Analysis of hABC1 gene 5' end: additional peptide sequence, promoter region, and four polymorphisms.
Analysis of hABC1 gene 5' end: additional peptide sequence, promoter region, and four polymorphisms.
复制标题
hABC1基因5端分析：附加肽序列、启动子区域和四种多态性。
DOI：
10.1006/bbrc.2000.2652
复制
发表时间：
2000
期刊：
影响因子：
--
通讯作者：
Kane,JP
中科院分区：
文献类型：
--
作者：
Pullinger,CR;Hakamata,H;Duchateau,PN;Eng,C;Aouizerat,BE;Cho,MH;Fielding,CJ;Kane,JP
将atp结合盒转运基因1 （ABC1）突变与丹吉尔病联系起来的证据表明，它在游离胆固醇主动转运出细胞中起作用。由于其mRNA水平受细胞胆固醇储存的调控，因此探索其启动子反应元件，并研究其多态性对促进过早冠心病的人群中低水平HDL流行的贡献是有意义的。利用5′RACE分析对该基因的5′端进行了研究，发现了455个核苷酸，并预测了另外60个氨基酸n端残基，从而得到了一个2261个残基的蛋白。蛋白质序列分析预测一个跨膜区域和可能的信号肽。人类研究项目BLAST搜索找到了5 '侧翼区域。该区域包含潜在控制ABC1基因表达的调控元件。除了众多SP1结合位点外，还有四种假定的甾醇调节元件（SREs）。我们的研究发现了三个单核苷酸替代多态性，一个在启动子区，两个在5 ‘非翻译区（5 ’ utr），加上一个插入/删除多态性。
Evidence linking mutations in ATP-binding-cassette transporter gene 1 (ABC1) to Tangier disease suggests it functions in the active transport of free cholesterol out of cells. Since its mRNA level is regulated in response to cellular cholesterol stores it is of interest to explore its promoter response elements, and to investigate polymorphisms for their contributions to the prevalence of low levels of HDL in the population that promotes premature coronary heart disease. Investigation of the 5′ end of the gene by 5′ RACE analysis revealed 455 nucleotides additional to published sequences, and predicts another 60 amino acid N-terminal residues, resulting in a 2261-residue protein. Protein sequence analysis predicts a membrane-spanning region and possible signal peptide. The 5′ flanking region was located by a Human Research Project BLAST search. This region contains regulatory elements that potentially control ABC1 gene expression. In addition to numerous SP1 binding sites there are four putative sterol regulatory elements (SREs). Our studies uncovered three single nucleotide substitution polymorphisms, one in the promoter region and two in the 5′ untranslated region (5′UTR), plus an insertion/deletion polymorphism.