Zheng Xiaoying, Xie Binling, Chen Dingrui, Jiang Jifan, Zeng Ting, Xiong Lei, Shi Qingying, Xie Hao, Cai Yisheng, Liang Jiaxin, Chen Song, Qu Xiaochao, Xie Huaping
Laboratory of Animal Nutrition and Human Health, Hunan International Joint Laboratory of Animal Intestinal Ecology and Health, College of Life Science, Hunan Normal University, Changsha 410081, China.
Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha 410081, China.
Int J Mol Sci. 2025 May 11;26(10):4604. doi: 10.3390/ijms26104604.
Mutations in the pathogenic gene are known to cause Usher syndrome, affecting both auditory and visual functions. Our previous results provided valuable insights into the mechanisms underlying congenital hearing loss associated with mutations. However, the molecular mechanisms and signaling pathways that influence vision remain largely unknown. In this study, transcriptional sequencing and bioinformatics analysis were conducted to compare gene expression between the control and . Additionally, RT-qPCR experiments were performed to further validate the bioinformatics analysis results. The comparative transcriptomic analysis identified differentially expressed genes associated with photoreceptor degeneration and the mitogen-activated protein kinase (MAPK) signaling pathway. Embryos were subjected to hematoxylin and eosin (H&E) staining to assess their histological changes. The results showed that the retina was morphologically indistinguishable from the control. Apoptosis was assessed using TUNEL staining, which revealed an increase in total cell death in the retina. Our results revealed that the cell death was induced by Ca and MAPK signaling interactions following photoreceptor degeneration. This study provides insights into the mechanisms underlying the role of in vision.
已知致病基因的突变会导致尤塞氏综合征，影响听觉和视觉功能。我们之前的研究结果为与该突变相关的先天性听力损失的潜在机制提供了有价值的见解。然而，影响视觉的分子机制和信号通路在很大程度上仍然未知。在本研究中，进行了转录测序和生物信息学分析，以比较对照组和该组之间的基因表达。此外，进行了逆转录定量聚合酶链反应（RT-qPCR）实验，以进一步验证生物信息学分析结果。比较转录组分析确定了与光感受器退化和丝裂原活化蛋白激酶（MAPK）信号通路相关的差异表达基因。对胚胎进行苏木精和伊红（H&E）染色，以评估其组织学变化。结果表明，该组视网膜在形态上与对照组没有区别。使用末端脱氧核苷酸转移酶介导的缺口末端标记（TUNEL）染色评估细胞凋亡，结果显示该组视网膜中总细胞死亡增加。我们的结果表明，细胞死亡是由光感受器退化后的钙和MAPK信号相互作用诱导的。本研究为该基因在视觉中的作用机制提供了见解。
