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.
Lin
X
X
Department of Biology and Biochemistry, University of Houston, Texas 77204, USA.
Gan
L
L
Klein
W H
WH
Wells
D
D
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