A segmental genomic duplication generates a functional intron

Nat Commun. 2011 Aug 30:2:454. doi: 10.1038/ncomms1461.

Abstract

An intron is an extended genomic feature whose function requires multiple constrained positions-donor and acceptor splice sites, a branch point, a polypyrimidine tract and suitable splicing enhancers-that may be distributed over hundreds or thousands of nucleotides. New introns are therefore unlikely to emerge by incremental accumulation of functional sub-elements. Here we demonstrate that a functional intron can be created de novo in a single step by a segmental genomic duplication. This experiment recapitulates in vivo the birth of an intron that arose in the ancestral jawed vertebrate lineage nearly half-a-billion years ago.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Cell Line
  • Humans
  • Introns*
  • Molecular Sequence Data
  • RNA Splice Sites
  • RNA Splicing
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics*
  • Segmental Duplications, Genomic*
  • Vertebrates / genetics*

Substances

  • RNA Splice Sites
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases