Price Alkes L, Eskin Eleazar, Pevzner Pavel A
Department of Computer Science and Engineering, University of California-San Diego, La Jolla, California 92093-0114, USA.
Genome Res. 2004 Nov;14(11):2245-52. doi: 10.1101/gr.2693004.
Alu repeats are the most abundant family of repeats in the human genome, with over 1 million copies comprising 10% of the genome. They have been implicated in human genetic disease and in the enrichment of gene-rich segmental duplications in the human genome, and they form a rich fossil record of primate and human history. Alu repeat elements are believed to have arisen from the replication of a small number of source elements, whose evolution over time gives rise to the 31 Alu subfamilies currently reported in Repbase Update. We apply a novel method to identify and statistically validate 213 Alu subfamilies. We build an evolutionary tree of these subfamilies and conclude that the history of Alu evolution is more complex than previous studies had indicated.
Alu重复序列是人类基因组中最丰富的重复序列家族，有超过100万个拷贝，占基因组的10%。它们与人类遗传疾病以及人类基因组中富含基因的节段性重复的富集有关，并且它们构成了灵长类和人类历史丰富的化石记录。Alu重复元件被认为起源于少数源元件的复制，随着时间的推移，这些源元件的进化产生了目前在Repbase Update中报道的31个Alu亚家族。我们应用一种新方法来识别并统计验证213个Alu亚家族。我们构建了这些亚家族的进化树，并得出结论：Alu进化的历史比以前的研究所表明的更为复杂。
