Abstract
Spermatogonial stem cells (SSCs) have the dual capacity to self-renew and differentiate into progenitor spermatogonia that develop into mature spermatozoa. Here, we document that preferentially expressed antigen of melanoma family member 12 (PRAMEF12) plays a key role in maintenance of the spermatogenic lineage. In male mice, genetic ablation of Pramef12 arrests spermatogenesis and results in sterility which can be rescued by transgenic expression of Pramef12. Pramef12 deficiency globally decreases expression of spermatogenic-related genes, and single-cell transcriptional analysis of post-natal male germline cells identifies four spermatogonial states. In the absence of Pramef12 expression, there are fewer spermatogonial stem cells which exhibit lower expression of SSC maintenance-related genes and are defective in their ability to differentiate. The disruption of the first wave of spermatogenesis in juvenile mice results in agametic seminiferous tubules. These observations mimic a Sertoli cell-only syndrome in humans and may have translational implications for reproductive medicine.
Highlights
Spermatogonial stem cells (SSCs) have the dual capacity to self-renew and differentiate into progenitor spermatogonia that develop into mature spermatozoa
SSCs are derived from gonocytes that arise from primordial germ cells (PGCs) formed in the proximal epiblast during embryogenesis[3,4,5,6]
Pramef12−/− males from each mutant line exhibited similar characteristics of testicular hypoplasia (Supplementary Fig. 1e, f), and subsequent studies were focused on the line containing a 37 bp deletion, which we refer to as Pramef12Null and use heterozygous null mice from the same line as controls
Summary
Spermatogonial stem cells (SSCs) have the dual capacity to self-renew and differentiate into progenitor spermatogonia that develop into mature spermatozoa. The disruption of the first wave of spermatogenesis in juvenile mice results in agametic seminiferous tubules. These observations mimic a Sertoli cell-only syndrome in humans and may have translational implications for reproductive medicine. Lifelong testicular spermatogenesis depends on the presence of spermatogonial stem cells (SSCs) as well as their amplification and transition into progenitor and differentiating spermatogonia[1,2]. In the classic Asingle model, the daughters of a dividing As cell either contribute to maintenance of the SSC pool or begin to differentiate.
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