Jana Muroňová, Zine Eddine Kherraf, Elsa Giordani, Emeline Lambert, Simon Eckert, Caroline Cazin, Amir Amiri-Yekta, Magali Court, Geneviève Chevalier, Guillaume Martinez, Yasmine Neirijnck, Francoise Kühne, Lydia Wehrli, Nikolai Klena, Virginie Hamel, Lisa De Macedo, Jessica Escoffier, Paul Guichard, Charles Coutton, Selima Fourati Ben Mustapha, Mahmoud Kharouf, Anne-Pacale Bouin, Raoudha Zouari, Nicolas Thierry-Mieg, Serge Nef, Stefan Geimer, Corinne Loeuillet, Pierre F Ray, Christophe Arnoult
From a cohort of 167 infertile patients suffering from multiple morphological abnormalities of the flagellum (MMAF), pathogenic bi-allelic mutations were identified in the CCDC146 gene. In somatic cells, CCDC146 is located at the centrosome and at multiple microtubule-related organelles during mitotic division, suggesting that it is a microtubule-associated protein (MAP). To decipher the molecular pathogenesis of infertility associated with CCDC146 mutations, a Ccdc146 knock-out (KO) mouse line was created...
March 5, 2024: ELife