Aug 15, 1998

Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene

Biochemical and Biophysical Research Communications
X LinD Wells


Hereditary multiple exostoses (EXT) is a genetically heterogeneous, autosomal dominant skeletal disorder. The gene for EXT1 maps to human chromosome 8q24.1 and encodes an evolutionary conserved protein that is a member of a multigene family. The mouse homolog of human EXT1 protein is 99% similar to its human counterpart. Here, we present the expression profiles of the mouse EXT1 gene. EXT1 mRNA is initially expressed at 6.5 days post-coitum (d.p.c.), which coincides with gastrulation of the mouse embryo. Whole mount in situ hybridization with 10.5 to 12.5 d.p.c. mouse embryos showed a high level of expression of EXT1 mRNA in developing limb buds. Epitope tagging experiments revealed the endoplasmic reticulum localization of EXT1 protein. This localization was consistent with a hydrophobic stretch of amino acids present at the N-terminal end of the EXT1 protein. These results provide novel information on the function of EXT1 and the etiology of hereditary multiple exostoses.

Mentioned in this Paper

Establishment and Maintenance of Localization
Multigene Family
Entire Embryo
Hereditary Multiple Exostoses
Cataract, Autosomal Dominant
Amino Acids, I.V. solution additive
Genes, Reiterated

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