Nature Communications (Nov 2020)
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
- Gerard W. Dougherty,
- Katsutoshi Mizuno,
- Tabea Nöthe-Menchen,
- Yayoi Ikawa,
- Karsten Boldt,
- Asaf Ta-Shma,
- Isabella Aprea,
- Katsura Minegishi,
- Yuan-Ping Pang,
- Petra Pennekamp,
- Niki T. Loges,
- Johanna Raidt,
- Rim Hjeij,
- Julia Wallmeier,
- Huda Mussaffi,
- Zeev Perles,
- Orly Elpeleg,
- Franziska Rabert,
- Hidetaka Shiratori,
- Stef J. Letteboer,
- Nicola Horn,
- Samuel Young,
- Timo Strünker,
- Friederike Stumme,
- Claudius Werner,
- Heike Olbrich,
- Katsuyoshi Takaoka,
- Takahiro Ide,
- Wang Kyaw Twan,
- Luisa Biebach,
- Jörg Große-Onnebrink,
- Judith A. Klinkenbusch,
- Kavita Praveen,
- Diana C. Bracht,
- Inga M. Höben,
- Katrin Junger,
- Jana Gützlaff,
- Sandra Cindrić,
- Micha Aviram,
- Thomas Kaiser,
- Yasin Memari,
- Petras P. Dzeja,
- Bernd Dworniczak,
- Marius Ueffing,
- Ronald Roepman,
- Kerstin Bartscherer,
- Nicholas Katsanis,
- Erica E. Davis,
- Israel Amirav,
- Hiroshi Hamada,
- Heymut Omran
Affiliations
- Gerard W. Dougherty
- Department of General Pediatrics, University Hospital Münster
- Katsutoshi Mizuno
- RIKEN Center for Biosystems Dynamics Research
- Tabea Nöthe-Menchen
- Department of General Pediatrics, University Hospital Münster
- Yayoi Ikawa
- RIKEN Center for Biosystems Dynamics Research
- Karsten Boldt
- Institute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen
- Asaf Ta-Shma
- Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center
- Isabella Aprea
- Department of General Pediatrics, University Hospital Münster
- Katsura Minegishi
- RIKEN Center for Biosystems Dynamics Research
- Yuan-Ping Pang
- Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic
- Petra Pennekamp
- Department of General Pediatrics, University Hospital Münster
- Niki T. Loges
- Department of General Pediatrics, University Hospital Münster
- Johanna Raidt
- Department of General Pediatrics, University Hospital Münster
- Rim Hjeij
- Department of General Pediatrics, University Hospital Münster
- Julia Wallmeier
- Department of General Pediatrics, University Hospital Münster
- Huda Mussaffi
- Schneider Children’s Medical Center
- Zeev Perles
- Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center
- Orly Elpeleg
- Department of Genetics, Hadassah-Hebrew University Medical Center
- Franziska Rabert
- Max Planck Research Group on Stem Cells & Regeneration, Max Planck Institute for Molecular Biomedicine
- Hidetaka Shiratori
- Developmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University
- Stef J. Letteboer
- Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Nicola Horn
- Institute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen
- Samuel Young
- Centre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster
- Timo Strünker
- Centre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster
- Friederike Stumme
- Department of General Pediatrics, University Hospital Münster
- Claudius Werner
- Department of General Pediatrics, University Hospital Münster
- Heike Olbrich
- Department of General Pediatrics, University Hospital Münster
- Katsuyoshi Takaoka
- RIKEN Center for Biosystems Dynamics Research
- Takahiro Ide
- RIKEN Center for Biosystems Dynamics Research
- Wang Kyaw Twan
- RIKEN Center for Biosystems Dynamics Research
- Luisa Biebach
- Department of General Pediatrics, University Hospital Münster
- Jörg Große-Onnebrink
- Department of General Pediatrics, University Hospital Münster
- Judith A. Klinkenbusch
- Department of General Pediatrics, University Hospital Münster
- Kavita Praveen
- Center for Human Disease Modeling, Duke University Medical Center
- Diana C. Bracht
- Department of General Pediatrics, University Hospital Münster
- Inga M. Höben
- Department of General Pediatrics, University Hospital Münster
- Katrin Junger
- Institute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen
- Jana Gützlaff
- Department of General Pediatrics, University Hospital Münster
- Sandra Cindrić
- Department of General Pediatrics, University Hospital Münster
- Micha Aviram
- Soroka Medical Center
- Thomas Kaiser
- Department of General Pediatrics, University Hospital Münster
- Yasin Memari
- Department of Medical Genetics, Addenbrooke’s Hospital
- Petras P. Dzeja
- Department of Cardiovascular Medicine, Mayo Clinic
- Bernd Dworniczak
- Department of Human Genetics, University of Münster
- Marius Ueffing
- Institute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen
- Ronald Roepman
- Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Kerstin Bartscherer
- Max Planck Research Group on Stem Cells & Regeneration, Max Planck Institute for Molecular Biomedicine
- Nicholas Katsanis
- Center for Human Disease Modeling, Duke University Medical Center
- Erica E. Davis
- Center for Human Disease Modeling, Duke University Medical Center
- Israel Amirav
- Pulmonology Unit, Dana-Dwek Children’s Hospital, Tel-Aviv University
- Hiroshi Hamada
- RIKEN Center for Biosystems Dynamics Research
- Heymut Omran
- Department of General Pediatrics, University Hospital Münster
- DOI
- https://doi.org/10.1038/s41467-020-19113-0
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 20
Abstract
The mechanism by which adenosine monophosphate modulates dynein ATPase-mediated ciliary and flagellar beating remains obscure. Here the authors identify an axonemal module including cilia and flagella associated protein 45 that supports adenine nucleotide homeostasis and underlies a human ciliopathy
