Genetic Disorders of Collagen Metabolism

  • David W. Hollister
  • Peter H. Byers
  • Karen A. Holbrook


The first of the true genetic disorders of collagen metabolism, lysyl hydroxylase deficiency, was described in 1972 (Pinnell et al., 1972), and since that time there has been continued expansion of the biochemical understanding of inherited connective tissue disorders that involve collagen. In that period abnormalities in collagen structure, biosynthesis, post-translational modification, and degradation have been identified in the Ehlers-Danlos syndrome, the Marfan syndrome, osteogenesis imperfecta, cutis laxa, a small number of chondrodystrophies, and forms of epidermolysis bullosa.


Osteogenesis Imperfecta Marfan Syndrome Lysyl Oxidase Joint Hypermobility Collagen Metabolism 
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  1. Allam, S. S., and Heidemann, E., 1974, Isolation, characterization and comparative studies of the N-terminal peptides from soluble pig skin collagen, FEBS Lett. 39(2): 187–189.PubMedGoogle Scholar
  2. Appel, A., Horwitz, A. L., and Dorfman, A., 1979, Cell-free synthesis of hyaluronic acid in Marfan syndrome, J. Biol. Chem. 254: 12199–12203.PubMedGoogle Scholar
  3. Arneson, M. A., Hammerschmidt, D. E., Furcht, L. T., and King, R. A., 1980, A new form of Ehlers-Danlos syndrome: Fibronectin corrects defective platelet function, JAMA 244: 144–47.PubMedGoogle Scholar
  4. Avvedimento, V. E., Vogel, G., Yamada, Y., Maisel, J. V., Pastan, I., and deCrombrugghe, B., 1980, Correlation between splicing sites within an intron and their sequence complementarily with UI RNA, Cell 21: 689–696.PubMedGoogle Scholar
  5. Bailey, A. J., and Lapiere, C. M., 1973, Effect of an additional peptide extension of the N-terminus of collagen from dermatosparactic calves on the cross-linking of collagen fibers, Eur. J. Biochem. 34: 91–96.PubMedGoogle Scholar
  6. Bailey, A. J., and Robins, S. P., 1973, Development and maturation of the crosslinks in the collagen fibers of skin, Front. Matrix Biol. 1: 130–156.Google Scholar
  7. Bailey, A. J., Shellswell, G. B., and Duance, V. C., 1979, Identification and change of collagen types in differentiating myoblasts and developing chick muscle, Nature 278: 67–68.PubMedGoogle Scholar
  8. Barabas, A. P., 1967, Heterogeneity of the Ehlers-Danlos syndrome: Description of three clinical types and a hypothesis to explain the basic defect, Pont. Med. J. 2: 612–614.Google Scholar
  9. Barrow, M. V., Simpson, C. F., and Miller, E. J., 1974, Lathyrism: A review, Q. Rev. Biol. 49: 101–128.PubMedGoogle Scholar
  10. Barsh, G. S., and Byers, P. H., 1981, Abnormal secretion of type I procollagen in a variety of osteogenesis imperfecta, Proc. Natl. Acad. Sci. USA, in press.Google Scholar
  11. Bauer, E. A., 1981, Epidermolysis bullosa, in: Morphogenesis and Malformation of Skin (R. J. Blandau, ed.), Alan R. Liss, New York.Google Scholar
  12. Becker, U., Timpl, R., Helle, O., and Prockop, D. J., 1976, NH2-terminal extensions on skin collagen from sheep with a genetic defect in conversion of procollagen into collagen, Biochemistry 15: 2853–2862.PubMedGoogle Scholar
  13. Beighton, P., 1970, The Ehlers-Danlos Syndrome, William Heinemann Medical Books, London.Google Scholar
  14. Beighton, P. 1972, The dominant and recessive forms of cutis laxa, J. Med. Genet. 9: 216–221.PubMedGoogle Scholar
  15. Beighton, P., 1978, Inherited Disorders of the Skeleton, Churchill Livingstone, New York.Google Scholar
  16. Bellamy, G., and Bornstein, P., 1971, Evidence for procollagen, a biosynthetic precursor of collagen, Proc. Natl. Acad. Sci. USA 68: 1138–1142.PubMedGoogle Scholar
  17. Bentz, H., Bachinger, H. P., Glanville, R., and Kuhn, K., 1978, Physical evidence for the assembly of A and B chains of human placental collagen in a single triple helix, Eur. J. Biochem. 92: 563–567.PubMedGoogle Scholar
  18. Berg, R. A., and Prockop, D. J., 1973, The thermal transition of a nonhydroxylated form of collagen. Evidence for a role for hydroxyproline in stabilizing the triple-helix of collagen, Biochem. Biophys. Res. Commun. 52: 115–120.PubMedGoogle Scholar
  19. Biering, T., and Iverson, T., 1955, Osteogenesis imperfecta associated with Ehlers-Danlos syndrome, Acta Paediatr. 44: 279.PubMedGoogle Scholar
  20. Blobel, G., 1980, Intracellular protein topogenesis, Proc. Natl. Acad. Sci. USA 77: 1496–1500.PubMedGoogle Scholar
  21. Bolande, R. P., 1963, The nature of the connective tissue abiotrophy in the Marfan syndrome, Lab Invest. 12: 1087–1093.PubMedGoogle Scholar
  22. Bornstein, P., 1967, Comparative sequence studies of rat skin and tendon collagen. I. Evidence for incomplete hydroxylation of individual prolyl residues in the normal proteins, Biochemistry 6: 3082–3093.PubMedGoogle Scholar
  23. Bornstein, P., 1974, The biosynthesis of collagen, Annu. Rev. Biochem. 43: 576–603.Google Scholar
  24. Bornstein, P., and Byers, P. H., 1980, Disorders of collagen metabolism, in: Metabolic Control and Diseases, 8th ed. (P. K. Bondy and L. E. Rosenberg, eds.), W. B. Saunders, Philadelphia, Pennsylvania.Google Scholar
  25. Bornstein, P., and Sage, H., 1980. Structurally distinct collagen types, Annu. Rev. Biochem. 49: 957–1004.PubMedGoogle Scholar
  26. Bornstein, P., and Traub, W., 1979, in: The Proteins, 3rd ed. (G. Neurath and R. L. Hill, eds.), Vol. 4, pp. 411–632, Academic Press, New York.Google Scholar
  27. Bouvet, J. P., Maroteaux, P., and Feingold, J., 1974, Etude génétique du nanisme thanatophore, Ann. Genet. 17: 181–188.PubMedGoogle Scholar
  28. Boyd, C. D., Tolstoshev, P., Schafer, M. P., Trapnell, B. C., Coon, H. C., Kvetschmer, P. J., Nienhuis, A. W., and Crystal, R. G., 1980, Isolation and characterization of a 15-kilobase genomic sequence coding for part of the pro α2 chain of sheep type I collagen, J. Biol. Chem. 255: 3212–3220.PubMedGoogle Scholar
  29. Brown, R. A., and Weiss, J. B., 1979, Type V collagen: Possible shared identity of αA, αB and αC chains, FEBS Lett. 106: 71–75.PubMedGoogle Scholar
  30. Burgeson, R. E., and Hollister, D. W., 1979, Collagen heterogeneity in human cartilage: Identification of several new collagen chains, Biochem. Biophys. Res. Commun. 87(4): 1124–1131.PubMedGoogle Scholar
  31. Burgeson, R. E., and Hollister, D. W., 1981, in: Proceedings of the Workshop on Inherited Connective Tissue Disorders (W. A. Akeson, M. J. Glimcher, and P. Bornstein, eds.), Elsevier Press, New York.Google Scholar
  32. Burgeson, R. E., El Adli, F. A., Kaitila, I. I., and Hollister, D. W., 1976, Fetal membrane collagens: Identification of two new collagen alpha chains, Proc. Natl. Acad. Sci. USA 73: 2579–2583.PubMedGoogle Scholar
  33. Burgeson, R. E., Hollister, D. W., Lachman, R. S., and Rimoin, D. L., 1981, Camptomelic osteogenesis imperfecta: Hydroxylysine-deficient bone collagen, Manuscript in preparation.Google Scholar
  34. Butler, W. T. Finch, J. E., Jr., and Miller, E. J., 1977, The covalent structure of cartilage collagen. Evidence for sequence heterogeneity of bovine α1(II) chains, J. Biol. Chem. 252: 639–643.PubMedGoogle Scholar
  35. Buyse, M., and Bull, M., 1978, A syndrome of osteogenesis imperfecta and cataracts, Birth Defects 14(6B): 95.PubMedGoogle Scholar
  36. Byers, P. H., McKenney, K. H., Lichtenstein, J. R., and Martin, G. R., 1974, Preparation of Type III procollagen and collagen from rat skin, Biochem. 13: (25): 5243–5248.Google Scholar
  37. Byers, P. H., Click, E. M., Harper, E., and Bornstein, P., 1975, Interchain disulfide bonds in procollagen are located in a large COOH-terminal domain, Proc. Natl. Acad. Sci. USA 72: 3009–3013.PubMedGoogle Scholar
  38. Byers, P. H., Narayanan, A. S., Bornstein, P., and Hall, J. G., 1976, An X-linked form of cutis laxa due to deficiency of lysyl oxidase, Birth Defects: Original Article Series 12(5): 293–298.Google Scholar
  39. Byers, P. H., Holbrook, K. A., Hall, J. G., Bornstein, P., and Chandler, J. W., 1978, A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils, Hum. Genet. 40: 157–169.PubMedGoogle Scholar
  40. Byers, P. H., Holbrook, K. A., McGillivray, B., MacLeod, P. M., and Lowry, R. B., 1979, Clinical and ultrastructural heterogeneity of Type IV Ehlers-Danlos syndrome, Hum. Gen. 47: 141–150.Google Scholar
  41. Byers, P. H., Barsh, G. S., Rowe, D. W., Peterson, K. E., Holbrook, K. A., and Shapiro, J., 1980a, Biochemical heterogeneity in osteogenesis imperfecta, Am. J. Hum. Genet. 32: 37A.Google Scholar
  42. Byers, P. H., Siegel, R. C., Holbrook, K. A., Narayanan, A. S., Bornstein, P., and Hall, J. G., 1980b, X-linked cutis laxa: Defective collagen crosslink formation due to decreased lysyl oxidase activity, N.Engl. J. Med. 303: 61–65.PubMedGoogle Scholar
  43. Byers, P. H., Holbrook, K. A., and Barsh, G. S., 1981a, in: Proceedings of the Workshop on Inherited Connective Tissue Disorders (W. A. Akeson, M. J. Glimcher, and P. Bornstein, eds.), Elsevier Press, New York.Google Scholar
  44. Byers, P. H., Holbrook, K. A., Barsh, G. S., Smith, L. T., and Bornstein, P., 1981b, Altered secretion of Type III procollagen in a form of Type IV Ehlers-Danlos syndrome: Biochemical studies in cultured fibroblasts, Lab. Invest. 44: 336–341.PubMedGoogle Scholar
  45. Byers, P. H., Siegel, R. C., Peterson, K. E., Holbrook, K. A., Rowe, D. W., Smith, L. T., Chang, Y. H., and Fu, J. C. C., 1981c, Marfan syndrome: An abnormal α2 chain in Type I collagen, submitted for publication.Google Scholar
  46. Cardinale, G. J., and Udenfriend, S., 1974, Prolylhydroxylase, Adv. Enzymol. 41: 245–300.PubMedGoogle Scholar
  47. Cetta, G., Lenzi, L., Rizzotti, M., Ruggeri, A., Vall, M., and Boni, M., 1977, Osteogenesis imperfecta: Morphological, histochemical and biochemical aspects, Conn. Tiss. Res. 5: 51–58.Google Scholar
  48. Chung, E., and Miller, E. J., 1974, Collagen polymorphism: Characterization of molecules with the chain composition [α1(III)]3 in human tissues, Science 183: 1200–1201.PubMedGoogle Scholar
  49. Chung, E., Keele, E. M., and Miller, E. J., 1974, Isolation and characterization of the cyanogen bromide peptides from the α1(III) chain of human collagen, Biochemistry 13: 3459–3464.PubMedGoogle Scholar
  50. Chung, E., Rhodes, R. K., and Miller, E. J., 1976, Isolation of three collagenous components of probable basement membrane origin from several tissues, Biochem. Biophys. Res. Commun. 71: 1167–1174.PubMedGoogle Scholar
  51. Clark, C. C., and Kafalides, N. A., 1976, Carbohydrate moeities of procollagen—Incorporation of isotopically labeled mannose and glucosamine into propeptides of procollagen secreted by matrix-free chick embryo tendon cells, Proc. Natl. Acad. Sci. USA 73: 34–38.PubMedGoogle Scholar
  52. Clark, C. C., and Kefalides, N. A., 1978, Localization and partial composition of the oligosaccharide units on the propeptide extensions of Type I procollagen, J. Biol. Chem. 253: 47–51.PubMedGoogle Scholar
  53. Cocchi, U., 1964, Osteogenesis imperfecta, Humangenetik 2: 151–159.Google Scholar
  54. Columbre, A. J., 1964, Problems in corneal morphogenesis, Adv. Morphogen. 4: 81–109.Google Scholar
  55. Counts, D. F., Byers, P. H., Holbrook, K. A., and Hegreberg, G. A., 1980, Dermatosparaxis in a himalayan cat: I. Biochemical studies of dermal collagen. J. Invest. Dermatol. 74: 96–99.PubMedGoogle Scholar
  56. Crouch, E., and Bornstein, P., 1979, Characterization of a Type IV procollagen synthesized by human amniotic fluid cells in culture, J. Biol. Chem. 254: 4197–4204.PubMedGoogle Scholar
  57. Danlos, M., 1908, Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des Mace de Lepinay, Bull. Soc. Fr. Dermatol. 19: 70.Google Scholar
  58. Davidson, J. M., McEneany, L. S. G., and Bornstein, P., 1977, Intermediates in the conversion of procollagen to collagen: evidence for stepwise limited proteolysis of the COOH-terminal peptic extensions, Eur. J. Biochem. 81: 349–355.PubMedGoogle Scholar
  59. Deshmukh, K., and Nimni, M. E., 1969, A defect in the intramolecular and intermolecular cross-linking of collagen caused by penicillamine. II. Functional groups involved in the interaction process, J. Biol. Chem. 244: 1787–1795.PubMedGoogle Scholar
  60. Deyl, Z., Macek, K., and Adam, M., 1979, Collagen αA and αB chains constitute two separate molecular species, Biochem. Biophys. Res. Commun. 89: 627–634.PubMedGoogle Scholar
  61. Dickson, I. R., Millar, E. A., and Veis, A., 1975, Evidence for abnormality of bone matrix proteins in osteogenesis imperfecta, Lancet 2: 586–589.PubMedGoogle Scholar
  62. DiFerrante, N., Leachman, R. D., Angelini, D., Donnelly, P. W., Francis, G., and Almazan, A., 1975a, Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V, Conn. Tis. Res. 3: 48–53.Google Scholar
  63. DiFerrante, N., Leachmann, R. D., Angelini, P., Donnelly, D. V., Francis, G., Almazen, A., Segni, G., Franzblau, C., and Jordan, R. D., 1975b, Ehlers-Danlos type V (X-linked form) a lysyl oxidase deficiency, Birth Defects: Original Article Series 11(6): 31–37.Google Scholar
  64. DiFerrante, N., Tavella, D., Scott, C., Jr., Wilson, N., and Leach, C., 1978, Urinary execution of glycosaminoglycans by patients with osteogenesis imperfecta, in: Program and Abstracts Am. Soc. Human Genetics 29th Annual Meeting, 26A (Abstract).Google Scholar
  65. Dixit, S. N., 1979, Isolation and characterization of two α chain sized collagenous polypeptide chains C and D from glomerular basement membrane, FEBS Lett. 106: 379–384.PubMedGoogle Scholar
  66. Duksin, D., and Bornstein, P., 1977, Impaired conversion of procollagen to collagen by fibroblasts and bone treated with tunicamycin, an inhibitor of protein glycosylation, J. Biol. Chem. 252: 955–962.PubMedGoogle Scholar
  67. Ehlers, E., 1901, Cutis laxa, Neigung zu hemorrhagien in der Haut, Loekerung mehrerer artikulationen. Derm. Z. 8: 173.Google Scholar
  68. Ehrlich, H. P., and Bornstein, P., 1972, Microtubules in transcellular movement of procollagen, Nature (New Biology) 238: 257–260.Google Scholar
  69. Elsas, L. J., Miller, R. L., and Pinnell, S. R., 1978, Inherited human collagen lysyl hydroxylase deficiency: Ascorbic acid response, J. Pediatrics 92: 378–384.Google Scholar
  70. Epstein, E. H., Jr., 1974, [α1(III)]3 human skin collagen: Release by pepsin digestion and preponderance in fetal life, J. Biol. Chem. 249: 3225–3231.PubMedGoogle Scholar
  71. Eyre, D. R., 1980, Collagen: Molecular diversity in the body’s protein scaffold, Science 207: 1315–1322.PubMedGoogle Scholar
  72. Eyre, D. R., and Glimcher, M. J., 1972, Reducible crosslinks in hydroxylysine-deficient collagens of a heritable disorder of connective tissue, Proc. Natl. Acad. Soc. USA 69: 2594–2598.Google Scholar
  73. Eyre, D. R., and Oguchi, H., 1980, The hydroxypyridinium crosslinks of skeletal collagens: Their measurement, properties and a proposed pathway of formation. Biochem. Biophys. Res. Commun. 92: 403–410.PubMedGoogle Scholar
  74. Feingold, M., 1980, Personal communication cited in Sillence (1981).Google Scholar
  75. Fessier, J. H., and Fessier, L. I., 1978, Biosynthesis of procollagen, Ann. Rev. Biochem. 47: 129–162.Google Scholar
  76. Fessier, L. I., and Fessier, J. H., 1979, Characterization of Type III procollagen from chick embryo blood vessels, J. Biol. Chem. 254(1): 233–239.Google Scholar
  77. Fessier, L. I., Rudd, C., and Fessier, J. H., 1974, Renaturation of disulfide-linked procollagen, J. Supramol. Struct. 2: 103–107.Google Scholar
  78. Fessier, L. I., Morris, N. P., and Fessier, J. H., 1975, Procollagen-biological scission of amino and carboxyl extension peptides, Proc. Natl. Acad. Sci. USA 72: 4905–4909.Google Scholar
  79. Fietzek, P., and Kühn, K., 1975, Information contained in the amino acid sequence of the α1(I) chain of collagen and its consequences upon the formation of the triple helix, of fibrils and crosslinks, Mol. Cell. Biochem. 8: 141–157.PubMedGoogle Scholar
  80. Fleishmajer, R., Gay, S., Perlish, J. S., and Cesarini, J.-P. 1980, Immuno-electron microscopy of Type III collagen in normal and scleroderma skin, J. Invest. Dermatol. 75: 189–191.Google Scholar
  81. Foidart, J. M., and Reddi, A. H., 1980, Immunofluorescent localization of Type IV collagen and laminin during endochondral bone differentiation and regulation by pituitary growth hormone, Devel. Biol. 75: 130–136.Google Scholar
  82. Francis, G., Donnelly, P. V., and DiFerrante, N., 1976, Abnormally soluble collagen produced in fibroblast cultures, Experientia 32: 691–693.PubMedGoogle Scholar
  83. Francis, M. J. O., Smith, R., and Bauze, R. J., 1974, Instability of polymeric skin collagen is osteogenesis imperfecta, Br. Med. J. 1: 421–424.PubMedGoogle Scholar
  84. Frischauf, A. M., Lerach, H., Rosner, C., and Boedtker, H., 1978, Procollagen complimentary DNA, a probe for messenger RNA purification and the number of Type I collagen genes, Biochemistry 17: 3249.Google Scholar
  85. Fujii, J., and Tanzer, M. L., 1977, Osteogenesis imperfecta: Biochemical studies of bone collagen, Clin. Ortho. Rel. Res. 124: 271–277.Google Scholar
  86. Fujimoto, D., and Moriguchi, T., 1978, Pyridinoline, a non-reducible crosslink of collagen. J. Biochem. 83: 863–867.PubMedGoogle Scholar
  87. Fujimoto, D., Moriguchi, T., Ishida, T., and Hayashi, H., 1978, The structure of pyridinoline, a collagen crosslink, Biochem. Biophys. Res. Commun. 84: 52–57.PubMedGoogle Scholar
  88. Gardner, D. L. (ed.), 1978, Diseases of Connective Tissue, Published for The Royal College of Pathologists by the J. Clin. Path., London.Google Scholar
  89. Gay, S., and Miller, E. J., 1978, Collagen in the Physiology and Pathology of Connective Tissue, Gustav Fischer Verlag, New York.Google Scholar
  90. Gay, S., Martin, G. R., Muller, P. K., Timpl, R., and Kuhn, K., 1976, Simultaneous synthesis of Type I and III collagen by fibroblasts in culture, Proc. Natl. Acad. Sci. USA 73: 4037–4042.PubMedGoogle Scholar
  91. Glanville, R. W., Rauter, A., and Fietzek, P. P., 1979, Isolation and characterization of a native placental basement-membrane collagen and its component α chains, Eur. J. Biochem. 95: 383–389.PubMedGoogle Scholar
  92. Goldberg, B., 1974, Electron microscopic studies of procollagen from cultured human fibroblasts, Cell 1: 185–192.Google Scholar
  93. Goltz, R. W., Holt, A.-M., Goldfarb, M., and Gorlin, R. J., 1965, Cutis laxa: a manifestation of generalized elastolysis, Arch. Dermatol. 92: 373–387.PubMedGoogle Scholar
  94. Gottron, 1940, Familiare acrogeria, Archives of Derm. Berlin 181: 571–576.Google Scholar
  95. Goutieres, F., Aicardi, J., and Farkas-Bargeton, E., 1971, Une malformation cerebrale particuliere associee au nanisme thanatophore, Revue Neurologique (Paris) 125: 435–440.Google Scholar
  96. Gross, J., Highberger, J. H., and Schmitt, F. O., 1955, Extraction of collagen from connective tissue by neutral salt solutions, Proc. Natl. Acad. Sci. USA 41: 1–7.PubMedGoogle Scholar
  97. Guzman, N. A., Graves, P. N., and Prockop, D. J., 1978, Addition of mannose to both the amino and carboxyl-terminal propeptides of Type II procollagen, Biochem. Biophys. Res. Commun. 84: 691–698.PubMedGoogle Scholar
  98. Hance, A. J., and Crystal, R. G., 1975, The connective tissue of lung, Am. Rev. Resp. Dis. 112: 657–711.PubMedGoogle Scholar
  99. Harper, E. J., 1980, Collagenases, Ann. Rev. Biochem. 49: 1063–1078.PubMedGoogle Scholar
  100. Harris, E. D., 1976, Copper-induced activation of aortic lysyl oxidase in vivo, Proc. Natl. Acad. Sci. USA 73: 371–374.PubMedGoogle Scholar
  101. Harwood, R., Grant, M. E., and Jackson, D. S., 1974, Collagen biosynthesis. Characterization of subcellular fractions from embryonic chick fibroblasts and intracellular localization of procollagen prolyl and protocollagen lysyl hydroxylases, Biochem. J. 144: 123–130.PubMedGoogle Scholar
  102. Harwood, R., Grant, M. E., and Jackson, D. S., 1975, Studies on the glycosylation of hydroxylysine residues during collagen biosynthesis and the subcellular localization of collagen galactosyltransferase and collagen glucosyltransferase in tendon and cartilage cells, Biochem. J. 152: 291–302.PubMedGoogle Scholar
  103. Hashimoto, K., and Kanzaki, T., 1975, Cutis laxa: ultrastructural and biochemical studies, Arch. Dermatol. 111: 861–873.PubMedGoogle Scholar
  104. Hata, R., Nincomya, Y., Nagai, Y., and Tsukada, Y., 1980, Biosynthesis of interstitial types of collagen by albumin-producing rat liver parenchymal cell (hepatocyte) clones in culture, Biochemistry 19: 169–176.PubMedGoogle Scholar
  105. Heathcote, J. G., Sear, C. H. J., and Grant, M. E., 1978, Studies on the assembly of the rat lens capsule. Biosynthesis and partial characterization of the collagenous components, Biochem. J. 176: 283–294.PubMedGoogle Scholar
  106. Heller, R. H., Winn, K. J., and Heller, R. M., 1975, The prenatal diagnosis of osteogenesis imperfecta congenita, Am. J. Ob. Gyn. 121: 572–573.Google Scholar
  107. Hodge, A. J., 1967, Structure at the electron microscopic level, in: Treatise on Collagen I (G. N. Ramachandran, ed.), pp. 185–205, Academic Press, New York.Google Scholar
  108. Hodge, A. J., and Petruska, J. A., 1963, Recent studies with the electron microscope on ordered aggregates of tropocollagen macromolecules, in: Aspects of Protein Structure (G. N. Ramachandran, ed.), pp. 289–300, Academic Press, New York.Google Scholar
  109. Holbrook, K. A., and Byers, P. H., 1981, Ultrastructural characteristics of the skin in a form of Ehlers-Danlos syndrome Type IV: Storage in the rough endoplasmic reticulum, Lab. Invest. 44: 342–350.PubMedGoogle Scholar
  110. Holbrook, K. A., Byers, P. H., Counts, D. F., and Hegreberg, G. A., 1980, Dermatosparaxis in a himalayan cat: ultrastructural studies of dermal collagen, J. Invest. Dermatol. 74: 100–104.PubMedGoogle Scholar
  111. Hollister, D. W., 1978, Heritable disorders of connective tissue: Ehlers-Danlos syndrome, Pediatr. Clin. N. Am. 25(3): 575–591.Google Scholar
  112. Hollister, D. W., 1980, Clinical features of Ehlers-Danlos syndrome, Types VIII and IX, in: Proceedings of the Workshop on Disorders (W. A. Akeson, M. J. Glimchew, and P. Gornstein, eds.), Elsevier Press, New York.Google Scholar
  113. Hollister, D. W., and Lachman, R. S., 1976, Diastrophic dwarfism, Clin. Ortho. Rel. Res. 114: 61–69.Google Scholar
  114. Hollister, D. W., Rimoin, D. L., Lachman, R. S., Cohen, A. H., Reed, W. B., and Westin, G. W., 1974, The Winchester syndrome: A nonlysosomal connective tissue disease, J. Pediatr. 84: 701–709.PubMedGoogle Scholar
  115. Hollister, D. W., Burgeson, R. W., and Rimoin, D. L., 1975, Abnormal cartilage collagen in thanatophoric dwarfism, Am. J. Hum. Genet. 27: 783 (Abstract).Google Scholar
  116. Hollister, D. W., Burgeson, R. E., Hall, J. G., and Rimoin, D. L., 1980, Collagen studies in human achondroplasia, in preparation.Google Scholar
  117. Horton, W. A., Rimoin, D. L., Lachman, R. S., Skovby, F., Hollister, D. W., Spranger, J., Scott, C. I., and Hall, J. G., 1978, The phenotypic variability of diastrophic dwarfism, J. Pediatrics 93: 609–613.Google Scholar
  118. Horton, W. A., Rimoin, D. L., Hollister, D. W., and Silberberg, R., 1979a, Diastrophic dwarfism: A histochemical and ultrastructural study of the endochondral growth plate, Pediatric Res. 13: 904–909.Google Scholar
  119. Horton, W. A., Rimoin, D. L., Hollister, D. W., and Lachman, R. S., 1979b, Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types, J. Pediatrics 94: 736–742.Google Scholar
  120. Horwitz, A. L., Hance, A. J., and Crystal, R. G., 1977, Granulocyte collagenase: selective digestion of type I relative to type III collagen, Proc. Natl. Acad. Sci. USA 74: 897–901.PubMedGoogle Scholar
  121. Hunt, D. M., 1974, Primary defect in copper transport underlies mottled mutants in the mouse, Nature 249: 852–854.PubMedGoogle Scholar
  122. Hunt, D. M., 1976, A study of copper treatment and tissue copper levels in the murine congenital copper deficiency, mottled, Life Sci. 19: 1913–1919.PubMedGoogle Scholar
  123. Ibsen, K. H., 1967, Distinct varieties of osteogenesis imperfecta, Clin. Ortho. Rel. Res. 50: 279.Google Scholar
  124. Jansen, L. H., 1955, The structure of the connective tissue, an explanation of the symptoms of the Ehlers-Danlos syndrome, Dermatologica 110: 108–120.PubMedGoogle Scholar
  125. Jiminez, S. A., Dehm, P., and Prockop, D. J., 1971, Further evidence of a transport form of collagen. Its extension and extracellular conversion to tropocollagen in embryonic tendon, FEBS Lett. 17: 245–248.Google Scholar
  126. Judisch, G. F., Waziri, M., and Krachmer, J. H., 1976, Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity, Arch. Ophthalmol. 94: 1489–1491.PubMedGoogle Scholar
  127. Kang, A. H., Nagai, Y., Piez, K. A., and Gross, J., 1966, Studies on the structure of collagen utilizing a collagenolytic enzyme from tadpole, Biochem. 5: 509–515.Google Scholar
  128. Kefalides, N. A., 1971, Isolation of a collagen from basement membranes containing three identical α chains, Biochem. Biophys. Res. Commun. 45: 226–234.PubMedGoogle Scholar
  129. Kefalides, N. A., 1975, Basement membranes: Structural and biosynthetic considerations, J. Invest. Dermatol. 65: 85–92.PubMedGoogle Scholar
  130. Kefalides, N. A., 1978, Current status of chemistry and structure of basement membranes, in: Biology and Chemistry of Basement Membranes, pp. 215–228, Academic Press, New York.Google Scholar
  131. Kefalides, N. A., 1979, Persistence of basement membrane collagen phenotype in hybrids of human vascular endothelium and rodent fibroblasts, Fed. Proc. 38: 816.Google Scholar
  132. Kivirikko, K. I., and Myllyla, R., 1978, Collagen glycosyltransferases, Int. Rev. Conn. Tiss. Res. 8: 23–72.Google Scholar
  133. Kohler, G., and Milstein, C., 1975, Continuous cultures of fused cells secreting antibody of predefined specificity, Nature 256: 495–497.PubMedGoogle Scholar
  134. Kohn, L. D., Isersky, C., Zupnik, J., Lenaers, A., Lee, G., and Lapiere, C. M. 1974, Calf tendon procollagen peptidase: Its purification and endo peptidase mode of action, Proc. Natl. Acad. Sci. USA 71: 40–44.PubMedGoogle Scholar
  135. Kornfeld, R., and Kornfeld, S., 1980, Structure of glycoproteins and their oligosaccharide units, in: The Biochemistry of Glycoproteins and Proteoglycans (W. J. Lennarz, ed.), Plenum Press, New York.Google Scholar
  136. Krane, S. M., Goldring, S. R., Dayer, J. M., Byrne, M. H., and Quinn, R. S., 1980, Cells cultured from human bone and skin express in vivo phenotype, Calcified Tissue International (Abstract), In press.Google Scholar
  137. Kresina, T. F., and Miller, E. J., 1979, Isolation and characterization of basement membrane collagen from human placental tissue. Evidence for the presence of two genetically distinct collagen chains, Biochemistry 18: 3089–3097.PubMedGoogle Scholar
  138. Krieg, T., and Muller, P. K., 1977, The Marfan’s syndrome. In vitro study of collagen metabolism in tissue specimens of the aorta, Exp. Cell. Biol. 45: 207–221.PubMedGoogle Scholar
  139. Krieg, T., Feldmann, U., Kessler, W., and Muller, P. K., 1979, Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant, Hum. Genet. 46: 41–49.PubMedGoogle Scholar
  140. Kruse, N. J., and Bornstein, P., 1975, The metabolic requirements for the transcellular movement and secretion of collagen, J. Biol. Chem. 250: 4841–4847.PubMedGoogle Scholar
  141. Kuhn, K., Wiedemann, H., Timpl, R., Risteli, J., Dieringer, H., Voss, T., and Glanville, R. W., 1981, Macromolecular structure of basement membrane eollagens, FEBS Letters 125: 123–128.PubMedGoogle Scholar
  142. Kumamoto, C. A., and Fessier, J. H., 1980, Biosynthesis of AB procollagen, Proc. Natl. Acad. Sci. USA 77: 6434–6438.PubMedGoogle Scholar
  143. Laitinen, O., Uitto, J., Iivanainen, M., Hannuksela, M., and Kivirikko, K. I., 1968, Collagen metabolism of the skin in Marfan’s syndrome, Clin. Chim. Acta. 21: 321–326.PubMedGoogle Scholar
  144. Lamberg, S. I., and Dorfman, A., 1973, Synthesis and degradation of hyaluronic acid in the cultured fibroblasts of Marfan’s disease, J. Clin. Invest. 52: 2428–2433.PubMedGoogle Scholar
  145. Lapiere, C. M., Lenaers, A., and Kohn, L. D., 1971, Procollagen peptidase: An enzyme excising the coordination peptides of procollagen, Proc. Natl. Acad. Sci. USA 68: 3054–3058.PubMedGoogle Scholar
  146. Laurent, R., and Agache, P., 1974, Is acrogeria a fibroblast disease? Dermatologica 148: 28–38.PubMedGoogle Scholar
  147. Layman, D. L., McGoodwin, E. B., and Martin, G. R., 1971, The nature of the collagen synthesized by cultured human fibroblasts, Proc. Natl. Acad. Sci. USA 68: 454–458.PubMedGoogle Scholar
  148. Lazarides, E., and Lukens, L. N., 1971, Collagen synthesis on polysomes in vitro, Nature (New Biology) 232: 37.Google Scholar
  149. Lee, S., and Veis, A., 1980, Studies on the structure and chemistry of dentin collagen-phosphophoryn covalent complexes. Calcified Tissue International 31: 123.PubMedGoogle Scholar
  150. Lenaers, A., and Lapiere, C. M., 1975, Type III procollagen and collagen in skin, Biochim. Biophys. Acta 400: 121–131.PubMedGoogle Scholar
  151. Lenaers, A., Ansay, M., Nusgens, B. V., and Lapiere, C. M., 1971, Collagen made of extended α-chains, procollagen, in genetically-defective dermatosparaxic calves, Eur. J. Biochem. 23: 533–543.PubMedGoogle Scholar
  152. Leung, M. K. K., Fessier, L. I., and Greenberg, D. B., 1979, Separate amino and carboxyl terminal peptidases in chick embryo tendon, J. Biol. Chem. 254: 224–232.PubMedGoogle Scholar
  153. Lichtenstein, J. R., Martin, G. R., Kohn, L., Byers, P. H., and McKusick, V. A., 1973, Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome, Science 182: 298–300.PubMedGoogle Scholar
  154. Linch, D. C., and Acton, C. H. C., 1979, Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis, Br. Dental J. 147: 95–96.Google Scholar
  155. Lindahl, U., and Hook, M., 1978, Glycosaminoglycans and their binding to biological macromolecules, Ann. Rev. Biochem. 47: 385–417.PubMedGoogle Scholar
  156. Linsenmayer, T. F., and Hendrix, M. J. C., 1980, Monoclonal antibodies to connective tissue macromolecules: Type II collagen, Biochem. Biophys. Res. Commun. 92: 440–446.PubMedGoogle Scholar
  157. Linsenmayer, T. F., Hendrix, M. J. C., and Little, C. D., 1979, Production and characterization of a monoclonal antibody to chicken Type I collagen. Proc. Natl. Acad. Sci. USA 76: 3703–3707.PubMedGoogle Scholar
  158. Liotta, L. A., Abe, S., Robey, P. G., and Martin, G. R., 1979, Preferential digestion of basement membrane collagen by an enzyme derived from a metastatic murine tumor. Proc. Natl. Acad. Sci. USA 76: 2268–2272.PubMedGoogle Scholar
  159. Macek, M., Hurych, J., Chvapil, M., and Kadlecova, V., 1966, Study on fibroblasts in Marfan’s syndrome, Humangenetik 3: 87–97.PubMedGoogle Scholar
  160. Macfarlane, J. D., Hollister, D. W., Weaver, D. D., Brandt, K. D., Luzath, L., and Biegel, A. A., 1980, A new Ehlers-Danlos syndrome with skeletal dysplasia, Am. J. Hum. Genet. 32: 118A.Google Scholar
  161. Madri, J. A., and Furthmayr, H., 1979, Isolation and tissue localization of Type AB2 collagen from normal lung parenchyma, Am. J. Path. 94(2): 324–331.Google Scholar
  162. Maroteaux, P., 1979, Bone Diseases of Children, J. B. Lippincott, Philadelphia, Pennsylvania.Google Scholar
  163. Maroteaux, P., Lamy, M., and Robert, J. M., 1967, Le nanisme thanatophore, Presse Med. 75: 2519–2524.PubMedGoogle Scholar
  164. Matalon, R., and Dorfman, A., 1968, The accumulation of hyaluronic acid in cultured fibroblasts of the Marfan syndrome, Biochem. Biophys. Res. Commun. 32: 150–154.PubMedGoogle Scholar
  165. Mayne, R., Vail, M. S., and Miller, E. J., 1978, Characterization of the collagen chains synthesized by cultured smooth muscle cells derived from rhesus monkey thoracic aorta, Biochem. 17: 446–452.Google Scholar
  166. McKusick, V. A., 1972, Heritable Disorders of Connective Tissue, 4th ed., C. V. Mosby, St. Louis, Missouri.Google Scholar
  167. Meigel, W. N., Muller, P. K., Pontz, B. F., Sorensen, N., and Spranger, J., 1974, A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis, Klin. Wochenschr. 52: 906–912.PubMedGoogle Scholar
  168. Miller, E. J., 1971, Collagen cross-linking: Identification of two cyanogen bromide peptides containing sites of intermolecular cross-link formation in cartilage collagen, Biochem. Biophys. Res. Commun. 45(2): 444–451.PubMedGoogle Scholar
  169. Miller, E. J., 1972, Structural studies on cartilage collagen employing limited cleavage and solubilization with pepsin, Biochemistry 11: 4903–4909.PubMedGoogle Scholar
  170. Miller, E. J., 1976, Biochemical characteristics and biological significance of the genetically-distinct collagens, Mol. Cell. Biochem. 13: 165–192.PubMedGoogle Scholar
  171. Miller, E. J., and Lunde, L. G., 1973, Isolation and characterization of the cyanogen bromide peptides from the α1(II) chain of govine and human cartilage collagen, Biochemistry 12: 3153–3159.PubMedGoogle Scholar
  172. Miller, E. J., Epstein, E. H., Jr., and Piez, K. A., 1971, Identification of three genetically distinct collagens by cyanogen bromide cleavage of insoluble human skin and cartilage collagen, Biochem. Biophys. Res. Commun. 42: 1024–1029.PubMedGoogle Scholar
  173. Miller, R. L., Elsas, L. J., and Priest, R. E., 1979, Ascorbate action on normal and mutant human lysyl hydroxylases from cultured dermal fibroblasts, J. Invest. Dermatol. 72: 241–247.PubMedGoogle Scholar
  174. Minor, R. R., 1980, Collagen metabolism, Am. J. Path. 98: 227–277.Google Scholar
  175. Minor, R. R., Clark, C. C., Strause, E. L., Koszalka, R. R., Brent, R. L., and Kefalides, N. A., 1976, Basement membrane procollagen is not converted to collagen in organ cultures of parietal yolk sac endoderm, J. Biol. Chem. 251: 1789–1794.PubMedGoogle Scholar
  176. Moriguchi, T., and Fujimoto, D., 1979, Crosslink of collagen in hypertrophic scar, J. Invest. Dermatol. 72: 143–145.PubMedGoogle Scholar
  177. Muir, H., 1978, Proteoglycans of cartilage, J. Clin. Path. (Suppl.) 12: 67–81.Google Scholar
  178. Muller, P. K., Raisch, K., Matzen, K., and Gay, S., 1977, Presence of Type III collagen in bone from a patient with osteogenesis imperfecta, Eur. J. Pediatr. 125: 29–37.PubMedGoogle Scholar
  179. Narayanan, A. S., Siegel, R. C., and Martin, G. R., 1974, Stability and purification of lysyl oxidase, Arch. Biochem. Biophys. 162: 231–237.PubMedGoogle Scholar
  180. Nevo, Z., and Dorfman, A., 1972, Stimulation of chondromucoprotein synthesis in chondrocytes by extracellular chondromucoprotein, Proc. Natl. Acad. Sci. USA 69(8): 2069–2072.PubMedGoogle Scholar
  181. Nicholls, A. C., Pope, F. M., and Schloon, H., 1979, Biochemical heterogeneity of osteogenesis imperfecta: New variant, Lancet 1: 1193.PubMedGoogle Scholar
  182. Nimni, M. E., 1968, A defect in the intramolecular and intermolecular cross-linking of collagen caused by penicillamine, J. Biol. Chem. 243: 1457–1466.PubMedGoogle Scholar
  183. Nowack, H., Gay, S., Wick, G., Becker, U., and Timpl, R., 1976, Preparation and use in immunohistology of antibodies specific for Type I and Type III collagen and procollagen, J. Immunol. Meth. 12: 117–124.Google Scholar
  184. Olsen, B. R., Schwartz, M., Beckwith, J., Dobberstein, B., Farquhar, M. G., Franke, W. W., Herth, W., Jamieson, J. D., and Kraehenberg, J. P., 1978, Secretion of macromolecules group report, Life Sci. R. 11: 591–610.Google Scholar
  185. Paglia, L., Wilczek, J., Diaz de Leon, L., Martin, G. R., Horlein, D., and Muller, P. K., 1979, Inhibition of procollagen cell-free synthesis by amino-terminal extension peptides, Biochemistry 18(22): 5030–5034.PubMedGoogle Scholar
  186. Palmiter, R. D., Davidson, J. M., Gagnon, J., Rowe, D. W., and Bornstein, P., 1979, NH2-terminal sequence of the chick pro α1(I) chain synthesized in the reticulocyte lysate system, J. Biol. Chem. 254(5): 1433–1436.PubMedGoogle Scholar
  187. Partington, M. W., Gonzales-Crussi, F., Khakee, S. G., and Wollin, D. G., 1971, Cloverleaf skull and thanatophoric dwarfism: Report of four cases, two in the same sibship, Arch. Dis. Child. 46: 656–664.PubMedGoogle Scholar
  188. Peltonen, L., Palotie, A., Hayashi, T., and Prockop, D. J., 1980a, Thermal stability of Type I and Type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta, Proc. Natl. Acad. Sci. USA 77: 162–166.PubMedGoogle Scholar
  189. Peltonen, L., Palotie, A., and Prockop, D. J., 1980b, A defect in the structure of Type I procollagen in a patient who had osteogenesis imperfecta: Excess mannose in the COOH-terminal propeptide, Proc. Natl. Acad. Sci. USA 77: 6179–6183.PubMedGoogle Scholar
  190. Penttinen, R. P., Lichtenstein, J. R., Martin, G. R., and McKusick, V. A., 1975, Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta, Proc. Natl. Acad. Sci. USA 72: 586–589.PubMedGoogle Scholar
  191. Penttinen, R., Sipola, E., Kouvaleinen, K., Simila, S., and Remes, M., 1980, Anarthropathic form of osteogenesis imperfecta, Acta Paediatr. Scand. 69: 263–267.PubMedGoogle Scholar
  192. Piez, K. A., 1972, Homology between the α1 and α2 chains of collagen, Biochem. Biophys. Res. Commun. 48: 990–995.PubMedGoogle Scholar
  193. Piez, K. A., 1976, Primary structure, in: Biochemistry of Collagen (G. N. Ramachandran and A. H. Reddi, eds.), Plenum Press, New York.Google Scholar
  194. Piez, K. A., Eigner, E. A., and Lewis, M. S., 1963, The chromatographic separation and amino acid composition of the subunits of several collagens, Biochemistry 2: 58–66.Google Scholar
  195. Piez, K. A., and Miller, A., 1974, The structure of collagen fibrils, J. Supramol. Struct. 2: 121–137.PubMedGoogle Scholar
  196. Pinnell, S. R., 1978, Disorders of collagen, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Frederickson, eds.), Chapter 57, pp. 1366–1394, McGraw-Hill, New York.Google Scholar
  197. Pinnell, S. R., Martin, G. R., and Miller, E. J., 1968, Desmosine biosynthesis—nature of inhibition by D-penicillamine, Science 161: 475–476.PubMedGoogle Scholar
  198. Pinnell, S. R., Krane, S. M., Kenzora, J. E., and Glimcher, M. J., 1972, A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease, New Eng. J. Med. 286: 1013–1020.PubMedGoogle Scholar
  199. Ponseti, I. V., 1974, Skeletal lesions produced by aminonitriles, Current Topics in Path. 59: 181–240.Google Scholar
  200. Pope, F. M., and Nicholls, A. C., 1980, Heterogeneity of osteogenesis imperfecta congenita, Lancet 1: 820–821.PubMedGoogle Scholar
  201. Pope, F. M., Martin, G. R., Lichtenstein, J. R., Penttinen, R. P., Gerson, G., Rowe, D. W., and McKusick, V. A., 1975, Patients with Ehlers-Danlos syndrome Type IV lack Type III collagen, Proc. Natl. Acad. Sci. USA 72: 1314–1316.PubMedGoogle Scholar
  202. Pope, F. M., Martin, G. R., and McKusick, V. A., 1977, Inheritance of Ehlers-Danlos Type IV syndrome, J. Med. Genet. 14: 200–204.PubMedGoogle Scholar
  203. Pope, F. M., Nicholls, A. C., Eggleton, C., Narcissi, P., Hey, E. N., and Parkin, J. M., 1980a, Osteogenesis imperfecta (lethal) bones contain Types III and V collagen, J. Clin. Path. 33: 534–538.PubMedGoogle Scholar
  204. Pope, F. M., Nicholls, A. C., Jones, P. M., Wells, R. S., and Lawrence, D., 1980b, EDS IV (acrogeria): New autosomal dominant and recessive types, J. Roy. Soc. Med. 73: 180–186.PubMedGoogle Scholar
  205. Priest, R. E., Moinuddin, J. F., and Priest, J. H., 1973, Collagen of Marfan syndrome is abnormally soluble, Nature 245: 264–266.PubMedGoogle Scholar
  206. Prockop, D. J., 1972, A subtle disease and a dilemma: Can cells secrete collagen that does not contain a sugar tag? New Eng. J. Med. 286: 1055–1056.PubMedGoogle Scholar
  207. Prockop, D. J., Kivirikko, K. I., Tuderman, L., and Guzman, N. A., 1979, The biosynthesis of collagen and its disorders, New Eng. J. Med. 301: 13–23, 77–85.PubMedGoogle Scholar
  208. Pyeritz, R. E., and McKusick, V. A., 1979, The Marfan syndrome: Diagnosis and management, New Engl J. Med. 300: 772–775.PubMedGoogle Scholar
  209. Quinn, R. S., and Krane, S. M., 1976, Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of sibling with hydroxylysine deficient collagen, J. Clin. Invest. 57: 83–93.PubMedGoogle Scholar
  210. Ramachandran, G. N., 1967, Structure of collagen at the molecular level, in: Treatise on Collagen (G. N. Ramachandran, ed.), Vol. 1, pp. 103–183, Academic Press, New York.Google Scholar
  211. Rauterberg, J., 1973, The C-terminal non-helical portion of the collagen molecule, Clin. Ortho. Rel. Res. 97: 196–212.Google Scholar
  212. Reddi, A. H., Gay, R., Gay, S., and Miller, E. J., 1977, Transitions in collagen types during matrix-induced cartilage, bone and bone marrow formation, Proc. Natl. Acad. Sci. USA 74: 5589–5592.PubMedGoogle Scholar
  213. Rhodes, R. K., and Miller, E. J., 1978, Physicochemical characterization and molecular organization of the collagen A and B chains, Biochemistry 17: 3442–3452.PubMedGoogle Scholar
  214. Rimoin, D. L., 1975, The chondrodystrophies, Adv. Hum. Genet. 5: 1–118.PubMedGoogle Scholar
  215. Rimoin, D. L., 1978, International nomenclature of constitutional diseases of bone, J. Pediatrics 93(4): 614–616.Google Scholar
  216. Rimoin, D. L., Hughes, G. N., Kaufman, R. L., Rosenthal, R. E., McAlister, W. H., and Silberberg, R., 1970, Endochondral ossification in achondroplastic dwarfism, New Eng. J. Med. 83: 728–735.Google Scholar
  217. Rimoin, D. L., Silberberg, R., and Hollister, D. W., 1976, Chondro-osseous pathology in the chondrodystrophies, Clin. Ortho. Rel. Res. 114: 137–151.Google Scholar
  218. Risteli, J., Tryggvason, K., and Kivirikko, K. I., 1977, Prolyl 3-hydroxylase: Partial characterization of the enzyme from rat kidney cortex, Eur. J. Biochem. 73: 485–492.PubMedGoogle Scholar
  219. Risteli, L., Risteli, J., Ihme, A., Krieg, T., and Muller, P. K., 1980, Preferential hydroxylation of Type IV collagen by lysyl hydroxylase from Ehlers-Danlos syndrome Type IV fibroblasts, Biochem. Biophys. Res. Commun. 96: 1778–1784.PubMedGoogle Scholar
  220. Robins, S. P., Shimokomaki, M., and Bailey, A. J., 1973, The chemistry of the collagen cross-links, Biochem. J. 131: 771–780.PubMedGoogle Scholar
  221. Rojkind, M., Giambrone, M. A., and Biempica, L., 1979, Collagen types in normal and cirrhotic liver, Gastroenterology 76: 710–719.PubMedGoogle Scholar
  222. Rosenbloom, J., Harsch, M., and Jimenez, S., 1973, Hydroxyproline content determines the denaturation temperature of chick tendon collagen, Arch. Biochem. Biophys. 158: 478–484.PubMedGoogle Scholar
  223. Rosenbloom, J., Endo, R., and Harsch, M., 1976, Termination of procollagen chain synthesis by puromycin. Evidence that assembly and secretion require a COOH-terminal extension, J. Biol. Chem. 251: 2070–2076.PubMedGoogle Scholar
  224. Rowe, D. W., and Shapiro, J., 1981, Biochemical features of cultured skin fibroblasts from patients with osteogenesis imperfecta, in: Proceedings of the Workshop on Inherited Connective Disorders (W. A. Akeson, M. J. Glimcher, and P. Bornstein, eds.), Elsevier Press, New York.Google Scholar
  225. Rowe, D. W., McGoodwin, E. B., Martin, G. R., Sussman, M. D., Grahn, D., Faris, B., and Franzblau, C., 1974, An inherited sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice, J. Exp. Med. 139: 180–192.PubMedGoogle Scholar
  226. Rowe, D. W., McGoodwin, E. B., Martin, G. R., and Grahn, D. 1977, Lysyl oxidase activity in the aneurysm prone mottled mouse, J. Biol. Chem. 252: 939–942.PubMedGoogle Scholar
  227. Sack, G., 1936, Status dysvascularis; ein fall von besonderer zerreisslichkeit der blutgefasse, Deutsch. Arch. Klin. Med. 178: 663–669.Google Scholar
  228. Sage, H., and Bornstein, P., 1979, Characterization of a novel collagen chain in human placenta and its relation to AB collagen, Biochemistry 18: 3815–3822.PubMedGoogle Scholar
  229. Sage, H., Woodbury, R. G., and Bornstein, P., 1979, Structural studies on human Type IV collagen, J. Biol. Chem. 254: 9893–9900.PubMedGoogle Scholar
  230. Saint-Martin, J., Peborde, J., Dupont, H., Bequere, A., and Labes, A., 1979, Malformations osseuses complexes d’evolution lethale, Arch. Fr. Pediatr. 36: 188.PubMedGoogle Scholar
  231. Sakakibara, S., Inouye, K., Shudo, K., Kishida, Y., Kobayashi, Y., and Prockop, D. J., 1973, Evidence for the stabilization of collagen triple helix by hydroxyproline, Biochim. Biophys. Acta 303: 198–202.PubMedGoogle Scholar
  232. Sayers, C. P., Goltz, R. W., and Mottaz, J., 1975, Pulmonary elastic tissue in generalized elastolysis (cutis laxa) and Marfan’s syndrome: A light and electron microscopic study, J. Invest. Dermatol. 65: 451–457.PubMedGoogle Scholar
  233. Schachter, H., and Roseman, S., 1980, Mammalian glycosyltranserases: Their role in the synthesis and function of complex carbohydrates and glycolipids, in: The Biochemistry of Glycoproteins and Proteoglycans (W. J. Lennarz, ed., pp. 85–160, Plenum Press, New York.Google Scholar
  234. Scheck, M., Siegel, R. C., Parker, J., Chang, Y.-H., and Fu, J. C. C., 1979, Aortic aneurysm in Marfan’s syndrome: Changes in the ultrastructure and composition of collagen, J. Anat. 219: 645–657.Google Scholar
  235. Seedorf, K. S., 1949, Osteogenesis imperfecta: A study of clinical features and heredity based upon 55 Danish families comprising 180 affected members, Universitets forlaget I Arhus., Copenhagen.Google Scholar
  236. Sevenich, M., Schultz-Ehrenburg, U., and Orfanos, C. E., 1980, Ehlers-Danlos syndrome: A disease of fibroblasts and collagen fibrils, Arch. Dermatol. Res. 267: 237–251.PubMedGoogle Scholar
  237. Seyer, J. M. and Kang, A. H., 1981, Covalent structure of collagen: amino acid sequence of α1(III)-CB9 from type III collagen of human liver, Biochemistry 20: 2621–2627.PubMedGoogle Scholar
  238. Shinkai, H., Hirabayashi, O., Tameki, A., Matsubayashi, S., and Seno, S., 1976, Connective tissue metabolism in culture fibroblasts of a patient with Ehlers-Danlos syndrome Type I, Arch. Dermatol. Res. 257: 113–123.PubMedGoogle Scholar
  239. Siegel, R. C., 1977, Collagen cross-linking. Effect of D-penicillamine on cross-linking in vitro, J. Biol. Chem. 252: 254–259.PubMedGoogle Scholar
  240. Siegel, R. C., 1979, Lysyl oxidase, Int. Rev. Conn. Tiss. Res. 8: 73–118.Google Scholar
  241. Siegel, R. C., and Chang, Y. H., 1978, Defective α2 chain synthesis in patients with sporadic Marfan syndrome, Clin. Res. 26: 510A.Google Scholar
  242. Siegel, R. C., Black, C. M., and Bailey, A. J., 1979, Cross-linking of collagen in the X-linked Ehlers-Danlos Type V, Biochem. Biophys. Res. Commun. 88: 281–287.PubMedGoogle Scholar
  243. Sillence, D. O., 1981, Osteogenesis imperfecta—an expanding panorama, Clin. Ortho. Rel. Res., in press.Google Scholar
  244. Sillence, D. O., Rimoin, D. L., and Danks, D. M., 1979a, Clinical variability in osteogenesis imperfecta—variable expressivity or clinical heterogeneity, Birth Defects 15(5B): 113–129.PubMedGoogle Scholar
  245. Sillence, D. O., Senn, A. S., and Danks, D. M., 1979b, Genetic heterogeneity in osteogenesis imperfecta, J. Med. Genet. 16: 101–116.PubMedGoogle Scholar
  246. Solursh, M., Vaerewyck, S. A., and Reiter, R. S., 1974, Depression by hyaluronic acid of glycosaminoglycan synthesis by cultured chick embryo chondrocytes, Devel. Biol. 41: 233–244.Google Scholar
  247. Speakman, P. T., 1971, Proposed mechanism for the biological assembly of collagen triple helix, Nature 229: 241–243.PubMedGoogle Scholar
  248. Spiro, R. G., 1973, Glycoproteins, Adv. Protein Chem. 27: 349–467.PubMedGoogle Scholar
  249. Spranger, J. W., Langer, L. O., Jr., and Wiedemann, H. R., 1974, Bone Dysplasias: An Atlas of Constitutional Disorders of Skeletal Development, W. B. Saunders, Philadelphia.Google Scholar
  250. Stanescu, V., Maroteaux, P., and Stanescu, R., 1976, Etude par electrophorese sur gel, des chaines α et des CNBr peptides du collagene du cartilage de croissance dans les chondrodysplasies, Ann. Genet. 19: 119–125.PubMedGoogle Scholar
  251. Steinmann, B., Gitzelman, R., Vogel, A., Grant, M. E., Harwood, R., and Sear, C. H. J., 1975, Ehlers-Danlos Syndrome in 2 siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin, Helv. Pediatr. Acta 30: 255–74.Google Scholar
  252. Steinmann, B. U., Martin, G. R., Baum, B. I., and Crystal, G., 1979, Synthesis and degradation of collagen by skin fibroblasts from controls and from patients with osteogenesis imperfecta, FEBS Lett. 101: 269–272.PubMedGoogle Scholar
  253. Steinmann, B., Tuderman, L., Peltonen, L., Martin, G. R., McKusick, V. A., and Prockop, D. J., 1980, Evidence for a structural mutation of procollagen Type I in a patient with the Ehlers-Danlos syndrome Type VII, J. Biol. Chem. 255: 8887–8893.PubMedGoogle Scholar
  254. Stenn, K. S., Madri, J. A., and Roll, F. J., 1979, Migrating epidermis produces AB2 collagen and requires continual collagen synthesis for movement, Nature 277: 299–232.Google Scholar
  255. Stevenson, C. J., Bottoms, E., and Shuster, S., 1970, Skin collagen in osteogenesis imperfecta, Lancet 1: 860–861.PubMedGoogle Scholar
  256. Stewart, R. E., Hollister, D. W., and Rimoin, D. L., 1977, A new variant of Ehlers-Danlos syndrome: An autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis, Birth Defects: Original Article Series XIII(3B): 85–93.Google Scholar
  257. Stoltz, M., Timpl, R., and Kuhn, K., 1972, Non-helical regions in rat collagen α1-chain. FEBS Lett. 26(1): 61–65.Google Scholar
  258. Strawich, E., and Nimni, M. E., 1971, Properties of a collagen molecule containing three identical components extracted from bovine articular cartilage, Biochemistry 10(21): 3905–3911.PubMedGoogle Scholar
  259. Struck, D. K., and Lennarz, W. J., 1980, Function of saccharide-lipids in the synthesis of glycoproteins, in: Biochemistry of Glycoproteins and Proteoglycans (W. J. Lennarz, ed.), pp. 35–83, Plenum Press, New York.Google Scholar
  260. Sundar Raj, C. V., Church, R. L., Klobutcher, L. A., and Ruddle, F. H., 1977, Genetics of connective tissue proteins—assignment of gene for human Type I collagen to chromosome 17 by analysis of cell hybrids and microcell hybrids, Proc. Natl. Acad. Sci. USA 74: 4444–4448.PubMedGoogle Scholar
  261. Sussman, M., Lichtenstein, J. R., Nigra, T. P., Martin, G. R., and McKusick, V. A., 1974, Two biochemically defined forms of Ehlers-Danlos syndrome with scoliosis, J. Bone Joint Surgery 56A: 1228–1234.Google Scholar
  262. Svejcar, J., 1975, Biochemical analysis of epiphyseal cartilage during growth and in some chondrodysplasias, Birth Defects: Original Article Series XI(6): 227–230.Google Scholar
  263. Sykes, B. C., and Solomon, E., 1978, Assignment of a Type I collagen structural gene to human chromosome 7, Nature 272: 548–549.PubMedGoogle Scholar
  264. Sykes, B., Francis, M. J. O., and Smith, R., 1977, Altered relation of two collagen types in osteogenesis imperfecta, New Eng. J. Med. 296: 1200–1203.PubMedGoogle Scholar
  265. Tanzer, M. L., Housley, T., Berube, L., Fairweather, R., Franzblau, C., and Gallop, P. M., 1973, Structure of two histidine-containing cross-links from collagen, J. Biol. Chem. 248: 393–402.PubMedGoogle Scholar
  266. Timpl, R., Wick, G., and Gay, S., 1977, Antibodies to distinct types of collagens and procollagens and their application in immunohistology, J. Immunol. Meth. 18: 165–182.Google Scholar
  267. Timpl, R., Martin, G. R., Bruckner, P., Wick, G., and Wiedemann, H., 1978, Nature of the collagenous protein in a tumor basement membrane, Eur. J. Biochem. 84: 43–52.PubMedGoogle Scholar
  268. Timpl, R., Martin, G. R., and Bruckner, P., 1979, Structure of basement membrane collagen obtained from a mouse tumor, Frontiers of Matrix Biology 7: 130–141.Google Scholar
  269. Timpl, R., Wiedemann, H., Van Delden, V., Furthmayr, H., and Kuhn, K., 1981, A network model for the organization of Type IV collagen molecules in basement membranes, Eur. J. Biochem. 120: 203–211.PubMedGoogle Scholar
  270. Toole, B. P., 1976, Binding and precipitation of soluble collagens by chick embryo cartilage proteoglycan, J. Biol. Chem. 251: 895–897.PubMedGoogle Scholar
  271. Trelstad, R. L., 1974, Human aorta collagens: Evidence for three distinct species, Biochem. Biophys. Res. Commun. 57: 717–725.PubMedGoogle Scholar
  272. Trelstad, R. L., and Lawley, K. R., 1977, Isolation and initial characterization of human basement membrane collagens, Biochem. Biophys. Res. Commun. 76: 376–384.Google Scholar
  273. Trelstad, R. L., Rubin, D., and Gross, J., 1977, Osteogenesis imperfecta congenita: Evidence for a generalized molecular disorder of collagen, Lab. Invest. 36: 501–508.PubMedGoogle Scholar
  274. Tryggvason, J., Risteli, J., and Kivirikko, K. I., 1977, Separation of prolyl 3-hydroxylase and 4-hydroxylase activities and the 4-hydroxyproline requirement for synthesis of 3-hydroxyproline, Biochem. Biophys. Res. Commun. 76: 275–281.Google Scholar
  275. Tryggvason, K., Robey, P. G., and Martin, G. R., 1980, Biosynthesis of Type IV procollagens, Biochemistry 19: 1284–1289.PubMedGoogle Scholar
  276. Tuderman, L., Kivirikko, K. I., and Prockop, D. J., 1978, Partial purification and characterization of a neutral protease which cleaves N-terminal propeptides from collagen, Biochemistry 17: 2948–2954.PubMedGoogle Scholar
  277. Turkainen, H., Laijava, H., Saarni, H., and Penttinen, R. P., 1980, Biochem. Biophys. Acta 628: 388–390.Google Scholar
  278. Uitto, J., 1979, Collagen polymorphism: Isolation and partial characterization of α1(I)-trimer molecules in normal human skin, Arch. Biochem. Biophys. 192: 371–379.PubMedGoogle Scholar
  279. Uitto, J., and Prockop, D. J., 1973, Rate of helix formation by intracellular procollagen and protocollagen. Evidence for a role for disulfide bonds, Biochem. Biophys. Res. Commun. 55: 904–911.PubMedGoogle Scholar
  280. Vogel, A., and Steinmann, B., 1980, Ultrastructural studies of skin from a patient with a new type of Ehlers-Danlos syndrome (EDS) characterized by a structural mutation of procollagen, J. Cut. Path. 6: 177.Google Scholar
  281. Vogel, A., Holbrook, K. A., Steinmann, B., Gitzelmann, R., and Byers, P. H., 1979, Abnormal collagen fibril structure in the gravis form (Type 1) of the Ehlers-Danlos syndrome, Lab. Inv. 40: 201–206.Google Scholar
  282. Vogeli, G., Avvedimento, E. G., Sullivan, M., Maizel, J. V., Lozano, G., Adams, S. L., Pastan, I., and deCrombrugghe, B., 1980, Isolation and characterization of genomic DNA coding for α2 type I collagen, Nucleic Acids Res. 8: 1823–1837.PubMedGoogle Scholar
  283. Waechter, C. J., and Lennarz, W. J., 1976, The role of polyprenol-linked sugars in glycoprotein synthesis, Ann. Rev. Biochem. 45: 95–112.PubMedGoogle Scholar
  284. Walker, B. A., Beighton, P., and Murdoch, J. L., 1969, The Marfanoid hypermobility syndrome, Ann. Intern. Med. 71: 349–352.PubMedGoogle Scholar
  285. Weinstock, M., and Leblond, C. P., 1974, Synthesis, migration and release of precursor collagen by odontoblasts as visualized by radioautography after (3H)-proline administration, J. Cell. Biol. 60: 92–127.PubMedGoogle Scholar
  286. Weiss, J. B., 1976, Enzymatic degradation of collagen, Int. Rev. Conn. Tiss. Res. 7: 101–157.Google Scholar
  287. Wiestner, M., Krieg, T., Horlein, D., Glanville, R. W., Fietzek, P. P., and Muller, P. K., 1979, Inhibiting effect of procollagen peptides on collagen biosynthesis in fibroblast cultures, J. Biol. Chem. 254: 7016–7023.PubMedGoogle Scholar
  288. Wozney, J., Hanahan, D., Morimoto, R., Boedtker, H., and Doty, P., 1981, Fine structural analysis of the chicken pro alpha 2 collagen gene, Proc. Natl. Acad. Sci. USA 78: 712–716.PubMedGoogle Scholar

Copyright information

© Plenum Press, New York 1982

Authors and Affiliations

  • David W. Hollister
    • 1
  • Peter H. Byers
    • 2
  • Karen A. Holbrook
    • 3
  1. 1.Division of Medical Genetics, Departments of Pediatrics and MedicineHarbor-UCLA Medical Center, UCLA School of MedicineTorranceUSA
  2. 2.Departments of Pathology and MedicineUniversity of WashingtonSeattleUSA
  3. 3.Departments of Biological Structure and MedicineUniversity of WashingtonSeattleUSA

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