Rifkin Scott A, Houle David, Kim Junhyong, White Kevin P
Department of Ecology and Evolutionary Biology, Yale University, PO Box 208106, New Haven, Connecticut 06520-8106, USA.
Nature. 2005 Nov 10;438(7065):220-3. doi: 10.1038/nature04114.
Mutation is the ultimate source of biological diversity because it generates the variation that fuels evolution. Gene expression is the first step by which an organism translates genetic information into developmental change. Here we estimate the rate at which mutation produces new variation in gene expression by measuring transcript abundances across the genome during the onset of metamorphosis in 12 initially identical Drosophila melanogaster lines that independently accumulated mutations for 200 generations. We find statistically significant mutational variation for 39% of the genome and a wide range of variability across corresponding genes. As genes are upregulated in development their variability decreases, and as they are downregulated it increases, indicating that developmental context affects the evolution of gene expression. A strong correlation between mutational variance and environmental variance shows that there is the potential for widespread canalization. By comparing the evolutionary rates that we report here with differences between species, we conclude that gene expression does not evolve according to strictly neutral models. Although spontaneous mutations have the potential to generate abundant variation in gene expression, natural variation is relatively constrained.
突变是生物多样性的最终来源,因为它产生了推动进化的变异。基因表达是生物体将遗传信息转化为发育变化的第一步。在这里,我们通过测量12个最初相同的黑腹果蝇品系在变态开始时全基因组的转录本丰度,估计突变产生基因表达新变异的速率,这些品系独立积累突变达200代。我们发现39%的基因组存在统计学上显著的突变变异,并且相应基因间存在广泛的变异性。随着基因在发育过程中上调,其变异性降低,而随着基因下调,其变异性增加,这表明发育背景影响基因表达的进化。突变方差与环境方差之间的强相关性表明存在广泛的发育稳态的可能性。通过将我们这里报告的进化速率与物种间差异进行比较,我们得出结论,基因表达并非按照严格的中性模型进化。尽管自发突变有可能在基因表达中产生丰富的变异,但自然变异相对受限。