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J-GLOBAL ID：201702243504895454   整理番号：17A0470603

初期ヒト発生に限定された生物CNVミューテーター表現型【Powered by NICT】

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

著者 (48件)： Liu Pengfei (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Liu Pengfei (Baylor Genetics, Houston, TX 77021, USA) ,  Yuan Bo (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Carvalho Claudia M.B. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Wuster Arthur (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK) ,  Walter Klaudia (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK) ,  Zhang Ling (Collaborative Innovation Center of Genetics and Development, Institute of Reproduction and Development, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China) ,  Gambin Tomasz (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Chong Zechen (Department of Bioinformatics and Computational Biology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA) ,  Campbell Ian M. (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) ,  Gelowani Violet (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Writzl Karin (Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia) ,  Bacino Carlos A. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Bacino Carlos A. (Baylor Genetics, Houston, TX 77021, USA) ,  Bacino Carlos A. (Texas Children’s Hospital, Houston, TX 77030, USA) ,  Lindsay Sarah J. (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK) ,  Withers Marjorie (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Gonzaga-Jauregui Claudia (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Wiszniewska Joanna (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Scull Jennifer (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Scull Jennifer (Baylor Genetics, Houston, TX 77021, USA) ,  Stankiewicz Pawel (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Stankiewicz Pawel (Baylor Genetics, Houston, TX 77021, USA) ,  Jhangiani Shalini N. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Jhangiani Shalini N. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Muzny Donna M. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Muzny Donna M. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Zhang Feng (Collaborative Innovation Center of Genetics and Development, Institute of Reproduction and Development, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China) ,  Chen Ken (Department of Bioinformatics and Computational Biology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA) ,  Gibbs Richard A. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Gibbs Richard A. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Rautenstrauss Bernd (Medical Genetics Center, Bayerstrasse 3-5, 80335 Munich, Germany) ,  Cheung Sau Wai (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Cheung Sau Wai (Baylor Genetics, Houston, TX 77021, USA) ,  Smith Janice (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Smith Janice (Baylor Genetics, Houston, TX 77021, USA) ,  Breman Amy (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Breman Amy (Baylor Genetics, Houston, TX 77021, USA) ,  Shaw Chad A. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Shaw Chad A. (Baylor Genetics, Houston, TX 77021, USA) ,  Patel Ankita (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Patel Ankita (Baylor Genetics, Houston, TX 77021, USA) ,  Hurles Matthew E. (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK) ,  Lupski James R. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Lupski James R. (Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Lupski James R. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Lupski James R. (Texas Children’s Hospital, Houston, TX 77030, USA)
資料名： Cell (Cambridge, Mass.)  (Cell (Cambridge, Mass.))
巻： 168  号： 5  ページ： 830-842.e7  発行年： 2017年 
JST資料番号： A0707B  ISSN： 0092-8674  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： パーソナルゲノムにおける複数の遺伝子座で生じるde novoコピー数変異体(dnCNVs)は通常癌体細胞ゲノム不安定性を反映していると考えられている。ゲノム疾患患者は五~十構造dnCNVsを多重dnCNV(MdnCNV)現象を記述した。これらのCNVsは独立した形成発生率に由来し,主にタンデム重複または複雑な利得は,ブレークポイント接合複製修復を連想させる特徴を示し,転位接合に隣接する増加したde novo点突然変異を示した。活性CNV突然変異シャワーは過渡perizygotic期間に限定されると思われる。CNV形成過程における欠陥である「CNVミューテータ状態」の原因となり,この状態は初期胚発生後に弱められることを提案した。構造MdnCNV現象は種々の癌における染色体不安定性に似ている。この現象の研究はゲノム障害,構造変異体の変異誘発,ヒトの進化,および癌生物学を理解するためのユニークなアクセスを提供するかもしれない。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： *表現型 ,  点突然変異 ,  ゲノム ,  コピー数 ,  突然変異 ,  患者 ,  体細胞 ,  *ヒト ,  変異誘発 ,  複製
準シソーラス用語： 癌生物学 ,  染色体不安定性 ,  初期胚発生 ,  *ミューテーター遺伝子 ,  ゲノムの不安定性 , 【Automatic Indexing@JST】

著者キーワード (8件)： ミューテータ ,  CNV ,  de novo ,  duplication ,  生殖系列 ,  DNA複製 ,  ゲノム不安定性 ,  癌

分類 (2件)： 腫ようの化学・生化学・病理学  (GE02030N) ,  発癌機序・因子  (GE02020C)

タイトルに関連する用語 (5件)： 初期 ,  ヒト ,  生物 ,  CNV ,  表現型