Ruffner D E, Sprung C N, Minghetti P P, Gibbs P E, Dugaiczyk A
Department of Biochemistry, University of California, Riverside 92521.
Mol Biol Evol. 1987 Jan;4(1):1-9. doi: 10.1093/oxfordjournals.molbev.a040420.
The human albumin-alpha-fetoprotein genomic domain contains 13 repetitive DNA elements randomly distributed throughout the symmetrical structures of these genes. These repeated sequences are located at different sites within the two genes. The human albumin gene contains five Alu elements within four of its 14 intervening sequences. Two of these repeats are located in intron 2, and the remaining three are located in introns 7, 8, and 11. The human alpha-fetoprotein gene contains three of these Alu elements, one in intron 4 and the remaining two in the 3'-untranslated region. In addition, the human alpha-fetoprotein gene contains a Kpn repeat and two classes of novel repeats that are absent from the human albumin gene. Six of the Alu elements within the two genes are bound by short direct repeats that harbor five base substitutions in 120 possible positions (60 bp times 2 termini). The absence of Alu repeats from analogous positions in rodents indicates that these repeats invaded the albumin-alpha-fetoprotein domain less than 85 Myr ago (the time of mammalian radiation). Furthermore, considering the conservation of terminal repeats flanking the Alu sequences of the albumin-alpha-fetoprotein domain (0.042 changes per site), we submit that the average time of Alu insertion into this gene family could have been as recently as 15-30 Myr ago.
人白蛋白 - 甲胎蛋白基因组区域包含13个重复DNA元件,它们随机分布在这些基因的对称结构中。这些重复序列位于两个基因内的不同位点。人白蛋白基因在其14个间隔序列中的4个内含有5个Alu元件。其中两个重复序列位于内含子2中,其余三个位于内含子7、8和11中。人甲胎蛋白基因含有3个这样的Alu元件,一个在内含子4中,其余两个在3'非翻译区。此外,人甲胎蛋白基因含有一个Kpn重复序列和两类人白蛋白基因中不存在的新型重复序列。两个基因内的6个Alu元件被短的直接重复序列所结合,这些直接重复序列在120个可能位置(60 bp×2个末端)中含有5个碱基替换。啮齿动物类似位置不存在Alu重复序列,这表明这些重复序列在不到8500万年前(哺乳动物辐射的时间)侵入了白蛋白 - 甲胎蛋白区域。此外,考虑到白蛋白 - 甲胎蛋白区域Alu序列侧翼末端重复序列的保守性(每个位点0.042个变化),我们认为Alu插入这个基因家族的平均时间可能近至1500 - 3000万年前。