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通过生物信息学分析识别与精子发生相关的枢纽基因

Shuang Liu¹, Yan-Chao Bian¹, Wan-Lun Wang¹

¹Inner Mongolia Key Laboratory of Molecular Pathology, Inner Mongolia Medical University, Huhhot, 010059, Inner Mongolia Autonomous Region, China.

Scientific reports

|October 27, 2023

概括

这项研究确定了对精子发生和男性不孕症至关重要的关键基因. 六个枢纽基因得到了验证,为非阻塞性精和丸瘤提供了潜在的治疗标.

科学领域:

生殖生物学生殖生物学
遗传学遗传学是一个
生物信息学是一种生物信息学.

背景情况:

精子生成对男性生育能力至关重要,但其潜在的遗传机制仍然不清楚.
男性不孕症,特别是非阻塞性精子缺血症 (NOA),需要识别关键基因.
了解这些基因可以揭示参与精子生成和相关病理的途径.

研究的目的:

用差异表达基因 (DEGs) 的生物信息学分析来识别精子发生过程中关键的枢纽基因.
为了研究这些枢纽基因在非阻塞性精症 (NOA) 和丸生殖细胞瘤中的作用.
在受损精子生成的实验模型中验证已识别的基因.

主要方法:

对四个公开的基因表达数据集 (GSE45885,GSE45887,GSE9210,GSE145467) 的生物信息分析.
鉴定差异表达基因 (DEGs) 和功能丰富分析.
构建蛋白质与蛋白质相互作用网络以识别枢纽基因,随后使用TCGA (GEPIA) 和qRT-PCR对小鼠进行验证.

主要成果:

在NOA和正常样本之间确定了203个DEG,其中34个是上调的,169个是下调的.
在与微管子运动,细胞生长和蛋白质运输相关的途径中,DEGs被显著丰富.
六个枢纽基因 (PRM2,TEKT2,FSCN3,UBQLN3,SPATS1,GTSF1L) 已被确定和验证;PRM2,FSCN3和TEKT2在丸生殖细胞瘤中被降低调节,并与致病发生相关.

结论:

已识别的枢纽基因对精子生成具有潜在的关键.
这些基因可以作为生物标志物和治疗目标,用于非阻塞性精症 (NOA) 和丸生殖细胞瘤.
对这些基因的进一步研究可以推进男性不孕症和相关癌症的治疗方法.

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