論文

査読有り
2012年1月

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro

DEVELOPMENTAL BIOLOGY
  • Misato Fujita
  • ,
  • Hiroaki Mitsuhashi
  • ,
  • Sumio Isogai
  • ,
  • Takahiro Nakata
  • ,
  • Atsushi Kawakami
  • ,
  • Ikuya Nonaka
  • ,
  • Satoru Noguchi
  • ,
  • Yukiko K. Hayashi
  • ,
  • Ichizo Nishino
  • ,
  • Akira Kudo

361
1
開始ページ
79
終了ページ
89
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.ydbio.2011.10.008
出版者・発行元
ACADEMIC PRESS INC ELSEVIER SCIENCE

Filamin C is an actin-crosslinking protein that is specifically expressed in cardiac and skeletal muscles. Although mutations in the filamin C gene cause human myopathy with cardiac involvement, the function of filamin C in vivo is not yet fully understood. Here we report a medaka mutant, zacro (zac). that displayed an enlarged heart, caused by rupture of the myocardiac wall, and progressive skeletal muscle degeneration in late embryonic stages. We identified zac to be a homozygous nonsense mutation in the filamin C (flu) gene. The medaka filamin C protein was found to be localized at myotendinous junctions, sarcolemma, and Z-disks in skeletal muscle, and at intercalated disks in the heart. zac embryos showed prominent myofibrillar degeneration at myotendinous junctions, detachment of myofibrils from sarcolemma and intercalated disks, and focal Z-disk destruction. Importantly, the expression of gamma-actin, which we observed to have a strong subcellular localization at myotendinous junctions, was specifically reduced in zac mutant myotomes. Inhibition of muscle contraction by anesthesia alleviated muscle degeneration in the zac mutant. These results suggest that filamin C plays an indispensable role in the maintenance of the structural integrity of cardiac and skeletal muscles for support against mechanical stress. (C) 2011 Elsevier Inc. All rights reserved.

Web of Science ® 被引用回数 : 61

リンク情報
DOI
https://doi.org/10.1016/j.ydbio.2011.10.008
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000297898700007&DestApp=WOS_CPL

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