David W. Hollister, Peter H. Byers, Karen A. Holbrook's Advances in Human Genetics: 12 PDF

By David W. Hollister, Peter H. Byers, Karen A. Holbrook (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 1461583152

ISBN-13: 9781461583158

ISBN-10: 1461583179

ISBN-13: 9781461583172

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Although artifical collagen fibrils display a normal collagen band pattern, they differ in two important respects from collagen fibrils found in tissue; they have no tensile strength, and are easily redissolved. Cross-linking It is difficult to overemphasize the biologic importance of collagen cross-link formation. In the absence of cross-links, collagen fibers have little or no tensile strength. A major reduction in cross-link formation, such as occurs in animals treated with drugs that block cross-linking, results in severe (usually lethal) generalized connective tissue disease.

Only a small number of residues are hydroxylated (fewer than ten in anyone mammalian collagen) and the function of this post-translational modification is unknown. Lysyl hydroxylase shares cofactors with both prolyl hydroxylases, and has been purified from them. , 1974). Hydroxylation of lysyl residues appears to proceed as the nascent chain traverses the RER membrane, then ceases with helix formation. Both intrahelical sites and extrahelical sites in Type I collagen are loci for enzyme action (Piez, 1976).

It will become apparent that the data to be discussed represent only the beginning of studies of the heritable disorders of collagen metabolism, and that many disorders remain unexplored. It is our purpose to describe the progress which has been made in the hope of stimulating further interest and research into these diseases. The disorders of collagen degradation have been reviewed recently by Bauer (1981). The Ehlers-Danlos Syndrome The Ehlers-Danlos syndrome (EDS) encompasses a heterogeneous group of disorders which have in common abnormalities in skin, joints, and other connective tissues (Beighton, 1970; McKusick, 1972; Bornstein and Byers, 1980).

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Advances in Human Genetics: 12 by David W. Hollister, Peter H. Byers, Karen A. Holbrook (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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