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Article

In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

22 Jul 2004

Abstract excerpt

Humans have two near identical copies of the survival of motor neuron (SMN) gene, SMN1 and SMN2. In spinal muscular atrophy (SMA), SMN2 is not able to compensate for the loss of SMN1 due to an inhibitory mutation at position 6 (C6U mutation in transcript) of exon 7. We have recently shown that C6U creates an extended inhibitory context (Exinct) that causes skipping of exon 7 in SMN2. Previous studies have shown...

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PMID: 15272122
DOI: 10.1261/rna.7580704

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In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genesPMID 15272122Read ↗

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy.Semantic proximity Read ↗

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The Regulation and Regulatory Activities of Alternative Splicing of the SMN GeneSemantic proximity Read ↗

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An intronic element contributes to splicing repression in spinal muscular atrophy.Semantic proximity Read ↗

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.Semantic proximity Read ↗

Splicing of a Critical Exon of Human <i>Survival Motor Neuron</i> Is Regulated by a Unique Silencer Element Located in the Last IntronSemantic proximity Read ↗

Development of a Single Vector System that Enhances Trans-Splicing of SMN2 TranscriptsSemantic proximity Read ↗

A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes.Semantic proximity Read ↗

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition modelSemantic proximity Read ↗

An Intronic Splicing Enhancer Element in Survival Motor Neuron (SMN) Pre-mRNASemantic proximity Read ↗

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