Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (88)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Matsuda, C.
Right arrow Articles by Jr, R. H. B.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Matsuda, C.
Right arrow Articles by Jr, R. H. B.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2001, Vol. 10, No. 17 1761-1766
© 2001 Oxford University Press

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

Chie Matsuda1,2,5, Yukiko K. Hayashi2, Megumu Ogawa2, Masashi Aoki3, Kumiko Murayama4, Ichizo Nishino4, Ikuya Nonaka4, Kiichi Arahata{dagger},2 and Robert H. Brown Jr5,+

1Molecular Neurobiology Group, Neuroscience Research Institute, AIST, Central 6, Tsukuba 305-8566, Japan, 2Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan, 3Department of Neurology, Tohoku University School of Medicine, Sendai 980-8574, Japan, 4Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan and 5Day Neuromuscular Research Laboratory, Massachusetts General Hospital-East, Charlestown, MA 02129, USA

Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited, forms of muscular dystrophy designated Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B), respectively. The function of dysferlin is not defined. Caveolin-3 is another skeletal muscle membrane protein which is important in the formation of caveolae and whose mutations cause dominantly inherited limb girdle muscular dystrophy type 1C (LGMD1C). We report that dysferlin co-immunoprecipitates with caveolin-3 from biopsied normal human skeletal muscles. We also describe abnormal localization of dysferlin in muscles from patients with LGMD1C including novel missense mutation (T64P) in the human caveolin-3 gene (CAV3). The immunoprecipitation data are consistent with the parallel observation that dysferlin immunostaining is not normal in LGMD1C muscles. Amino acid sequence analysis of the dysferlin protein reveals seven sites that correspond to caveolin-3 scaffold-binding motifs, and one site that is a potential target to bind the WW domain of the caveolin-3 protein. This is the first description of a possible dysferlin interacting protein; it suggests the hypothesis that one function of dysferlin may be to interact with caveolin-3 to subserve signaling functions of caveolae.

+ To whom correspondence should be addressed. Tel: +1 617 726 5750; Fax: +1 617 726 8543; Email: brown@helix.mgh.harvard.edu Correspondence may also be addressed to C. Matsuda. Email: c-matsuda@aist.go.jp {dagger}Deceased.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Biol. Chem.Home page
D. J. Hernandez-Deviez, M. T. Howes, S. H. Laval, K. Bushby, J. F. Hancock, and R. G. Parton
Caveolin Regulates Endocytosis of the Muscle Repair Protein, Dysferlin
J. Biol. Chem., March 7, 2008; 283(10): 6476 - 6488.
[Abstract] [Full Text] [PDF]

Home page
 Biol. Reprod.Home page
D. D Vandre, W. E Ackerman IV, D. A Kniss, A. K Tewari, M. Mori, T. Takizawa, and J. M Robinson
Dysferlin Is Expressed in Human Placenta But Does Not Associate with Caveolin
Biol Reprod, September 1, 2007; 77(3): 533 - 542.
[Abstract] [Full Text] [PDF]

Home page
 FASEB J.Home page
L. Klinge, S. Laval, S. Keers, F. Haldane, V. Straub, R. Barresi, and K. Bushby
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis
FASEB J, June 1, 2007; 21(8): 1768 - 1776.
[Abstract] [Full Text] [PDF]

Home page
 J. Physiol.Home page
H. Couchoux, B. Allard, C. Legrand, V. Jacquemond, and C. Berthier
Loss of caveolin-3 induced by the dystrophy-associated P104L mutation impairs L-type calcium channel function in mouse skeletal muscle cells
J. Physiol., May 1, 2007; 580(3): 745 - 754.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
I. Illa, N. De Luna, R. Dominguez-Perles, R. Rojas-Garcia, C. Paradas, J. Palmer, C. Marquez, P. Gallano, and E. Gallardo
Symptomatic dysferlin gene mutation carriers: Characterization of two cases
Neurology, April 17, 2007; 68(16): 1284 - 1289.
[Abstract] [Full Text] [PDF]

Home page
 FASEB J.Home page
Y. Huang, S. H. Laval, A. van Remoortere, J. Baudier, C. Benaud, L. V. B. Anderson, V. Straub, A. Deelder, R. R. Frants, J. T. den Dunnen, et al.
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
FASEB J, March 1, 2007; 21(3): 732 - 742.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Pathol.Home page
C. A. Shaw, N. Larochelle, R. W.R. Dudley, H. Lochmuller, G. Danialou, B. J. Petrof, G. Karpati, P. C. Holland, and J. Nalbantoglu
Simultaneous Dystrophin and Dysferlin Deficiencies Associated with High-Level Expression of the Coxsackie and Adenovirus Receptor in Transgenic Mice
Am. J. Pathol., December 1, 2006; 169(6): 2148 - 2160.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
N. de Luna, E. Gallardo, M. Soriano, R. Dominguez-Perles, C. de la Torre, R. Rojas-Garcia, J. M. Garcia-Verdugo, and I. Illa
Absence of Dysferlin Alters Myogenin Expression and Delays Human Muscle Differentiation "in Vitro"
J. Biol. Chem., June 23, 2006; 281(25): 17092 - 17098.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
D. J. Hernandez-Deviez, S. Martin, S. H. Laval, H. P. Lo, S. T. Cooper, K. N. North, K. Bushby, and R. G. Parton
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3
Hum. Mol. Genet., January 1, 2006; 15(1): 129 - 142.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. J. Nixon, J. Wegner, C. Ferguson, P.-F. Mery, J. F. Hancock, P. D. Currie, B. Key, M. Westerfield, and R. G. Parton
Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning
Hum. Mol. Genet., July 1, 2005; 14(13): 1727 - 1743.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Pathol.Home page
G Cenacchi, M Fanin, L B De Giorgi, and C Angelini
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism
J. Clin. Pathol., February 1, 2005; 58(2): 190 - 195.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. Rev.Home page
A. W. Cohen, R. Hnasko, W. Schubert, and M. P. Lisanti
Role of Caveolae and Caveolins in Health and Disease
Physiol Rev, October 1, 2004; 84(4): 1341 - 1379.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
L.-S. Ro, G.-J. Lee-Chen, T.-C. Lin, Y.-R. Wu, C.-M. Chen, C.-Y. Lin, and S.-T. Chen
Phenotypic Features and Genetic Findings in 2 Chinese Families With Miyoshi Distal Myopathy
Arch Neurol, October 1, 2004; 61(10): 1594 - 1599.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Ho, C. M. Post, L. R. Donahue, H. G.W. Lidov, R. T. Bronson, H. Goolsby, S. C. Watkins, G. A. Cox, and R. H. Brown Jr
Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency
Hum. Mol. Genet., September 15, 2004; 13(18): 1999 - 2010.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
P Y K Van den Bergh, J M Gerard, J A Elosegi, M U Manto, C Kubisch, and B G H Schoser
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease
J. Neurol. Neurosurg. Psychiatry, September 1, 2004; 75(9): 1349 - 1351.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
S. E. Woodman, F. Sotgia, F. Galbiati, C. Minetti, and M. P. Lisanti
Caveolinopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases
Neurology, February 24, 2004; 62(4): 538 - 543.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
N. J. Lennon, A. Kho, B. J. Bacskai, S. L. Perlmutter, B. T. Hyman, and R. H. Brown Jr.
Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing
J. Biol. Chem., December 12, 2003; 278(50): 50466 - 50473.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
R. Cagliani, N. Bresolin, A. Prelle, A. Gallanti, F. Fortunato, M. Sironi, P. Ciscato, G. Fagiolari, S. Bonato, S. Galbiati, et al.
A CAV3 microdeletion differentially affects skeletal muscle and myocardium
Neurology, December 9, 2003; 61(11): 1513 - 1519.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Interv.Home page
R. Hnasko and M. P. Lisanti
The Biology of Caveolae: Lessons from Caveolin Knockout Mice and Implications for Human Disease
Mol. Interv., December 1, 2003; 3(8): 445 - 464.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Cell Physiol.Home page
F. Sotgia, S. E. Woodman, G. Bonuccelli, F. Capozza, C. Minetti, P. E. Scherer, and M. P. Lisanti
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease
Am J Physiol Cell Physiol, November 1, 2003; 285(5): C1150 - C1160.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
T. Takahashi, M. Aoki, M. Tateyama, E. Kondo, T. Mizuno, Y. Onodera, R. Takano, H. Kawai, K. Kamakura, H. Mochizuki, et al.
Dysferlin mutations in Japanese Miyoshi myopathy: Relationship to phenotype
Neurology, June 10, 2003; 60(11): 1799 - 1804.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Campanaro, C. Romualdi, M. Fanin, B. Celegato, B. Pacchioni, S. Trevisan, P. Laveder, C. De Pitta, E. Pegoraro, Y. K. Hayashi, et al.
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
Hum. Mol. Genet., December 15, 2002; 11(26): 3283 - 3298.
[Abstract] [Full Text] [PDF]

Home page
 Pharmacol. Rev.Home page
B. Razani, S. E. Woodman, and M. P. Lisanti
Caveolae: From Cell Biology to Animal Physiology
Pharmacol. Rev., September 1, 2002; 54(3): 431 - 467.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
D. B. Davis, K. R. Doherty, A. J. Delmonte, and E. M. McNally
Calcium-sensitive Phospholipid Binding Properties of Normal and Mutant Ferlin C2 Domains
J. Biol. Chem., June 14, 2002; 277(25): 22883 - 22888.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.