期刊论文详细信息
FEBS Letters
The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine‐rich repeat proteins
Gu, Wenli4  Schröder, Hannsjörg2  de Vos, Rob1  Steinlein, Ortrud K4  Wevers, Andrea2  Brodtkorb, Eylert3  Derst, Christian5  Grzeschik, Karl-Heinz6 
[1] Laboratorium Pathologie Oost Nederland, Burgemeester Edo Bergsmalaan 1, 7512 AD Enschede, The Netherlands;Institute for Anatomy II, Neuroanatomy, University of Cologne, Joseph-Stelzmann Strasse 9, 50931 Cologne, Germany;Department of Neurology, Trondheim University Hospital, N-7006 Trondheim, Norway;Institute of Human Genetics, University Hospital Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany;Institute of Physiology II, University of Freiburg, Herman Herder Strasse 7, 79104 Freiburg, Germany;Department of Human Genetics, University of Marburg, Bahnhofstrasse 7, 35037 Marburg, Germany
关键词: Epilepsy;    Glioma;    Chromosomal localization;    Expression profile;    Gene family;    ADLTE;    autosomal dominant lateral temporal lobe epilepsy;    BLAT;    basic local alignment tool;    EST;    expressed sequence tag;    HUSAR;    Heidelberg Unix Sequence Analysis Resources;    LGI;    leucine-rich glioma-inactivated;    LRR;    leucine-rich repeat;    tBLASTn;    translated basic local alignment search tool nucleotide;   
DOI  :  10.1016/S0014-5793(02)02713-8
学科分类:生物化学/生物物理
来源: John Wiley & Sons Ltd.
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【 摘 要 】

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.

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