Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution
Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution
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DOI：
10.1038/ng775
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发表时间：
2001-12-01
期刊：
影响因子：
30.8
通讯作者：
Coffin, JM
中科院分区：
文献类型：
--
作者：
Hughes, JF;Coffin, JM
人类内源性逆转录病毒（HERV）是我们祖先生殖细胞过去逆转录病毒感染的残留物（1），占人类基因组的8%，甚至可能超过基因（2，3）。大多数HERV似乎在1000万至5000万年前进入基因组，它们包括200多个不同的组和亚组（1，4）。尽管重复序列元件如HERV具有通过远距离基因座之间的同源重组导致染色体重排的潜力，但缺乏该过程的普遍性的证据。为了深入了解灵长类动物进化过程中基因组中这些元件的扩展，我们已经确定了HERV-K（HML-2）组的23个新成员，这些成员被认为包含最近活跃的成员。在这里，我们表明，通过系统发育和序列分析，至少有16%的这些元素经历了明显的重排，可能导致大规模的缺失，复制和染色体改组在人类基因组的进化过程中。
Human endogenous retroviruses (HERVs), which are remnants of past retroviral infections of the germline cells of our ancestors(1), make up as much as 8% of the human genome and may even outnumber genes(2,3). Most HERVs seem to have entered the genome between 10 and 50 million years ago, and they comprise over 200 distinct groups and subgroups(1,4). Although repeated sequence elements such as HERVs have the potential to lead to chromosomal rearrangement through homologous recombination between distant loci, evidence for the generality of this process is lacking. To gain insight into the expansion of these elements in the genome during the course of primate evolution, we have identified 23 new members of the HERV-K (HML-2) group, which is thought to contain the most recently active members. Here we show, by phylogenetic and sequence analysis, that at least 16% of these elements have undergone apparent rearrangements that may have resulted in large-scale deletions, duplications and chromosome reshuffling during the evolution of the human genome.