Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition

The vertebrate skeleton is formed primarily by endochondral ossification, starting during embryogenesis when cartilage anlagens develop central regions of hypertrophic cartilage which are replaced by bony trabeculae and bone marrow. During this process chondrocytes express a unique matrix molecule,...

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Bibliographic Details
Published in:Nature (London) 1993-09, Vol.365 (6441), p.56-61
Main Authors: Jacenko, Olena, LuValle, Phyllis A, Olsen, Bjorn R
Format: Article
Language:English
Subjects:
Animals
Base Sequence
Biological and medical sciences
Bone and Bones - metabolism
Bone and Bones - pathology
Cartilage - metabolism
Cartilage - pathology
Chickens
Collagen - genetics
Diseases of the osteoarticular system
DNA
Genes, Dominant
Genetics
Immunoenzyme Techniques
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical research
Medical sciences
Mice
Mice, Inbred C57BL
Mice, Transgenic
Molecular Sequence Data
Mutation
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - genetics
Osteochondrodysplasias - pathology
Osteogenesis - genetics
Radiography
Restriction Mapping
Rodents
Skeletal system
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Summary:The vertebrate skeleton is formed primarily by endochondral ossification, starting during embryogenesis when cartilage anlagens develop central regions of hypertrophic cartilage which are replaced by bony trabeculae and bone marrow. During this process chondrocytes express a unique matrix molecule, type X collagen. We report here that mice carrying a mutated collagen X transgene develop skeletal deformities including compression of hypertrophic growth plate cartilage and a decrease in newly formed bone, as well as leukocyte deficiency in bone marrow, reduction in size of thymus and spleen, and lymphopenia. The defects indicate that collagen X is required for normal skeletal morphogenesis and suggest that mutations in COL10A1 are responsible for certain human chondrodysplasias, such as spondylometaphyseal dysplasias and metaphyseal chondrodysplasias.
ISSN:0028-0836
1476-4687
DOI:10.1038/365056a0