The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins

被引:63
作者
Gu, WL
Wevers, A
Schröder, H
Grzeschik, KH
Derst, C
Brodtkorb, E
de Vos, R
Steinlein, OK
机构
[1] Univ Hosp Bonn, Inst Human Genet, D-53111 Bonn, Germany
[2] Univ Cologne, Inst Anat 2, D-50931 Cologne, Germany
[3] Univ Marburg, Dept Human Genet, D-35037 Marburg, Germany
[4] Univ Freiburg, Inst Physiol 2, D-79104 Freiburg, Germany
[5] Univ Trondheim Hosp, Dept Neurol, N-7006 Trondheim, Norway
[6] Lab Pathol Oost Nederland, NL-7512 AD Enschede, Netherlands
来源
FEBS LETTERS | 2002年 / 519卷 / 1-3期
关键词
epilepsy; glioma; chromosomal localization; expression profile; gene family;
D O I
10.1016/S0014-5793(02)02713-8
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Recently mutations in the LGI1 (leucine-rich, gliomainactivated 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. (C) 2002 Federation of European Biochemical Societies. Published by Elsevier Science B.V. All rights reserved.
引用
收藏
页码:71 / 76
页数:6
相关论文
共 18 条
[1]   Structural and functional diversity in the leucine rich repeat family of proteins [J].
Buchanan, SGS ;
Gay, NJ .
PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY, 1996, 65 (1-2) :1-44
[2]   A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors [J].
Chernova, OB ;
Somerville, RPT ;
Cowell, JK .
ONCOGENE, 1998, 17 (22) :2873-2881
[3]   Epilepsy research gets new guidance [J].
Cowell, JK .
NATURE MEDICINE, 2002, 8 (03) :219-220
[4]   Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q [J].
Guipponi, M ;
Rivier, F ;
Vigevano, F ;
Beck, C ;
Crespel, A ;
Echenne, B ;
Lucchini, P ;
Sebastianelli, R ;
BaldyMoulinier, M ;
Malafosse, A .
HUMAN MOLECULAR GENETICS, 1997, 6 (03) :473-477
[5]   Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features [J].
Kalachikov, S ;
Evgrafov, O ;
Ross, B ;
Winawer, M ;
Barker-Cummings, C ;
Boneschi, FM ;
Choi, C ;
Morozov, P ;
Das, K ;
Teplitskaya, E ;
Yu, A ;
Cayanis, E ;
Penchaszadeh, G ;
Kottmann, AH ;
Pedley, TA ;
Hauser, WA ;
Ottman, R ;
Gilliam, TC .
NATURE GENETICS, 2002, 30 (03) :335-341
[6]   The leucine-rich repeat as a protein recognition motif [J].
Kobe, B ;
Kajava, AV .
CURRENT OPINION IN STRUCTURAL BIOLOGY, 2001, 11 (06) :725-732
[7]   Loss of a novel tumor suppressor gene locus at chromosome 8p is associated with leukemic mantle cell lymphoma [J].
Martinez-Climent, JA ;
Vizcarra, E ;
Sanchez, D ;
Blesa, D ;
Marugan, I ;
Benet, I ;
Sole, F ;
Rubio-Moscardo, F ;
Terol, MJ ;
Climent, J ;
Sarsotti, E ;
Tormo, M ;
Andreu, E ;
Salido, M ;
Ruiz, MA ;
Prosper, F ;
Siebert, R ;
Dyer, MJS ;
García-Conde, J .
BLOOD, 2001, 98 (12) :3479-3482
[8]  
Mora J, 2001, CLIN CANCER RES, V7, P1358
[9]   Identification in vitreous and molecular cloning of opticin, a novel member of the family of leucine-rich repeat proteins of the extracellular matrix [J].
Reardon, AJ ;
Le Goff, M ;
Briggs, MD ;
McLeod, D ;
Sheehan, JK ;
Thornton, DJ ;
Bishop, PN .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (03) :2123-2129
[10]  
Richard F, 2000, INT J CANCER, V89, P305