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Somatic retrotransposition alters the genetic landscape of the human brain

Author

Listed:
  • J. Kenneth Baillie

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

  • Mark W. Barnett

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

  • Kyle R. Upton

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

  • Daniel J. Gerhardt

    (Roche NimbleGen, Inc., 500 South Rosa Road, Madison, Wisconsin 53719, USA)

  • Todd A. Richmond

    (Roche NimbleGen, Inc., 500 South Rosa Road, Madison, Wisconsin 53719, USA)

  • Fioravante De Sapio

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

  • Paul M. Brennan

    (Edinburgh Cancer Research Centre, Western General Hospital, Crewe Road South, Edinburgh EH4 2XR, UK)

  • Patrizia Rizzu

    (Section of Medical Genomics, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands)

  • Sarah Smith

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

  • Mark Fell

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

  • Richard T. Talbot

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

  • Stefano Gustincich

    (Sector of Neurobiology, International School for Advanced Studies (SISSA), via Bonomea 265, 34136 Trieste, Italy)

  • Thomas C. Freeman

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

  • John S. Mattick

    (Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland 4072, Australia)

  • David A. Hume

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

  • Peter Heutink

    (Section of Medical Genomics, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands)

  • Piero Carninci

    (RIKEN Yokohama Institute, Omics Science Center, 1-7-22 Suehiro-chô, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan)

  • Jeffrey A. Jeddeloh

    (Roche NimbleGen, Inc., 500 South Rosa Road, Madison, Wisconsin 53719, USA)

  • Geoffrey J. Faulkner

    (The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK)

Abstract

Reshaping the brain's genetic circuits Mobilization of retrotransposons, genetic elements able to move around in the genome where they can become incorporated and start to amplify themselves, is normally suppressed in somatic cells. However, recent reports indicate that L1 retrotransposons can be mobilized in the human brain; this has important consequences for intercellular variation. Using a high-throughput approach, Baillie et al. identify numerous germ-line mutations and putative somatic insertions in the human hippocampus and caudate nucleus, including those of Alu elements. The implication is that retrotransposition-driven somatic mosaicism may reshape the genetic circuitry that underpins normal and abnormal neurobiological processes.

Suggested Citation

  • J. Kenneth Baillie & Mark W. Barnett & Kyle R. Upton & Daniel J. Gerhardt & Todd A. Richmond & Fioravante De Sapio & Paul M. Brennan & Patrizia Rizzu & Sarah Smith & Mark Fell & Richard T. Talbot & St, 2011. "Somatic retrotransposition alters the genetic landscape of the human brain," Nature, Nature, vol. 479(7374), pages 534-537, November.
    • Handle: RePEc:nat:nature:v:479:y:2011:i:7374:d:10.1038_nature10531
    DOI: 10.1038/nature10531
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    Cited by:

    1. Bert I. Crawford & Mary Jo Talley & Joshua Russman & James Riddle & Sabrina Torres & Troy Williams & Michelle S. Longworth, 2024. "Condensin-mediated restriction of retrotransposable elements facilitates brain development in Drosophila melanogaster," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
    2. Chen Sun & Kunal Kathuria & Sarah B. Emery & ByungJun Kim & Ian E. Burbulis & Joo Heon Shin & Daniel R. Weinberger & John V. Moran & Jeffrey M. Kidd & Ryan E. Mills & Michael J. McConnell, 2024. "Mapping recurrent mosaic copy number variation in human neurons," Nature Communications, Nature, vol. 15(1), pages 1-13, December.

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