FISH Protocol for Myotonic Dystrophy Type 1 Cells

  • Arnaud F. Klein
  • Ludovic Arandel
  • Joelle Marie
  • Denis FurlingEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 2056)


Mutant DMPK transcripts containing expanded CUG repeats (CUGexp) are retained within the nucleus of myotonic dystrophy type 1 (DM1) cells as discrete foci. Nuclear CUGexp-RNA foci that sequester MBNL1 splicing factor represent a hallmark of this RNA dominant disease caused by the expression of expanded microsatellite repeats. Here we described fluorescent in situ hybridization (FISH) techniques to detect either RNA containing CUG expansion or DMPK transcripts in human DM1 or WT cells. In addition, we propose a combined FISH/immunofluorescence protocol to visualize the colocalization of MBNL1 with CUGexp-RNA foci in DM1 cells.


Myotonic dystrophy Nuclear RNA foci CUG expansion DMPK transcripts MBNL1 Fluorescent in situ hybridization Immunofluorescence 



This research was supported by Sorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS), and the Association Institut de Myologie (AIM).


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2020

Authors and Affiliations

  • Arnaud F. Klein
    • 1
    • 2
    • 3
  • Ludovic Arandel
    • 1
    • 2
    • 3
  • Joelle Marie
    • 1
    • 2
    • 3
  • Denis Furling
    • 1
    • 2
    • 3
    Email author
  1. 1.Centre de Recherche en Myologie, Sorbonne UniveristéParisFrance
  2. 2.Centre de Recherche en Myologie, InsermParisFrance
  3. 3.Association Institut de MyologieParisFrance

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