Genomic organization of the human γ adducin gene
Genomic organization of the human γ adducin gene
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DOI：
10.1006/bbrc.1999.1769
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发表时间：
1999-12-09
影响因子：
3.1
通讯作者：
Bianchi, G
中科院分区：
文献类型：
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作者：
Citterio, L;Azzani, T;Bianchi, G
我们报告的基因组结构的人γ内收蛋白基因（ADD 3）。内收蛋白是一种参与细胞骨架组装的蛋白质，由人和大鼠之间高度同源的α-β或α-β亚基组成。cu亚基的突变已被证明与人类和大鼠的高血压有关。人ADD 3基因跨越20 kb，由至少13个内含子和14个外显子组成，覆盖整个编码区。外显子大小从81 bp到大于293 bp不等，内含子大小从111 bp到大于3.2 kb不等。我们还证明存在一个选择性剪接事件外显子13，其序列，位置和表达是类似的大鼠Add 3基因。此外，人ADD 3氨基酸序列与大鼠序列相比具有91.9%的同一性。人ADD 3基因的特性分析为突变分析提供了重要的工具。(C)北京：科学出版社.
We report the genomic structure of the human gamma adducin gene (ADD3). Adducin is a protein involved in cytoskeletal assembly and composed of alpha-beta or alpha-beta subunits which share a high degree of homology between human and rat. Mutations in cu subunit have been shown associated to both human and rat hypertension. The human ADD3 gene spans over 20 kb and is composed of at least 13 introns and 14 exons covering the entire coding region. The exon size ranges from 81 bp to greater than 293 bp and the intron size from 111 bp to longer than 3.2 kb. We also demonstrate the presence of an alternative splicing event around exon 13, whose sequence, position, and expression is analogous in rat Add3 gene. Moreover, human ADD3 amino acid sequence presents 91.9% of identity compared to rat sequence. Characterization of human ADD3 gene provides an important tool for mutation analysis. (C) 1999 Academic Press.