Lu Zongyang, Li Jie, Lu Yong, Li Ling, Wang Wei, Zhang Chenchen, Xu Libing, Nie Yanhong, Gao Changshan, Bian Xinyan, Liu Zhen, Wang Guang-Zhong, Sun Qiang
Institute of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, CAS Key Laboratory of Primate Neurobiology, State Key Laboratory of Neuroscience, Chinese Academy of Sciences, Shanghai 200031, China.
Shanghai Center for Brain Science and Brain-Inspired Intelligence Technology, Shanghai 201210, China.
Innovation (Camb). 2023 May 2;4(3):100436. doi: 10.1016/j.xinn.2023.100436. eCollection 2023 May 15.
Genomic imprinting can lead to allele-specific expression (ASE), where one allele is preferentially expressed more than the other. Perturbations in genomic imprinting or ASE genes have been widely observed across various neurological disorders, notably autism spectrum disorder (ASD). In this study, we crossed rhesus cynomolgus monkeys to produce hybrid monkeys and established a framework to evaluate their allele-specific gene expression patterns using the parental genomes as a reference. Our proof-of-concept analysis of the hybrid monkeys identified 353 genes with allele-biased expression in the brain, enabling us to determine the chromosomal locations of ASE clusters. Importantly, we confirmed a significant enrichment of ASE genes associated with neuropsychiatric disorders, including ASD, highlighting the potential of hybrid monkey models in advancing our understanding of genomic imprinting.
基因组印记可导致等位基因特异性表达（ASE），即一个等位基因比另一个等位基因优先表达更多。在各种神经疾病中，尤其是自闭症谱系障碍（ASD），广泛观察到基因组印记或ASE基因的扰动。在本研究中，我们让恒河猴杂交产生杂种猴，并建立了一个以亲本基因组为参考来评估其等位基因特异性基因表达模式的框架。我们对杂种猴的概念验证分析鉴定出353个在大脑中具有等位基因偏向性表达的基因，使我们能够确定ASE簇的染色体位置。重要的是，我们证实了与神经精神疾病（包括ASD）相关的ASE基因显著富集，突出了杂种猴模型在增进我们对基因组印记理解方面的潜力。
