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Genomic organization and promoter structure of the human EXT1 gene
- Source :
- Genomics. 40(2)
- Publication Year :
- 1997
-
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.
- Subjects :
- Adult
DNA, Complementary
TATA box
Molecular Sequence Data
Restriction Mapping
Gene mutation
Biology
N-Acetylglucosaminyltransferases
Gene mapping
Genetics
Humans
Promoter Regions, Genetic
Gene
Lung
Genomic organization
Base Composition
Base Sequence
cDNA library
Proteins
Promoter
Exons
Sequence Analysis, DNA
Molecular biology
genomic DNA
Genes
CpG Islands
Exostoses, Multiple Hereditary
Subjects
Details
- ISSN :
- 08887543
- Volume :
- 40
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Genomics
- Accession number :
- edsair.doi.dedup.....f77ca7c372f760e7c59d881f3f3ea946