Infertility affects roughly 8–12 % of couples worldwide, and in above 50 % of couples, male factors are the primary or contributing cause. Many long noncoding RNAs (lncRNAs) are detected in the testis, but their functions are not well understood. CIRBIL was 862 nucleotides in length and was found to be localized mostly in the cytosol of Leydig cell, a small portion was positioned inside the seminiferous tubules. Loss of CIRBIL in mice resulted in male subfertility, characterized by smaller testis and increased germ cell apoptosis. Deletion of CIRBIL significant decreased the number of sperm and impaired the integrity of sperm head and tail. In CIRBIL KO mice, testosterone levels in serum and expression of testosterone biosynthesis genes (STAR and 3β-HSD) were both reduced. Gene Ontology (GO) term and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway were primarily enriched in steroid synthesis process in CIRBIL-binding proteins. Protein-protein (PPI) interaction networks revealed that both cis- and trans-regulated target genes of CIRBIL were associated with testosterone synthesis. Collectively, our results strongly suggest that CIRBIL is a regulator of steroid hormone synthesis.

全球约 8% 至 12% 的夫妇患有不孕症，其中 50% 以上的夫妇中，男性因素是主要原因或促成因素。在睾丸中检测到许多长非编码 RNA (lncRNA)，但它们的功能尚不清楚。CIRBIL长度为862个核苷酸，被发现主要定位于Leydig细胞的胞浆中，一小部分位于生精小管。小鼠体内 CIRBIL 的缺失会导致雄性生育能力低下，其特点是睾丸变小和生殖细胞凋亡增加。CIRBIL 的缺失显着减少了精子的数量并损害了精子头部和尾部的完整性。CIRBIL KO 小鼠血清中睾酮水平和睾酮生物合成的表达基因（STAR 和 3β-HSD）均减少。基因本体论（GO）术语和京都基因与基因组百科全书（KEGG）途径主要富集于CIRBIL结合蛋白中的类固醇合成过程。蛋白质-蛋白质（PPI）相互作用网络显示 CIRBIL 的顺式和反式调节靶基因均与睾酮合成相关。总的来说，我们的结果强烈表明 CIRBIL 是类固醇激素合成的调节剂。