RNA-Seq data from V321L mouse dentate gyrus (DG)

Schizophrenia is a complex genetic neurodevelopmental disorder. eQTLs form bulk of the genetic variation contributing to schizophrenia. However, there is no known mechanism explaining regulation of expression of eQTL associated risk genes and underlying neurodevelopmental processes that are part of the cellular pathology. Neuregulin1-ErbB4 signaling plays a crucial role in synaptogenesis and has been implicated in schizophrenia. Gamma secretase mediated NRG1 nuclear back-signaling is thought to be involved in transcriptional regulation. A psychosis-associated missense mutation in NRG1 (rs74942016) has been predicted to impair nuclear back-signaling thereby implicating this mode of signaling in the underlying cellular pathology. 12 samples - 6 VV control, 6 LL mutants (3Male/3Female per genotype)精神分裂症是一种复杂的遗传性神经发育障碍。表达数量性状基因座（expression quantitative trait locus，eQTL）构成了与精神分裂症相关的遗传变异的主体。然而，目前尚无明确机制阐释eQTL相关的风险基因的表达调控，以及作为细胞病理组成部分的潜在神经发育过程。神经调节蛋白1-ErbB4信号通路在突触发生中发挥关键作用，且已被证实与精神分裂症的发病相关。γ-分泌酶介导的NRG1核反向信号转导被认为参与转录调控。此前研究预测，NRG1基因中一处与精神病相关的错义突变（rs74942016）可损伤其核反向信号转导能力，进而提示该信号模式参与了潜在的细胞病理过程。本数据集共包含12个样本：6个VV型对照样本，6个LL型突变样本，每个基因型均包含3只雄性、3只雌性个体。