Retarded skeletal development in transgenic mice with a type II collagen mutation

American Journal of Pathology

Volumn 149, Issue 6, 1996, Pages 2169-2182

  Savontaus, Mikko ^a   Metsäranta, Marjo ^a   Vuorio, Eero ^a  

^a UNIVERSITY OF TURKU   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2;

ANIMAL EXPERIMENT; ARTICLE; BONE DEVELOPMENT; CHONDROGENESIS; DELETION MUTANT; GROWTH RETARDATION; HETEROZYGOSITY; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; TRANSGENIC MOUSE;

ANIMALS; BONE AND BONES; BONE DEVELOPMENT; CARTILAGE, ARTICULAR; COLLAGEN; EMBRYONIC AND FETAL DEVELOPMENT; IN SITU HYBRIDIZATION; MICE; MICE, TRANSGENIC; MUTATION; OSTEOCHONDRODYSPLASIAS;

EID: 0029844436     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. Stockwell RA: Biology of Cartilage Cells. Cambridge, Cambridge University Press, 1979, 329 pp
2. Mendler M, Eich-Bender SG, Vaughan L, Winterhalter KH, Bruckner P: Cartilage contains mixed fibrils of collagen types II, IX, and XI. J Cell Biol 1989, 108: 191-197
3. Hardingham TE, Fosang AJ: Proteoglycans: many forms and many functions. FASEB J 1992, 6:861-870
4. Hedbom E, Heinegärd D: Binding of fibromodulin and decorin to separate sites on fibrillar collagens. J Biol Chem 1993, 268:27307-27312
5. Vikkula M, Metsäranta M, Ala-Kokko L: Type II collagen mutations in rare and common cartilage diseases. Ann Med 1994, 26:107-114
6. Spranger J, Winterpacht A, Zabel B: The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr 1994, 153:56-65
7. Prockop DJ, Kivirikko KI: Collagens: molecular biology, diseases, and potentials for therapy. Annu Rev Biochem 1995, 64:403-434
8. Li H, Schwartz NB, Vertel BM: cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia. J Biol Chem 1993, 268:23504-23511
9. Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA: A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nature Genet 1993, 5:79-82
10. Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SEC, de Waal Malefijt MC, van den Hoogen FHJ, Ropers H-H, Mayne R, Cheah KSE, Olsen BR, Warman ML, Brunner HG: Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995, 80:431-437
11. Briggs MD, Hoffmann SMG, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Games ES, Cekleniak JA, Knowlton RG, Cohn DH: Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nature Genet 1995, 10:330-336
12. Muragaki Y, Mariman ECM, van Beersum SEC, Perälä M, van Mourik JBA, Warman ML, Olsen BR, Hamel BCJ: A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nature Genet 1996, 12:103-105
13. Garofalo S, Vuorio E, Metsaranta M, Rosati R, Toman D, Vaughan J, Lozano G, Mayne R, Ellard J, Horton W, de Crombrugghe B: Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen α1-chain gene. Proc Natl Acad Sci USA 1991, 88:9648-9652
14. Metsäranta M, Garofalo S, Decker G, Rintala M, de Crombrugghe B, Vuorio E: Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of proα1(II) collagen chain. J Cell Biol 1992, 118:203-212
15. Vandenberg P, Khillan JS, Prockop DJ, Helminen H, Kontusaari S, Ala-Kokko L: Expresssion of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia. Proc Natl Acad Sci USA 1991, 88:7640-7644
16. Helminen HJ, Kiraly K, Peltarri A, Tammi MI, Vandenberg P, Pereira R, Dhulipala R, Khillan JS, Ata-Kokko L, Hume EL, Sokolov BP, Prockop DJ: An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (Col2a1). J Clin Invest 1993, 92:582-595
17. McLeod MJ: Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 1980, 22:299-301
18. Chirgwin JM, Przybyla AE, MacDonald RJ, Rutter WJ: Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 1979, 18:5294-5299
19. Metsäranta M, Toman D, de Crombrugghe B, Vuorio E: Specific hybridization probes for mouse type I, II, III, and IX collagen mRNAs. Biochim Biophys Acta 1991, 1089:241-243
20. Elima K, Metsäranta M, Kallio J, Perälä M, Eerola I, Garofalo S, de Crombrugghe B, Vuorio E: Specific hybridization probes for mouse α2(IX) and α1(X) collagen mRNAs. Biochim Biophys Acta 1992, 1130: 78-80
21. Glumoff V, Savontaus M, Vehanen J, Vuorio E: Analysis of aggrecan and tenascin gene expression in mouse skeletal tissues by Northern and in situ hybridization using species specific cDNA probes. Biochim Biophys Acta 1994, 1219:613-622
22. Metsäranta M, Toman D, de Crombrugghe B, Vuorio E: Mouse type II collagen gene. J Biol Chem 1991, 266: 16862-16869
23. Sandberg M, Vuorio E: Localization of types I, II, and III collagen mRNAs in developing human skeletal tissues by in situ hybridization. J Cell Biol 1987, 104:1077-1084
24. Ylä-Herttuala S, Rosenfeld ME, Parthasarathy S, Glass CK, Sigal E, Witztum JL, Steinberg D: Colocalization of 15-lipoxygenase mRNA and protein with epitopes of oxidized low density lipoprotein in macrophage-rich areas of atherosclerotic lesions. Proc Natl Acad Sci USA 1990, 87:6959-6963
25. Johnson DR: The Genetics of Skeleton: Animal Models for Skeletal Development. London, Oxford University Press, 1986, 407 pp
26. Tanner JM: Growth as a target-seeking function: catch-up and catch-down growth in man. Human Growth. Edited by F Falkner, JM Tanner. New York, Plenum Press, 1986, pp 167-179
27. Mundlos S: Expression patterns of matrix genes during human skeletal development. Prog Histochem Cytochem 1994, 28:1-47
28. Schmid TM, Linsenmayer TF: Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues. J Cell Biol 1985, 100:598-605
29. Elima K, Iirola E, Rosati R, Metsäranta M, Garofalo S, Perälä M, de Crombrugghe B, Vuorio E: The mouse collagen X gene: complete nucleotide sequence, exon structure, and expression pattern. Biochem J 1993, 289:247-253
30. Rimoin DL, Lachman RS: The chondrodysplasias. Principles and Practice of Medical Genetics. Edited by AEH Emery, DL Rimoin. Edinburgh, Churchill Livingstone, 1990, pp 703-735
31. Hiltunen A, Metsäranta M, Virolainen P, Arc HT, Vuorio E: Retarded chondrogenesis in transgenic mice with a type II collagen defect results in fracture healing abnormalities. Dev Dynam 1994, 200:340-349
32. Li S-W, Prockop DJ, Helminen H, Fässler R, Lapveteläinen T, Kiraly K, Peltarri A, Arokoski J, Lui H, Arita M, Khillan JS: Transgenic mice with targeted inactivation of the Col2a1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone. Genes Dev 1995, 9:2821-2830
33. Poole AR, Pidoux I: Immunoelectron microscopic studies of type X collagen in endochondral ossification. J Cell Biol 1989, 109:2547-2554
34. Cancedda R, Cancedda FP, Castagnola P: Chondrocyte differentiation. Int Rev Cytol 1995, 159:265-358
35. Roach HI, Erenpreisa J, Aigner T: Osteogenic differentiation of hypertrophic chondrocytes involves asymmetric cell divisions and apoptosis. J Cell Biol 1995, 131:483-494
36. Theiler K: The House Mouse: Atlas of Embryonic Development. New York, Springer Verlag, 1989, 178 pp
37. Nah HD, Upholt WB: Type II collagen mRNA containing an alternatively spliced exon predominates in the chick limb prior to chondrogenesis. J Biol Chem 1991, 266: 23446-23452
38. Swiderski RE, Solursh M: Differential co-expression of long and short form type IX collagen transcripts during avian limb chondrogenesis in ovo. Development 1992, 115:169-179
39. Sandell LJ, Nalin AM, Reife RA: Alternative splice form of type II procollagen mRNA is predominant in skeletal precursors and non-cartilaginous tissues during early mouse development. Dev Dynam 1994, 199:129-140
40. Lui VCH, Ng LJ, Nicholls J, Tam PPL, Cheah KSE: Tissue-specific and differential expression of alternatively spliced α1(II) collagen mRNAs in early human embryos. Dev Dynam 1995, 203:198-211
41. Sandell LJ, Morris N, Robbins JR, Goldring MB: Alternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development: differential expression of the amino-propeptide. J Cell Biol 1991, 114:1307-1319