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J-GLOBAL ID：201702213566239936   整理番号：17A1718921

DHX30における新規ミスセンス変異は大域的翻訳を阻害すると神経発達障害を引き起こす【Powered by NICT】

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

著者 (57件)： Lessel Davor (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany) ,  Lessel Davor (Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany) ,  Schob Claudia (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany) ,  Kuery Sebastien (CHU Nantes, Service de Genetique Medicale, 9 quai Moncousu, 44093 Nantes Cedex, France) ,  Reinders Margot R.F. (Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands) ,  Harel Tamar (Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001) ,  Eldomery Mohammad K. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Coban-Akdemir Zeynep (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Denecke Jonas (Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany) ,  Edvardson Shimon (Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001) ,  Edvardson Shimon (Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001) ,  Colin Estelle (Department of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France) ,  Colin Estelle (Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bat IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France) ,  Stegmann Alexander P.A. (Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands) ,  Stegmann Alexander P.A. (Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands) ,  Gerkes Erica H. (Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands) ,  Tessarech Marine (Department of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France) ,  Tessarech Marine (Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bat IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France) ,  Bonneau Dominique (Department of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France) ,  Bonneau Dominique (Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bat IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France) ,  Barth Magalie (Department of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France) ,  Barth Magalie (Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bat IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France) ,  Besnard Thomas (CHU Nantes, Service de Genetique Medicale, 9 quai Moncousu, 44093 Nantes Cedex, France) ,  Cogne Benjamin (CHU Nantes, Service de Genetique Medicale, 9 quai Moncousu, 44093 Nantes Cedex, France) ,  Revah-Politi Anya (Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA) ,  Strom Tim M. (Institute of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany) ,  Strom Tim M. (Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany) ,  Rosenfeld Jill A. (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) ,  Posey Jennifer E. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Immken LaDonna (Clinical Genetics, Specially for Children, Austin, TX 78723, USA) ,  Oundjian Nelly (Valley Hospital, Ridgewood, NJ, USA) ,  Helbig Katherine L. (Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA) ,  Meeks Naomi (Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA) ,  Meeks Naomi (Clinical Genetics, Children’s Hospital Colorado, Aurora, CO, USA) ,  Zegar Kelsey (Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA) ,  Zegar Kelsey (Clinical Genetics, Children’s Hospital Colorado, Aurora, CO, USA) ,  Morton Jenny (West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s NHS Foundation Trust, B15 2TG Birmingham, UK) ,  Schieving Jolanda H. (Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands) ,  Claasen Ana (Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA) ,  Huentelman Matthew (Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA) ,  Narayanan Vinodh (Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA) ,  Ramsey Keri (Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA) ,  Brunner Han G. (Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands) ,  Elpeleg Orly (Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001) ,  Elpeleg Orly (Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001) ,  Mercier Sandra (CHU Nantes, Service de Genetique Medicale, 9 quai Moncousu, 44093 Nantes Cedex, France) ,  Bezieau Stephane (CHU Nantes, Service de Genetique Medicale, 9 quai Moncousu, 44093 Nantes Cedex, France) ,  Kubisch Christian (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany) ,  Kubisch Christian (Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany) ,  Kleefstra Tjitske (Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands) ,  Kindler Stefan (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany) ,  Lupski James R. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Lupski James R. (Texas Children’s Hospital, Houston, TX 77030, USA) ,  Lupski James R. (Baylor Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA) ,  Lupski James R. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Kreienkamp Hans-Juergen (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 101  号： 5  ページ： 716-724  発行年： 2017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： DHX30はDExHボックスヘリカーゼのファミリー,ATP加水分解を使用してRNA二次構造を巻き戻すのメンバーである。ここでは,全般的な発育遅延(GDD),知的障害(ID),重度の発話障害と歩行異常の影響を受けた十二名の非血縁個人におけるDHX30の六種類のde novoミスセンス変異を同定した。四変異は再発が,二は1つの反復突然変異のコドンに影響を及ぼすものとユニークである。全アミノ酸変化は高度に保存されたヘリカーゼモチーフ内に位置して,種々のin vitroアッセイにおけるATPアーゼ活性またはRNA認識を障害することを見出した。蛋白質変異体はストレス顆粒(SG)形成地球翻訳阻害を誘発するために増加傾向を示した。これら所見は,中枢神経系の発達と機能における翻訳制御の重要な役割を明らかにし,DHX30機能障害は神経発達障害を引き起こす可能性があるかについて分子的洞察を提供した。Copyright 2017 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【Powered by NICT】

シソーラス用語： 機能障害 ,  RNA【核酸】 ,  *変異 ,  中枢神経系 ,  知能障害 ,  タンパク質 ,  *ミスセンス突然変異 ,  コドン
準シソーラス用語： 翻訳制御 ,  ストレス顆粒 ,  歩行異常 ,  成長遅延 ,  RNA二次構造 ,  ATP加水分解 ,  *神経発達障害 , 【Automatic Indexing@JST】

分類 (5件)： 酵素一般  (EB09010D) ,  分子構造  (EB03020Y) ,  神経系の疾患  (GN03000O) ,  生物学的機能  (EB03040U) ,  分子遺伝学一般  (EC02010J)

タイトルに関連する用語 (4件)： ミスセンス変異 ,  翻訳 ,  阻害 ,  神経発達障害