表現型をもたらす。まとめると,著者らの結果はIRF2BPLとピットがヒトとハエの神経系に必要であり,それらの損失が両種における神経学的表現型の範囲をもたらすことを示す。Copyright 2018 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： タンパク質 ,  終止コドン ,  発作 ,  遺伝子 ,  対立遺伝子 ,  変異 ,  ナンセンス突然変異 ,  ヒト ,  *表現型 ,  ニューロン ,  ミスセンス突然変異 ,  RNA干渉 ,  神経系
準シソーラス用語： オルソログ ,  *神経 , 【Automatic Indexing@JST】

著者キーワード (10件)： 低血圧症 ,  発達回帰 ,  運動失調 ,  発作 ,  ショウジョウバエ ,  ピット ,  CG11138 ,  神経変性 ,  C3HC4リングフィンガー ,  EAP1

分類 (1件)： 遺伝子発現  (EC02040Q)

タイトルに関連する用語 (2件)： 神経 ,  表現型