Annilo Tarmo, Chen Zhang-Qun, Shulenin Sergey, Costantino Julie, Thomas Lauren, Lou Hong, Stefanov Stefan, Dean Michael
Laboratory of Genomic Diversity, Building 560, Room 21-18, NCI-Frederick, Frederick, MD 21702, USA.
Genomics. 2006 Jul;88(1):1-11. doi: 10.1016/j.ygeno.2006.03.001. Epub 2006 May 2.
Vertebrate evolution has been largely driven by the duplication of genes that allow for the acquisition of new functions. The ATP-binding cassette (ABC) proteins constitute a large and functionally diverse family of membrane transporters. The members of this multigene family are found in all cellular organisms, most often engaged in the translocation of a wide variety of substrates across lipid membranes. Because of the diverse function of these genes, their large size, and the large number of orthologs, ABC genes represent an excellent tool to study gene family evolution. We have identified ABC proteins from the sea squirt (Ciona intestinalis), zebrafish (Danio rerio), and chicken (Gallus gallus) and, using phylogenetic analysis, identified those genes with a one-to-one orthologous relationship to human ABC proteins. All ABC protein subfamilies found in Ciona and zebrafish correspond to the human subfamilies, with the exception of a single ABCH subfamily gene found only in zebrafish. Multiple gene duplication and deletion events were identified in different lineages, indicating an ongoing process of gene evolution. As many ABC genes are involved in human genetic diseases, and important drug transport phenotypes, the understanding of ABC gene evolution is important to the development of animal models and functional studies.
脊椎动物的进化在很大程度上是由基因复制驱动的，基因复制使得新功能得以获得。ATP结合盒（ABC）蛋白构成了一个庞大且功能多样的膜转运蛋白家族。这个多基因家族的成员存在于所有细胞生物中，最常参与多种底物跨脂质膜的转运。由于这些基因功能多样、规模庞大且直系同源基因数量众多，ABC基因是研究基因家族进化的绝佳工具。我们已经从海鞘（玻璃海鞘）、斑马鱼和鸡中鉴定出了ABC蛋白，并通过系统发育分析，确定了那些与人类ABC蛋白具有一对一直系同源关系的基因。在海鞘和斑马鱼中发现的所有ABC蛋白亚家族都与人类亚家族相对应，只有一个仅在斑马鱼中发现的ABCH亚家族基因除外。在不同谱系中鉴定出了多个基因复制和缺失事件，这表明基因进化是一个持续的过程。由于许多ABC基因与人类遗传疾病以及重要的药物转运表型有关，因此了解ABC基因进化对于动物模型的开发和功能研究非常重要。
