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Literature DB >> 9119404

Genomic organization and promoter structure of the human EXT1 gene.

H J Lüdecke¹, J Ahn, X Lin, A Hill, M J Wagner, L Schomburg, B Horsthemke, D E Wells.

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.

Entities: Gene Species

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Year: 1997 PMID： 9119404 DOI： 10.1006/geno.1996.4577

Source DB: PubMed Journal: Genomics ISSN： 0888-7543 Impact factor: 5.736

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Cited

18 in total

1. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Authors: C Philippe; D E Porter; M E Emerton; D E Wells; A H Simpson; A P Monaco
Journal: Am J Hum Genet Date: 1997-09 Impact factor: 11.025

2. Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila.

Authors: F Lyko; K Buiting; B Horsthemke; R Paro
Journal: Proc Natl Acad Sci U S A Date: 1998-02-17 Impact factor: 11.205

3. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Authors: W Wuyts; W Van Hul; K De Boulle; J Hendrickx; E Bakker; F Vanhoenacker; F Mollica; H J Lüdecke; B S Sayli; U E Pazzaglia; G Mortier; B Hamel; E U Conrad; M Matsushita; W H Raskind; P J Willems
Journal: Am J Hum Genet Date: 1998-02 Impact factor: 11.025

4. Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle.

Authors: Qin Zhou; Chi Yang; Min-Jie Chen; Ling-Zhi Li
Journal: Mol Clin Oncol Date: 2016-07-08

Review 10. Multiple osteochondromas.

Authors: Judith V M G Bovée
Journal: Orphanet J Rare Dis Date: 2008-02-13 Impact factor: 4.123

Genomic organization and promoter structure of the human EXT1 gene.

1. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

2. Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila.

3. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

4. Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle.

5. Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.

6. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

7. Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.

8. Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses.

9. Identification of a novel frameshift mutation of the EXT2 gene in a family with multiple osteochondroma.

Review 10. Multiple osteochondromas.