New PDF release: Advances in Human Genetics: 12

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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Modified lysine residues are called "allysine" and modified hydroxylysine residues "hydroxyallysine" (Fig. 2, top). These aldehydes can undergo spontaneous condensation reactions at neutral pH to produce several different products (Fig. 2). If an allysine residue is paired with an unmodified lysine, a Schiff base (aldimine) is formed between the aldehyde and the amino group. If two ally sine residues are paired, an "aldol" condensation product is formed. Analogous reactions occur with hydroxylysine and hydroxyallysine (Fig.

EDS VII Type VII EDS, arthrochalasis multiplex congenita, is characterized by extreme joint laxity, soft but nonfragile skin, minimal bruising, and only mild skin hyperextensibility. Several affected individuals have been reported with bilateral congenital hip dislocation, which was difficult to stabilize, and who subsequently had mUltiple dislocations at other joints. , 1973). , 1980) and found to have a structural abnormality in about half the a2 chains of Type I collagen. Tissue from this patient contains an apparently partially converted a2 chain which retained the amino-terminal propeptide.

14 David W. Hollister, Peter H. Byers, and Karen A. Holbrook this chain occurs alone in the native molecule, or in various combination with the aA and aB chains. No data are yet available regarding the localization of this chain in tissue. Classification Why are so many apparently similar structural molecules required? Presumably, this molecular diversity reflects different functional and structural requirements, but the current understanding of the specific roles of the collagens is far from satisfactory.

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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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