人糖基化磷脂酰肌醇特异性磷脂酶D的基因结构初探

Preliminary study of the gene structure of human glycosylphospha tidylinositol specific phospholipase D

探讨人糖基化磷脂酰肌醇特异性磷脂酶D (GPI PLD)的cDNA及其基因组基因的结构。从人骨髓基质细胞克隆出的GPI PLDcDNA中发现 ,它能编码信号肽 ,其编码的酶蛋白成熟肽为 817个氨基酸残基。该GPI PLDcDNA与从人肝组织和胰腺组织克隆到的GPI PLDcDNA的碱基序列的同源性分别为 95 %和 99%。人GPI PLD基因组基因定位于 6p2 2 .1～ 2 2 .3区域 ,包含 2 5个外显子 ,其上游调控区具有启动子 (TATA盒与CAAT盒 )、增强子核心序列 (TGGAAG)及同源转换盒Pit 1/GHF 1结合序列 (TATGCATAA)等顺式作用元件。

To explore the cDNA and its genomic gene structure of human glycosylphosphatidylinositol specific phospholipase D (GPI PLD), the stromal cells from human bone marrow were cultured, and the GPI PLD cDNA was successfully cloned from stromal cells (GenBank Accession AY007546). After analyzing this cDNA, we found that it codes the signal peptide as well as the mature peptide (817 AA) of GPI PLD. Compared with the cDNA cloned from human pancreas and liver, the homology of the cDNA is 99% and 95% respectively. After searching GenBank, we aligned the genomic gene of the GPI PLD by DNATools software, and found that the GPI PLD genomic gene was located in the human 6p22.1 22.3 and contained 25 exons, TATA box, CAAT box, enhancer and the sequence binding homo domain of Pit 1/GHF 1.