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J-GLOBAL ID：201702248025009340   整理番号：17A0993898

精子完成の間のはヒストンへのプロタミン交換によるヒトPiwi原因男性不妊症におけるユビキチン化欠損変異【Powered by NICT】

Ubiquitination-Deficient Mutations in Human Piwi Cause Male Infertility by Impairing Histone-to-Protamine Exchange during Spermiogenesis

著者 (23件)： Gou Lan-Tao (State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of ...) ,  Gou Lan-Tao (Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093-0651, USA) ,  Kang Jun-Yan (State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of ...) ,  Dai Peng (State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of ...) ,  Wang Xin (State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of ...) ,  Li Feng (State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of ...) ,  Zhao Shuang (State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of ...) ,  Zhang Man (State Key Laboratory of Cell Biology, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai 200031, China) ,  Hua Min-Min (State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of ...) ,  Hua Min-Min (Key Lab of Reproduction Regulation of NPFPC-Shanghai Institute of Planned Parenthood Research, Fudan University Reproduction and Development Institution, Shanghai 200032, China) ,  Lu Yi (Key Lab of Reproduction Regulation of NPFPC-Shanghai Institute of Planned Parenthood Research, Fudan University Reproduction and Development Institution, Shanghai 200032, China) ,  Zhu Yong (Department of Andrology and PFD, Center for Men’s Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Lab of Reproductive Medicine Shanghai Jiao Tong University, Shanghai, 200080, China) ,  Li Zheng (Department of Andrology and PFD, Center for Men’s Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Lab of Reproductive Medicine Shanghai Jiao Tong University, Shanghai, 200080, China) ,  Chen Hong (Department of Anatomy, Histology and Embryology, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China) ,  Wu Li-Gang (State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of ...) ,  Li Dangsheng (Shanghai Information Center for Life Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China) ,  Fu Xiang-Dong (Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093-0651, USA) ,  Li Jinsong (State Key Laboratory of Cell Biology, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai 200031, China) ,  Li Jinsong (School of Life Science and Technology, Shanghai Tech University, Shanghai 201210, China) ,  Shi Hui-Juan (Key Lab of Reproduction Regulation of NPFPC-Shanghai Institute of Planned Parenthood Research, Fudan University Reproduction and Development Institution, Shanghai 200032, China) ,  Liu Mo-Fang (State Key Laboratory of Molecular Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of ...) ,  Liu Mo-Fang (School of Life Science and Technology, Shanghai Tech University, Shanghai 201210, China) ,  Liu Mo-Fang (Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai 200438, China)
資料名： Cell (Cambridge, Mass.)  (Cell (Cambridge, Mass.))
巻： 169  号： 6  ページ： 1090-1104.e13  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： 遺伝学的研究は,動物の生殖系発生におけるPiwi蛋白質の重要な役割を明らかにしたが,Piwiはヒト不妊症における実際の疾患遺伝子であるかどうかは知られていない。はそのユビキチン化と分解を阻害する無精子症患者におけるヒトPiwi(Hiwi)における生殖細胞系変異を報告した。Piwi(Miwi)ノックインマウスにおける変異などをモデル化することにより,遺伝的欠陥である男性不妊の直接の原因であることを示した。機構的に,著者らはMIWIはPiwi相互作用RNA(piRNA)-非依存性様式でヒストンユビキチンリガーゼRNF8を結合し,MIWI安定化は後期精子細胞の細胞質におけるRNF8を隔離することを示した。得られた異常な精子はヒストン保持,異常形態,および重度に障害した活性,RNF8Nペプチドと精子細胞におけるRNF8MIWI相互作用を遮断することにより機能的に救済することができるを示した。まとめると,著者らの知見は,ヒトの不妊の要因としてのPiwiを同定し,精子形成時のヒストンにプロタミン交換の調節におけるその役割を明らかにした。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： 生殖 ,  *ヒト ,  *変異 ,  *精子 ,  遺伝 ,  *男性不妊症 ,  細胞質 ,  *ヒストン ,  相互作用 ,  *プロタミン ,  *ユビキチン化 ,  精子形成
準シソーラス用語： 精子細胞 ,  RNF8 ,  *Piwi蛋白質 , 【Automatic Indexing@JST】

分類 (2件)： 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 (9件)： ヒストン ,  プロタミン ,  ヒト ,  Piwi ,  原因 ,  男性不妊症 ,  ユビキチン化 ,  欠損 ,  変異