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The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

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Listed:
  • J. Martone

    (Sapienza University of Rome)

  • F. Briganti

    (Sapienza University of Rome)

  • I. Legnini

    (Sapienza University of Rome)

  • M. Morlando

    (Sapienza University of Rome)

  • E. Picillo

    (Cardiomyology and Medical Genetics, Second University of Napoli)

  • O. Sthandier

    (Sapienza University of Rome)

  • L. Politano

    (Cardiomyology and Medical Genetics, Second University of Napoli)

  • I. Bozzoni

    (Sapienza University of Rome
    Center for Life Nano Science@Sapienza, Istituto Italiano di Tecnologia
    Institute Pasteur Fondazione Cenci-Bolognetti, Sapienza University of Rome)

Abstract

Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced. We identified a DMD case (GSΔ44) where the correlation between genotype and phenotype is not respected, even if carrying a typical Duchenne mutation (exon 44 deletion) a Becker-like phenotype was observed. Here we report that in this patient, partial restoration of an in-frame transcript occurs by natural skipping of exon 45 and that this is due to the lack of Celf2a, a splicing factor that interacts with exon 45 in the dystrophin pre-mRNA. Several experiments are presented that demonstrate the central role of Celf2a in controlling exon 45 splicing; our data point to this factor as a potential target for the improvement of those DMD therapeutic treatments, which requires exon 45 skipping.

Suggested Citation

  • J. Martone & F. Briganti & I. Legnini & M. Morlando & E. Picillo & O. Sthandier & L. Politano & I. Bozzoni, 2016. "The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype," Nature Communications, Nature, vol. 7(1), pages 1-8, April.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms10488
    DOI: 10.1038/ncomms10488
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