Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: Tandem linkage with the minor histocompatibility antigen HA-1 gene

Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: Tandem linkage with the minor histocompatibility antigen HA-1 gene
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DOI:
10.1006/bbrc.2000.3880
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发表时间:
2000-11-30
影响因子:
3.1
通讯作者:
Schmitz, G
Schmitz, G
中科院分区:
生物学4区
文献类型:
--
作者:
Kaminski, WE;Piehler, A;Schmitz, G

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我们最近克隆了一种新的胆固醇反应性ABC转运蛋白,命名为ABCA7,它主要在人类白细胞中表达。在这里,我们报道了人类ABCA7基因的结构。ABCA7基因横跨一个大约32 kb的区域,由46个外显子组成。其假定的启动子序列包含在造血和胆固醇代谢中起作用的转录因子的潜在结合位点。令人惊讶的是,对ABCA7 3‘基因侧翼区的序列分析显示,ABCA7的末端外显子紧邻最近鉴定的人类次要组织相容性抗原HA-1编码区的5’端。我们证明ABCA7和HA-1的编码区被一个1.7 kb的基因间区物理分开。随后的基因组结构分析表明,HA-1基因由23个外显子组成,这些外显子延伸到一个16kb的基因组区域。我们的结果提供了证据,证明人类次要组织相容性抗原HA-1和ABC转运蛋白ABCA7的基因是头尾排列的,并且这两个基因都定位于染色体19p13.3上一个相似的48kb大小的共同位点。(C) 2000年学术出版社。
We have recently cloned a novel cholesterol-responsive ABC transporter, designated ABCA7, which is predominantly expressed in human leukocytes. Here we report the structure of the human ABCA7 gene. The ABCA7 gene spans a region of similar to 32 kb and comprises 46 exons. Its putative promoter sequence contains potential binding sites for transcription factors with roles in hematopoiesis and cholesterol metabolism. Surprisingly, sequence analysis of the ABCA7 3' gene flanking region revealed that the terminal exon of ABCA7 borders immediately on the 5' end of the coding region of the recently identified human minor histocompatibility antigen HA-1. We demonstrate that the coding regions of ABCA7 and HA-1 are physically separated by a 1.7-kb intergene region. Subsequent genomic structure analysis showed that the HA-1 gene consists of 23 exons which extend across a 16-kb genomic region. Our results provide evidence that the genes for the human minor histocompatibility antigen HA-1 and the ABC transporter ABCA7 are arranged in a head-to-tail array and that both genes localize to a common locus of similar to 48 kb size on chromosome 19p13.3. (C) 2000 Academic Press.