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Volumn 56, Issue 11, 2008, Pages 1003-1011

The heterozygous disproportionate micromelia (Dmm) mouse: Morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype

Author keywords

C propeptide; Chondrodysplasia; Col2a1; Disproportionate micromelia; Extracellular matrix

Indexed keywords

AGGRECAN; MESSENGER RNA; PEPTIDE DERIVATIVE; PROCOLLAGEN;

EID: 54349105636     PISSN: 00221554     EISSN: None     Source Type: Journal    
DOI: 10.1369/jhc.2008.951673     Document Type: Article
Times cited : (9)

References (31)
  • 1
    • 0028863623 scopus 로고
    • Stickler Syndrome. A mutation in the nonhelical 3′ end of type II procollagen gene
    • Ahmad NN, Dimascio J, Knowlton RG, Tasman WS (1995) Stickler Syndrome. A mutation in the nonhelical 3′ end of type II procollagen gene. Arch Ophthalmol 113:1454-1457
    • (1995) Arch Ophthalmol , vol.113 , pp. 1454-1457
    • Ahmad, N.N.1    Dimascio, J.2    Knowlton, R.G.3    Tasman, W.S.4
  • 3
    • 0346022969 scopus 로고    scopus 로고
    • Structure formation in the c terminus of type iii collagen guides disulfide cross-linking
    • Boudko SP, Engel J (2004) Structure formation in the c terminus of type iii collagen guides disulfide cross-linking. J Mol Biol 335:1289-1297
    • (2004) J Mol Biol , vol.335 , pp. 1289-1297
    • Boudko, S.P.1    Engel, J.2
  • 4
    • 0019391029 scopus 로고
    • Disproportionate micromelia (dmm): An incomplete dominant mouse dwarfism with abnormal cartilage matrix
    • Brown KS, Cranley RE, Greene R, Kleinman HK, Pennypacker JP (1981) Disproportionate micromelia (dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix. J Embryol Exp Morphol 62:165-182
    • (1981) J Embryol Exp Morphol , vol.62 , pp. 165-182
    • Brown, K.S.1    Cranley, R.E.2    Greene, R.3    Kleinman, H.K.4    Pennypacker, J.P.5
  • 5
    • 0242438182 scopus 로고    scopus 로고
    • Protein consequences of the col2a1 c-propeptide mutation in the chondrodysplastic dmm mouse
    • Fernandes RJ, Seegmiller RE, Nelson WR, Eyre DR (2003) Protein consequences of the col2a1 c-propeptide mutation in the chondrodysplastic dmm mouse. Matrix Biol 22:449-453
    • (2003) Matrix Biol , vol.22 , pp. 449-453
    • Fernandes, R.J.1    Seegmiller, R.E.2    Nelson, W.R.3    Eyre, D.R.4
  • 6
    • 0028205071 scopus 로고
    • Pulmonary hypoplasia associated with reduced thoracic space in mice with disproportionate miromelia (dmm)
    • Foster MJ, Caldwell AP, Staheli J, Smith DH, Gardner JS, Seegmiller RE (1994) Pulmonary hypoplasia associated with reduced thoracic space in mice with disproportionate miromelia (dmm). Anat Rec 238:454-462
    • (1994) Anat Rec , vol.238 , pp. 454-462
    • Foster, M.J.1    Caldwell, A.P.2    Staheli, J.3    Smith, D.H.4    Gardner, J.S.5    Seegmiller, R.E.6
  • 8
    • 0036447070 scopus 로고    scopus 로고
    • Building collagen molecules, fibrils, and supra-fibrillar structures
    • Hulmes DJ (2002) Building collagen molecules, fibrils, and supra-fibrillar structures. J Struct Biol 137:2-10
    • (2002) J Struct Biol , vol.137 , pp. 2-10
    • Hulmes, D.J.1
  • 9
    • 0020441791 scopus 로고
    • Improved cartilage fixation by ruthenium hexamine trichloride (RHT). A prerequisite for morphometry in growth cartilage
    • Hunziker EB, Herrmann W, Schenk RK (1982) Improved cartilage fixation by ruthenium hexamine trichloride (RHT). A prerequisite for morphometry in growth cartilage. J Ultrastruct Res 81:1-12
    • (1982) J Ultrastruct Res , vol.81 , pp. 1-12
    • Hunziker, E.B.1    Herrmann, W.2    Schenk, R.K.3
  • 10
    • 0035094682 scopus 로고    scopus 로고
    • Inactivation of one allele of the type ii collagen gene alters the collagen network in murine articular cartilage and makes cartilage softer
    • Hyttinen MM, Toyras J, Lapvetelainen T, Lindblom J, Prockop DJ, Li SW, Arita M, et al. (2001) Inactivation of one allele of the type ii collagen gene alters the collagen network in murine articular cartilage and makes cartilage softer. Ann Rheum Dis 60:262-268
    • (2001) Ann Rheum Dis , vol.60 , pp. 262-268
    • Hyttinen, M.M.1    Toyras, J.2    Lapvetelainen, T.3    Lindblom, J.4    Prockop, D.J.5    Li, S.W.6    Arita, M.7
  • 11
    • 0038687536 scopus 로고    scopus 로고
    • Developmental regulation of the growth plate
    • Kronenberg HM (2003) Developmental regulation of the growth plate. Nature 423:332-336
    • (2003) Nature , vol.423 , pp. 332-336
    • Kronenberg, H.M.1
  • 12
    • 0032724903 scopus 로고    scopus 로고
    • Completion of the mouse aggrecan gene structure and identification of the defect in the cmd-bc mouse as a near complete deletion of the murine aggrecan gene
    • Krueger RC Jr, Kurima K, Schwartz NB (1999) Completion of the mouse aggrecan gene structure and identification of the defect in the cmd-bc mouse as a near complete deletion of the murine aggrecan gene. Mamm Genome 10:1119-1125
    • (1999) Mamm Genome , vol.10 , pp. 1119-1125
    • Krueger Jr, R.C.1    Kurima, K.2    Schwartz, N.B.3
  • 13
    • 0030955414 scopus 로고    scopus 로고
    • Kuivaniemi H, Tromp G, Prockop DJ (1997) Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 9:300-315
    • Kuivaniemi H, Tromp G, Prockop DJ (1997) Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 9:300-315
  • 14
    • 0033208952 scopus 로고    scopus 로고
    • Procollagen folding and assembly: The role of endoplasmic reticulum enzymes and molecular chaperones
    • Lamande SR, Bateman JF (1999) Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones. Semin Cell Dev Biol 10:455-464
    • (1999) Semin Cell Dev Biol , vol.10 , pp. 455-464
    • Lamande, S.R.1    Bateman, J.F.2
  • 15
    • 0024341253 scopus 로고
    • Identification of the molecular defect in a family with spondyloepiphyseal dysplasia
    • Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D (1989) Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science 244:978-980
    • (1989) Science , vol.244 , pp. 978-980
    • Lee, B.1    Vissing, H.2    Ramirez, F.3    Rogers, D.4    Rimoin, D.5
  • 16
    • 0028856176 scopus 로고
    • Transgenic mice with targeted inactivation of the col2 alpha 1 gene for collagen ii develop a skeleton with membranous and periosteal bone but no endochondral bone
    • Li SW, Prockop DJ, Helminen H, Fassler R, Lapvetelainen T, Kiraly K, Peltarri A, et al. (1995) Transgenic mice with targeted inactivation of the col2 alpha 1 gene for collagen ii develop a skeleton with membranous and periosteal bone but no endochondral bone. Genes Dev 9:2821-2830
    • (1995) Genes Dev , vol.9 , pp. 2821-2830
    • Li, S.W.1    Prockop, D.J.2    Helminen, H.3    Fassler, R.4    Lapvetelainen, T.5    Kiraly, K.6    Peltarri, A.7
  • 17
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25:402-408
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 18
    • 0034108294 scopus 로고    scopus 로고
    • Report of five novel and one recurrent col2a1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type ii collagen disorder
    • Mortier GR, Weis M, Nuytmck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, et al. (2000) Report of five novel and one recurrent col2a1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type ii collagen disorder. J Med Genet 37:263-271
    • (2000) J Med Genet , vol.37 , pp. 263-271
    • Mortier, G.R.1    Weis, M.2    Nuytmck, L.3    King, L.M.4    Wilkin, D.J.5    De Paepe, A.6    Lachman, R.S.7
  • 19
    • 0034937681 scopus 로고    scopus 로고
    • Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(i) chain of type i procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta
    • Pace JM, Kuslich CD, Willing MC, Byers PH (2001) Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(i) chain of type i procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta. J Med Genet 38:443-449
    • (2001) J Med Genet , vol.38 , pp. 443-449
    • Pace, J.M.1    Kuslich, C.D.2    Willing, M.C.3    Byers, P.H.4
  • 20
    • 0031034806 scopus 로고    scopus 로고
    • Disproportionate micromelia (dmm) in mice caused by a mutation in the c-propeptide coding region of col2a1
    • Pace JM, Li Y, Seegmiller RE, Teuscher C, Taylor BA, Olsen BR (1997) Disproportionate micromelia (dmm) in mice caused by a mutation in the c-propeptide coding region of col2a1. Dev Dyn 208:25-33
    • (1997) Dev Dyn , vol.208 , pp. 25-33
    • Pace, J.M.1    Li, Y.2    Seegmiller, R.E.3    Teuscher, C.4    Taylor, B.A.5    Olsen, B.R.6
  • 21
    • 0002129975 scopus 로고    scopus 로고
    • Quantification on the LightCycler instrument
    • Meuer S, Wittwer C, Nakagawara K, eds, Heidelberg, Springer
    • Rasmussen R (2001) Quantification on the LightCycler instrument. In Meuer S, Wittwer C, Nakagawara K, eds. Rapid Cycle Real-time PCR: Methods and Applications. Heidelberg, Springer, 21-34
    • (2001) Rapid Cycle Real-time PCR: Methods and Applications , pp. 21-34
    • Rasmussen, R.1
  • 22
    • 18544362958 scopus 로고    scopus 로고
    • Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type ii collagenopathy resulting from a novel mutation in the c-propeptide region of the molecule
    • Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, et al. (2002) Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type ii collagenopathy resulting from a novel mutation in the c-propeptide region of the molecule. J Med Genet 39:661-665
    • (2002) J Med Genet , vol.39 , pp. 661-665
    • Richards, A.J.1    Morgan, J.2    Bearcroft, P.W.3    Pickering, E.4    Owen, M.J.5    Holmans, P.6    Williams, N.7
  • 23
    • 0036183541 scopus 로고    scopus 로고
    • Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate miromelia: An oral clefting model supporting the pierre-robin sequence
    • Ricks JE, Ryder VM, Bridgewater LC, Schaalje B, Seegmiller RE (2002) Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate miromelia: an oral clefting model supporting the pierre-robin sequence. Teratology 65:116-120
    • (2002) Teratology , vol.65 , pp. 116-120
    • Ricks, J.E.1    Ryder, V.M.2    Bridgewater, L.C.3    Schaalje, B.4    Seegmiller, R.E.5
  • 24
    • 0024235472 scopus 로고
    • Histochemical, immunoflourescence, and ultrastructural differences in fetal cartilage among three genetically distinct chondrodystrophic mice
    • Seegmiller RE, Brown KS, Chandrasekhar S (1988) Histochemical, immunoflourescence, and ultrastructural differences in fetal cartilage among three genetically distinct chondrodystrophic mice. Teratology 38:579-592
    • (1988) Teratology , vol.38 , pp. 579-592
    • Seegmiller, R.E.1    Brown, K.S.2    Chandrasekhar, S.3
  • 25
    • 0015020488 scopus 로고
    • A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis
    • Seegmiller RE, Fraser FC, Sheldon H (1971) A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis. J Cell Biol 48:580-593
    • (1971) J Cell Biol , vol.48 , pp. 580-593
    • Seegmiller, R.E.1    Fraser, F.C.2    Sheldon, H.3
  • 27
    • 0034657132 scopus 로고    scopus 로고
    • Hsp47: A molecular chaperone that interacts with and stabilizes correctly-folded procollagen
    • Tasab M, Batten MR, Bulleid NJ (2000) Hsp47: a molecular chaperone that interacts with and stabilizes correctly-folded procollagen. EMBO J 19:2204-2211
    • (2000) EMBO J , vol.19 , pp. 2204-2211
    • Tasab, M.1    Batten, M.R.2    Bulleid, N.J.3
  • 28
    • 0035935618 scopus 로고    scopus 로고
    • Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita
    • Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH (2001) Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Am J Med Genet 104:140-146
    • (2001) Am J Med Genet , vol.104 , pp. 140-146
    • Unger, S.1    Korkko, J.2    Krakow, D.3    Lachman, R.S.4    Rimoin, D.L.5    Cohn, D.H.6
  • 29
  • 30
    • 0030483252 scopus 로고    scopus 로고
    • Differential growth by growth plates as a function of multiple parameters of chondrocytic kinetics
    • Wilsman NJ, Farnum CE, Leiferman EM, Fry M, Barreto C (1996) Differential growth by growth plates as a function of multiple parameters of chondrocytic kinetics. J Orthop Res 14:927-936
    • (1996) J Orthop Res , vol.14 , pp. 927-936
    • Wilsman, N.J.1    Farnum, C.E.2    Leiferman, E.M.3    Fry, M.4    Barreto, C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.