Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes
pmid: 12606286
Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes
Growth/differentiation factors 5, 6, and 7 (GDF5/6/7) represent a distinct subgroup within the bone morphogenetic protein (BMP) family of secreted signaling molecules. Previous studies have shown that the Gdf5 gene is expressed in transverse stripes across developing skeletal elements and is one of the earliest known markers of joint formation during embryonic development. Although null mutations in this gene disrupt formation of some bones and joints in the skeleton, many sites are unaffected. Here, we show that the closely related family members Gdf6 and Gdf7 are expressed in different subsets of developing joints. Inactivation of the Gdf6 gene causes defects in joint, ligament, and cartilage formation at sites distinct from those seen in Gdf5 mutants, including the wrist and ankle, the middle ear, and the coronal suture between bones in the skull. Mice lacking both Gdf5 and Gdf6 show additional defects, including severe reduction or loss of some skeletal elements in the limb, additional fusions between skeletal structures, scoliosis, and altered cartilage in the intervertebral joints of the spinal column. These results show that members of the GDF5/6/7 subgroup are required for normal formation of bones and joints in the limbs, skull, and axial skeleton. The diverse effects on joint development and the different types of joints affected in the mutants suggest that members of the GDF family play a key role in establishing boundaries between many different skeletal elements during normal development. Some of the skeletal defects seen in single or double mutant mice resemble defects seen in human skeletal diseases, which suggests that these genes may be candidates that underlie some forms of carpal/tarsal coalition, conductive deafness, scoliosis, and craniosynostosis.
- Stanford University United States
- Stanford University School of Medicine United States
Base Sequence, Mouse mutation, Cell Biology, Growth Differentiation Factor 6, Bone and Bones, Mice, Mutant Strains, Bone morphogenetic protein, Growth/differentiation factors, Skeletal patterning, Mice, Growth Differentiation Factor 5, Craniosynostosis, Bone Morphogenetic Proteins, Mutation, Animals, Joints, DNA Probes, Molecular Biology, Limb development, In Situ Hybridization, Developmental Biology, Body Patterning
Base Sequence, Mouse mutation, Cell Biology, Growth Differentiation Factor 6, Bone and Bones, Mice, Mutant Strains, Bone morphogenetic protein, Growth/differentiation factors, Skeletal patterning, Mice, Growth Differentiation Factor 5, Craniosynostosis, Bone Morphogenetic Proteins, Mutation, Animals, Joints, DNA Probes, Molecular Biology, Limb development, In Situ Hybridization, Developmental Biology, Body Patterning
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