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PNAS | April 30, 2002 | vol. 99 | no. 9 | 6118-6123
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Evolution
 Intron evolution as a population-genetic process

(exon shuffling|genome complexity|genome evolution)

Michael Lynch*

Department of Biology, Indiana University, Bloomington, IN 47405

Edited by Barbara A. Schaal, Washington University, St. Louis, MO, and approved February 7, 2002 (received for review November 7, 2001)

Debate over the mechanisms responsible for the phylogenetic and genomic distribution of introns has proceeded largely without consideration of the population-genetic forces influencing the establishment and retention of novel genetic elements. However, a simple model incorporating random genetic drift and weak mutation pressure against intron-containing alleles yields predictions consistent with a diversity of observations: (i) the rarity of introns in unicellular organisms with large population sizes, and their expansion after the origin of multicellular organisms with reduced population sizes; (ii) the relationship between intron abundance and the stringency of splice-site requirements; (iii) the tendency for introns to be more numerous and longer in regions of low recombination; and (iv) the bias toward phase-0 introns. This study provides a second example of a mechanism whereby genomic complexity originates passively as a "pathological" response to small population size, and raises difficulties for the idea that ancient introns played a major role in the origin of genes by exon shuffling.

* E-mail: mlynch{at}bio.indiana.edu.

www.pnas.org/cgi/doi/10.1073/pnas.092595699
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