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

• Material Type: 文書・図像類
• Title: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
• Author/Editor: 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
• Author Heading: 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
• Publication, Distribution, etc.: Springer Mature
• Publication Date: 2020-11-02
• Publication Date (W3CDTF): 2020-11-02
• Alternative Title: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
• Periodical title: nature communications
• No. or year of volume/issue: 11 5520
• Volume: 11
• Issue: 5520
• Pages: 1-20
• ISSN (Periodical Title): ISSN : 2041-1723
• Text Language Code: eng
• Target Audience: 一般
• Note (General): 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
• Access Restrictions: 限定公開
• Rights (production): cc-by 4.0
• Related Material (DOI): 10.1038/s41467-020-19113-0
• Data Provider (Database): 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
• Original Data Provider (Database): 福井大学 : 福井大学学術機関リポジトリ