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.

中文翻译：

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Waardenburg综合征模型中的血管纹的转录谱。

背景。Waardenburg综合征是一种罕见的遗传病，其特征是至少某种程度的先天性听力损失和色素沉着不足。但是，尚未完全阐明影响血管纹发育的遗传途径。方法。使用Mitf-M突变猪和小鼠模型研究了Waardenburg综合征血管纹的转录谱。因此，进行GO分析以鉴定由Mitf-M突变引起的差异基因表达。结果。酪氨酸代谢，黑色素形成和离子转运中有113个基因，在猪模型中有显着变化，在小鼠模型中有191个基因。另外，在小鼠和猪模型中，血管纹层中有一些香料的特定基因变化。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）的表达明显更高。血管纹中的血管相关基因和离子通道相关基因也显示出两个物种之间的显着差异。与小鼠模型相比，猪模型中Col2a1，Col3a1，Col11a1和Col11a2基因的表达较高，而Col8a2，Cd34和Ncam基因的表达则较低。结论。我们的数据表明，这两种模型之间的基因表达和功能存在显着差异。