University of Pennsylvania Department of Genetics, Philadelphia, Pennsylvania 19104, USA.
Genome Res. 2010 Sep;20(9):1262-70. doi: 10.1101/gr.106419.110. Epub 2010 May 20.
Using high-throughput sequencing, we devised a technique to determine the insertion sites of virtually all members of the human-specific L1 retrotransposon family in any human genome. Using diagnostic nucleotides, we were able to locate the approximately 800 L1Hs copies corresponding specifically to the pre-Ta, Ta-0, and Ta-1 L1Hs subfamilies, with over 90% of sequenced reads corresponding to human-specific elements. We find that any two individual genomes differ at an average of 285 sites with respect to L1 insertion presence or absence. In total, we assayed 25 individuals, 15 of which are unrelated, at 1139 sites, including 772 shared with the reference genome and 367 nonreference L1 insertions. We show that L1Hs profiles recapitulate genetic ancestry, and determine the chromosomal distribution of these elements. Using these data, we estimate that the rate of L1 retrotransposition in humans is between 1/95 and 1/270 births, and the number of dimorphic L1 elements in the human population with gene frequencies greater than 0.05 is between 3000 and 10,000.
利用高通量测序,我们设计了一种技术,可用于确定人类特异性 L1 反转录转座子家族的所有成员在任何人类基因组中的插入位点。使用诊断性核苷酸,我们能够定位到大约 800 个特定于 pre-Ta、Ta-0 和 Ta-1 L1Hs 亚家族的 L1Hs 拷贝,超过 90%的测序读数对应于人类特异性元件。我们发现,任何两个个体基因组在 L1 插入存在或不存在方面平均存在 285 个差异位点。总共,我们在 1139 个位点上对 25 个人进行了检测,其中 15 个是无关的,包括与参考基因组共享的 772 个和 367 个非参考 L1 插入。我们表明 L1Hs 图谱再现了遗传祖先,并确定了这些元件的染色体分布。利用这些数据,我们估计人类中 L1 反转座的速率在每 95 到 270 次出生之间,并且在人类群体中具有大于 0.05 的基因频率的二态性 L1 元件数量在 3000 到 10000 之间。
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