A segmental genomic duplication generates a functional intron

Uffe Hellsten (), Julie L. Aspden, Donald C. Rio and Daniel S. Rokhsar
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Uffe Hellsten: DOE Joint Genome Institute, Walnut Creek, California 94598, USA.
Julie L. Aspden: Center for Integrative Genomics, University of California Berkeley, California 94707, USA.
Donald C. Rio: Center for Integrative Genomics, University of California Berkeley, California 94707, USA.
Daniel S. Rokhsar: DOE Joint Genome Institute, Walnut Creek, California 94598, USA.

Nature Communications, 2011, vol. 2, issue 1, 1-6

Abstract: 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.

Date: 2011
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DOI: 10.1038/ncomms1461

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