Chang D Y, Sasaki-Tozawa N, Green L K, Maraia R J
Laboratory of Molecular Growth Regulation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2753.
Mol Cell Biol. 1995 Apr;15(4):2109-16. doi: 10.1128/MCB.15.4.2109.
Nearly 1 million Alu elements in human DNA were inserted by an RNA-mediated retroposition-amplification process that clearly decelerated about 30 million years ago. Since then, Alu sequences have proliferated at a lower rate, including within the human genome, in which Alu mobility continues to generate genetic variability. Initially derived from 7SL RNA of the signal recognition particle (SRP), Alu became a dominant retroposon while retaining secondary structures found in 7SL RNA. We previously identified a human Alu RNA-binding protein as a homolog of the 14-kDa Alu-specific protein of SRP and have shown that its expression is associated with accumulation of 3'-processed Alu RNA. Here, we show that in early anthropoids, the gene encoding SRP14 Alu RNA-binding protein was duplicated and that SRP14-homologous sequences currently reside on different human chromosomes. In anthropoids, the active SRP14 gene acquired a GCA trinucleotide repeat in its 3'-coding region that produces SRP14 polypeptides with extended C-terminal tails. A C-->G substitution in this region converted the mouse sequence CCA GCA to GCA GCA in prosimians, which presumably predisposed this locus to GCA expansion in anthropoids and provides a model for other triplet expansions. Moreover, the presence of the trinucleotide repeat in SRP14 DNA and the corresponding C-terminal tail in SRP14 are associated with a significant increase in SRP14 polypeptide and Alu RNA-binding activity. These genetic events occurred during the period in which an acceleration in Alu retroposition was followed by a sharp deceleration, suggesting that Alu repeats coevolved with C-terminal variants of SRP14 in higher primates.
人类DNA中近100万个Alu元件是通过RNA介导的逆转座扩增过程插入的,该过程在大约3000万年前明显减速。从那时起,Alu序列以较低的速率增殖,包括在人类基因组中,其中Alu的移动性继续产生遗传变异。Alu最初源自信号识别颗粒(SRP)的7SL RNA,在保留7SL RNA中发现的二级结构的同时,它成为了一种主要的逆转座子。我们之前鉴定出一种人类Alu RNA结合蛋白,它是SRP中14 kDa Alu特异性蛋白的同源物,并表明其表达与3'加工的Alu RNA的积累有关。在这里,我们表明在早期类人猿中,编码SRP14 Alu RNA结合蛋白的基因发生了复制,并且SRP14同源序列目前位于不同的人类染色体上。在类人猿中,活跃的SRP14基因在其3'编码区域获得了一个GCA三核苷酸重复序列,该序列产生具有延长C末端尾巴的SRP14多肽。该区域的C→G替换将小鼠序列CCA GCA转换为原猴中的GCA GCA,这可能使该基因座在类人猿中易于发生GCA扩增,并为其他三联体扩增提供了一个模型。此外,SRP14 DNA中三核苷酸重复序列的存在以及SRP14中相应的C末端尾巴与SRP14多肽和Alu RNA结合活性的显著增加有关。这些遗传事件发生在Alu逆转座加速后急剧减速的时期,表明Alu重复序列与高等灵长类动物中SRP14的C末端变体共同进化。