DeBerardinis R J, Kazazian H H
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
J Mol Evol. 1998 Sep;47(3):292-301. doi: 10.1007/pl00006387.
New copies of the mammalian retrotransposon L1 arise in the germline at an undetermined rate. Each new L1 copy appears at a specific evolutionary time point that can be estimated by phylogenetic analysis. In humans, the active L1 sequence L1.2 resides at the genomic locus LRE1. Here we analyzed the region surrounding the LRE1 locus in humans and gorillas to determine the evolutionary history of the region and to estimate the age of L1.2. We found that the region was composed of an ancient L1, L1Hs-Lrg, which was significantly divergent from all other L1 sequences available in the databases. We also determined that L1.2 was absent from the gorilla genome and arose in humans after the divergence of gorilla and human lineages. In the gorilla LRE1 region, we discovered a different full-length L1 element, L1Gg-1, which was allelic and present at a high gene frequency in gorillas but absent from other primates. We determined the nucleotide sequence of L1Gg-1 and found that it was 98% identical to L1.2, suggesting a close relationship between active L1s in gorillas and humans.
哺乳动物逆转录转座子L1的新拷贝以不确定的速率出现在种系中。每个新的L1拷贝出现在一个特定的进化时间点,这可以通过系统发育分析来估计。在人类中,活跃的L1序列L1.2位于基因组位点LRE1。在这里,我们分析了人类和大猩猩中LRE1位点周围的区域,以确定该区域的进化历史并估计L1.2的年龄。我们发现该区域由一个古老的L1,即L1Hs-Lrg组成,它与数据库中所有其他可用的L1序列有显著差异。我们还确定L1.2在大猩猩基因组中不存在,并且在大猩猩和人类谱系分化后出现在人类中。在大猩猩LRE1区域,我们发现了一个不同的全长L1元件,L1Gg-1,它是等位基因,在大猩猩中以高基因频率存在,但在其他灵长类动物中不存在。我们确定了L1Gg-1的核苷酸序列,发现它与L1.2有98%的同一性,这表明大猩猩和人类中活跃的L1之间存在密切关系。