Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome
Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome
复制标题
瓦登堡综合征模型中血管纹的转录谱
DOI：
10.1155/2020/2908182
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发表时间：
2020-08-01
影响因子：
3.1
通讯作者：
Yang, Shiming
中科院分区：
文献类型：
--
作者：
Chen, Linjun;Wang, Lin;Yang, Shiming
背景 瓦登堡综合征是一种罕见的遗传性疾病，其特征是至少某种程度的先天性听力损失和色素沉着缺陷。然而，影响血管纹发育的遗传途径尚未完全阐明。方法利用Mitf-M突变猪和小鼠模型研究Waardenburg综合征血管纹的转录谱。因此，进行GO分析来鉴定Mitf-M突变引起的差异基因表达。结果 猪模型中有113个与酪氨酸代谢、黑色素形成和离子运输有关的基因出现显着变化，小鼠模型中有191个基因出现显着变化。此外，小鼠和猪模型的血管纹中也出现了一些香料特有的基因变化。与小鼠模型相比，猪模型中紧密连接相关基因（包括 Cadm1、Cldn11、Pcdh1、Pcdh19 和 Cdh24 基因）的表达显着较高。两个物种之间血管纹中的血管相关和离子通道相关基因也显示出显着差异。与小鼠模型相比，猪模型中 Col2a1、Col3a1、Col11a1 和 Col11a2 基因的表达量较高，而 Col8a2、Cd34 和 Ncam 基因的表达量较低。结论我们的数据表明这两个模型之间的基因表达和功能存在显着差异。
Background Waardenburg syndrome is an uncommon genetic condition characterized by at least some degree of congenital hearing loss and pigmentation deficiencies. However, the genetic pathway affecting the development of stria vascularis is not fully illustrated. Methods The transcript profile of stria vascularis of Waardenburg syndrome was studied using Mitf-M mutant pig and mice models. Therefore, GO analysis was performed to identify the differential gene expression caused by Mitf-M mutation. Results There were 113 genes in tyrosine metabolism, melanin formation, and ion transportations showed significant changes in pig models and 191 genes in mice models. In addition, there were some spice's specific gene changes in the stria vascularis in the mouse and porcine models. The expression of tight junction-associated genes, including Cadm1, Cldn11, Pcdh1, Pcdh19, and Cdh24 genes, were significantly higher in porcine models compared to mouse models. Vascular-related and ion channel-related genes in the stria vascularis were also shown significantly difference between the two species. The expression of Col2a1, Col3a1, Col11a1, and Col11a2 genes were higher, and the expression of Col8a2, Cd34, and Ncam genes were lower in the porcine models compared to mouse models. Conclusions Our data suggests that there is a significant difference on the gene expression and function between these two models.