An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy

Here, we report a long-distance interaction (LDI) as a critical regulator of alternative splicing of Survival Motor Neuron 2 (SMN2) exon 7, skipping of which is linked to spinal muscular atrophy (SMA), a leading genetic disease of children and infants. We show that this LDI is linked to a unique int...

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Détails bibliographiques
Auteurs principaux: Singh, Natalia N., Lawler, Mariah N., Ottesen, Eric W., Upreti, Daya, Kaczynski, Jennifer R., Singh, Ravindra N.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2013
Sujets:
Gene Regulation, Chromatin and Epigenetics
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3783185/
https://ncbi.nlm.nih.gov/pubmed/23861442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkt609
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