title: Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).
abstract: Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA which spans chromosomal breakpoints previously identified in two multiple exostoses patients. Furthermore, the gene harbours frameshift mutations in affected members of two EXT1 families. The cDNA has a coding region of 2,238 bp with no apparent homology to other known gene sequences and thus its function remains elusive. However, recent studies in sporadic and exostosis-derived chondrosarcomas suggest that the 8q24.1-encoded EXT1 gene may have tumour suppressor function.
authors.affiliation: Department of Biology, University of Houston, Texas 77204-5513, USA.
authors.forename: J
authors.initials: J
authors.lastname: Ahn
authors.forename: H J
authors.initials: HJ
authors.lastname: Lüdecke
authors.forename: S
authors.initials: S
authors.lastname: Lindow
authors.forename: W A
authors.initials: WA
authors.lastname: Horton
authors.forename: B
authors.initials: B
authors.lastname: Lee
authors.forename: M J
authors.initials: MJ
authors.lastname: Wagner
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
authors.forename: D E
authors.initials: DE
authors.lastname: Wells
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D003001:Cloning, Molecular; D003360:Cosmids; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D015723:Gene Library; D016147:Genes, Tumor Suppressor; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015826:Langer-Giedion Syndrome / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D014176:Protein Biosynthesis; D015183:Restriction Mapping
chemical_list: D017931:DNA Primers