Uma pesquisa de sequência genômica interessante: íntrons funcionalmente importantes

Genome Biology and Evolution Advance Access originally published online on November 17, 2009

Genome Biology and Evolution (2009) Vol. 2009:456; doi:10.1093/gbe/evp046 published on December 11, 2009

Population Genomics of Intron Splicing in 38 Saccharomyces cerevisiae Genome Sequences

Daniel A. Skelly, James Ronald, Caitlin F. Connelly and Joshua M. Akey
Department of Genome Sciences, University of Washington

E-mail: akeyj@u.washington.edu.

Abstract

Introns are a ubiquitous feature of eukaryotic genomes, and the dynamics of intron evolution between species has been extensively studied. However, comparatively few analyses have focused on the evolutionary forces shaping patterns of intron variation within species. To better understand the population genetic characteristics of introns, we performed an extensive population genetics analysis on key intron splice sequences obtained from 38 strains of Saccharomyces cerevisiae. As expected, we found that purifying selection is the dominant force governing intron splice sequence evolution in yeast, formally confirming that intron-containing alleles are a mutational liability. In addition, through extensive coalescent simulations, we obtain quantitative estimates of the strength of purifying selection (2Nes 19) and use diffusion approximations to provide insights into the evolutionary dynamics and sojourn times of newly arising splice sequence mutations in natural yeast populations. In contrast to previous functional studies, evolutionary analyses comparing the prevalence of introns in essential and nonessential genes suggest that introns in nonribosomal protein genes are functionally important and tend to be actively maintained in natural populations of S. cerevisiae. Finally, we demonstrate that heritable variation in splicing efficiency is common in intron-containing genes with splice sequence polymorphisms. More generally, our study highlights the advantages of population genomics analyses for exploring the forces that have generated extant patterns of genome variation and for illuminating basic biological processes.

Keywords: yeast, intron evolution, purifying selection, ancestral selection graph

Accepted November 6, 2009

Chung-I Wu, Associate Editor

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NOTA IMPERTINENTE DESTE BLOGGER:

Eu ainda estou por ver uma pesquisa que mostre que o splicing de gene surgiu através de processos cegos aleatórios e não télicos. Alguém pode me indicar na literatura especializada onde eu encontro um artigo ou pesquisa assim??? Só um, unzinho...