Mammalian Skeletogenesis and Extracellular Matrix. What can We Learn from Knockout Mice?
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Formation of the vertebrate skeleton and the proper functions of bony and cartilaginous elements are determined by extracellular, cell surface and intracellular molecules. Genetic and biochemical analyses of human heritable skeletal disorders as well as the generation of knockout mice provide useful tools to identify the key players of mammalian skeletogenesis. This review summarises our recent work with transgenic animals carrying ablated genes for cartilage extracellular matrix proteins. Some of these mice exhibit a lethal phenotype associated with severe skeletal defects (type II collagen-null, perlecan-null), whereas others show mild (type IX collagen-null) or no skeletal abnormalities (matrilin-1-null, fibromodulin-null, tenascin-C-null). The appropriate human genetic disorders are discussed and contrasted with the knockout mice phenotypes.
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The organic matrix contains collagenous proteins (90%), predominantly type I collagen, and noncollagenous proteins including osteocalcin, osteonectin, osteopontin, fibronectin, bone sialoprotein II, BMPs, and growth factors.
“The organic matrix contains collagenous proteins (90%), predominantly type I collagen, and noncollagenous proteins including osteocalcin, osteonectin, osteopontin, fibronectin and bone sialoprotein II, bone morphogenetic proteins (BMPs), and growth factors [114].”
From Biology of Bone Tissue: Structure, Function, and Factors That Influence Bone Cells (2015) · cites this paper as [114]
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- Authors
- Aszódi, A., F. Bateman, J., Gustafsson, E., Boot-Handford, R., & Fässler, R.
- Affiliations
- Lund University (SE)
- Department of Paediatrics, University of Melbourne, Victoria 3052, Australia
- Venue
- Cell Structure and Function
- Publisher
- Japan Society for Cell Biology
- Published
- 2000
- Volume
- 25
- Issue
- 2
- Pages
- 73-84
- ISSN
- 0386-7196 (ISSN-L)
- 1347-3700
- OpenAlex
- W2026056871
- Cited by
- 96
- References
- 67
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 1 · 2023: 1 · 2022: 5 · 2021: 6 · 2020: 3 · 2019: 1 · 2018: 4 · 2017: 3 · 2016: 3 · 2015: 4 · 2014: 4 · 2013: 3 · 2012: 1
- FWCI
- 0.46
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Cell Structure and Function (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Rheumatology › Osteoarthritis Treatment and Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
- Keywords
- skeletogenesis, extracellular matrix, knockout mice, type II collagen, perlecan, type IX collagen, matrilin-1, fibromodulin, tenascin-C, bone defects, transgenic mice
- MeSH terms
- Animals, Bone Development, Connective Tissue, Extracellular Matrix, Humans, Mice, Transgenic, Musculoskeletal Abnormalities, Mutation, Phenotype, Extracellular Matrix Proteins, Mice, Knockout, Mice
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