CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

• 資料種別: 文書・図像類
• タイトル: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
• 著者・編者: Dougherty, Gerard W; Mizuno, Katsutoshi; Nöthe-Menchen, Tabea; Ikawa, Yayoi; Boldt, Karsten; Ta-Shma, Asaf; Aprea, Isabella; Minegishi, Katsura; Pang, Yuan-Ping; Pennekamp, Petra; Loges, Niki T; Raidt, Johanna; Hjeij, Rim; Wallmeier, Julia; Mussaffi, Huda; Perles, Zeev; Elpeleg, Orly; Rabert, Franziska; Shiratori, Hidetaka; Letteboer, Stef J; Horn, Nicola; Young, Samuel; Strünker, Timo; Stumme, Friederike; Werner, Claudius; Olbrich, Heike; Takaoka, Katsuyoshi; Ide, Takahiro; Twan, Wang Kyaw; Biebach, Luisa; Große-Onnebrink, Jörg; Klinkenbusch, Judith A; Praveen, Kavita; Bracht, Diana C; Höben, Inga M; Junger, Katrin; Gützlaff, Jana; Cindrić, Sandra; Aviram, Micha; Kaiser, Thomas; Memari, Yasin; Dzeja, Petras P; Dworniczak, Bernd; Ueffing, Marius; Roepman, Ronald; Bartscherer, Kerstin; Katsanis, Nicholas; Davis, Erica E; Amirav, Israel; Hamada, Hiroshi; Omran, Heymut
• 著者標目: Dougherty, Gerard W; Mizuno, Katsutoshi; Nöthe-Menchen, Tabea; Ikawa, Yayoi; Boldt, Karsten; Ta-Shma, Asaf; Aprea, Isabella; Minegishi, Katsura; Pang, Yuan-Ping; Pennekamp, Petra; Loges, Niki T; Raidt, Johanna; Hjeij, Rim; Wallmeier, Julia; Mussaffi, Huda; Perles, Zeev; Elpeleg, Orly; Rabert, Franziska; Shiratori, Hidetaka; Letteboer, Stef J; Horn, Nicola; Young, Samuel; Strünker, Timo; Stumme, Friederike; Werner, Claudius; Olbrich, Heike; Takaoka, Katsuyoshi; Ide, Takahiro; Twan, Wang Kyaw; Biebach, Luisa; Große-Onnebrink, Jörg; Klinkenbusch, Judith A; Praveen, Kavita; Bracht, Diana C; Höben, Inga M; Junger, Katrin; Gützlaff, Jana; Cindrić, Sandra; Aviram, Micha; Kaiser, Thomas; Memari, Yasin; Dzeja, Petras P; Dworniczak, Bernd; Ueffing, Marius; Roepman, Ronald; Bartscherer, Kerstin; Katsanis, Nicholas; Davis, Erica E; Amirav, Israel; Hamada, Hiroshi; Omran, Heymut
• 出版事項: Springer Mature
• 出版年月日等: 2020-11-02
• 出版年（W3CDTF）: 2020-11-02
• 並列タイトル等: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
• タイトル（掲載誌）: nature communications
• 巻号年月日等（掲載誌）: 11 5520
• 掲載巻: 11
• 掲載号: 5520
• 掲載ページ: 1-20
• ISSN（掲載誌）: ISSN : 2041-1723
• 本文の言語コード: eng
• 対象利用者: 一般
• 一般注記: Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar beating is not fully understood. Here, we describe a deficiency of cilia and flagella associated protein 45 (CFAP45) in humans and mice that presents a motile ciliopathy featuring situs inversus totalis and asthenospermia. CFAP45-deficient cilia and flagella show normal morphology and axonemal ultrastructure. Proteomic profiling links CFAP45 to an axonemal module including dynein ATPases and adenylate kinase as well as CFAP52, whose mutations cause a similar ciliopathy. CFAP45 binds AMP in vitro, consistent with structural modelling that identifies an AMP-binding interface between CFAP45 and AK8. Microtubule sliding of dyskinetic sperm from Cfap45−/− mice is rescued with the addition of either AMP or ADP with ATP, compared to ATP alone. We propose that CFAP45 supports mammalian ciliary and flagellar beating via an adenine nucleotide homeostasis module.; source:https://www.nature.com/articles/s41467-020-19113-0#rightslink
• 一次資料へのリンクURL: https://u-fukui.repo.nii.ac.jp/?action=repository_action_common_download&item_id=29368&item_no=1&attribute_id=22&file_no=1
• オンライン閲覧公開範囲: 限定公開
• 著作権情報: cc-by 4.0; CC BY
• 関連情報（DOI）: 10.1038/s41467-020-19113-0
• 連携機関・データベース: 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• 提供元機関・データベース: 福井大学 : 福井大学学術機関リポジトリ