Journal Article

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

Satoshi Takeda, Mari Kondo, Junko Sasaki, Hiroki Kurahashi, Hiroki Kano, Ken Arai, Kazuyo Misaki, Takehiko Fukui, Kazuhiro Kobayashi, Masaji Tachikawa, Michihiro Imamura, Yusuke Nakamura, Teruo Shimizu, Tatsufumi Murakami, Yoshihide Sunada, Takashi Fujikado, Kiichiro Matsumura, Toshio Terashima and Tatsushi Toda

in Human Molecular Genetics

Volume 12, issue 12, pages 1449-1459
Published in print June 2003 | ISSN: 0964-6906
Published online June 2003 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddg153
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

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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 α-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 α-dystroglycan.

Journal Article.  5356 words.  Illustrated.

Subjects: Genetics and Genomics

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