Human Molecular Genetics, Vol 7, 871-877, Copyright © 1998 by Oxford University Press
EM McNally, E de Sa Moreira, DJ Duggan, CG Bonnemann, MP Lisanti, HGW Lidov, M Vainzof, MR Passos-Bueno, EP Hoffman, M Zatz and LM Kunkel
The dystrophin-glycoprotein complex (DGC) serves as a link between
cytoplasmic actin, the membrane and the extracellular matrix of striated
muscle. Genetic defects in genes encoding a subset of DGC proteins result
in muscular dystrophy and a secondary decrease in other DGC proteins.
Caveolae are dynamic structures that have been implicated in a number of
functions including endocytosis, potocytosis and signal transduction.
Caveolin (VIP-21) is thought to play a structural role in the formation of
non-clathrin-coated vesicles in a number of different cell types.
Caveolin-3, or M-caveolin, was identified as a muscle- specific form of the
caveolin family. We show that caveolin-3 co- purifies with dystrophin, and
that a fraction of caveolin-3 is a dystrophin-associated protein. We
isolated the gene for human caveolin- 3 and mapped it to chromosome 3p25.
We determined the genomic organization of human caveolin-3 and devised a
screening strategy to look for mutations in caveolin-3 in patients with
muscular dystrophy. Of 82 patients screened, two nucleotide changes were
found that resulted in amino acid substitutions (G55S and C71W); these
changes were not seen in a control population. The amino acid changes map
to a functionally important domain in caveolin-3, suggesting that these are
not benign polymorphisms and instead are disease-causing mutations.
ARTICLES
Caveolin-3 in muscular dystrophy
Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA. emcnally@medicine.bsd.uchicago.edu
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  C. Cai, N. Weisleder, J.-K. Ko, S. Komazaki, Y. Sunada, M. Nishi, H. Takeshima, and J. Ma Membrane Repair Defects in Muscular Dystrophy Are Linked to Altered Interaction between MG53, Caveolin-3, and Dysferlin J. Biol. Chem., June 5, 2009; 284(23): 15894 - 15902. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Feron, L. Guevel, K. Rouger, L. Dubreil, M.-C. Arnaud, M. Ledevin, L. A. Megeney, Y. Cherel, and V. Sakanyan PTEN Contributes to Profound PI3K/Akt Signaling Pathway Deregulation in Dystrophin-Deficient Dog Muscle Am. J. Pathol., April 1, 2009; 174(4): 1459 - 1470. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. N. Bernatchez, A. Sharma, P. Kodaman, and W. C. Sessa Myoferlin is critical for endocytosis in endothelial cells Am J Physiol Cell Physiol, January 1, 2009; 297(3): C484 - C492. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Kirkham, S. J. Nixon, M. T. Howes, L. Abi-Rached, D. E. Wakeham, M. Hanzal-Bayer, C. Ferguson, M. M. Hill, M. Fernandez-Rojo, D. A. Brown, et al. Evolutionary analysis and molecular dissection of caveola biogenesis J. Cell Sci., June 15, 2008; 121(12): 2075 - 2086. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 D. P. McEwen, Q. Li, S. Jackson, P. M. Jenkins, and J. R. Martens Caveolin Regulates Kv1.5 Trafficking to Cholesterol-Rich Membrane Microdomains Mol. Pharmacol., March 1, 2008; 73(3): 678 - 685. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. H. Patel, S. Zhang, F. Murray, R. Y. S. Suda, B. P. Head, U. Yokoyama, J. S. Swaney, I. R. Niesman, R. T. Schermuly, S. S. Pullamsetti, et al. Increased smooth muscle cell expression of caveolin-1 and caveolae contribute to the pathophysiology of idiopathic pulmonary arterial hypertension FASEB J, September 1, 2007; 21(11): 2970 - 2979. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 M. Vatta, M. J. Ackerman, B. Ye, J. C. Makielski, E. E. Ughanze, E. W. Taylor, D. J. Tester, R. C. Balijepalli, J. D. Foell, Z. Li, et al. Mutant Caveolin-3 Induces Persistent Late Sodium Current and Is Associated With Long-QT Syndrome Circulation, November 14, 2006; 114(20): 2104 - 2112. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. G. Parton, M. Hanzal-Bayer, and J. F. Hancock Biogenesis of caveolae: a structural model for caveolin-induced domain formation. J. Cell Sci., March 1, 2006; 119(Pt 5): 787 - 796. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
 |
|
 C. E Woods, D. Novo, M. DiFranco, J. Capote, and J. L Vergara Propagation in the transverse tubular system and voltage dependence of calcium release in normal and mdx mouse muscle fibres J. Physiol., November 1, 2005; 568(3): 867 - 880. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 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]
|
|
|
|
 |
|
 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]
|
|
|
|
 |
|
 E. J. Folco, G.-X. Liu, and G. Koren Caveolin-3 and SAP97 form a scaffolding protein complex that regulates the voltage-gated potassium channel Kv1.5 Am J Physiol Heart Circ Physiol, August 1, 2004; 287(2): H681 - H690. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
 |
|
 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]
|
|
|
|
 |
|
 H. Thorn, K. G. Stenkula, M. Karlsson, U. Ortegren, F. H. Nystrom, J. Gustavsson, and P. Stralfors Cell Surface Orifices of Caveolae and Localization of Caveolin to the Necks of Caveolae in Adipocytes Mol. Biol. Cell, October 1, 2003; 14(10): 3967 - 3976. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. G. Ebert, M. Zelenka, I. Gath, U. Godtel-Armbrust, and U. Forstermann Colocalization but differential regulation of neuronal NO synthase and nicotinic acetylcholine receptor in C2C12 myotubes Am J Physiol Cell Physiol, April 1, 2003; 284(4): C1065 - C1072. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Lee, M. Marcucci, L. Daniell, M. Pypaert, O. A. Weisz, G.-C. Ochoa, K. Farsad, M. R. Wenk, and P. De Camilli Amphiphysin 2 (Bin1) and T-Tubule Biogenesis in Muscle Science, August 16, 2002; 297(5584): 1193 - 1196. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L Merlini, I Carbone, C Capanni, P Sabatelli, S Tortorelli, F Sotgia, M P Lisanti, C Bruno, and C Minetti Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene J. Neurol. Neurosurg. Psychiatry, July 1, 2002; 73(1): 65 - 67. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 U. Schara, M. Vorgerd, N. Popovic, B. G.H. Schoser, K. Ricker, and W. Mortier Rippling Muscle Disease in Childhood J Child Neurol, July 1, 2002; 17(7): 483 - 490. [Abstract] [PDF]
|
|
|
|
|
|
A. J. Carozzi, S. Roy, I. C. Morrow, A. Pol, B. Wyse, J. Clyde-Smith, I. A. Prior, S. J. Nixon, J. F. Hancock, and R. G. Parton Inhibition of Lipid Raft-dependent Signaling by a Dystrophy-associated Mutant of Caveolin-3 J. Biol. Chem., May 10, 2002; 277(20): 17944 - 17949. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. D. Cote, H. Moukhles, and S. Carbonetto Dystroglycan Is Not Required for Localization of Dystrophin, Syntrophin, and Neuronal Nitric-oxide Synthase at the Sarcolemma but Regulates Integrin alpha 7B Expression and Caveolin-3 Distribution J. Biol. Chem., February 8, 2002; 277(7): 4672 - 4679. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Vorgerd, K. Ricker, F. Ziemssen, W. Kress, H. H. Goebel, W. A. Nix, C. Kubisch, B. G.H. Schoser, and W. Mortier A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation Neurology, December 26, 2001; 57(12): 2273 - 2277. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. J. Macke, D. J. Ecker, R. R. Gutell, D. Gautheret, D. A. Case, and R. Sampath RNAMotif, an RNA secondary structure definition and search algorithm Nucleic Acids Res., November 15, 2001; 29(22): 4724 - 4735. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Hayashi, S. Matsuda, K. Machida, T. Yamamoto, Y. Fukuda, Y. Nimura, T. Hayakawa, and M. Hamaguchi Invasion Activating Caveolin-1 Mutation in Human Scirrhous Breast Cancers Cancer Res., March 1, 2001; 61(6): 2361 - 2364. [Abstract] [Full Text]
|
|
|
|
|
|
J. Gamez, C. Navarro, A.L. Andreu, J.M. Fernandez, L. Palenzuela, S. Tejeira, R. Fernandez-Hojas, S. Schwartz, C. Karadimas, S. DiMauro, et al. Autosomal dominant limb-girdle muscular dystrophy: A large kindred with evidence for anticipation Neurology, February 27, 2001; 56(4): 450 - 454. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Hagiwara, T. Sasaoka, K. Araishi, M. Imamura, H. Yorifuji, I. Nonaka, E. Ozawa, and T. Kikuchi Caveolin-3 deficiency causes muscle degeneration in mice Hum. Mol. Genet., December 1, 2000; 9(20): 3047 - 3054. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. D. Doyle, G. Goings, J. Upshaw-Earley, S. K. Ambler, A. Mondul, H. C. Palfrey, and E. Page Dystrophin Associates With Caveolae of Rat Cardiac Myocytes : Relationship to Dystroglycan Circ. Res., September 15, 2000; 87(6): 480 - 488. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. A. Hauser, S. K. Horrigan, P. Salmikangas, U. M. Torian, K. D. Viles, R. Dancel, R. W. Tim, A. Taivainen, L. Bartoloni, J. M. Gilchrist, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A Hum. Mol. Genet., September 1, 2000; 9(14): 2141 - 2147. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Herrmann, V. Straub, M. Blank, C. Kutzick, N. Franke, E. N. Jacob, H.-G. Lenard, S. Kroger, and T. Voit Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy Hum. Mol. Genet., September 1, 2000; 9(15): 2335 - 2340. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Galbiati, D. Volonté, J. B. Chu, M. Li, S. W. Fine, M. Fu, J. Bermudez, M. Pedemonte, K. M. Weidenheim, R. G. Pestell, et al. Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype PNAS, August 7, 2000; (2000) 160249097. [Abstract] [Full Text]
|
|
|
|
|
|
M. W. Berchtold, H. Brinkmeier, and M. Muntener Calcium Ion in Skeletal Muscle: Its Crucial Role for Muscle Function, Plasticity, and Disease Physiol Rev, July 1, 2000; 80(3): 1215 - 1265. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Hare, R. A. Lofthouse, G. J. Juang, L. Colman, K. M. Ricker, B. Kim, H. Senzaki, S. Cao, R. S. Tunin, and D. A. Kass Contribution of Caveolin Protein Abundance to Augmented Nitric Oxide Signaling in Conscious Dogs With Pacing-Induced Heart Failure Circ. Res., May 26, 2000; 86(10): 1085 - 1092. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Yoshida, H. Hama, M. Ishikawa-Sakurai, M. Imamura, Y. Mizuno, K. Araishi, E. Wakabayashi-Takai, S. Noguchi, T. Sasaoka, and E. Ozawa Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy Hum. Mol. Genet., April 12, 2000; 9(7): 1033 - 1040. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Carbone, C. Bruno, F. Sotgia, M. Bado, P. Broda, E. Masetti, A. Panella, F. Zara, F. D. Bricarelli, G. Cordone, et al. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase Neurology, March 28, 2000; 54(6): 1373 - 1376. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B Razani, A Schlegel, and M. Lisanti Caveolin proteins in signaling, oncogenic transformation and muscular dystrophy J. Cell Sci., January 6, 2000; 113(12): 2103 - 2109. [Abstract] [PDF]
|
|
|
|
 |
|
 E. J. Smart, G. A. Graf, M. A. McNiven, W. C. Sessa, J. A. Engelman, P. E. Scherer, T. Okamoto, and M. P. Lisanti Caveolins, Liquid-Ordered Domains, and Signal Transduction Mol. Cell. Biol., November 1, 1999; 19(11): 7289 - 7304. [Full Text] [PDF]
|
|
|
|
|
|
F. Galbiati, D. Volonte, C. Minetti, J. B. Chu, and M. P. Lisanti Phenotypic Behavior of Caveolin-3 Mutations That Cause Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD-1C). RETENTION OF LGMD-1C CAVEOLIN-3 MUTANTS WITHIN THE GOLGI COMPLEX J. Biol. Chem., September 3, 1999; 274(36): 25632 - 25641. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. M. D. Bushby The limb-girdle muscular dystrophies--multiple genes,multiple mechanisms Hum. Mol. Genet., September 1, 1999; 8(10): 1875 - 1882. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. M. D. Bushby Making sense of the limb-girdle muscular dystrophies Brain, August 1, 1999; 122(8): 1403 - 1420. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. S. Ostrom and P. A. Insel Caveolar Microdomains of the Sarcolemma : Compartmentation of Signaling Molecules Comes of Age Circ. Res., May 14, 1999; 84(9): 1110 - 1112. [Full Text] [PDF]
|
|
|
|
|
|
G. Piluso, M. Mirabella, E. Ricci, A. Belsito, C. Abbondanza, S. Servidei, A. A. Puca, P. Tonali, G. A. Puca, and V. Nigro gamma 1- and gamma 2-Syntrophins, Two Novel Dystrophin-binding Proteins Localized in Neuronal Cells J. Biol. Chem., May 19, 2000; 275(21): 15851 - 15860. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Galbiati, J. A. Engelman, D. Volonte, X. L. Zhang, C. Minetti, M. Li, H. Hou Jr., B. Kneitz, W. Edelmann, and M. P. Lisanti Caveolin-3 Null Mice Show a Loss of Caveolae, Changes in the Microdomain Distribution of the Dystrophin-Glycoprotein Complex, and T-tubule Abnormalities J. Biol. Chem., June 8, 2001; 276(24): 21425 - 21433. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Galbiati, D. Volonte, J. B. Chu, M. Li, S. W. Fine, M. Fu, J. Bermudez, M. Pedemonte, K. M. Weidenheim, R. G. Pestell, et al. Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype PNAS, August 15, 2000; 97(17): 9689 - 9694. [Abstract] [Full Text] [PDF]
|
|