Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.
Hum Mol Genet
; 6(11): 1899-906, 1997 Oct.
Article
em En
| MEDLINE
| ID: mdl-9302269
ABSTRACT
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Displasia Tanatofórica
/
Proteínas Tirosina Quinases
/
Cartilagem
/
Receptores de Fatores de Crescimento de Fibroblastos
/
Doenças Fetais
Limite:
Humans
Idioma:
En
Revista:
Hum Mol Genet
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
França