遗传 ›› 2006, Vol. 28 ›› Issue (8): 1015-1022.

• 专论与综述 • 上一篇    下一篇

脊椎动物ABCA基因亚家族研究进展

李光,王义权   

  1. 厦门大学生命科学学院,厦门 361005

  • 收稿日期:2005-09-21 修回日期:2005-12-25 出版日期:2006-08-10 发布日期:2006-08-10
  • 通讯作者: 王义权

Progress in the Research on the ABCA Gene Family of Vertebrates

LI Guang, WANG Yi-Quan

  

  1. School of Life Sciences, Xiamen University, Xiamen 361005, China

  • Received:2005-09-21 Revised:2005-12-25 Online:2006-08-10 Published:2006-08-10
  • Contact: WANG Yi-Quan

摘要: ABC(ATP-binding cassette)基因家族编码膜蛋白,其成员负责多种物质的跨膜运输。基于氨基酸序列的同源性,人的48个ABC成员被分为7个亚家族:ABCA~ABCG。与其他亚家族相比,ABCA基因编码的蛋白具有独特的拓扑结构,并且其家族成员在两栖动物和哺乳动物分化之后各发生过一次大的扩展(expanding)。基因结构分析发现这两次扩展均是通过基因倍增实现的,这些倍增的产物在啮齿目和食肉目中得到保留,而在灵长目中却有一半变成假基因或被删除。ABCA成员主要负责不同组织器官脂类和胆固醇的跨膜运输,部分成员的突变与疾病相关。

关键词: 基因倍增, ABCA亚家族, 进化, 基因功能

Abstract: The ATP-binding cassette (ABC) superfamily of genes encodes membrane proteins that transport many kinds of substrates across membranes. Based on amino acid sequence similarities and phylogeny, 48 ABC genes in the human genome were divided into seven subfamilies: ABCA-ABCG. Among those subfamilies, ABCA transporters have a unique topology and members of it had expanded twice by gene duplication after the divergences between amphibian and mammal respectively. The new duplicated genes are well retained in rodent and carnivore while half of them have become pseudogenes or been lost in primate genome. Transporters of the ABCA subclass serve critical physiological functions in the transmembrane transport of endogenous lipid and cholesterol substrates and mutations of some of them cause human genetic diseases.

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