1. Figure 5 Reported contributions by BMP pathway to skeletal biology
Figure 5 | Reported contributions by BMP pathway to skeletal biology. Summary of skeletal phenotypes observed in experimental mouse models where genes encoding components of the bone morphogenetic protein (BMP) superfamily pathway have been disrupted using global or conditional gene targeting. Models include nulls, conditional knockouts or gene replacements of endogenous loci, but not transgenics. Osteoblast defects include problems with developmental ossification, postnatal skeletal overgrowth at nonskeletal sites, periosteal growth, altered amount of bone mass and an abnormal quality of bone matrix including brittleness, spontaneous fractures, disrupted fracture repair, scoliosis and kyphosis. Cell non-autonomous effects on osteoclasts are not included. Chondrocyte defects consist of chondrodysplasia, dwarfism, longitudinal growth defects (including the short bone phenotype component of brachypodism), impaired or accelerated chondrogenesis and defects in vascularization of the cartilage template. Joint defects encompass failure to form synovial or nonsynovial joints during development, problems generating mature joint structures such as the meniscus or tendons and/or ligaments and osteoarthritis. Patterning defects include failed outgrowth of the limb bud, vertebral transformation, craniofacial malformation, bone deformities (size), altered number of digits, and lateral fusions of perichondrium in zeugopod. Dark blue squares represent positive for model; turquoise squares represent negative for model. A comprehensive and cited catalogue of these and additional mouse models can be found in Supplementary information S1,S2,S3,S4,S5 (tables), human disease associations in Table 1.
Gamer, L. W. & Rosen, V. et al. (2016) BMP signalling in skeletal development, disease and repair
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