The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins.
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.
Gu
Wenli
W
Institute of Human Genetics, University Hospital Bonn, Wilhelmstrasse 31, Bonn, Germany.
Wevers
Andrea
A
Schröder
Hannsjörg
H
Grzeschik
Karl Heinz
KH
Derst
Christian
C
Brodtkorb
Eylert
E
de Vos
Rob
R
Steinlein
Ortrud K
OK
D000293:Adolescent; D000328:Adult; D002648:Child; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003001:Cloning, Molecular; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D005625:Frontal Lobe / Q000166:cytology / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007930:Leucine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D005810:Multigene Family; D009419:Nerve Tissue Proteins; D009928:Organ Specificity; D010802:Phylogeny; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000096:biosynthesis; D021101:Radiation Hybrid Mapping; D020449:Repetitive Sequences, Amino Acid / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D013702:Temporal Lobe / Q000166:cytology / Q000378:metabolism
D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; C456923:LGI2 protein, human; C456924:LGI3 protein, human; D009419:Nerve Tissue Proteins; D011506:Proteins; D012333:RNA, Messenger; D007930:Leucine