The Journal of Experimental Medicine, Vol 139, 180-192,
Copyright © 1974 by The Rockefeller University Press
A SEX-LINKED DEFECT IN THE CROSS-LINKING OF COLLAGEN AND ELASTIN ASSOCIATED WITH THE MOTTLED LOCUS IN MICE
David W. Rowe 1,
Ermona B. McGoodwin 1,
George R. Martin 1,
Michael D. Sussman 1,
Douglas Grahn 1,
Barbara Faris 1, and
Carl Franzblau 1
1 From the Laboratory of Biochemistry, National Institute of Dental Research, National Institutes of Health, Bethesda, Maryland 20014, Argonne National Laboratory, Argonne, Illinois 60439, and Department of Biochemistry, Boston University, Boston, Massachusetts 01418
A genetic abnormality in collagen and elastin cross-linking resembling experimental lathyrism has been identified in mice. The defect is an X-linked trait, attributed to the mottled locus which also influences coat color. The affected mice have aneurysms of the aorta and its branches, weak skin, and bone deformities in a spectrum of severity varying with the alleles at the mottled locus.
A defect in the cross-linking of collagen was demonstrated in the skin of the affected animals by a marked increase in collagen extractability and a reduced proportion of cross-linked components in the extracted collagen. A decrease in lysine-derived aldehyde levels was found in both skin collagen and aortic elastin similar to that found in lathyritic tissue. Furthermore the in vitro formation of lysine-derived aldehyde was reduced. Thus the cause of the connective tissue abnormalities in these mice appears to be a defect in cross-link formation due to an impairment in aldehyde formation.
Submitted on September 19, 1973
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