Genome-wide analysis of polymerase III-transcribed Alu elements suggests cell-type-specific enhancer function

Genome Res. 2019 Sep;29(9):1402-1414. doi: 10.1101/gr.249789.119. Epub 2019 Aug 14.


Alu elements are one of the most successful families of transposons in the human genome. A portion of Alu elements is transcribed by RNA Pol III, whereas the remaining ones are part of Pol II transcripts. Because Alu 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 Alu 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 Alu elements are transcriptionally repressed, the older, expressed Alu elements may be exapted by the human host to function as cell-type-specific enhancers for their nearby protein-coding genes.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Alu Elements*
  • Computational Biology / methods
  • Enhancer Elements, Genetic
  • Evolution, Molecular
  • Gene Expression Regulation
  • Histones / genetics
  • Humans
  • Molecular Sequence Annotation
  • RNA Polymerase III / metabolism
  • Sequence Analysis, RNA / methods*
  • Transcription Initiation Site
  • Whole Genome Sequencing / methods*


  • Histones
  • RNA Polymerase III