Exonic splicing enhancers and exonic splicing silencers
AssigneeThe Regents of the University of California
InventorsJeremy Sanford, Timothy Steme-Weiler
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Abstract
Compounds and methods for regulation of exonic splicing enhancers and exonic splicing silencers. Compounds include polynucleotides targeted to aberrant exonic splicing enhancers and exonic splicing silencers. Compounds and methods for the diagnosis of diseases and conditions associated with aberrant exonic splicing enhancers and exonic splicing silencers. Methods for identifying splicing-sensitive disease mutations, and functional RNA elements as targets for amelioration of aberrant pre-mRNA splicing.
Claims39
A compound comprising a polynucleotide, wherein the polynucleotide comprises a sequence selected from the group consisting of SEQ ID NO:1-25.
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A method for diagnosing a disease or condition related to aberrant splicing of a disease-related gene, the method comprising:
- a) providing a cell comprising the disease-related gene,
- b) providing a compound that binds specifically to the disease-related gene having an aberrant ESS hexamer, and
- c) detecting specific binding of the compound to the gene.
A method for reducing aberrant exon splice suppression, the method comprising:
- a) providing a cell comprising an ESS hexamer having a sequence selected from the group consisting of ACUAGG, CUUAGG, AUUAGG, UAGGUA, and GUAGUU;
- b) providing a compound that interacts with the ESS hexamer;
- and
- c) contacting the ESS hexamer with the compound.
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A method for reducing aberrant pre-mRNA splicing, the method comprising:
- a) providing a cell comprising a cis-acting element comprising a sequence selected from the group consisting of ACUAGG, CUUAGG, AUUAGG, UAGGUA, and GUAGUU;
- b) providing a compound that interacts with the cis-acting element;
- and
- c) contacting, or directly competing for contact with, the cis-acting element with the compound.
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Dependencies are inferred from the claim text.