Reiner Orly, Sapoznik Sivan, Sapir Tamar
Department of Molecular Genetics, The Weizmann Institute of Science, 76100 Rehovot, Israel.
Neuromolecular Med. 2006;8(4):547-65. doi: 10.1385/NMM:8:4:547.
Lissencephaly 1 (LIS1) was the first gene implicated in the pathogenesis of type-1 lissencephaly. More than a decade of research by multiple laboratories has revealed that LIS1 is a key node protein, which participates in several pathways, including association with the molecular motor cytoplasmic dynein, the reelin signaling pathway, and the platelet-activating factor pathway. Mutations in LIS1-interacting proteins, either in human, or in mouse models has suggested that LIS1 might play a role in the pathogenesis of numerous diseases such as male sterility, schizophrenia, neuronal degeneration, and viral infections.
无脑回畸形 1(LIS1)是首个被认为与 1 型无脑回畸形发病机制相关的基因。多个实验室历经十多年的研究表明,LIS1 是一种关键节点蛋白,它参与了多条信号通路,包括与分子马达胞质动力蛋白的结合、Reelin 信号通路以及血小板活化因子信号通路。在人类或小鼠模型中,与 LIS1 相互作用蛋白的突变表明,LIS1 可能在众多疾病的发病机制中发挥作用,如男性不育、精神分裂症、神经元变性和病毒感染。