Scientific background: |
DDR2(Discoidin domain receptor family, member 2) also known as NTRKR3 or TKT,is a human gene.Ddr2 protein was detected in most mouse tissues examined. Highest levels of phosphorylated Ddr2 were detected in lung, ovary, and skin, which did not correlate with Ddr2 protein levels.The DDR2 gene is mapped 1q23.3. Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment.Using in situ hybridization with 1-week-old mice, Labrador et al. (2001) found that Ddr2 was expressed along chondrocyte columns in the proliferative region of the growth plate.Ddr2mRNA was also present, although dispersed, at areas of calcified cartilage in the cartilage-bone junction, as well as in the trabecular bone surface. Bargal et al. (2009) also identified a splice site mutation in the DDR2 gene, which resulted in the skipping of exon 17, in one of the Jewish families with SMED-SL originally reported by Borochowitz et al. (1993). |
References: |
1. Bargal, R., Cormier-Daire, V., Ben-Neriah, Z., Le Merrer, M., Sosna, J., Melki, J., Zangen, D. H., Smithson, S. F., Borochowitz, Z., Belostotsky, R., Raas-Rothschild, A.Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am. J. Hum. Genet. 84: 80-84, 2009.
2. Borochowitz, Z., Langer, L. O., Jr., Gruber, H. E., Lachman, R., Katznelson, M. B.-M., Rimoin, D. L.Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. Am. J. Med. Genet. 45: 320-326, 1993
3. Labrador, J. P., Azcoitia, V., Tuckermann, J., Lin, C., Olaso, E., Manes, S., Bruckner, K., Goergen, J.-L., Lemke, G., Yancopoulos, G., Angel, P., Martinez-A, C., Klein, R.The collagen receptor DDR2 regulates proliferation and its elimination leads to dwarfism. EMBO J. 2: 446-452, 2001.
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