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AG-dependent 3′-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon

In pre-mRNA splicing, a conserved AG/G at the 3′-splice site is recognized by U2AF(35). A disease-causing mutation abrogating the G nucleotide at the first position of an exon (E(+1)) causes exon skipping in GH1, FECH and EYA1, but not in LPL or HEXA. Knockdown of U2AF(35) enhanced exon skipping in...

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Detalles Bibliográficos
Autores principales: Fu, Yuan, Masuda, Akio, Ito, Mikako, Shinmi, Jun, Ohno, Kinji
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
RNA
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105431/
https://www.ncbi.nlm.nih.gov/pubmed/21288883
http://dx.doi.org/10.1093/nar/gkr026