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

J. Martone, F. Briganti, I. Legnini, M. Morlando, E. Picillo, O. Sthandier, L. Politano and I. Bozzoni ()
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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

Nature Communications, 2016, vol. 7, issue 1, 1-8

Abstract: 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.

Date: 2016
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DOI: 10.1038/ncomms10488

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