Transcriptomic analysis of DSG2-W2A mouse heart tissue

Transcriptomic analysis of DSG2-W2A mouse heart tissue. In DSG2-W2A mice, adhesion of the desmosomal molecule desmoglein-2 (DSG2) is abrogated via mutation of its' major interaction mechanism (so-called "tryptophan swap" (Harrison, Brasch et al. 2016)). Adult DSG2-W2A mut/mut mice resemble the phenotype of Arrhythmogenic Cardiomyopathy (ACM or ARVC) with biventricular fibrosis, impaired systolic output function and arrhythmia. This phenotype was present in mutant mice analysed at the age of 9 weeks compared to 5-days old hearts, which showed no morphological alterations. Ventricular mRNA profiles of 5-day and 9-weeks old wild type (wt) and Dsg2-W2A homozygouse mutant (mut) miceDSG2-W2A小鼠心脏组织的转录组学分析。在DSG2-W2A小鼠中，桥粒分子桥粒芯糖蛋白2（desmoglein-2，DSG2）的黏附功能会因自身主要相互作用机制（即所谓的“色氨酸互换（tryptophan swap）”，Harrison、Brasch等人2016年的研究）发生突变而丧失。成年DSG2-W2A纯合突变（mut/mut）小鼠会呈现致心律失常性心肌病（Arrhythmogenic Cardiomyopathy，ACM/ARVC）表型，伴随双心室纤维化、收缩输出功能受损及心律失常。与未出现任何形态学改变的5日龄心脏样本相比，该表型在9周龄的突变小鼠中得以体现。本数据集涵盖5日龄及9周龄野生型（wild type，wt）与Dsg2-W2A纯合突变（mut）小鼠的心室mRNA表达谱。