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J-GLOBAL ID：201802236697184589   整理番号：18A0715983

CreBBP変異の相反する効果はRubinstein-Taybi症候群と成人SHH髄芽細胞腫の表現型を支配する【JST・京大機械翻訳】

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma

著者 (57件)： Merk Daniel J. (Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Merk Daniel J. (Cancer Biology and Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA) ,  Merk Daniel J. (Neurobiology, Harvard Medical School, Boston, MA 02215, USA) ,  Ohli Jasmin (Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Merk Natalie D. (Munich Center for Integrated Protein Science at the Chemistry Department, Technical University, 85747 Munich, Germany) ,  Thatikonda Venu (Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany) ,  Morrissy Sorana (Arthur and Sonia Labatt Brain Tumour Research Centre and Division of Neurosurgery, Hospital for Sick Children (HSC), Toronto, ON M5G 1L7, Canada) ,  Morrissy Sorana (Program in Developmental and Stem Cell Biology, HSC, Toronto, ON M5G 1X8, Canada) ,  Schoof Melanie (Research Institute Children’s Cancer Center Hamburg, Martinistrasse 52, N63 (HPI), Hamburg 20251, Germany) ,  Schmid Susanne N. (Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Schmid Susanne N. (Department of Neuropathology, University Medical Center Gottingen, 37099 Gottingen, Germany) ,  Harrison Luke (Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Filser Severin (German Center for Neurodegenerative Diseases (DZNE), Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Ahlfeld Julia (Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Ahlfeld Julia (Division of Clinical Pharmacology, Department of Internal Medicine IV, Ludwig-Maximilians-University, 80337 Munich, Germany) ,  Erkek Serap (Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany) ,  Erkek Serap (European Molecular Biology Laboratory (EMBL), Genome Biology Unit, 69117 Heidelberg, Germany) ,  Erkek Serap (German Cancer Consortium (DKTK), Core Center Heidelberg, 69120 Heidelberg, Germany) ,  Raithatha Kaamini (Microarray and Deep-Sequencing Core Facility, University Medical Center Gottingen, 37077 Gottingen, Germany) ,  Andreska Thomas (Institute for Clinical Neurobiology, University of Wuerzburg, 97078 Wuerzburg, Germany) ,  Weisshaar Marc (Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Launspach Michael (Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Neumann Julia E. (Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Neumann Julia E. (Institute of Neuropathology, University Medical Center, Hamburg-Eppendorf, 20246 Hamburg, Germany) ,  Shakarami Mehdi (Walter Brendel Center of Experimental Medicine, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Plenker Dennis (Department of Translational Genomics, University of Cologne, 50931 Cologne, Germany) ,  Marra Marco A. (Canada’s Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC VSZ 4S6, Canada) ,  Marra Marco A. (Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada) ,  Li Yisu (Canada’s Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC VSZ 4S6, Canada) ,  Mungall Andrew J. (Canada’s Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC VSZ 4S6, Canada) ,  Moore Richard A. (Canada’s Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC VSZ 4S6, Canada) ,  Ma Yussanne (Canada’s Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC VSZ 4S6, Canada) ,  Jones Steven J.M. (Canada’s Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC VSZ 4S6, Canada) ,  Lutz Beat (Institute of Physiological Chemistry, University Medical Center of the Johannes Gutenberg University, 55128 Mainz, Germany) ,  Ertl-Wagner Birgit (Institute of Clinical Radiology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Rossi Andrea (Department of Pediatric Neuroradiology, Istituto Giannina Gaslini, 16147 Genova, Italy) ,  Wagener Rabea (Institute of Human Genetics, Christian-Albrechts-University and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany) ,  Wagener Rabea (Institute for Human Genetics, Ulm University and Ulm University Medical Center, 89081 Ulm, Germany) ,  Siebert Reiner (Institute of Human Genetics, Christian-Albrechts-University and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany) ,  Siebert Reiner (Institute for Human Genetics, Ulm University and Ulm University Medical Center, 89081 Ulm, Germany) ,  Jung Andreas (Institute of Pathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Eberhart Charles G. (Division of Neuropathology and Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21287, USA) ,  Lach Boleslaw (Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada) ,  Sendtner Michael (Institute for Clinical Neurobiology, University of Wuerzburg, 97078 Wuerzburg, Germany) ,  Pfister Stefan M. (Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany) ,  Pfister Stefan M. (German Cancer Consortium (DKTK), Core Center Heidelberg, 69120 Heidelberg, Germany) ,  Pfister Stefan M. (Department of Pediatric Hematology and Oncology, University Hospital Heidelberg, 69120 Heidelberg, Germany) ,  Taylor Michael D. (Arthur and Sonia Labatt Brain Tumour Research Centre and Division of Neurosurgery, Hospital for Sick Children (HSC), Toronto, ON M5G 1L7, Canada) ,  Taylor Michael D. (Program in Developmental and Stem Cell Biology, HSC, Toronto, ON M5G 1X8, Canada) ,  Taylor Michael D. (Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada) ,  Chavez Lukas (Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany) ,  Kool Marcel (Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany) ,  Kool Marcel (German Cancer Consortium (DKTK), Core Center Heidelberg, 69120 Heidelberg, Germany) ,  Schueller Ulrich (Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany) ,  Schueller Ulrich (Research Institute Children’s Cancer Center Hamburg, Martinistrasse 52, N63 (HPI), Hamburg 20251, Germany) ,  Schueller Ulrich (Institute of Neuropathology, University Medical Center, Hamburg-Eppendorf, 20246 Hamburg, Germany) ,  Schueller Ulrich (Department of Pediatric Hematology and Oncology, University Medical Center, Hamburg-Eppendorf, 20246 Hamburg, Germany)
資料名： Developmental Cell  (Developmental Cell)
巻： 44  号： 6  ページ： 709-724.e6  発行年： 2018年 
JST資料番号： W1692A  ISSN： 1534-5807  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： クロマチン修飾因子における再発性突然変異は,Sonicヘッジホッグ関連髄芽腫(SHH MB)を有する青年期または成人患者において特異的に一般的である。ここでは,アセチルトランスフェラーゼCREEBBPにおける変異が,SHH MBの起源の一次部位である小脳の発生の間に対立する効果を有することを報告する。著者らのデータは,マウスの胚発生時の小脳顆粒ニューロン前駆細胞(GNPs)におけるCrebbpの消失が,脳由来神経栄養因子(Bdnf)のダウンレギュレーションにより,GNP発生を損なうことを明らかにした。興味あることに,同時小脳低形成は,CREBBPの生殖細胞系変異により生じる先天性疾患,Rubinstein-Taybi症候群患者でも観察された。対照的に,出生後発生時のGNPにおけるCrebbpの消失は,MB増殖を駆動するSHHシグナリングの発癌性活性化と相乗作用し,それにより,成人患者のSHHMBにおける体細胞CREEBBP変異の濃縮を説明する。まとめると,著者らのデータはCREBBP突然変異の時間に敏感な結果とヒト疾患との関連に関する洞察を提供する。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： *髄芽腫 ,  突然変異 ,  小脳 ,  胚発生 ,  患者 ,  ダウンレギュレーション ,  BDNF ,  アセチルトランスフェラーゼ ,  *成人 ,  生殖細胞 ,  相乗作用 ,  先天性疾患 ,  *変異 ,  *表現型
準シソーラス用語： 前駆細胞 , 【Automatic Indexing@JST】

著者キーワード (6件)： CREBBP ,  アセチルトランスフェラーゼ ,  小脳 ,  Rubinstein-Taybi症候群 ,  SHH髄芽腫 ,  開発

分類 (3件)： 発生と分化  (EJ16020W) ,  細胞生理一般  (EF02010S) ,  生物学的機能  (EB03040U)

タイトルに関連する用語 (6件)： 変異 ,  Rubinstein-Taybi症候群 ,  成人 ,  Shh ,  髄芽細胞腫 ,  表現型