Medical School, Institute of Reproductive Medicine, Nantong University, Nantong, 226001, Jiangsu, China.
Singleron Biotechnologies Ltd., 211 Pubin Road, Nanjing, Jiangsu, People's Republic of China.
J Assist Reprod Genet. 2020 Apr;37(4):789-802. doi: 10.1007/s10815-020-01716-7. Epub 2020 Feb 13.
To determine associations between genomic DNA methylation in testicular cells and azoospermia in human males.
This was a case-control study investigating the differences and conservations in DNA methylation, genome-wide DNA methylation, and bulk RNA-Seq for transcriptome profiling using testicular biopsy tissues from NOA and OA patients. Differential methylation and different conserved methylation regions associated with azoospermia were identified by comparing genomic DNA methylation of testicular seminiferous cells derived from NOA and OA patients.
The genome methylation modification of testicular cells from NOA patients was disordered, and the reproductive-related gene expression was significantly different.
Our findings not only provide valuable knowledge of human spermatogenesis but also paved the way for the identification of genes/proteins involved in male germ cell development. The approach presented in this report provides a powerful tool to identify responsible biomolecules, and/or cellular changes (e.g., epigenetic abnormality) that induce male reproductive dysfunction such as OA and NOA.
确定人类男性睾丸细胞基因组 DNA 甲基化与无精子症之间的关联。
这是一项病例对照研究，通过比较来自 NOA 和 OA 患者的睾丸活检组织，研究 DNA 甲基化、全基因组 DNA 甲基化和用于转录组分析的大量 RNA-Seq 之间的差异和保守性。通过比较来自 NOA 和 OA 患者的睾丸生精细胞的基因组 DNA 甲基化，鉴定与无精子症相关的差异甲基化和不同保守甲基化区域。
NOA 患者睾丸细胞的基因组甲基化修饰紊乱，与生殖相关的基因表达存在显著差异。
我们的研究结果不仅提供了有关人类精子发生的有价值的知识，也为鉴定参与男性生殖细胞发育的基因/蛋白铺平了道路。本报告中提出的方法提供了一种强大的工具，可用于鉴定导致男性生殖功能障碍（如 OA 和 NOA）的相关生物分子和/或细胞变化（例如，表观遗传异常）。
