Lüdecke H J, Ahn J, Lin X, Hill A, Wagner M J, Schomburg L, Horsthemke B, Wells D E
Institut für Humangenetik, Universitätsklinikum, Essen, Germany.
Genomics. 1997 Mar 1;40(2):351-4. doi: 10.1006/geno.1996.4577.
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.
多发性外生骨疣的遗传易感性是一种基因异质性疾病。最近，我们报道了在人类8号染色体上鉴定出EXT1基因。我们现在已经从一个人类成人肺cDNA文库中分离出一个cDNA克隆，并确定了EXT1基因的基因组结构和启动子结构。该基因由11个外显子组成，长度从90到1735 bp不等，跨越约350 kb的基因组DNA。启动子区域的序列分析显示存在一个含有GC盒和CAAT盒的CpG岛，但没有TATA盒。这种启动子是管家基因的特征。这一发现与EXT1基因的普遍表达非常吻合。
