Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
| Autor: | Bernhard Horsthemke, William A. Horton, Michael J. Wagner, Steffi Lindow, Jung Ahn, Dan E. Wells, H.-J. Lüdecke, Brendan Lee |
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| Rok vydání: | 1995 |
| Předmět: |
Male
Langer-Giedion Syndrome Tumor suppressor gene Genetic Linkage Hereditary multiple exostoses DNA Mutational Analysis Molecular Sequence Data Restriction Mapping Biology Polymerase Chain Reaction Frameshift mutation Langer–Giedion syndrome Gene mapping Genetics medicine Humans Coding region Genes Tumor Suppressor Amino Acid Sequence Cloning Molecular Promoter Regions Genetic Gene In Situ Hybridization Fluorescence DNA Primers Gene Library Base Sequence Chromosome Mapping Cosmids medicine.disease Molecular biology Pedigree Protein Biosynthesis Chromosomal region Female Exostoses Multiple Hereditary Chromosomes Human Pair 8 |
| Zdroj: | Nature Genetics. 11:137-143 |
| ISSN: | 1546-1718 1061-4036 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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