protein
| fibronectin, FN1 (Glant et al, 1985) |
|
decorin, DCN (Fleischmajer et al, 1991) |
|
annexin A5, ANXA5 (Kirsch et al, 1992) |
|
RGD-containing collagen-associated protein, RGD-CAP (Hashimoto et al, 1997) |
|
Cartilage oligomeric matrix protein, COMP (Rosenberg et al, 1998) |
|
TGF-beta1 and BMP-2 (Zhu et al, 1999) |
|
Cartilage matrix protein, CMP (Makihira et al, 1999) |
|
chondroadherin, CHAD (Mansson et al, 2001) |
|
collagen IX, COL9A1 (Fertala et al, 2001) |
|
proline arginine-rich end leucine-rich repeat protein, PRELP (Bengtsson et al, 2002) |
|
keratinocyte growth factor, KGF (Ruehl et al, 2002) |
|
SCX and TCF3 might modulate the primary chondrogenesis by associating with the SOX9-related transcriptional complex, and by binding to the conserved E-box on COL2A1 promoter |
|
MYOCD suppresses SOX9-mediated chondrogenic gene COL2A1 expression |
| mice expressing the minigene COL2A1 partially deleted developed a phenotype of a chondrodysplasia with dwarfism, short and thick limbs, a short snout, a cranial bulge, a cleft palate, and delayed mineralization of bone (Vandenberg et al, 1991) | |
transgenic mice with an inactivated Col2a1 exhibit highly disorganized chondrocytes with a complete lack of extracellular fibrils ans they have no endochondrial bone or epiphyseal growth plate in long bones (Li et al, 1995) |
|
mouse harbouring Arg789Cys mutation has very short limbs, short trunk, short snout, and cleft palate, growth plates are disorganized, collagen fibrils are sparse in cartilage matrix and it die at birth (Gaiser et al, 2002) |
|
mutation in the mouse Col2a1 gene leads to spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis (Donahue et al, 2003) |
|
ENU mouse model with a Ser1386Pro mutation of the Col2a1 C-propeptide domain resulting in abnormal collagen processing and phenotypic features consistent with SEDC and secondary osteoarthritis |