Structure, Chromosomal Location, and Expression Profile of EXTR1 and EXTR2, New Members of the Multiple Exostoses Gene Family

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder that is characterized by the appearance of multiple outgrowths of the long bones (exostoses) at their epiphyses. Genetical heterogeneities have segregated at least on chromosome 8, 11, and 19 and been designated EXT1, EXT2, and EX...

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Published in:Biochemical and biophysical research communications 1998-02, Vol.243 (1), p.61-66
Main Authors: Saito, Toshiyuki, Seki, Naohiko, Yamauchi, Masatake, Tsuji, Satsuki, Hayashi, Akiko, Kozuma, Sumie, Hori, Tada-aki
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Base Sequence
Chromosome Mapping
Cloning, Molecular
DNA Primers - genetics
DNA, Complementary - genetics
Exostoses, Multiple Hereditary - genetics
Gene Expression
Genes, Tumor Suppressor
Humans
Hybrid Cells
Membrane Proteins
Molecular Sequence Data
Multigene Family
N-Acetylglucosaminyltransferases
Polymerase Chain Reaction
Proteins - chemistry
Proteins - genetics
RNA, Messenger - genetics
RNA, Messenger - metabolism
Sequence Homology, Amino Acid
Tissue Distribution
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Summary:Hereditary multiple exostoses (EXT) is an autosomal dominant disorder that is characterized by the appearance of multiple outgrowths of the long bones (exostoses) at their epiphyses. Genetical heterogeneities have segregated at least on chromosome 8, 11, and 19 and been designated EXT1, EXT2, and EXT3, respectively. Recently, the responsible genes for EXT1 and EXT2 have been isolated and appeared to define a structurally related gene family. In the present study, we have identified novel genes which share significant sequence homologies with the EXT genes. The predicted protein products of the novel EXT-related genes, EXTR1 and EXTR2 (forEXT-related genes 1 and 2), consist of 919 and 330 amino acid residues, respectively. These genes were transcribed ubiquitously in various tissues. Based on PCR-assisted analyses of both a human/rodent mono-chromosomal hybrid cell panel and a radiation hybrid mapping panel, EXTR1 was localized to the chromosome 8p21 region, where loss of heterozygosity has been frequently observed in various tumors, and EXTR2 was assigned to the chromosome 1p21 region, where osteopetrosis, a dominant hereditary disease of bone, has been mapped by genetic linkage analysis, implying that the protein products of these two EXT-related genes, as well as of the EXT genes, have potential tumor suppressor activity.
ISSN:0006-291X
1090-2104
DOI:10.1006/bbrc.1997.8062