GENOMIC ORGANIZATION AND PROMOTER STRUCTURE OF THE HUMAN EXT1 GENE

Hereditary predisposition to multiple exostoses is a genetically heter ogeneous disease. Recently, we have reported the identification of the EXT1 gene on human chromosome 8. We have now isolated a cDNA clone fr om a human adult lung cDNA library and have determined the genomic org anization and promoter structure of the EXT1 gene. The gene is compose d 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 f inding is in good agreement with the ubiquitous expression of the EXT1 gene. (C) 1997 Academic Press.