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Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Author

Listed:
  • Mariko Taniguchi-Ikeda

    (Kobe University Graduate School of Medicine
    Kobe University Graduate School of Medicine)

  • Kazuhiro Kobayashi

    (Kobe University Graduate School of Medicine)

  • Motoi Kanagawa

    (Kobe University Graduate School of Medicine)

  • Chih-chieh Yu

    (Kobe University Graduate School of Medicine)

  • Kouhei Mori

    (Kobe University Graduate School of Medicine)

  • Tetsuya Oda

    (Kobe University Graduate School of Medicine)

  • Atsushi Kuga

    (Kobe University Graduate School of Medicine)

  • Hiroki Kurahashi

    (Institute for Comprehensive Medical Science, Fujita Health University)

  • Hasan O. Akman

    (Columbia University Medical Center)

  • Salvatore DiMauro

    (Columbia University Medical Center)

  • Ryuji Kaji

    (The University of Tokushima Graduate School)

  • Toshifumi Yokota

    (Faculty of Medicine and Dentistry, University of Alberta)

  • Shin’ichi Takeda

    (National Institute of Neuroscience, National Center of Neurology and Psychiatry)

  • Tatsushi Toda

    (Kobe University Graduate School of Medicine)

Abstract

Talking antisense: fukutin rescue in muscular dystrophy Fukuyama muscular dystrophy is caused by the insertion of a mobile genetic element, the SVA retrotransposon, into the non-coding region of the fukutin gene. Tatsushi Toda and colleagues show that this insertion truncates the fukutin transcript as a result of an abnormal splicing event, a situation known as pathogenic exon trapping. Fukutin function is restored by treatment of dystrophy mouse model cells or human patient cells with antisense oligonucleotides that prevent the abnormal splicing. The results have implications for other diseases that show SVA exon trapping.

Suggested Citation

  • Mariko Taniguchi-Ikeda & Kazuhiro Kobayashi & Motoi Kanagawa & Chih-chieh Yu & Kouhei Mori & Tetsuya Oda & Atsushi Kuga & Hiroki Kurahashi & Hasan O. Akman & Salvatore DiMauro & Ryuji Kaji & Toshifumi, 2011. "Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy," Nature, Nature, vol. 478(7367), pages 127-131, October.
    • Handle: RePEc:nat:nature:v:478:y:2011:i:7367:d:10.1038_nature10456
    DOI: 10.1038/nature10456
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