从端粒到端粒：人类重复元件的转录和表观遗传状态

From telomere to telomere: The transcriptional and epigenetic state of human repeat elements

作者：Savannah J. Hoyt, Jessica M. Storer, Gabrielle A. Hartley, Patrick G. S. Grady, et al.

期刊：Science

发表时间：2022/03/31

Mobile elements and repetitive genomic regions are sources of lineage-specific genomic innovation and uniquely fingerprint individual genomes. Comprehensive analyses of such repeat elements, including those found in more complex regions of the genome, require a complete, linear genome assembly. We present a de novo repeat discovery and annotation of the T2T-CHM13 human reference genome. We identified previously unknown satellite arrays, expanded the catalog of variants and families for repeats and mobile elements, characterized classes of complex composite repeats, and located retroelement transduction events. We detected nascent transcription and delineated CpG methylation profiles to define the structure of transcriptionally active retroelements in humans, including those in centromeres. These data expand our insight into the diversity, distribution, and evolution of repetitive regions that have shaped the human genome.

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（导读 阿金）移动元件和重复性基因组区域是谱系特异性基因组创新和个体基因组独特印记的源头。本研究从头重复发现并阐释了T2T-CHM13人类参考基因组，识别出先前未知的卫星阵列，扩大了变体类别以及重复和移动元件家族，并且表征了一系列复杂成分重复体的类别，定位了逆转录传导事件。所有数据扩充了我们对重复区域多样性、分布和演变的认识。