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Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.

Authors: Delezoide, AL  Lasselin-Benoist, C  Legeai-Mallet, L  Brice, P  Senee, V  Yayon, A  Munnich, A  Vekemans, M  Bonaventure, J 
Citation: Delezoide AL, etal., Hum Mol Genet. 1997 Oct;6(11):1899-906.
Pubmed: (View Article at PubMed) PMID:9302269

Thanatophoric dysplasia (TD), the commonest lethal skeletal dysplasia in humans, is accounted for by recurrent mutations in the fibroblast growth factor receptor 3 gene (FGFR 3), causing its constitutive activation in vitro. Taking advantage of medical abortion of 18 TD fetuses, cartilage sections were studied for FGFR 3 gene expression by in situ hybridization and immunohistochemistry. Specific antibodies revealed high amounts of FGFR 3 in cartilage of TD fetuses with no increased level of the corresponding mRNA. The specific signal was mainly detected in the nucleus of proliferative and hypertrophic chondrocytes. Based on this observation and the abnormal expression of collagen type X in hypertrophic TD chondrocytes, we suggest that constitutive activation of the receptor through formation of a stable dimer increases its stability and promotes its translocation into the nucleus, where it might interfere with terminal chondrocyte differentiation.

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RGD Object Information
RGD ID: 11568030
Created: 2016-12-06
Species: All species
Last Modified: 2016-12-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.