• PMID: 27965440
• Gene Name: CFAP157
• Condition: Required for flagellum morphogenesis, sperm motility, male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Required for flagellum morphogenesis, sperm motility, male infertility

CFAP157 is a murine downstream effector of FOXJ1 that is specifically required for flagellum morphogenesis and sperm motility

Weidemann M, Schuster-Gossler K, Stauber M, Wrede C, Hegermann J, Ott T, Boldt K, Beyer T, Serth K, Kremmer E, Blum M, Ueffing M, Gossler A.

Motile cilia move extracellular fluids or mediate cellular motility. Their function is essential for embryonic development, adult tissue homeostasis and reproduction throughout vertebrates. FOXJ1 is a key transcription factor for the formation of motile cilia but its downstream genetic programme is only partially understood. Here, we characterise a novel FOXJ1 target, Cfap157, that is specifically expressed in motile ciliated tissues in mouse and Xenopus in a FOXJ1-dependent manner. CFAP157 protein localises to basal bodies and interacts with tubulin and the centrosomal protein CEP350. Cfap157 knockout mice appear normal but homozygous males are infertile. Spermatozoa display impaired motility and a novel phenotype: Cfap157-deficient sperm exhibit axonemal loops, supernumerary axonemal profiles with ectopic accessory structures, excess cytoplasm and clustered mitochondria in the midpiece regions, and defective axonemes along the flagella. Our study thus demonstrates an essential sperm-specific function for CFAP157 and suggests that this novel FOXJ1 effector is part of a mechanism that acts during spermiogenesis to suppress the formation of supernumerary axonemes and ensures a correct ultrastructure. CI - © 2016. Published by The Company of Biologists Ltd. FAU - Weidemann, Marina AU - Weidemann M AD - Institute for Molecular Biology, OE5250, Hannover Medical School, Carl-Neuberg-Str. 1, Hannover 30625, Germany. FAU - Schuster-Gossler, Karin AU - Schuster-Gossler K AD - Institute for Molecular Biology, OE5250, Hannover Medical School, Carl-Neuberg-Str. 1, Hannover 30625, Germany. FAU - Stauber, Michael AU - Stauber M AD - Institute for Molecular Biology, OE5250, Hannover Medical School, Carl-Neuberg-Str. 1, Hannover 30625, Germany. FAU - Wrede, Christoph AU - Wrede C AD - Institute of Functional and Applied Anatomy, OE8840, Hannover Medical School, Carl-Neuberg-Str. 1, Hannover 30625, Germany. FAU - Hegermann, Jan AU - Hegermann J AD - Institute of Functional and Applied Anatomy, OE8840, Hannover Medical School, Carl-Neuberg-Str. 1, Hannover 30625, Germany. FAU - Ott, Tim AU - Ott T AD - Institute of Zoology, University of Hohenheim, Garbenstraße 30, Stuttgart 70593, Germany. FAU - Boldt, Karsten AU - Boldt K AD - Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Röntgenweg 11, Tübingen 72076, Germany. FAU - Beyer, Tina AU - Beyer T AD - Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Röntgenweg 11, Tübingen 72076, Germany. FAU - Serth, Katrin AU - Serth K AD - Institute for Molecular Biology, OE5250, Hannover Medical School, Carl-Neuberg-Str. 1, Hannover 30625, Germany. FAU - Kremmer, Elisabeth AU - Kremmer E AD - Institute of Molecular Immunology, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Core Facility Monoclonal Antibodies, Marchioninistr. 25, München 81377, Germany. FAU - Blum, Martin AU - Blum M AD - Institute of Zoology, University of Hohenheim, Garbenstraße 30, Stuttgart 70593, Germany. FAU - Ueffing, Marius AU - Ueffing M AD - Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Röntgenweg 11, Tübingen 72076, Germany.