AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.

ABSTRACT: Dynein complexes are large, multi-unit assemblies involved in many biological processes via their critical roles in protein transport and axoneme motility. Using next-generation sequencing of infertile men presenting with low or no sperm in their ejaculates, we identified damaging variants in the dynein-related gene AXDND1. We thus hypothesised that AXDND1 is a critical regulator of male fertility. To test this hypothesis, we produced a knockout mouse model. Axdnd1^-/- males were sterile at all ages but presented with an evolving testis phenotype wherein they could undergo one round of histologically replete spermatogenesis followed by a rapid depletion of the seminiferous epithelium. Marker experiments identified a role for AXDND1 in maintaining the balance between differentiati

SUBMITTER: Houston BJ 

PROVIDER: S-EPMC11245616 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature