Gu Wenli, Wevers Andrea, Schröder Hannsjörg, Grzeschik Karl Heinz, Derst Christian, Brodtkorb Eylert, de Vos Rob, Steinlein Ortrud K
Institute of Human Genetics, University Hospital Bonn, Wilhelmstrasse 31, Bonn, Germany.
FEBS Lett. 2002 May 22;519(1-3):71-6. doi: 10.1016/s0014-5793(02)02713-8.
Recently mutations in the LGI1 (leucine-rich, glioma-inactivated 1) gene have been found in human temporal lobe epilepsy. We have now identified three formerly unknown LGI-like genes. Hydropathy plots and pattern analysis showed that LGI genes encode proteins with large extra- and intracellular domains connected by a single transmembrane region. Sequence analysis demonstrated that LGI1, LGI2, LGI3, and LGI4 form a distinct subfamily when compared to other leucine-rich repeat-containing proteins. In silico mapping and radiation hybrid experiments assigned LGI2, LGI3, and LGI4 to different chromosomal regions (4p15.2, 8p21.3, 19q13.11), some of which have been implicated in epileptogenesis and/or tumorigenesis.
最近，在人类颞叶癫痫中发现了LGI1（富含亮氨酸的胶质瘤失活1）基因突变。我们现已鉴定出三个以前未知的LGI样基因。亲水性图谱和模式分析表明，LGI基因编码的蛋白质具有通过单个跨膜区域连接的大的细胞外和细胞内结构域。序列分析表明，与其他富含亮氨酸重复序列的蛋白质相比，LGI1、LGI2、LGI3和LGI4形成一个独特的亚家族。电子定位和辐射杂种实验将LGI2、LGI3和LGI4定位到不同的染色体区域（4p15.2、8p21.3、19q13.11），其中一些区域与癫痫发生和/或肿瘤发生有关。
