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

Humans have two nearly identical copies of the survival motor neuron (SMN ) gene, SMN1 and SMN2. Homozygous loss of SMN1 causes spinal muscular atrophy (SMA). SMN2 is unable to prevent the disease due to skipping of exon 7. Using a systematic approach of in vivo selection, we have previously demonst...

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Veröffentlicht in:	Nucleic acids research 2007-01, Vol.35 (2), p.371-389
Hauptverfasser:	Singh, Natalia N, Singh, Ravindra N, Androphy, Elliot J
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing Base Sequence Cell Line, Tumor Cyclic AMP Response Element-Binding Protein - genetics Exons Humans Molecular Sequence Data Mutagenesis, Site-Directed Nerve Tissue Proteins - genetics Nucleic Acid Conformation Regulatory Sequences, Ribonucleic Acid Ribonucleases Ribonucleoprotein, U1 Small Nuclear - metabolism RNA - chemistry RNA Splice Sites RNA Stability RNA-Binding Proteins - genetics SMN Complex Proteins Structural Biology Survival of Motor Neuron 1 Protein Survival of Motor Neuron 2 Protein
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