Hot L1s account for the bulk of retrotransposition in the human population
Hot L1s account for the bulk of retrotransposition in the human population
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DOI：
10.1073/pnas.0831042100
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发表时间：
2003-04-29
影响因子：
11.1
通讯作者：
Kazazian, HH
中科院分区：
文献类型：
--
作者：
Brouha, B;Schustak, J;Kazazian, HH
虽然LINE-1（长散布核苷酸元件-1，L1）反转录转座子占人类基因组的17%，但对2001年12月“冻结”的单倍体人类基因组工作草图序列（95%完整）的详尽搜索仅产生90个具有完整ORF的L1。我们证明，38 86（44%）L1的多态性，以他们在人群中的存在。我们克隆了90个L1中的82个（91%），并发现82个中的40个（49%）在培养细胞逆转录转座试验中具有活性。根据这些数据，我们预测，平均每个人体内有80-100个具有反转录转座能力的L1。值得注意的是，84%的测定逆转录转座能力存在于六个高活性L1（热L1）。相比之下，最近人类插入的五个全长L1中有四个具有与人类基因组工作草图序列中的六个热L1相当的反转录转座活性。因此，我们的数据表明，大多数L1逆转录转座在人类人口源于热L1，其余的元素在基因组可塑性中发挥较小的作用。
Although LINE-1 (long interspersed nucleotide element-1, L1) retro-transposons comprise 17% of the human genome, an exhaustive search of the December 2001 "freeze" of the haploid human genome working draft sequence (95% complete) yielded only 90 L1s with intact ORFs. We demonstrate that 38 of 86 (44%) L1s are polymorphic as to their presence in human populations. We cloned 82 (91%) of the 90 L1s and found that 40 of the 82 (49%) are active in a cultured cell retrotransposition assay. From these data, we predict that there are 80-100 retrotransposition-competent L1s in an average human being. Remarkably, 84% of assayed retrotransposition capability was present in six highly active L1s (hot L1s). By comparison, four of five full-length L1s involved in recent human insertions had retrotransposition activity comparable to the six hot L1s in the human genome working draft sequence. Thus, our data indicate that most L1 retrotransposition in the human population stems from hot L1s, with the remaining elements playing a lesser role in genome plasticity.