Background

Cryptorchidism is the most common congenital defect in children's genitourinary system. Decades of research have identified both environmental and genetic factors contribute to the etiology.

Methods

Small-RNA/mRNA-seq were performed on testicular tissues from cryptorchidism patients. Downstream analysis included mRNA expression, piRNA expression and miRNA expression.

Results

We find a global downregulation of repeated element related piRNA expression as well as a global 3’UTR shortening of mRNAs in patients with cryptorchidism. We also find that genes with shortened 3’UTR which are highly enriched in vascular endothelial growth and protein ubiquitination, tend to be up-regulated in cryptorchidism. These results indicate that boys with cryptorchidism may not have normal piRNA functions to protect developmental tissues from transposon invasion. Dysregulated shortened 3’UTR genes may affect normal testicular tissue development.

Conclusion

In summary, our findings also provided the first landscape of gene regulation in cryptorchidism, especially in terms of post-transcriptional regulations.

中文翻译：

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全球 3'UTR 缩短和重复元素相关 piRNA 的下调在男孩隐睾症中起关键作用

背景

隐睾症是儿童泌尿生殖系统最常见的先天性缺陷。数十年的研究已经确定了导致病因的环境和遗传因素。

方法

对来自隐睾症患者的睾丸组织进行小 RNA/mRNA-seq。下游分析包括mRNA表达、piRNA表达和miRNA表达。

结果

我们发现隐睾患者中重复元件相关的 piRNA 表达普遍下调以及 mRNA 的整体 3'UTR 缩短。我们还发现，在血管内皮生长和蛋白质泛素化中高度富集的 3'UTR 缩短的基因在隐睾症中趋于上调。这些结果表明，患有隐睾症的男孩可能没有正常的 piRNA 功能来保护发育组织免受转座子入侵。失调的缩短的 3'UTR 基因可能会影响正常睾丸组织的发育。

结论

总之，我们的研究结果还提供了隐睾症基因调控的第一个景观，特别是在转录后调控方面。