Latent Regulatory Potential of Human-Specific Repetitive Elements

Michelle C. Ward, Michael D. Wilson, Nuno L. Barbosa-Morais, Dominic Schmidt, Rory Stark, Qun Pan, Petra C. Schwalie, Suraj Menon, Margus Lukk, Stephen Watt, David Thybert, Claudia Kutter, Kristina Kirschner, Paul Flicek, Benjamin J. Blencowe, Duncan T. Odom

Research output: Contribution to journalArticlepeer-review

46 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)262-272
Number of pages11
JournalMolecular cell
Issue number2
StatePublished - Jan 24 2013
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology


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