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

Autor: Denis Dacheux, Guillaume Martinez, Christine E Broster Reix, Julie Beurois, Patrick Lores, Magamba Tounkara, Jean-William Dupuy, Derrick Roy Robinson, Corinne Loeuillet, Emeline Lambert, Zeina Wehbe, Jessica Escoffier, Amir Amiri-Yekta, Abbas Daneshipour, Seyedeh-Hanieh Hosseini, Raoudha Zouari, Selima Fourati Ben Mustapha, Lazhar Halouani, Xiaohui Jiang, Ying Shen, Chunyu Liu, Nicolas Thierry-Mieg, Amandine Septier, Marie Bidart, Véronique Satre, Caroline Cazin, Zine Eddine Kherraf, Christophe Arnoult, Pierre F Ray, Aminata Toure, Mélanie Bonhivers, Charles Coutton

Publikováno v: eLife, Vol 12 (2023)

Male 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

Externí odkaz: https://doaj.org/article/2b37a6175cab4e93a36110639ca35769

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

Autor: Ségolène Veau, Gilles Schuler, Aline Papaxanthos, Julien Bessonnat, Marine Poulain, H. Lejeune, Laurent Pasquier, Rosalie Cabry, Raoudha Zouari, Amandine Septier, Flore Mietton, Myriam Chaabouni, Vincent Achard, Zine-Eddine Kherraf, Charles Coutton, Antoine Clergeau, Dominique Lauton, Christophe Sifer, Béatrice Dorphin, Catherine Guillemain, Mahmoud Kharouf, Tristan Celse, Sebti Benbouhadja, Nathalie Sermondade, Selima Fourati Ben Mustapha, Pierre F. Ray, Delphine Martinez, Bernard Foliguet, Julie Beurois, Valérie Mitchell, Guillaume Martinez, Abdelali Zoghmar, Véronique Satre, Ahmed Chargui, Gérard Tachdjian, Cynthia Frapsauce, Chema Triki, Sylviane Hennebicq, Jacques Puechberty, Caroline Cazin, Christophe Arnoult, Nicolas Thierry-Mieg, Lionel Mery

Publikováno v: Human Genetics
Human Genetics, Springer Verlag, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, Springer Verlag, In press, ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩

International audience; Globozoospermia is a rare phenotype of primary male infertility inducing the production of round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50-70% of all cases and the entire deletion of the gene is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f529143440a28307c54a227d5849354
https://hal.archives-ouvertes.fr/hal-03025179

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Autor: Gérald Le Gac, Yann Fichou, Chandran Ka, Charles Coutton, Emmanuel Dulioust, Graciane Petre, Marie Bidart, Denis Dacheux, Raoudha Zouari, Nicolas Thierry-Mieg, Isabelle Gourlaouen, Julie Beurois, Mélanie Bonhivers, Guillaume Martinez, Derrick R. Robinson, Véronique Satre, Zine-Eddine Kherraf, Pierre F. Ray, Caroline Cazin, Christophe Arnoult, Aminata Touré

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩

BackgroundMultiple morphological abnormalities of the flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility defined as asthenozoospermia. Despite numerous genes recently described to be recurrently associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c73c9d7565b67354b20b0734c2ecdd9d
https://hal-cnrs.archives-ouvertes.fr/hal-03004959

Biallelic variants in

Autor: Guillaume, Martinez, Julie, Beurois, Denis, Dacheux, Caroline, Cazin, Marie, Bidart, Zine-Eddine, Kherraf, Derrick R, Robinson, Véronique, Satre, Gerald, Le Gac, Chandran, Ka, Isabelle, Gourlaouen, Yann, Fichou, Graciane, Petre, Emmanuel, Dulioust, Raoudha, Zouari, Nicolas, Thierry-Mieg, Aminata, Touré, Christophe, Arnoult, Mélanie, Bonhivers, Pierre, Ray, Charles, Coutton

Publikováno v: Journal of medical genetics. 57(10)

Multiple morphological abnormalities of the flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility defined as asthenozoospermia. Despite numerous genes recently described to be recurrently associated with MMAF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8a6af12b16778343576f9bf25b671cf4
https://pubmed.ncbi.nlm.nih.gov/32161152

Intraoviductal concentrations of steroid hormones during in vitro culture changed phospholipid profiles and cryotolerance of bovine embryos

Autor: Emilie Corbin, Marie Saint-Dizier, Daniel Le Bourhis, Pascal Salvetti, Pascal Mermillod, Daniel Tomas, Florine Dubuisson, Julie Beurois, Valérie Labas, Charles Banliat

Publikováno v: Molecular Reproduction and Development
Molecular Reproduction and Development, Wiley, 2019, 86 (6), pp.661-672. ⟨10.1002/mrd.23144⟩

International audience; The objective of this study was to evaluate the effect of progesterone (P4), estradiol (E2), and cortisol (CO) at intraoviductal concentrations on bovine embryo development and quality in vitro. After fertilization of in vitro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c988d5e8788eb9fc26767aa9b8fb77fa
https://hal.inrae.fr/hal-02628367