Mitochondrial Genome Evolution and Cyto-nuclear Interactions in Divergent Mutational Environments

在几乎所有的真核生物中，基本的细胞过程依赖于线粒体基因组的功能及其与细胞核的协调相互作用。了解线粒体如何以及为什么维持自己的基因组是一个基本的生物学问题。突变率被假设为这些基因组进化的驱动力。高通量DNA测序技术的出现沿着最近发现的极端线粒体突变率的变化密切相关的物种之间的开花植物属蝇子草提供了一个无与伦比的机会来测试基因组进化中的突变过程的后果。该项目将从线粒体突变率相差超过100倍的多个Silene物种中产生完整的线粒体和叶绿体基因组序列。这些序列将用于测试关于突变率对基因组大小、结构和功能的进化影响的预测。此外，本研究还将鉴定和测序与线粒体基因组功能相互作用的核基因，以确定线粒体突变率如何影响核基因组。本项目中开发的基因组信息将为更大的生物学家群体提供可交付的资源，大大提高其作为生物学研究模型系统的价值。更广泛地说，增加我们对线粒体基因组突变过程和核/线粒体相互作用的理解将为线粒体功能障碍的应用研究提供信息。该研究还为基因组学和生物信息学等新兴领域的培训和职业发展创造了许多机会，并包括K-12外联、本科课程开发和纳入代表性不足群体的机制的具体计划。

In virtually all eukaryotic organisms, basic cellular processes depend on the function of mitochondrial genomes and their coordinated interaction with the nucleus. Understanding how and why mitochondria maintained their own genomes is a fundamental biological question. The rate of mutation has been hypothesized to be a driving force in the evolution of these genomes. The advent of high throughput DNA sequencing technology along with the recent discovery of extreme mitochondrial mutation rate variation among closely related species of flowering plants in the genus Silene presents an unparalleled opportunity to test the consequences of mutational processes in genome evolution. This project will produce complete mitochondrial and chloroplast genome sequences from multiple Silene species that vary more than 100-fold in mitochondrial mutation rate. These sequences will be used to test predictions regarding the evolutionary effects of mutation rate on genome size, structure and function. Furthermore, this research will identify and sequence nuclear genes that functionally interact with the mitochondrial genome to determine how mitochondrial mutation rate affects the nuclear genome.The genomic information developed in this project will be a deliverable resource for the larger community of biologists working with the genus Silene, significantly enhancing its value as a model system for biological research. More broadly, increasing our understanding of mutational processes in the mitochondrial genome and nuclear/mitochondrial interactions will inform applied research into mitochondrial dysfunction. The research also generates numerous opportunities for training and career development in the emerging fields of genomics and bioinformatics and includes specific plans for K-12 outreach, undergraduate curriculum development and mechanisms for incorporating under-represented groups.