Article
AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon.
Nucleic acids research - 1 May 2011
Fu Yuan, Masuda Akio, Ito Mikako, Shinmi Jun, Ohno Kinji
Abstract excerpt
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 GH1 and FECH. RNA-EMSA revealed that wild-type FECH requires U2AF(35) but wild-type LPL does not. A series of...
Topics
- Binding Sites
- Disease
- Down-Regulation
- Exons
- Genome, Human
- HEK293 Cells
- Humans
- Mutation
- Nuclear Proteins
- Nucleotides
- Pyrimidines
- RNA Precursors
- RNA Splice Sites
- RNA Splicing
- RNA, Messenger
- Ribonucleoproteins
- Splicing Factor U2AF