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 including male fertility via their critical roles in protein transport and axoneme motility. Previously we identified a pathogenic variant in the dynein gene AXDND1 in an infertile man. Subsequently we identified an additional four potentially compound heterozygous variants of unknown significance in AXDND1 in two additional infertile men. We thus tested the role of AXDND1 in mammalian male fertility by generating a knockout mouse model. Axdnd1^-/- males were sterile at all ages but could undergo one round of histologically complete spermatogenesis. Subsequently, a progressive imbalance of spermatogonial commitment to spermatogenesis over self-renewal occurred, ultimately

SUBMITTER: Houston BJ 

PROVIDER: S-EPMC10680566 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature