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Spermatogenesis involves coordinated processes, including meiosis, to produce functional gametes. We previously reported  Topaz1  as a germ cell-specific gene highly conserved in vertebrates.  Topaz1  knockout males are sterile with testes that lack haploid germ cells because of meiotic arrest after prophase I. To better characterize  Topaz1  –/–  testes, we used RNA-sequencing analyses at two different developmental stages (P16 and P18). The absence of TOPAZ1 disturbed the expression of genes involved in microtubule and/or cilium mobility, biological processes required for spermatogenesis. Moreover, a quarter of P18 dysregulated genes are long non-coding RNAs (lncRNAs), and three of them are testis-specific and located in spermatocytes, their expression starting between P11 and P15. The suppression of one of them,  4939463O16Rik , did not alter fertility although sperm parameters were disturbed and sperm concentration fell. The transcriptome of P18- 4939463O16Rik  –/–  testes was altered and the molecular pathways affected included microtubule-based processes, the regulation of cilium movement and spermatogenesis. The absence of TOPAZ1 protein or  4930463O16Rik  produced the same enrichment clusters in mutant testes despite a contrasted phenotype on male fertility. In conclusion, although  Topaz1  is essential for the meiosis in male germ cells and regulate the expression of numerous lncRNAs, these studies have identified a  Topaz1  regulated lncRNA ( 4930463O16Rik ) that is key for both sperm production and motility.

frontiers in cell and developmental biology

Structural and Functional Characterization of a Testicular Long Non-coding RNA (4930463O16Rik) Identified in the Meiotic Arrest of the Mouse Topaz1–/– Testes