Three ATP-binding cassette transporter genes, Abca14, Abca15, and Abca16, form a cluster on mouse Chromosome 7F3
Three ATP-binding cassette transporter genes, Abca14, Abca15, and Abca16, form a cluster on mouse Chromosome 7F3
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DOI：
10.1007/s00335-004-2281-8
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发表时间：
2004-05-01
期刊：
影响因子：
2.5
通讯作者：
Dean, M
中科院分区：
文献类型：
--
作者：
Chen, ZQ;Annilo, T;Dean, M
我们已经确定并克隆了三个小鼠基因，属于ABCA亚家族的ATP结合盒（ABC）转运。这三个基因在小鼠染色体（Chr）7 F3上排列在跨越约300 kb的串联头-尾簇中。系统发育分析表明，虽然这三个基因与人类和小鼠ABCA 3相关，但它们不是目前48个人类ABC基因中任何一个的直系同源物，因此被命名为Abca 14，Abca 15和Abca 16。每个基因的编码区分为31个外显子，具有超过1600个氨基酸的开放阅读框架，并且编码具有两个核苷酸结合折叠（NBF）和两个跨膜结构域（TMD）的完整转运蛋白分子。这三个基因主要在睾丸中表达，这表明它们可能在睾丸发育或精子发生中发挥特殊功能。有趣的是，人类基因组在染色体16 p12上的同线区域中仅包含至少两个不同ABC基因的片段（少于10个外显子），这些片段分散在其他不相关的基因中，并且不能编码功能性ABC转运蛋白。
We have identified and cloned three mouse genes that belong to the ABCA subfamily of ATP-binding cassette (ABC) transporters. These three genes are arranged in a tandem head-to-tail cluster spanning about 300 kb on mouse Chromosome (Chr) 7F3. Phylogenetic analysis indicates that although the three genes are related to human and mouse ABCA3, they are not orthologs of any of the current list of 48 human ABC genes and were, therefore, named Abca14, Abca15, and Abca16. The coding region of each gene is split into 31 exons, has an open reading frame of more than 1600 amino acids, and encodes a full transporter molecule with two nucleotide-binding folds (NBF) and two transmembrane domains (TMD). All three genes are predominantly expressed in testis, which suggests that they may perform special functions in testicular development or spermatogenesis. Interestingly, the human genome contains only fragments (less than ten exons) of at least two different ABC genes in the syntenic region on Chromosome 16p12 that are scattered among other, unrelated genes and are not capable of coding functional ABC transporters.