Latent regulatory potential of human-specific repetitive elements

Mol Cell. 2013 Jan 24;49(2):262-72. doi: 10.1016/j.molcel.2012.11.013. Epub 2012 Dec 13.


At least half of the human genome is derived from repetitive elements, which are often lineage specific and silenced by a variety of genetic and epigenetic mechanisms. Using a transchromosomic mouse strain that transmits an almost complete single copy of human chromosome 21 via the female germline, we show that a heterologous regulatory environment can transcriptionally activate transposon-derived human regulatory regions. In the mouse nucleus, hundreds of locations on human chromosome 21 newly associate with activating histone modifications in both somatic and germline tissues, and influence the gene expression of nearby transcripts. These regions are enriched with primate and human lineage-specific transposable elements, and their activation corresponds to changes in DNA methylation at CpG dinucleotides. This study reveals the latent regulatory potential of the repetitive human genome and illustrates the species specificity of mechanisms that control it.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosomes, Human, Pair 21 / genetics*
  • Chromosomes, Human, Pair 21 / metabolism
  • DNA Methylation
  • DNA Transposable Elements*
  • Female
  • Gene Silencing*
  • Histones / metabolism
  • Humans
  • Kidney / metabolism
  • Liver / metabolism
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Organ Specificity
  • Protein Binding
  • Species Specificity
  • Testis / metabolism
  • Transcription Factors / metabolism
  • Transcription Initiation, Genetic
  • Transcriptional Activation*


  • DNA Transposable Elements
  • Histones
  • Transcription Factors

Associated data

  • GEO/GSE31454