Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity

Nat Genet. 2004 Dec;36(12):1255-7. doi: 10.1038/ng1469. Epub 2004 Oct 31.


Splice acceptors with the genomic NAGNAG motif may cause NAG insertion-deletions in transcripts, occur in 30% of human genes and are functional in at least 5% of human genes. We found five significant biases indicating that their distribution is nonrandom and that they are evolutionarily conserved and tissue-specific. Because of their subtle effects on mRNA and protein structures, these splice acceptors are often overlooked or underestimated, but they may have a great impact on biology and disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing / genetics*
  • Animals
  • Base Sequence / genetics*
  • Databases, Nucleic Acid
  • Genetic Variation*
  • Genomics
  • Humans
  • Mutation / genetics
  • Proteome / genetics*
  • RNA Splice Sites / genetics*


  • Proteome
  • RNA Splice Sites