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Introns in Gene Evolution

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Abstract

Introns are integral elements of eukaryotic genomes that perform various important functions and actively participate in gene evolution. We review six distinct roles of spliceosomal introns: (1) sources of non-coding RNA; (2) carriers of transcription regulatory elements; (3) actors in alternative and trans-splicing; (4) enhancers of meiotic crossing over within coding sequences; (5) substrates for exon shuffling; and (6) signals for mRNA export from the nucleus and nonsense-mediated decay. We consider transposable capacities of introns and the current state of the long-lasting debate on the ‘early-or-late’ origin of introns. Cumulative data on known types of contemporary exon shuffling and the estimation of the size of the underlying exon universe are also discussed. We argue that the processes central to introns-early (exon shuffling) and introns-late (intron insertion) theories are entirely compatible. Each has provided insight: the latter through elucidating the transposon capabilities of introns, and the former through understanding the importance of introns in genomic recombination leading to gene rearrangements and evolution.

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  1. Vision Research Laboratories, New England Medical Center, Tufts University School of Medicine, Boston, MA, 02111, USA

    Larisa Fedorova

  2. Department of Molecular and Cellular Biology, Harvard University, 16 Divinity Ave., Cambridge, MA, 02138, USA

    Alexei Fedorov

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  1. Larisa Fedorova
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  2. Alexei Fedorov
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Correspondence to Alexei Fedorov.

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Fedorova, L., Fedorov, A. Introns in Gene Evolution. Genetica 118, 123–131 (2003). https://doi.org/10.1023/A:1024145407467

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