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An alternative dystrophin transcript specific to peripheral nerve

Nature Genetics volume 4, pages 77–81 (1993)Cite this article

Abstract

Transcription of the 2.5 megabase dystrophin gene gives rise to multiple isoforms. We describe a 5.2 kilobase transcript, expressed specifically in peripheral nerve, that initiates at a previously unrecognized exon located ∼850 basepairs upstream of dystrophin exon 56. The likely product of this transcript (Dp116) is detected by C–terminal dystrophin antibodies exclusively in peripheral nerve and cultured Schwann cells. Dp116 is located along the Schwann cell membrane but is not present in the compact myelin lamellae or in axons. Dp116 lacks actin–binding and spectrin–like rod domains, arguing that it functions differently in the Schwann cell than does the major dystrophin transcript in muscle.

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Author notes

  1. Timothy J. Byers

    Present address: Department of Physiology and Biophysics, Indiana University school of medicine, Indianapolis, Indiana, 46202, USA

Authors and Affiliations

  1. Howard Hughes Medical Institute, Children's Hospital Medical Center and Harvard Medical School, Boston, Massachusetts, 02115, USA

    Timothy J. Byers & Louis M. Kunkel

  2. Departments of Pathology and Neurology, Children's Hospital Medical Center and Harvard Medical School, Boston, Massachusetts, 02115, USA

    Hart G. W. Lidov

Authors
  1. Timothy J. Byers
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  2. Hart G. W. Lidov
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  3. Louis M. Kunkel
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Byers, T., Lidov, H. & Kunkel, L. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet 4, 77–81 (1993). https://doi.org/10.1038/ng0593-77

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