Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia

Journal of Bone and Mineral Research

Volumn 17, Issue 1, 2002, Pages 39-47

  Gaiser, Kelly G ^a,b   Maddox, B Kerry ^a,b   Bann, James G ^a,b   Boswell, Bruce A ^a   Keene, Douglas R ^a,b   Garofalo, Silvio ^a,b,c   Horton, William A ^a,b  

^a SHRINERS HOSPITAL FOR CHILDREN   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c CENTRO DI BIOTECNOLOGIE AVANZATE   (Italy)

Author keywords

Cartilage; Chondrodysplasia; Spondyloepiphyseal dysplasia; Transgenic mice; Type II collagen

Indexed keywords

COLLAGEN TYPE 2;

ANIMAL MODEL; ARTICLE; BONE DEVELOPMENT; CLEFT PALATE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GROWTH PLATE; MALE; MOLECULAR MODEL; MOUSE; NONHUMAN; PROMOTER REGION; PROTEIN ASSEMBLY; SPONDYLOEPIPHYSEAL DYSPLASIA; TRANSGENIC MOUSE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; BONE DEVELOPMENT; CARTILAGE; COLLAGEN TYPE II; DISEASE MODELS, ANIMAL; EXOSTOSES, MULTIPLE HEREDITARY; GROWTH PLATE; HUMANS; MICE; MICE, TRANSGENIC; MODELS, MOLECULAR; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POINT MUTATION; PROTEIN CONFORMATION; RNA, MESSENGER;

EID: 0036133536     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2002.17.1.39     Document Type: Article

References (24)

1. Collagens: Molecular biology, diseases, and potentials for therapy
2. Osteogenesis imperfecta: Translation of mutation to phenotype
3. The chondrodysplasias
4. Glycine to serine substitution in the triple helical domain of pro-alpha1(II) collagen results in a lethal perinatal form of short-limbed dwarfism
5. 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
6. Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis
7. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia
8. 75 to cys mutation in the procollagen type II gene (COL2A1)
9. Characterization of an arginine 789 to cysteine substitution in α1(II) collagen chains of a patient with spondyloepiphyseal dysplasia
10. Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita
11. Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia
12. Collagen II containing a Cys substitution for arg-alpha 1-519 Homotrimeric monomers containing the mutation do not assemble into fibrils but alter the self-assembly of the normal protein
13. Collagen II containing a Cys substitution for Argalphal-519. Analysis by atomic force microscopy demonstrates that mutated monomers alter the topography of the surface of collagen II fibrils
14. 1-chain gene
15. Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of proα1(II) collagen chain
16. Assembly of cartilage collagen fibrils is disrupted by overexpression of normal type II collagen in transgenic mice
17. Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen
18. Differential staining of cartilage and bone in whole mouse fetuses by Alcian blue and Alizarin Red S
19. Ultrastructural localization of collagen types II, IX, and XI in the growth plate of human rib and fetal bovine epiphyseal cartilage: Type XI collagen is restricted to thin fibrils
20. High-efficiency transformation of mammalian cells by plasmid DNA
21. Energy parameters in polypeptides, 10. Improved geometrical parameters and nonbonded interactions for use in the ECEPP/3 algorithm, with application to proline-containing peptides
22. Stabilization of the triple-helical structure of natural collagen by side-chain interactions
23. 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
24. Copolymerization of normal type I collagen with three mutated type I collagens containing substitutions of cysteine at different glycine positions in the alpha 1 (I) chain