Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene.
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.
Department of Biology and Biochemistry, University of Houston, Texas 77204, USA.
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D016475:3T3 Cells; D000818:Animals; D005075:Biological Evolution; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D004622:Embryo, Mammalian; D005314:Embryonic and Fetal Development; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D019084:Fluorescent Antibody Technique, Indirect; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D051379:Mice; D008810:Mice, Inbred C57BL; D005810:Multigene Family; D017351:N-Acetylglucosaminyltransferases; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis; D011994:Recombinant Proteins / Q000096:biosynthesis; D014158:Transcription, Genetic; D014162:Transfection; D000099058:Exostosin 1
D011506:Proteins; D012333:RNA, Messenger; D011994:Recombinant Proteins; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1