Article abstract


Nature Genetics 41, 563 - 571 (2009)
Published online: 19 April 2009 | doi:10.1038/ng.368

The regulated retrotransposon transcriptome of mammalian cells

Geoffrey J Faulkner1, Yasumasa Kimura2, Carsten O Daub2, Shivangi Wani1, Charles Plessy2, Katharine M Irvine3, Kate Schroder3, Nicole Cloonan1, Anita L Steptoe1, Timo Lassmann2, Kazunori Waki2, Nadine Hornig4,5, Takahiro Arakawa2, Hazuki Takahashi2, Jun Kawai2, Alistair R R Forrest2,6, Harukazu Suzuki2, Yoshihide Hayashizaki2, David A Hume7, Valerio Orlando4,5, Sean M Grimmond1 & Piero Carninci2


Although repetitive elements pervade mammalian genomes, their overall contribution to transcriptional activity is poorly defined. Here, as part of the FANTOM4 project, we report that 6–30% of cap-selected mouse and human RNA transcripts initiate within repetitive elements. Analysis of approximately 250,000 retrotransposon-derived transcription start sites shows that the associated transcripts are generally tissue specific, coincide with gene-dense regions and form pronounced clusters when aligned to full-length retrotransposon sequences. Retrotransposons located immediately 5' of protein-coding loci frequently function as alternative promoters and/or express noncoding RNAs. More than a quarter of RefSeqs possess a retrotransposon in their 3' UTR, with strong evidence for the reduced expression of these transcripts relative to retrotransposon-free transcripts. Finally, a genome-wide screen identifies 23,000 candidate regulatory regions derived from retrotransposons, in addition to more than 2,000 examples of bidirectional transcription. We conclude that retrotransposon transcription has a key influence upon the transcriptional output of the mammalian genome.

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  1. Expression Genomics Laboratory, Institute for Molecular Bioscience, University of Queensland, Queensland, Australia.
  2. Omics Science Center, RIKEN Yokohama Institute, Yokohama, Kanagawa, Japan.
  3. Cooperative Research Centre for Chronic Inflammatory Diseases and Special Research Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
  4. Dulbecco Telethon Institute, IRCCS Fondazione Santa Lucia at EBRI, Rome, Italy.
  5. Dulbecco Telethon Institute, IGB CNR, Naples, Italy.
  6. The Eskitis Institute for Cell and Molecular Therapies, Griffith University, Australia.
  7. The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Roslin, Scotland, UK.

Correspondence to: Valerio Orlando4,5 e-mail: vorlando@dti.telethon.it

Correspondence to: Sean M Grimmond1 e-mail: s.grimmond@imb.uq.edu.au

Correspondence to: Piero Carninci2 e-mail: carninci@riken.jp



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