Chen Linjun, Wang Lin, Chen Lei, Wang Fangyuan, Ji Fei, Sun Wei, Zhao Hui, Han Weiju, Yang Shiming
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China.
Nursing Department, Hainan Hospital of Chinese PLA General Hospital, Sanya 572013, China.
Neural Plast. 2020 Aug 1;2020:2908182. doi: 10.1155/2020/2908182. eCollection 2020.
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.
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.
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.
Our data suggests that there is a significant difference on the gene expression and function between these two models.
瓦登伯革氏综合征是一种罕见的遗传性疾病，其特征是至少有一定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。
使用Mitf-M突变猪和小鼠模型研究瓦登伯革氏综合征血管纹的转录谱。因此，进行基因本体（GO）分析以鉴定由Mitf-M突变引起的差异基因表达。
在猪模型中，酪氨酸代谢、黑色素形成和离子转运方面有113个基因显示出显著变化，在小鼠模型中有191个基因。此外，在小鼠和猪模型的血管纹中存在一些特定物种的基因变化。与小鼠模型相比，紧密连接相关基因（包括Cadm1、Cldn11、Pcdh1、Pcdh19和Cdh24基因）在猪模型中的表达显著更高。血管纹中与血管相关和离子通道相关的基因在两个物种之间也显示出显著差异。与小鼠模型相比，猪模型中Col2a1、Col3a1、Col11a1和Col11a2基因的表达较高，而Col8a2、Cd34和Ncam基因的表达较低。
我们的数据表明这两种模型在基因表达和功能上存在显著差异。
