메뉴 건너뛰기




Volumn 288, Issue 20, 2013, Pages 14320-14331

COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

C-TERMINAL DOMAINS; CLEAVAGE PRODUCTS; COLLAGEN FIBRILS; CONNECTIVE TISSUES; CONTRACTILE FORCE; MUSCULAR DYSTROPHY; TISSUE SPECIFICS; TUMOR ANGIOGENESIS;

EID: 84877900408     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M112.433078     Document Type: Article
Times cited : (51)

References (48)
  • 2
    • 0024449634 scopus 로고
    • Sequence analysis of α1(VI) and α2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two α2(VI) chain variants that differ in the carboxy terminus
    • Chu, M. L., Pan, T. C., Conway, D., Kuo, H. J., Glanville, R. W., Timpl, R., Mann, K., and Deutzmann, R. (1989) Sequence analysis of α1(VI) and α2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two α2(VI) chain variants that differ in the carboxy terminus. EMBO J. 8, 1939-1946 (Pubitemid 19273518)
    • (1989) EMBO Journal , vol.8 , Issue.7 , pp. 1939-1946
    • Chu, M.-L.1    Pan, T.2    Conway, D.3    Kuo, H.-J.4    Glanville, R.W.5    Timpl, R.6    Mann, K.7    Deutzmann, R.8
  • 3
    • 0025055088 scopus 로고
    • Mosaic structure of globular domains in the human type VI collagen α3 chain: similarity to von Willebrand Factor, fibronetin, actin, salivary proteins and aprotinin type protease inhibitors
    • Chu, M. L., Zhang, R. Z., Pan, T. C., Stokes, D., Conway, D., Kuo, H. J., Glanville, R., Mayer, U., Mann, K., and Deutzmann, R. (1990) Mosaic structure of globular domains in the human type VI collagen α3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors. EMBO J. 9, 385-393 (Pubitemid 20044757)
    • (1990) EMBO Journal , vol.9 , Issue.2 , pp. 385-393
    • Chu, M.-L.1    Zhang, R.-Z.2    Pan, T.3    Stokes, D.4    Conway, D.5    Kuo, H.-J.6    Glanville, R.7    Mayer, U.8    Mann, K.9    Deutzmann, R.10    Timpl, R.11
  • 4
    • 0027097843 scopus 로고
    • The human type VI collagen gene. mRNA and protein variants of the α3 chain generated by alternative splicing of an additional 5-end exon
    • Zanussi, S., Doliana, R., Segat, D., Bonaldo, P., and Colombatti, A. (1992) The human type VI collagen gene. mRNA and protein variants of the α3 chain generated by alternative splicing of an additional 5-end exon. J. Biol. Chem. 267, 24082-24089 (Pubitemid 23088229)
    • (1992) Journal of Biological Chemistry , vol.267 , Issue.33 , pp. 24082-24089
    • Zanussi, S.1    Doliana, R.2    Segat, D.3    Bonaldo, P.4    Colombatti, A.5
  • 5
    • 0020632037 scopus 로고
    • Electron-microscopical approach to a structural model of intima collagen
    • Furthmayr, H., Wiedemann, H., Timpl, R., Odermatt, E., and Engel, J. (1983) Electron-microscopical approach to a structural model of intima collagen. Biochem. J. 211, 303-311 (Pubitemid 13092520)
    • (1983) Biochemical Journal , vol.211 , Issue.2 , pp. 303-311
    • Furthmayr, H.1    Wiedemann, H.2    Timpl, R.3
  • 7
    • 33745225191 scopus 로고    scopus 로고
    • The C5 domain of the collagen VI α3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells
    • Lamandé, S. R., Mörgelin, M., Adams, N. E., Selan, C., and Allen, J. M. (2006) The C5 domain of the collagen VI α3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells. J. Biol. Chem. 281, 16607-16614
    • (2006) J. Biol. Chem. , vol.281 , pp. 16607-16614
    • Lamandé, S.R.1    Mörgelin, M.2    Adams, N.E.3    Selan, C.4    Allen, J.M.5
  • 8
    • 0028072632 scopus 로고
    • Recombinant expression and properties of the Kunitz-type protease-inhibitor module from human type VI collagen α3(VI) chain
    • DOI 10.1111/j.1432-1033.1994.00573.x
    • Mayer, U., Pöschl, E., Nischt, R., Specks, U., Pan, T. C., Chu, M. L., and Timpl, R. (1994) Recombinant expression and properties of the Kunitztype protease-inhibitor module from human type VI collagen α3(VI) chain. Eur. J. Biochem. 225, 573-580 (Pubitemid 24325574)
    • (1994) European Journal of Biochemistry , vol.225 , Issue.2 , pp. 573-580
    • Mayer, U.1    Poschl, E.2    Nischt, R.3    Specks, U.4    Pan, T.-C.5    Chu, M.-L.6    Timpl, R.7
  • 10
    • 84868611621 scopus 로고    scopus 로고
    • Adipocyte-derived endotrophin promotes malignant tumor progression
    • Park, J., and Scherer, P. E. (2012) Adipocyte-derived endotrophin promotes malignant tumor progression. J. Clin. Investig. 122, 4243-4256
    • (2012) J. Clin. Investig. , vol.122 , pp. 4243-4256
    • Park, J.1    Scherer, P.E.2
  • 11
    • 50649101286 scopus 로고    scopus 로고
    • Three novel collagen VI chains, α4(VI), α5(VI), and α6(VI)
    • Fitzgerald, J., Rich, C., Zhou, F. H., and Hansen, U. (2008) Three novel collagen VI chains, α4(VI), α5(VI), and α6(VI). J. Biol. Chem. 283, 20170-20180
    • (2008) J. Biol. Chem. , vol.283 , pp. 20170-20180
    • Fitzgerald, J.1    Rich, C.2    Zhou, F.H.3    Hansen, U.4
  • 15
    • 79960101359 scopus 로고    scopus 로고
    • The collagen VI-related myopathies: Muscle meets its matrix
    • Bönnemann, C. G. (2011) The collagen VI-related myopathies: muscle meets its matrix. Nat. Rev. Neurol. 7, 379-390
    • (2011) Nat. Rev. Neurol. , vol.7 , pp. 379-390
    • Bönnemann, C.G.1
  • 16
    • 0345196592 scopus 로고    scopus 로고
    • Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures
    • DOI 10.1093/brain/122.4.649
    • Jöbsis, G. J., Boers, J. M., Barth, P. G., and de Visser, M. (1999) Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 122, 649-655 (Pubitemid 29158773)
    • (1999) Brain , vol.122 , Issue.4 , pp. 649-655
    • Jobsis, G.J.1    Boers, J.M.2    Barth, P.G.3    De Visser, M.4
  • 17
    • 0027159388 scopus 로고
    • Cloning and sequence analysis of cDNAs encoding the α1, α2 and α3 chains of mouse collagen VI
    • Zhang, R. Z., Pan, T. C., Timpl, R., and Chu, M. L. (1993) Cloning and sequence analysis of cDNAs encoding the α1, α2 and α3 chains of mouse collagen VI. Biochem. J. 291, 787-792 (Pubitemid 23148453)
    • (1993) Biochemical Journal , vol.291 , Issue.3 , pp. 787-792
    • Zhang, R.-Z.1    Pan, T.-C.2    Timpl, R.3    Chu, M.-L.4
  • 18
    • 0347722754 scopus 로고    scopus 로고
    • Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy
    • DOI 10.1074/jbc.M207696200
    • Zhang, R. Z., Sabatelli, P., Pan, T. C., Squarzoni, S., Mattioli, E., Bertini, E., Pepe, G., and Chu, M. L. (2002) Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. J. Biol. Chem. 277, 43557-43564 (Pubitemid 36157768)
    • (2002) Journal of Biological Chemistry , vol.277 , Issue.46 , pp. 43557-43564
    • Zhang, R.-Z.1    Sabatelli, P.2    Pan, T.-C.3    Squarzoni, S.4    Mattioli, E.5    Bertini, E.6    Pepe, G.7    Chu, M.-L.8
  • 19
    • 0026484847 scopus 로고
    • Structure of recombinant N-terminal globule of type VI collagen α3 chain and its binding to heparin and hyaluronan
    • Specks, U., Mayer, U., Nischt, R., Spissinger, T., Mann, K., Timpl, R., Engel, J., and Chu, M. L. (1992) Structure of recombinant N-terminal globule of type VI collagen α3 chain and its binding to heparin and hyaluronan. EMBO J. 11, 4281-4290
    • (1992) EMBO J. , vol.11 , pp. 4281-4290
    • Specks, U.1    Mayer, U.2    Nischt, R.3    Spissinger, T.4    Mann, K.5    Timpl, R.6    Engel, J.7    Chu, M.L.8
  • 20
  • 22
    • 39749114099 scopus 로고    scopus 로고
    • Myostatin blockade improves function but not histopathology in a murine model of limb-girdle muscular dystrophy 2C
    • DOI 10.1002/mus.20920
    • Bogdanovich, S., McNally, E. M., and Khurana, T. S. (2008) Myostatin blockade improves function but not histopathology in a murine model of limb-girdle muscular dystrophy 2C. Muscle Nerve 37, 308-316 (Pubitemid 351304790)
    • (2008) Muscle and Nerve , vol.37 , Issue.3 , pp. 308-316
    • Bogdanovich, S.1    McNally, E.M.2    Khurana, T.S.3
  • 23
    • 0025265584 scopus 로고
    • Contraction-induced injury: Recovery of skeletal muscles in young and old mice
    • Brooks, S. V., and Faulkner, J. A. (1990) Contraction-induced injury: recovery of skeletal muscles in young and old mice. Am. J. Physiol. Cell Physiol. 258, C436-C442 (Pubitemid 20118938)
    • (1990) American Journal of Physiology - Cell Physiology , vol.258 , Issue.3
    • Brooks, S.V.1    Faulkner, J.A.2
  • 24
    • 77149168134 scopus 로고    scopus 로고
    • Fibromodulin regulates collagen fibrillogenesis during peripheral corneal development
    • Chen, S., Oldberg, A., Chakravarti, S., and Birk, D. E. (2010) Fibromodulin regulates collagen fibrillogenesis during peripheral corneal development. Dev. Dyn. 239, 844-854
    • (2010) Dev. Dyn. , vol.239 , pp. 844-854
    • Chen, S.1    Oldberg, A.2    Chakravarti, S.3    Birk, D.E.4
  • 26
    • 84855217862 scopus 로고    scopus 로고
    • Endoplasmic reticulum stress in skeletal muscle: Origin and metabolic consequences
    • Deldicque, L., Hespel, P., and Francaux, M. (2012) Endoplasmic reticulum stress in skeletal muscle: origin and metabolic consequences. Exerc. Sport Sci. Rev. 40, 43-49
    • (2012) Exerc. Sport Sci. Rev. , vol.40 , pp. 43-49
    • Deldicque, L.1    Hespel, P.2    Francaux, M.3
  • 27
    • 0031916557 scopus 로고    scopus 로고
    • An Fgf8 mutant allelic series generated by Cre-and Flp-mediated recombination
    • DOI 10.1038/ng0298-136
    • Meyers, E. N., Lewandoski, M., and Martin, G. R. (1998) An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination. Nat. Genet. 18, 136-141 (Pubitemid 28082459)
    • (1998) Nature Genetics , vol.18 , Issue.2 , pp. 136-141
    • Meyers, E.N.1    Lewandoski, M.2    Martin, G.R.3
  • 28
    • 0032554783 scopus 로고    scopus 로고
    • Dissecting the role of N-myc in development using a single targeting vector to generate a series of alleles
    • Nagy, A., Moens, C., Ivanyi, E., Pawling, J., Gertsenstein, M., Hadjantonakis, A. K., Pirity, M., and Rossant, J. (1998) Dissecting the role of N-myc in development using a single targeting vector to generate a series of alleles. Curr. Biol. 8, 661-664 (Pubitemid 28257971)
    • (1998) Current Biology , vol.8 , Issue.11 , pp. 661-664
    • Nagy, A.1    Moens, C.2    Ivanyi, E.3    Pawling, J.4    Gertsenstein, M.5    Hadjantonakis, A.-K.6    Pirity, M.7    Rossant, J.8
  • 29
    • 0037127312 scopus 로고    scopus 로고
    • Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations
    • DOI 10.1074/jbc.M109932200
    • Lamandé, S. R., Mörgelin, M., Selan, C., Jöbsis, G. J., Baas, F., and Bateman, J. F. (2002) Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. J. Biol. Chem. 277, 1949-1956 (Pubitemid 34968773)
    • (2002) Journal of Biological Chemistry , vol.277 , Issue.3 , pp. 1949-1956
    • Lamande, S.R.1    Morgelin, M.2    Selan, C.3    Joost, J.G.4    Baas, F.5    Bateman, J.F.6
  • 30
    • 0041664084 scopus 로고    scopus 로고
    • New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
    • DOI 10.1086/377107
    • Pan, T. C., Zhang, R. Z., Sudano, D. G., Marie, S. K., Bönnemann, C. G., and Chu, M. L. (2003) New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am. J. Hum. Genet. 73, 355-369 (Pubitemid 36920997)
    • (2003) American Journal of Human Genetics , vol.73 , Issue.2 , pp. 355-369
    • Pan, T.-C.1    Zhang, R.-Z.2    Sudano, D.G.3    Marie, S.K.4    Bonnemann, C.G.5    Chu, M.-L.6
  • 31
    • 77952012386 scopus 로고    scopus 로고
    • 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands
    • Allamand, V., Merlini, L., and Bushby, K. (2010) 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromuscul. Disord. 20, 346-354
    • (2010) Neuromuscul. Disord. , vol.20 , pp. 346-354
    • Allamand, V.1    Merlini, L.2    Bushby, K.3
  • 32
    • 0031760509 scopus 로고    scopus 로고
    • Collagen VI deficiency induces early onset myopathy in the mouse: An animal model for Bethlem myopathy
    • Bonaldo, P., Braghetta, P., Zanetti, M., Piccolo, S., Volpin, D., and Bressan, G. M. (1998) Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. Hum. Mol. Genet. 7, 2135-2140 (Pubitemid 28546424)
    • (1998) Human Molecular Genetics , vol.7 , Issue.13 , pp. 2135-2140
    • Bonaldo, P.1    Braghetta, P.2    Zanetti, M.3    Piccolo, S.4    Volpin, D.5    Bressan, G.M.6
  • 35
    • 0027248618 scopus 로고
    • Increased susceptibility of EDL muscles from mdx mice to damage induced by contractions with stretch
    • Moens, P., Baatsen, P. H., and Maréchal, G. (1993) Increased susceptibility of EDL muscles from mdx mice to damage induced by contractions with stretch. J. Muscle Res. Cell Motil. 14, 446-451 (Pubitemid 23267492)
    • (1993) Journal of Muscle Research and Cell Motility , vol.14 , Issue.4 , pp. 446-451
    • Moens, P.1    Baatsen, P.H.W.W.2    Marechal, G.3
  • 38
    • 0033004886 scopus 로고    scopus 로고
    • Decreased expression of laminin β1 in chromosome 21-linked Bethlem myopathy
    • DOI 10.1016/S0960-8966(99)00022-X, PII S096089669900022X
    • Merlini, L., Villanova, M., Sabatelli, P., Malandrini, A., and Maraldi, N. M. (1999) Decreased expression of laminin β1 in chromosome 21-linked Bethlem myopathy. Neuromuscul. Disord. 9, 326-329 (Pubitemid 29301715)
    • (1999) Neuromuscular Disorders , vol.9 , Issue.5 , pp. 326-329
    • Merlini, L.1    Villanova, M.2    Sabatelli, P.3    Malandrini, A.4    Maraldi, N.M.5
  • 41
    • 38449112250 scopus 로고    scopus 로고
    • Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies
    • Voermans, N. C., Jenniskens, G. J., Hamel, B. C., Schalkwijk, J., Guicheney, P., and van Engelen, B. G. (2007) Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. Am. J. Med. Genet. A 143A, 2215-2219
    • (2007) Am. J. Med. Genet. A , vol.143 A , pp. 2215-2219
    • Voermans, N.C.1    Jenniskens, G.J.2    Hamel, B.C.3    Schalkwijk, J.4    Guicheney, P.5    Van Engelen, B.G.6
  • 43
    • 2942601785 scopus 로고    scopus 로고
    • Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen
    • DOI 10.1016/j.yexcr.2004.03.002, PII S0014482704001168
    • Minamitani, T., Ariga, H., and Matsumoto, K. (2004) Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen. Exp. Cell Res. 297, 49-60 (Pubitemid 38759561)
    • (2004) Experimental Cell Research , vol.297 , Issue.1 , pp. 49-60
    • Minamitani, T.1    Ariga, H.2    Matsumoto, K.-I.3
  • 45
    • 0041833720 scopus 로고    scopus 로고
    • Tendon cell array isolation reveals a previously unknown fibrillin-2-containing macromolecular assembly
    • DOI 10.1016/S0969-2126(03)00181-3
    • Ritty, T. M., Roth, R., and Heuser, J. E. (2003) Tendon cell array isolation reveals a previously unknown fibrillin-2-containing macromolecular assembly. Structure 11, 1179-1188 (Pubitemid 37103079)
    • (2003) Structure , vol.11 , Issue.9 , pp. 1179-1188
    • Ritty, T.M.1    Roth, R.2    Heuser, J.E.3
  • 47
    • 0022550390 scopus 로고
    • Type VI collagen is a major component of the human cornea
    • DOI 10.1016/0014-5793(86)80297-6
    • Zimmermann, D. R., Trüeb, B., Winterhalter, K. H., Witmer, R., and Fischer, R. W. (1986) Type VI collagen is a major component of the human cornea. FEBS Lett. 197, 55-58 (Pubitemid 16037894)
    • (1986) FEBS Letters , vol.197 , Issue.1-2 , pp. 55-58
    • Zimmermann, D.R.1    Trueb, B.2    Winterhalter, K.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.