HRA000317
(Controlled Access)
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Autophagy has been implicated to be involved in spermatogenesis and dysfunction of autophagy can lead to male infertility. However, sophisticated transcriptional signatures of autophagic genes in spermatogenesis and its significance remain uncharacterized. Here, we explore the transcriptional profiling of autophagy-related genes across human spermatogenesis in donors with normal fertility and nonobstructive azoospermia (NOA) patient using single-cell RNA sequencing (scRNA-seq) analysis. Core component gene sets in each step of autophagy exhibit stage-specific expression pattern in human spermatogenesis, which is further confirmed by immunostaining; in this context, we further uncover a unique stage-specific enrichment of a cohort autophagy-related genes. Human-to-mouse comparison analysis reveals that this stage-specific expression pattern of autophagy-related genes is highly conserved in mammals and dysregulation of this pattern is associated with human male infertility. |