Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

被引:82
作者
Takeda, S
Kondo, M
Sasaki, J
Kurahashi, H
Kano, H
Arai, K
Misaki, K
Fukui, T
Kobayashi, K
Tachikawa, M
Imamura, M
Nakamura, Y
Shimizu, T
Murakami, T
Sunada, Y
Fujikado, T
Matsumura, K
Terashima, T
Toda, T
机构
[1] Osaka Univ, Grad Sch Med, Dept Postgenom & Dis, Div Funct Genom, Suita, Osaka 5650871, Japan
[2] Otsuka Pharmaceut Co Ltd, Otsuka GEN Res Inst, Tokushima 77101, Japan
[3] Teikyo Univ, Sch Med, Dept Neurol, Tokyo 173, Japan
[4] Kobe Univ, Grad Sch Med, Dept Anat & Neurobiol, Kobe, Hyogo 657, Japan
[5] Osaka Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Osaka, Japan
[6] Natl Ctr Neurol & Psychiat, Inst Neurosci, Tokyo, Japan
[7] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Tokyo, Japan
[8] Kawasaki Med Sch, Dept Neurol, Kurashiki, Okayama, Japan
关键词
D O I
10.1093/hmg/ddg153
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
Fukuyama-type congenital muscular dystrophy (FCMD), one of the most common autosomal-recessive disorders in Japan, is characterized by congenital muscular dystrophy associated with brain malformation due to a defect during neuronal migration. Through positional cloning, we previously identified the gene for FCMD, which encodes the fukutin protein. Here we report that chimeric mice generated using embryonic stem cells targeted for both fukutin alleles develop severe muscular dystrophy, with the selective deficiency of alpha-dystroglycan and its laminin-binding activity. In addition, these mice showed laminar disorganization of the cortical structures in the brain with impaired laminin assembly, focal interhemispheric fusion, and hippocampal and cerebellar dysgenesis. Further, chimeric mice showed anomaly of the lens, loss of laminar structure in the retina, and retinal detachment. These results indicate that fukutin is necessary for the maintenance of muscle integrity, cortical histiogenesis, and normal ocular development and suggest the functional linkage between fukutin and alpha-dystroglycan.
引用
收藏
页码:1449 / 1459
页数:11
相关论文
共 35 条
[21]   PRIMARY STRUCTURE OF DYSTROPHIN-ASSOCIATED GLYCOPROTEINS LINKING DYSTROPHIN TO THE EXTRACELLULAR-MATRIX [J].
IBRAGHIMOVBESKROVNAYA, O ;
ERVASTI, JM ;
LEVEILLE, CJ ;
SLAUGHTER, CA ;
SERNETT, SW ;
CAMPBELL, KP .
NATURE, 1992, 355 (6362) :696-702
[22]   A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system [J].
Imamura, M ;
Araishi, K ;
Noguchi, S ;
Ozawa, E .
HUMAN MOLECULAR GENETICS, 2000, 9 (20) :3091-3100
[23]   Deficiency of α-dystroglycan in muscle-eye-brain disease [J].
Kano, H ;
Kobayashi, K ;
Herrmann, R ;
Tachikawa, M ;
Manya, H ;
Nishino, I ;
Nonaka, I ;
Straub, V ;
Talim, B ;
Voit, T ;
Topaloglu, H ;
Endo, T ;
Yoshikawa, H ;
Toda, T .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2002, 291 (05) :1283-1286
[24]   An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy [J].
Kobayashi, K ;
Nakahori, Y ;
Miyake, M ;
Matsumura, K ;
Kondo-Iida, E ;
Nomura, Y ;
Segawa, M ;
Yoshioka, M ;
Saito, K ;
Osawa, K ;
Hamano, K ;
Sakakihara, Y ;
Nonaka, I ;
Nakagome, Y ;
Kanazawa, I ;
Nakamura, Y ;
Tokunaga, K ;
Toda, T .
NATURE, 1998, 394 (6691) :388-392
[25]   Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD) [J].
Kondo-Iida, E ;
Kobayashi, K ;
Watanabe, M ;
Sasaki, J ;
Kumagai, T ;
Koide, H ;
Saito, K ;
Osawa, M ;
Nakamura, Y ;
Toda, T .
HUMAN MOLECULAR GENETICS, 1999, 8 (12) :2303-2309
[26]   A role of dystroglycan in schwannoma cell adhesion to laminin [J].
Matsumura, K ;
Chiba, A ;
Yamada, H ;
FukutaOhi, H ;
Fujita, S ;
Endo, T ;
Kobata, A ;
Anderson, LVB ;
Kanazawa, I ;
Campbell, KP ;
Shimizu, T .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (21) :13904-13910
[27]   DEFICIENCY OF THE 50K DYSTROPHIN-ASSOCIATED GLYCOPROTEIN IN SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY [J].
MATSUMURA, K ;
TOME, FMS ;
COLLIN, H ;
AZIBI, K ;
CHAOUCH, M ;
KAPLAN, JC ;
FARDEAU, M ;
CAMPBELL, KP .
NATURE, 1992, 359 (6393) :320-322
[29]   Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies [J].
Michele, DE ;
Barresi, R ;
Kanagawa, M ;
Saito, F ;
Cohn, RD ;
Satz, JS ;
Dollar, J ;
Nishino, I ;
Kelley, RI ;
Somer, H ;
Straub, V ;
Mathews, KD ;
Moore, SA ;
Campbell, KP .
NATURE, 2002, 418 (6896) :417-422
[30]   Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy [J].
Moore, SA ;
Saito, F ;
Chen, JG ;
Michele, DE ;
Henry, MD ;
Messing, A ;
Cohn, RD ;
Ross-Barta, SE ;
Westra, S ;
Williamson, RA ;
Hoshi, T ;
Campbell, KP .
NATURE, 2002, 418 (6896) :422-425