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PNAS | June 11, 2002 | vol. 99 | no. 12 | 8121-8126
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Evolution
 Intron presence-absence polymorphism in Drosophila driven by positive Darwinian selection

Ana Llopart*, Josep M. Comeron*,dagger , Frédéric G. Brunet*, Daniel LachaiseDagger , and Manyuan Long*,§

* Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637; and Dagger  Laboratoire Populations, Génétique et Evolution, Centre National de la Recherche Scientifique, 91198 Gif-sur-Yvette, France

Edited by Margaret G. Kidwell, University of Arizona, Tucson, AZ, and approved April 24, 2002 (received for review October 25, 2001)

Comparisons of intron-exon structures between homologous genes in different eukaryotic species have revealed substantial variation in the number of introns. These observations imply that, in each case, an intron presence-absence polymorphism must have existed in the past. Such a polymorphism, created by a recent intron-loss mutation, is reported here in a eukaryotic organism. This gene structure, detected in the jingwei (jgw) gene, segregates at high frequency (77%) in natural populations of Drosophila teissieri and is associated with a marked change in mRNA levels. Furthermore, the intron loss does not result from a mRNA-mediated mechanism as is usually proposed, but from a partial deletion at the DNA level that also results in the addition of four new amino acids to the JGW protein. Population genetic analyses of the pattern of nucleotide variation surrounding the intron polymorphism indicate the action of positive Darwinian selection on the intron-absent variant. Forward simulations suggest that the intensity of this selection is weak to moderate, roughly equal to the selection intensity on most replacement mutations in Drosophila.

dagger Present address: Department of Biological Sciences, University of Iowa, 433 Biology Building, Iowa City, IA 52242.

§ To whom reprint requests should be addressed. E-mail: mlong{at}midway.uchicago.edu.

www.pnas.org/cgi/doi/10.1073/pnas.122570299
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