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

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 6 and 10 months old knock-in mice with CAG lengths of 20, 50, 92, 140 along with littermate control wild-type animals miRNA expression profiles were obtained via RNA-seq analysis performed on samples from the Striatum tissue of 6 and 10 months old knock-in mice with CAG lengths of 20, 50, 92, 140 along with littermate control wild-type animals.亨廷顿舞蹈症（Huntington's disease, HD）是一种常染色体显性遗传的神经退行性疾病，以运动、认知及精神行为异常为典型临床特征。引发该病的致病突变为编码亨廷顿蛋白（huntingtin, Htt）的基因编码区中存在异常扩增且不稳定的CAG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（Hdh）所构建的HD敲入小鼠模型，可在小鼠体内实现人类致病突变的遗传重构。本研究的实验目标为：通过RNA测序（RNA-seq）对6月龄与10月龄、CAG重复长度分别为20、50、92、140的敲入小鼠及同窝野生型对照动物的纹状体（Striatum）组织样本开展RNA表达谱分析；同时采用RNA-seq技术对上述基因型小鼠与对照动物的纹状体组织样本进行检测，以获取microRNA（miRNA）表达谱。