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: J Ahn, H J Lüdecke, S Lindow, W A Horton, B Lee, M J Wagner, B Horsthemke, D E Wells
• Journal: Nature genetics (Nat Genet) Vol. 11 Issue 2 Pg. 137-43 (Oct 1995) ISSN: 1061-4036 [Print] United States
• PMID: 7550340 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA Primers

Topics

• Amino Acid Sequence
• Base Sequence
• Chromosome Mapping
• Chromosomes, Human, Pair 8
• Cloning, Molecular
• Cosmids
• DNA Mutational Analysis
• DNA Primers
• Exostoses, Multiple Hereditary (genetics)
• Female
• Gene Library
• Genes, Tumor Suppressor
• Genetic Linkage
• Humans
• In Situ Hybridization, Fluorescence
• Langer-Giedion Syndrome (genetics)
• Male
• Molecular Sequence Data
• Pedigree
• Polymerase Chain Reaction
• Promoter Regions, Genetic
• Protein Biosynthesis
• Restriction Mapping