Transcriptome profiling in knock-in mouse models of Huntington's disease [Liver_mRNA]

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that is characterized by motor, cognitive, and psychiatric alterations. The mutation responsible for this disease is an abnormally expanded and unstable CAG repeat within the coding region of the gene encoding huntingtin (Htt). Knock-in mouse models of HD with human exon 1 containing expanded CAG repeats inserted in the murine huntingtin gene (Hdh) provide a genetic reconstruction of the human causative mutation within the mouse model. The goal of this study is RNA expression profiling by RNA sequencing (RNA-seq) in 2, 6, and 10 month old knock-in mice with CAG lengths of 20, 80, 92, 111, 140, 175 along with littermate control wild-type animals mRNA expression profiles were obtained via RNA-seq analysis performed on tissue samples from the liver of 2, 6, and 10 month old knock-in mice with CAG lengths of 20, 80, 92, 111, 140, 175 along with littermate control wild-type animals.亨廷顿舞蹈病（Huntington's disease, HD）是一类常染色体显性遗传性神经退行性疾病，以运动、认知及精神行为异常为典型特征。引发该疾病的致病突变为编码亨廷顿蛋白（huntingtin, Htt）的基因的编码区中，存在异常扩增且不稳定的CAG三核苷酸重复序列。将携带有扩增CAG重复序列的人类外显子1插入小鼠亨廷顿基因（murine huntingtin gene, Hdh）所构建的HD敲入小鼠模型（knock-in mouse models），可在小鼠体内重现人类致病突变的遗传背景。本研究的核心目标为：针对2、6、10月龄，CAG重复长度分别为20、80、92、111、140、175的HD敲入小鼠及其同窝野生型对照动物，采集其肝脏组织样本并通过RNA测序（RNA-seq）开展RNA表达谱分析，以获取相应的mRNA表达谱数据。