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Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in $Trypanosoma$ and human.

dc.contributor.authorCOUTTON, Charles
dc.contributor.authorVARGAS, Alexandra S.
dc.contributor.authorAMIRI-YEKTA, Amir
dc.contributor.authorKHERRAF, Zine-Eddine
dc.contributor.authorFOURATI BEN MUSTAPHA, Selima
dc.contributor.authorLE TANNO, Pauline
dc.contributor.authorWAMBERGUE LEGRAND, Clémentine
dc.contributor.authorKARAOUZÈNE, Thomas
dc.contributor.authorMARTINEZ, Guillaume
dc.contributor.authorCROUZY, Serge
dc.contributor.authorDANESHIPOUR, Abbas
dc.contributor.authorHOSSEINI, Seyedeh Hanieh
dc.contributor.authorMITCHELL, Valerie
dc.contributor.authorHALOUANI, Lazhar
dc.contributor.authorOUAFI, Marrakchi
dc.contributor.authorMAKNI, Mounir
dc.contributor.authorLATROUS, Habib
dc.contributor.authorKHAROUF, Mahmoud
dc.contributor.authorDELEUZE, Jean-François
dc.contributor.authorBOLAND, Anne
dc.contributor.authorHENNEBICQ, Sylviane
dc.contributor.authorSATRE, Veronique
dc.contributor.authorJOUK, Pierre-Simon
dc.contributor.authorTHIERRY-MIEG, Nicolas
dc.contributor.authorCONNE, Béatrice
hal.structure.identifierMicrobiologie Fondamentale et Pathogénicité [MFP]
dc.contributor.authorDACHEUX, Denis
hal.structure.identifierMicrobiologie Fondamentale et Pathogénicité [MFP]
dc.contributor.authorLANDREIN, Nicolas
dc.contributor.authorSCHMITT, Alain
dc.contributor.authorSTOUVENEL, Laurence
dc.contributor.authorLORES, Patrick
dc.contributor.authorEL KHOURI, Elma
dc.contributor.authorBOTTARI, Serge P.
dc.contributor.authorFAURE, Julien
dc.contributor.authorWOLF, Jean Philippe
dc.contributor.authorPERNET-GALLAY, Karine
dc.contributor.authorESCOFFIER, Jessica
dc.contributor.authorGOURABI, Hamid
hal.structure.identifierMicrobiologie Fondamentale et Pathogénicité [MFP]
dc.contributor.authorROBINSON, Derrick R
dc.contributor.authorNEF, Serge
dc.contributor.authorDULIOUST, Emmanuel
dc.contributor.authorZOUARI, Raoudha
hal.structure.identifierMicrobiologie Fondamentale et Pathogénicité [MFP]
dc.contributor.authorBONHIVERS, Melanie
dc.contributor.authorTOURE, Aminata
dc.contributor.authorARNOULT, Christophe
dc.contributor.authorRAY, Pierre F.
dc.date.accessioned2023-06-26T08:56:14Z
dc.date.available2023-06-26T08:56:14Z
dc.date.issued2018-02-15
dc.identifier.issn2041-1723
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/182816
dc.description.abstractEnSpermatogenesis defects concern millions of men worldwide, yet the vast majority remains undiagnosed. Here we report men with primary infertility due to multiple morphological abnormalities of the sperm flagella with severe disorganization of the sperm axoneme, a microtubule-based structure highly conserved throughout evolution. Whole-exome sequencing was performed on 78 patients allowing the identification of 22 men with bi-allelic mutations in DNAH1 (n = 6), CFAP43 (n = 10), and CFAP44 (n = 6). CRISPR/Cas9 created homozygous CFAP43/44 male mice that were infertile and presented severe flagellar defects confirming the human genetic results. Immunoelectron and stimulated-emission-depletion microscopy performed on CFAP43 and CFAP44 orthologs in $Trypanosoma\ brucei$ evidenced that both proteins are located between the doublet microtubules 5 and 6 and the paraflagellar rod. Overall, we demonstrate that CFAP43 and CFAP44 have a similar structure with a unique axonemal localization and are necessary to produce functional flagella in species ranging from $Trypanosoma$ to human.
dc.description.sponsorshipDéveloppment d'une infrastructure française distribuée coordonnée
dc.description.sponsorshipGénétique et Physiopathologie des anomalies morphologiques du flagelle spermatique associé à une infertilité masculine.
dc.description.sponsorshipAnévrismes intracraniens : des formes familiales aux méchanismes physiopathologiques - ANR-15-CE17-0008
dc.language.isoen
dc.publisherNature Publishing Group
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.title.enMutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in $Trypanosoma$ and human.
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41467-017-02792-7
dc.subject.halSciences du Vivant [q-bio]/Biologie de la reproduction
dc.subject.halSciences du Vivant [q-bio]/Génétique/Génétique humaine
bordeaux.journalNature Communicationsen_US
bordeaux.page686
bordeaux.volume9
bordeaux.hal.laboratoriesMFP (Laboratoire Microbiologie Fondamentale et Pathogénicité) - UMR 5234en_US
bordeaux.institutionCNRS
bordeaux.peerReviewedoui
bordeaux.import.sourcehal
hal.identifierhal-01724640
hal.version1
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=Nature%20Communications&rft.date=2018-02-15&rft.volume=9&rft.spage=686&rft.epage=686&rft.eissn=2041-1723&rft.issn=2041-1723&rft.au=COUTTON,%20Charles&VARGAS,%20Alexandra%20S.&AMIRI-YEKTA,%20Amir&KHERRAF,%20Zine-Eddine&FOURATI%20BEN%20MUSTAPHA,%20Selima&rft.genre=article


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