title: A segmental genomic duplication generates a functional intron.
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.
authors: DOE Joint Genome Institute, Walnut Creek, California 94598, USA. UHellsten@lbl.gov
authors: Uffe
authors: U
authors: Hellsten
authors: Julie L
authors: JL
authors: Aspden
authors: Donald C
authors: DC
authors: Rio
authors: Daniel S
authors: DS
authors: Rokhsar
mesh_terms: D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D022821:RNA Splice Sites; D012326:RNA Splicing; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*; D056916:Segmental Duplications, Genomic; D014714:Vertebrates / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases