title: Genomic organization and promoter structure of the human EXT1 gene.
abstract: Hereditary predisposition to multiple exostoses is a genetically heterogeneous disease. Recently, we have reported the identification of the EXT1 gene on human chromosome 8. We have now isolated a cDNA clone from a human adult lung cDNA library and have determined the genomic organization and promoter structure of the EXT1 gene. The gene is composed of 11 exons, ranging from 90 to 1735 bp, and spans approximately 350 kb of genomic DNA. Sequence analysis of the promoter region revealed the presence of a CpG island containing GC and CAAT boxes, but no TATA box. Such a promoter is characteristic for housekeeping genes. This finding is in good agreement with the ubiquitous expression of the EXT1 gene.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum, Essen, Germany. b.horsthemke@uni-essen.de
authors.forename: H J
authors.initials: HJ
authors.lastname: Lüdecke
authors.forename: J
authors.initials: J
authors.lastname: Ahn
authors.forename: X
authors.initials: X
authors.lastname: Lin
authors.forename: A
authors.initials: A
authors.lastname: Hill
authors.forename: M J
authors.initials: MJ
authors.lastname: Wagner
authors.forename: L
authors.initials: L
authors.lastname: Schomburg
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
authors.forename: D E
authors.initials: DE
authors.lastname: Wells
mesh_terms: D000328:Adult; D001482:Base Composition; D001483:Base Sequence; D018899:CpG Islands / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005796:Genes / Q000235:genetics*; D006801:Humans; D008168:Lung; D008969:Molecular Sequence Data; D017351:N-Acetylglucosaminyltransferases; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D000099058:Exostosin 1
chemical_list: D018076:DNA, Complementary; D011506:Proteins; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1