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编码钠钙交换体的人类基因NCX1的结构

The organization of the human gene NCX1 encoding the sodium-calcium exchanger.

作者信息

Kraev A, Chumakov I, Carafoli E

机构信息

Institute of Biochemistry, Swiss Federal Institute of Technology (ETH), Zürich, Switzerland.

出版信息

Genomics. 1996 Oct 1;37(1):105-12. doi: 10.1006/geno.1996.0526.

DOI:10.1006/geno.1996.0526
PMID:8921376
Abstract

The intron-exon organization of the human Na/Ca-exchanger gene NCX1 and of the N-terminal half of the related gene NCX2 has been determined. The NCX1 gene consists of 12 exons spread over 200 kb on chromosome 2 close to STS D2S2328 and encodes a 6.2-kb transcript. Both NCX1 and NCX2 feature an unusual 1.8-kb exon, containing two-thirds of the protein coding sequence and a similar area of the coding sequences split into several small exons, displaying tissue-specific alternative splicing. The similar intron positions in the "cardiac" (NCX1) and "brain" (NCX2) mammalian exchanger genes suggest their origin from the recent duplication and translocation of a common ancestral gene, a putative precursor of which has been identified in the nematode Caenorhabditis elegans.

摘要

人类钠钙交换蛋白基因NCX1以及相关基因NCX2 N端一半的内含子-外显子结构已被确定。NCX1基因由12个外显子组成,分布在2号染色体上靠近STS D2S2328的200 kb区域,编码一个6.2 kb的转录本。NCX1和NCX2都有一个不寻常的1.8 kb外显子,包含三分之二的蛋白质编码序列,且编码序列的类似区域被分成几个小外显子,呈现出组织特异性可变剪接。哺乳动物“心脏”(NCX1)和“大脑”(NCX2)交换蛋白基因中相似的内含子位置表明它们起源于一个共同祖先基因的近期复制和易位,其一个假定的前体已在秀丽隐杆线虫中被鉴定出来。

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