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Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function

dc.rights.licenseopenen_US
dc.contributor.authorDACHEUX, Denis
dc.contributor.authorMARTINEZ, Guillaume
dc.contributor.authorBROSTER REIX, Christine
dc.contributor.authorBEUROIS, Julie
dc.contributor.authorLORÈS, Patrick
dc.contributor.authorTOUNKARA, Magamba
dc.contributor.authorDUPUY, Jean-William
hal.structure.identifierMicrobiologie Fondamentale et Pathogénicité [MFP]
dc.contributor.authorROBINSON, Derrick
hal.structure.identifierInstitute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) [IAB]
dc.contributor.authorLOEUILLET, Corinne
hal.structure.identifierInstitute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) [IAB]
dc.contributor.authorLAMBERT, Emeline
hal.structure.identifierInstitute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) [IAB]
dc.contributor.authorWEHBE, Zeina
dc.contributor.authorAMIRI-YEKTA, Amir
dc.contributor.authorDANESHIPOUR, Abbas
dc.contributor.authorHOSSEINI, Seyedeh-Hanieh
dc.contributor.authorZOUARI, Raoudha
hal.structure.identifierPolyclinique les Jasmins [Tunis]
dc.contributor.authorFOURATI BEN MUSTAPHA, S.
dc.contributor.authorHALOUANI, Lazhar
dc.contributor.authorJIANG, Xiaohui
dc.contributor.authorSHEN, Ying
dc.contributor.authorLIU, Chunyu
dc.contributor.authorTHIERRY-MIEG, Nicolas
dc.contributor.authorSEPTIER, Amandine
dc.contributor.authorBIDART, Marie
dc.contributor.authorSATRE, Véronique
dc.contributor.authorCAZIN, Caroline
dc.contributor.authorKHERRAF, Zine-Eddine
dc.contributor.authorARNOULT, Christophe
dc.contributor.authorRAY, Pierre
dc.contributor.authorTOURÉ, Aminata
hal.structure.identifierMicrobiologie Fondamentale et Pathogénicité [MFP]
dc.contributor.authorBONHIVERS, Mélanie
dc.contributor.authorCOUTTON, Charles
dc.date.accessioned2024-04-23T13:17:33Z
dc.date.available2024-04-23T13:17:33Z
dc.date.issued2023-09-04
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/199283
dc.description.abstractEnMale infertility is common and complex, presenting a wide range of heterogeneous phenotypes. Although about 50% of cases are estimated to have a genetic component, the underlying cause often remains undetermined. Here, from whole-exome sequencing on samples from 168 infertile men with asthenoteratozoospermia due to severe sperm flagellum, we identified homozygous ZMYND12 variants in four unrelated patients. In sperm cells from these individuals, immunofluorescence revealed altered localization of DNAH1, DNALI1, WDR66 and TTC29. Axonemal localization of ZMYND12 ortholog TbTAX-1 was confirmed using the Trypanosoma brucei model. RNAi knock-down of TbTAX-1 dramatically affected flagellar motility, with a phenotype similar to the sperm from men bearing homozygous ZMYND12 variants. Co-immunoprecipitation and ultrastructure expansion microscopy in T. brucei revealed TbTAX-1 to form a complex with TTC29. Comparative proteomics with samples from Trypanosoma and Ttc29 KO mice identified a third member of this complex: DNAH1. The data presented revealed that ZMYND12 is part of the same axonemal complex as TTC29 and DNAH1, which is critical for flagellum function and assembly in humans, and Trypanosoma. ZMYND12 is thus a new asthenoteratozoospermia-associated gene, bi-allelic variants of which cause severe flagellum malformations and primary male infertility.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/us/*
dc.title.enNovel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function
dc.typeArticle de revueen_US
dc.identifier.doi10.7554/eLife.87698.2en_US
dc.subject.halSciences du Vivant [q-bio]en_US
dc.subject.halSciences du Vivant [q-bio]/Microbiologie et Parasitologieen_US
bordeaux.journaleLifeen_US
bordeaux.hal.laboratoriesMFP (Laboratoire Microbiologie Fondamentale et Pathogénicité) - UMR 5234en_US
bordeaux.institutionCNRSen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcehal
hal.identifierhal-04241708
hal.version1
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcehal
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=eLife&rft.date=2023-09-04&rft.au=DACHEUX,%20Denis&MARTINEZ,%20Guillaume&BROSTER%20REIX,%20Christine&BEUROIS,%20Julie&LOR%C3%88S,%20Patrick&rft.genre=article


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