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J-GLOBAL ID：201902255803531424   整理番号：19A0980940

p53の消失は確率的異常X染色体不活性化と女性特異的神経管欠損を引き起こす【JST・京大機械翻訳】

Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects

著者 (38件)： Delbridge Alex R.D. (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Delbridge Alex R.D. (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Kueh Andrew J. (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Kueh Andrew J. (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Ke Francine (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Ke Francine (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Zamudio Natasha M. (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  El-Saafin Farrah (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  El-Saafin Farrah (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Jansz Natasha (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Jansz Natasha (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Wang Gao-Yuan (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Wang Gao-Yuan (College of Life Science, Zhejiang University, Hangzhou 310058, China) ,  Iminitoff Megan (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Beck Tamara (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Haupt Sue (Tumour Suppression Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia) ,  Haupt Sue (Department of Clinical Pathology, The University of Melbourne, Parkville, VIC 3010, Australia) ,  Hu Yifang (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  May Rose E. (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Whitehead Lachlan (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Whitehead Lachlan (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Tai Lin (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Chiang William (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Chiang William (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Herold Marco J. (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Herold Marco J. (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Haupt Ygal (Tumour Suppression Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia) ,  Haupt Ygal (Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC, Australia) ,  Smyth Gordon K. (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Smyth Gordon K. (School of Mathematics and Statistics, The University of Melbourne, Melbourne, VIC, Australia) ,  Thomas Tim (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Thomas Tim (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Blewitt Marnie E. (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Blewitt Marnie E. (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Strasser Andreas (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Strasser Andreas (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia) ,  Voss Anne K. (Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia) ,  Voss Anne K. (Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia)
資料名： Cell Reports  (Cell Reports)
巻： 27  号： 2  ページ： 442-454.e5  発行年： 2019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： 神経管欠損(NTDs)はヒトにおける一般的な出生欠陥であり,説明されていない女性の偏りを示す。腫瘍抑制因子p53を欠く雌マウスは不完全浸透性を有するNTDsを示す。プロアポトーシスBIMとp53の組合せ損失は100%の浸透性,雌性排他的NTDsを引き起こし,p53の雌特異的機能を調べることを可能にした。著者らは,雌のp53-/-胚神経管試料が,不活性なX染色体マーカーXistとH3K27me3を有するより少ない細胞を示し,X連鎖遺伝子,Huwe1とUSP9Xの二対立遺伝子発現の同時増加を示すことを報告する。Xistの減少とX連鎖遺伝子発現の増加がRNA配列決定により確認された。さらに,p53はX染色体不活性化中心(XIC)において応答要素を直接結合することを見出した。まとめると,これらの知見は,p53がXIC遺伝子を直接活性化することを示唆し,X染色体不活性化において確率的失敗があり,X染色体不活性化障害が神経管閉鎖欠損における雌性バイアスの根底にある可能性があることを示唆する。Copyright 2019 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： RNA【核酸】 ,  遺伝子 ,  *女性 ,  バイアス ,  ヒト ,  *p53タンパク質 ,  *X染色体 ,  遺伝子発現 ,  *神経管
準シソーラス用語： 神経管閉鎖 ,  応答配列 ,  X連鎖遺伝子 ,  出生 ,  *神経管欠損症 ,  *X染色体不活性化 , 【Automatic Indexing@JST】

著者キーワード (10件)： 女性特異的神経管欠損 ,  X染色体不活性化 ,  p53 ,  Xist ,  FTX ,  TSIX ,  二対立遺伝子発現 ,  BIM ,  BCL2L11 ,  SMCHD1

分類 (1件)： 遺伝子発現  (EC02040Q)

タイトルに関連する用語 (5件)： p53 ,  確率 ,  X染色体不活性化 ,  女性 ,  神経管欠損