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

Nature Genetics volume 9, pages 31–36 (1995)Cite this article

Abstract

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 α2(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

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Authors and Affiliations

  1. Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, New York, 10029, USA

    Konstantinos Andrikopoulos & Francesco Ramirez

  2. Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Nine Cambridge Center, Cambridge, Massachusetts, 02142, USA

    Xin Liu & Rudolf Jaenisch

  3. Department of Biology, Massachusetts, Institute of Technology, Nine Cambridge Center, Cambridge, Massachusetts, 02142, USA

    Rudolf Jaenisch

  4. Shriners Hospital for Crippled Children, 3101 S.W. Sam Jackson Park Road, Portland, Oregon, 97201, USA

    Douglas R. Keene

Authors
  1. Konstantinos Andrikopoulos
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  2. Xin Liu
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  3. Douglas R. Keene
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  4. Rudolf Jaenisch
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  5. Francesco Ramirez
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Andrikopoulos, K., Liu, X., Keene, D. et al. Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly. Nat Genet 9, 31–36 (1995). https://doi.org/10.1038/ng0195-31

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