Measuring Mutation Parameters in the Wild

自发突变是进化变化的原料，也是所有遗传缺陷（如人类遗传疾病）的最终来源。由于突变不常见，测量突变效应一直局限于在实验室条件下大量饲养和分析的模式生物。然而，了解突变如何与自然选择相结合需要量化突变率及其在野外的影响。在这里，我们建议使用模式生物拟南芥来测量野外突变的影响。因为植物很大，而且不会移动，它们为记录自然环境中的突变参数提供了绝佳的机会。我们建议在田间条件下种植积累了突变的品系。我们将测量生存和终生生殖产量，从而估计影响适应度的基因组突变率和突变适应度效应的分布。我们的研究具有更广泛的影响，因为突变对我们了解遗传性疾病的起源很重要，我们需要更深入地了解突变效应的环境决定因素。此外，小种群规模后果的保护遗传模型通常包含突变参数，我们的研究将提供这些参数。这项研究将使人们更深入地了解突变在进化过程中的作用。

Spontaneous mutations are the raw material of evolutionary change and the ultimate source of all genetic defects, such as human genetic diseases. Because mutation is infrequent, measuring mutational effects has been restricted to model organisms raised and assayed in large numbers in laboratory conditions. However, understanding how mutations interface with natural selection requires quantifying mutation rates and their effects in the wild. Here we propose to measure the effects of mutation in the wild using the model organism, Arabidopsis thaliana. Because plants are large and do not move, they offer an excellent opportunity for documenting mutational parameters in natural environments. We propose to plant lines that have accumulated mutations into field conditions. We will measure survival and lifetime reproductive production, thus estimating the genomic mutation rate affecting fitness and the distribution of fitness effects of mutation.Our study has broader impacts in that mutations are important to our understanding of the origins of heritable diseases and we need a greater understanding of the environmental determination of mutational effects. Furthermore, conservation genetic models of the consequences of small population size often incorporate mutational parameters, which our study will provide. This study will lead to a deeper understanding of the role of mutation in the evolutionary process.