Program in Bioinformatics and Integrative Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.
Functional Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
Genome Res. 2019 Sep;29(9):1402-1414. doi: 10.1101/gr.249789.119. Epub 2019 Aug 14.
elements are one of the most successful families of transposons in the human genome. A portion of elements is transcribed by RNA Pol III, whereas the remaining ones are part of Pol II transcripts. Because elements are highly repetitive, it has been difficult to identify the Pol III-transcribed elements and quantify their expression levels. In this study, we generated high-resolution, long-genomic-span RAMPAGE data in 155 biosamples all with matching RNA-seq data and built an atlas of 17,249 Pol III-transcribed elements. We further performed an integrative analysis on the ChIP-seq data of 10 histone marks and hundreds of transcription factors, whole-genome bisulfite sequencing data, ChIA-PET data, and functional data in several biosamples, and our results revealed that although the human-specific elements are transcriptionally repressed, the older, expressed elements may be exapted by the human host to function as cell-type-specific enhancers for their nearby protein-coding genes.
元素是人类基因组中转座子最成功的家族之一。一部分 元素由 RNA Pol III 转录,而其余部分则是 Pol II 转录本的一部分。由于 元素高度重复,因此很难确定 Pol III 转录的元素并量化它们的表达水平。在这项研究中,我们在 155 个具有匹配 RNA-seq 数据的生物样本中生成了高分辨率、长基因组跨度的 RAMPAGE 数据,并构建了 17249 个 Pol III 转录的 元素图谱。我们进一步对 10 个组蛋白标记和数百个转录因子的 ChIP-seq 数据、全基因组亚硫酸氢盐测序数据、ChIA-PET 数据以及几个生物样本中的功能数据进行了综合分析,我们的结果表明,尽管人类特异性 元素在转录上受到抑制,但较旧的、表达的 元素可能被人类宿主适应,作为其附近蛋白质编码基因的细胞类型特异性增强子发挥作用。