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Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.

Andrikopoulos K., Liu X., Keene D.R., Jaenisch R., Ramirez F.

The tissue-specific organization of collagen molecules into tridimensional macroaggregates determines the physiomechanical properties of most connective tissues, but the factors and mechanisms controlling this process are unknown. It has been postulated that quantitatively minor types V and XI collagen regulate the growth of type I and II collagen fibrils, respectively. To test this hypothesis, we created mice that produce a structurally abnormal alpha 2(V) collagen chain. Homozygous mutant mice survive poorly, possibly because of complications from spinal deformities, and exhibit skin and eye abnormalities caused by disorganized type I collagen fibrils. Our results demonstrate that type V collagen is a key determinant in the assembly of tissue-specific matrices, and provide an animal model for human connective tissue disorders.

Nat. Genet. 9:31-36(1995) [PubMed] [Europe PMC]

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