Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development

被引:42
作者
Sweeney, KJ
Clark, GD
Prokscha, A
Dobyns, WB
Eichele, G
机构
[1] Max Planck Inst Expt Endocrinol, D-30625 Hannover, Germany
[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA
[4] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA
[5] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
关键词
lissencephaly; Miller-Dieker syndrome; LIS1; 29; kDa; 30; PAFAH1B; PAFAH1B1; PAFAH1B2; PAFAH1B3; neuronal migration; WD40 repeat protein; yeast two-hybrid; heterotrimeric complex; beta-propeller structure; cortical malformation; platelet-activating factor; brain development; mutation;
D O I
10.1016/S0925-4773(00)00242-2
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Human brain malformations, such as Miller-Dieker syndrome (MDS) or isolated lissencephaly sequence (ILS) may result from abnormal neuronal migration during brain development. MDS and ILS patients have a hemizygous deletion or mutation in the LIS1 gene (PAFAH1B1), therefore, the LIS1 encoded protein (Lis1) may play a role in neuronal migration. Lis1 is a subunit of a brain platelet-activating factor acetylhydrolase (PAFAH1B) where it forms a heterotrimeric complex with two hydrolase subunits, referred to as 29 kDa (PAFAH1B3) and 30 kDa (PAFAH1B2). In order to determine whether this heterotrimer is required for the developmental functions of PAFAH1B, we examined the binding properties of 29 and 30 kDa subunits Co mutant Lis1 proteins. The results defined the critical regions of Lisl for PAFAH1B complex formation and demonstrated that all human LIS1 mutations examined resulted in abolished or reduced capacity of Lis1 to interact with the 29 and 30 kDa subunits, suggesting that the PAFAH1B complex participates in the process of neuronal migration. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.
引用
收藏
页码:263 / 271
页数:9
相关论文
共 52 条
[1]   PAF analogues capable of inhibiting PAF acetylhydrolase activity suppress migration of isolated rat cerebellar granule cells [J].
Adachi, T ;
Aoki, J ;
Manya, H ;
Asou, H ;
Arai, H ;
Inoue, K .
NEUROSCIENCE LETTERS, 1997, 235 (03) :133-136
[2]   Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor [J].
Albrecht, U ;
AbuIssa, R ;
Ratz, B ;
Hattori, M ;
Aoki, J ;
Arai, H ;
Inoue, K ;
Eichele, G .
DEVELOPMENTAL BIOLOGY, 1996, 180 (02) :579-593
[3]  
Bix GJ, 1998, J NEUROSCI, V18, P307
[4]   TIME OF ORIGIN OF CORRESPONDING CELL CLASSES IN CEREBRAL-CORTEX OF NORMAL AND REELER MUTANT MICE - AUTORADIOGRAPHIC ANALYSIS [J].
CAVINESS, VS ;
SIDMAN, RL .
JOURNAL OF COMPARATIVE NEUROLOGY, 1973, 148 (02) :141-151
[5]   Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures, and adult lethality [J].
Chae, T ;
Kwon, YT ;
Bronson, R ;
Dikkes, P ;
Li, E ;
Tsai, LH .
NEURON, 1997, 18 (01) :29-42
[6]   Platelet-activating factor produces neuronal growth cone collapse [J].
Clark, GD ;
McNeil, RS ;
Bix, GJ ;
Swann, JW .
NEUROREPORT, 1995, 6 (18) :2569-2575
[7]   Reelin is a ligand for lipoprotein receptors [J].
D'Arcangelo, G ;
Homayouni, R ;
Keshvara, L ;
Rice, DS ;
Sheldon, M ;
Curran, T .
NEURON, 1999, 24 (02) :471-479
[8]  
des Portes V, 1998, CELL, V92, P51
[9]   LISSENCEPHALY - A HUMAN BRAIN MALFORMATION ASSOCIATED WITH DELETION OF THE LIS1 GENE LOCATED AT CHROMOSOME-17P13 [J].
DOBYNS, WB ;
REINER, O ;
CARROZZO, R ;
LEDBETTER, DH .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1993, 270 (23) :2838-2842
[10]  
Fogli A, 1999, ANN NEUROL, V45, P154, DOI 10.1002/1531-8249(199902)45:2<154::AID-ANA4>3.0.CO