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Intron presence-absence polymorphism in Drosophila driven by positive Darwinian selection
Journal article   Open access   Peer reviewed

Intron presence-absence polymorphism in Drosophila driven by positive Darwinian selection

Ana Llopart, Josep M Comeron, Frédéric G Brunet, Daniel Lachaise and Manyuan Long
Proceedings of the National Academy of Sciences - PNAS, Vol.99(12), pp.8121-8126
06/11/2002
DOI: 10.1073/pnas.122570299
PMCID: PMC123031
PMID: 12060758
url
https://doi.org/10.1073/pnas.122570299View
Published (Version of record) Open Access

Abstract

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.
Gene Duplication Exons Introns Selection, Genetic Molecular Sequence Data Polymorphism, Genetic Biological Evolution DNA - genetics DNA - isolation & purification DNA - chemistry Animals Base Sequence Computer Simulation Models, Genetic Drosophila - genetics

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