The structure and organization of the human erythroid anion exchanger (AE1) gene.
The structure and organization of the human erythroid anion exchanger (AE1) gene.
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DOI：
10.1006/geno.1994.1658
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发表时间：
1994-12
期刊：
影响因子：
4.4
通讯作者：
K. Sahr;W. Taylor;B. Daniels;Hillard L. Rubin;P. Jarolím
中科院分区：
文献类型：
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作者：
K. Sahr;W. Taylor;B. Daniels;Hillard L. Rubin;P. Jarolím
AE1（阴离子交换剂，带3）蛋白在红细胞和肾远端集合小管的a型插层细胞中表达。在这两种细胞类型中，它都介导氯离子和碳酸氢盐离子通过脂质双分子层的电中性运输，在红细胞中，它还充当外周膜骨架的关键附着位点。我们利用从人类基因组DNA噬菌体文库中分离的重叠克隆对人类AE1基因进行了表征。该基因全长约20kb，由20个外显子组成，外显子之间由19个内含子隔开。人类AE1基因的结构与先前表征的小鼠AE1基因的结构非常接近，具有高度保守的外显子/内含子连接，以及外显子和内含子核苷酸序列。在红系细胞和肾细胞中分别描述了推定的人类AE1基因的上游和内部启动子序列。我们还报道了在已发表的cDNA序列中缺失的整个20外显子3'非编码区的核苷酸序列。此外，我们还在人类AE1基因中发现了9个Alu重复元件，这些元件是4个相关亚家族的成员，似乎在灵长类动物进化的不同时期进入了基因组。
The AE1 (anion exchanger, band 3) protein is expressed in erythrocytes and in the A-type intercalated cells of the kidney distal collecting tubule. In both cell types it mediates the electroneutral transport of chloride and bicarbonate ions across the lipid bilayer, and, in erythrocytes, it also serves as the critical attachment site of the peripheral membrane skeleton. We have characterized the human AE1 gene using overlapping clones isolated from a phage library of human genomic DNA. The gene spans approximately 20 kb and consists of 20 exons separated by 19 introns. The structure of the human AE1 gene corresponds closely with that of the previously characterized mouse AE1 gene, with a high degree of conservation of exon/intron junctions, as well as exon and intron nucleotide sequences. The putative upstream and internal promoter sequences of the human AE1 gene used in erythroid and kidney cells, respectively, are described. We also report the nucleotide sequence of the entire 3' noncoding region of exon 20, which was lacking in the published cDNA sequences. In addition, we have characterized 9 Alu repeat elements found within the body of the human AE1 gene that are members of 4 related subfamilies that appear to have entered the genome at different times during primate evolution.