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Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys


时间:2017年06月22日信息来源:本站原创 点击: 【字体:

类型      论文
题目      Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys
作者      Yongchang Chen, Juehua Yu, Yuyu Niu, Dongdong Qin, Hailiang Liu, Gang Li, Yingzhou Hu, Jiaojian Wang
联系作者      Yongchang Chen
发表年度(授权日期)      2017
卷(专利号)      169
期      5
页码      945–955
摘要      Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a neurodevelopmental disorder, Rett syndrome (RTT), which is caused by loss-of-function mutations in the human MECP2 gene. Male mutant monkeys were embryonic lethal, reiterating that RTT is a disease of females. Through a battery of behavioral analyses, including primate-unique eye-tracking tests, in combination with brain imaging via MRI, we found a series of physiological, behavioral, and structural abnormalities resembling clinical manifestations of RTT. Moreover, blood transcriptome profiling revealed that mutant monkeys resembled RTT patients in immune gene dysregulation. Taken together, the stark similarity in phenotype and/or endophenotype between monkeys and patients suggested that gene-edited RTT founder monkeys would be of value for disease mechanistic studies as well as development of potential therapeutic interventions for RTT.
刊物名称      Cell
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