Division of Biology, California Institute of Technology, Pasadena, CA 91125, USA.
Proc Natl Acad Sci U S A. 2010 Nov 16;107(46):19945-8. doi: 10.1073/pnas.1014330107. Epub 2010 Nov 1.
Comparison of a full collection of the transposable element (TE) sequences of vertebrates with genome sequences shows that the human genome makes 655 perfect full-length matches. The cause is that the human genome contains many active TEs that have caused TE inserts in relatively recent times. These TE inserts in the human genome are several types of young Alus (AluYa5, AluYb8, AluYc1, etc.). Work in many laboratories has shown that such inserts have many effects including changes in gene expression, increases in recombination, and unequal crossover. The time of these very effective changes in the human lineage genome extends back about 4 million years according to these data and very likely much earlier. Rapid human lineage-specific evolution, including brain size is known to have also occurred in the last few million years. Alu insertions likely underlie rapid human lineage evolution. They are known to have many effects. Examples are listed in which TE sequences have influenced human-specific genes. The proposed model is that the many TE insertions created many potentially effective changes and those selected were responsible for a part of the striking human lineage evolution. The combination of the results of these events that were selected during human lineage evolution was apparently effective in producing a successful and rapidly evolving species.
将脊椎动物的完整转座元件 (TE) 序列集合与基因组序列进行比较表明,人类基因组有 655 个完全匹配的全长匹配。原因是人类基因组包含许多活跃的转座元件,这些转座元件在相对较近的时间内导致了 TE 插入。人类基因组中的这些 TE 插入是几种年轻的 Alu(AluYa5、AluYb8、AluYc1 等)。许多实验室的工作表明,这些插入具有许多影响,包括基因表达的改变、重组的增加和不等交换。根据这些数据,这些非常有效的人类谱系基因组变化发生在大约 400 万年前,而且很可能更早。最近几百万年来,人类谱系的快速进化,包括大脑大小的进化,也是已知的。Alu 插入很可能是人类谱系快速进化的基础。它们具有许多已知的影响。例如,TE 序列影响了人类特异性基因。提出的模型是,许多 TE 插入创造了许多潜在的有效变化,而那些被选择的变化则是人类谱系进化的一部分原因。在人类谱系进化过程中选择的这些事件的组合显然在产生一个成功和快速进化的物种方面是有效的。