ArticleNature communications2018
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
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Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers.
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121citing papers in PubMed
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Who cites it
121 citing papers in PubMed, 236 citations in OpenAlex.
- Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella.Scientific reports · 2019Trial
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- Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.Clinical genetics · 2026Article
- Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility.Journal of clinical medicine · 2026Review
- Genome-Wide Analysis of DNA Methylation Profiles on Jining Grey Goat Uterus Associated with Prolificacy Using Whole-Genome Bisulfite Sequencing.Animals : an open access journal from MDPI · 2026Article
- Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia.BMC medical genomics · 2026Article
- Rare missense variants identified by whole-genome sequencing in men with oligoasthenoteratozoospermia: An experimental study.International journal of reproductive biomedicine · 2026Article
- A novel homozygous frameshift mutation in CFAP65 is associated with multiple morphological abnormalities of sperm flagella in a consanguineous Pakistani family.Basic and clinical andrology · 2026Article
- The Frequency of Semen Abnormalities Among Jordanian Population: A Retrospective Single-Center Study of 1182 Cases.Diseases (Basel, Switzerland) · 2026Article
- Novel biallelic CFAP43 mutations induce MMAF with mitochondrial abnormalities and successful ICSI outcomes.Asian journal of andrology · 2026Article
- A Compound Heterozygous Missense Variant in TheInternational journal of fertility & sterility · 2026Article
- Current and emerging molecular diagnostic approaches in the detection of human parasites.Parasitology research · 2026Review
- Associations of Tumor Somatic Mutations and Genetic Alterations with Survival Outcomes in Melanoma Patients Treated with Ipilimumab.Journal of clinical medicine · 2026Article
- A novel CFAP57 nonsense mutation causes asthenozoospermia in a consanguineous Emirati family.Molecular biology reports · 2026Article
- Novel mutations in FSIP2 cause male infertility through multiple morphological abnormalities of the sperm flagella.Asian journal of andrology · 2026Article
- Human teratozoospermia-related AGTPBP1 R791H mutation is associated with sperm head and tail defects in a CRISPR-engineered murine model.Journal of assisted reproduction and genetics · 2026Article
- A Novel Deep-IntronicThe application of clinical genetics · 2026Article
- Mining of candidate genes related to prolificacy in Jining grey goats using transcriptomics.BMC genomics · 2025Article
- Genetic variants inThe Libyan journal of medicine · 2025Article
- Is the TEX11-.652del237bp Exonic In-Frame Deletion Variant Associated with Azoospermia? The Results of anGenes · 2025Article
61 more citing papers are in PubMed but not listed here.
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Authors and funding
45 authors at 8 institutions in 4 countries.
Charles CouttonGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Alexandra S VargasGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.ORCID http://orcid.org/0000-0002-9826-0526
Amir Amiri-YektaGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.ORCID http://orcid.org/0000-0002-8099-7984
Zine-Eddine KherrafGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Selima Fourati Ben MustaphaPolyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, 1003, Tunis, Tunisia.
Pauline Le TannoGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Clémentine Wambergue-LegrandGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Thomas KaraouzèneGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Guillaume MartinezGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Serge CrouzyLaboratoire de Chimie et Biologie des Métaux, Institut de Recherche en Technologie et Sciences pour le Vivant, CEA iRTSV/LCBM/GMCT, CNRS UMR 5249, Université Grenoble Alpes, 38054, Grenoble, France.
Abbas DaneshipourDepartment of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACER, Tehran, 16635-148, Iran.
Seyedeh Hanieh HosseiniDepartment of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, 16635-148, Iran.
Valérie MitchellEA 4308, Department of Reproductive Biology and Spermiology-CECOS Lille, University Medical Center, Lille, 59037, France.
Lazhar HalouaniPolyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, 1003, Tunis, Tunisia.
Ouafi MarrakchiPolyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, 1003, Tunis, Tunisia.
Mounir MakniPolyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, 1003, Tunis, Tunisia.
Habib LatrousPolyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, 1003, Tunis, Tunisia.
Mahmoud KharoufPolyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, 1003, Tunis, Tunisia.
Jean-François DeleuzeCentre National de Génotypage, Institut de Génomique, CEA, 91000, Evry, France.
Anne BolandCentre National de Génotypage, Institut de Génomique, CEA, 91000, Evry, France.
Sylviane HennebicqGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Véronique SatreGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Pierre-Simon JoukCHU de Grenoble, UF de Génétique Médicale, 38000, Grenoble, France.
Nicolas Thierry-MiegUniv. Grenoble Alpes/CNRS TIMC-IMAG, 38000, Grenoble, France.
Beatrice ConneDepartment of Genetic Medicine and Development, University of Geneva Medical School, 1211, Geneva, Switzerland.
Denis DacheuxMicrobiologie Fondamentale et Pathogénicité CNRS UMR 5234, University Bordeaux, 33000, Bordeaux, France.
Nicolas LandreinMicrobiologie Fondamentale et Pathogénicité CNRS UMR 5234, University Bordeaux, 33000, Bordeaux, France.
Alain SchmittInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut Cochin, 75014, Paris, France.
Laurence StouvenelInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut Cochin, 75014, Paris, France.
Patrick LorèsInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut Cochin, 75014, Paris, France.
Elma El KhouriInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut Cochin, 75014, Paris, France.
Serge P BottariGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Julien FauréCHU de Grenoble UF de Biochimie Génétique et Moléculaire, 38000, Grenoble, France.
Jean-Philippe WolfSorbonne Paris Cité, Faculté de Médecine, Université Paris Descartes, 75014, Paris, France.
Karin Pernet-GallayGrenoble Neuroscience Institute, INSERM 1216, 38000, Grenoble, France.
Jessica EscoffierGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Hamid GourabiDepartment of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACER, Tehran, 16635-148, Iran.
Derrick R RobinsonMicrobiologie Fondamentale et Pathogénicité CNRS UMR 5234, University Bordeaux, 33000, Bordeaux, France.
Serge NefDepartment of Genetic Medicine and Development, University of Geneva Medical School, 1211, Geneva, Switzerland.
Emmanuel DulioustSorbonne Paris Cité, Faculté de Médecine, Université Paris Descartes, 75014, Paris, France.
Raoudha ZouariPolyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, 1003, Tunis, Tunisia.
Mélanie BonhiversMicrobiologie Fondamentale et Pathogénicité CNRS UMR 5234, University Bordeaux, 33000, Bordeaux, France.ORCID http://orcid.org/0000-0001-9179-8473
Aminata TouréInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut Cochin, 75014, Paris, France.
Christophe ArnoultGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France.
Pierre F RayGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France. pray@chu-grenoble.fr.ORCID http://orcid.org/0000-0003-1544-7449
Centre National de la Recherche Scientifique · FRDélégation Paris 5 · FRRoyan Institute · IRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRInserm · FRUniversity of Geneva · CHCentre Hospitalier Universitaire de Grenoble · FRUniversité de Lille · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spermatogenesis 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.
Indexed as
MutationAdultAnimalsAxonemeClustered Regularly Interspaced Short Palindromic RepeatsCohort StudiesCytoskeletal ProteinsExome SequencingFertilityFlagellaHomozygoteHumansInfertility, MaleMaleMiceMice, KnockoutCFAP43 protein, humanCFAP44 protein, humanCytoskeletal ProteinsMicrotubule ProteinsNuclear ProteinsPeptide Hydrolases
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