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Article

An intronic element contributes to splicing repression in spinal muscular atrophy.

Proceedings of the National Academy of Sciences of the United States of America - 27 Feb 2007

Kashima Tsuyoshi, Rao Nishta, Manley James L

Abstract excerpt

The neurodegenerative disease spinal muscular atrophy is caused by mutation of the survival motor neuron 1 (SMN1) gene. SMN2 is a nearly identical copy of SMN1 that is unable to prevent disease, because most SMN2 transcripts lack exon 7 and thus produce a nonfunctional protein. A key cause of inefficient SMN2 exon 7 splicing is a single nucleotide difference between SMN1 and SMN2 within exon 7. We previously...

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Share to Alternative Splicing
Share to Cyclic AMP Response Element-Binding Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Source

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Identifiers

PMID: 17307868
DOI: 10.1073/pnas.0700343104
PMCID: PMC1805620

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

An intronic element contributes to splicing repression in spinal muscular atrophy.PMID 17307868Read ↗

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.Semantic proximity Read ↗

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicingSemantic proximity Read ↗

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

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Semantic proximity Read ↗

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

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genesSemantic 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 ↗

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.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 ↗

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2Semantic proximity Read ↗

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice siteSemantic proximity Read ↗

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

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