Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
Jana Muroňová, Zine‐Eddine Kherraf, Elsa Giordani, Emeline Lambert, Simon Eckert, Caroline Cazin, Amir Amiri‐Yekta, Magali Court, Geneviève Chevalier, Guillaume Martinez, Yasmine Neirijnck, Françoise Kühne, Lydia Wehrli, Nikolai Klena, Virginie Hamel, , Christophe Arnoult
This study identifies bi-allelic CCDC146 mutations as a cause of non-syndromic male infertility in humans and mice, showing its role in sperm flagellum structure and microtubule organization.
bioRxiv · Feb 27, 2023 · PreprintGenetics