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Putting some spine into alternative splicing.

Bernard Khoo·Scott A Akker·Shern L Chew
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Abstract

Spinal muscular atrophy is a neurodegenerative disease caused by mutations of the SMN1 gene. The homologous SMN2 gene is unable to complement SMN1 because of a crucial mutation in an exonic splicing enhancer, leading to alternative splicing and exclusion of exon 7. Two recent papers show that the defect in splicing of exon 7 of SMN2 is specifically corrected by small synthetic effectors. These new and specific approaches have potential in the treatment of diseases caused by defective splicing.

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Alternative SplicingAnimalsBase SequenceCyclic AMP Response Element-Binding ProteinDNA PrimersEnhancer Elements, GeneticExonsGenetic Diseases, InbornGenetic TherapyHeLa CellsHumansIn Vitro TechniquesMuscular Atrophy, SpinalNerve Tissue ProteinsPoint MutationRNA-Binding ProteinsSMN Complex ProteinsSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinTranscriptional ActivationCommentJournal ArticleResearch Support, Non-U.S. Gov't

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Bernard Khoo, Scott A Akker, Shern L Chew. 2003. Putting some spine into alternative splicing.. https://doi.org/10.1016/s0167-7799(03)00168-9

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