The Genetic basis of Natural Ionomic Variation

描述（由申请人提供）。已知进化力量驱动种群内局部适应性遗传变异的固定，这种变异被认为与在人类种群中观察到的对疾病和药理学试剂的不同反应有关。植物的自然变异有很好的文献记载，植物为研究其遗传起源、维持和适应意义提供了一个很好的模型。我们的目标是利用遗传模式植物拟南芥群体之间发生的自然遗传变异来识别这些自然群体之间变化的基因功能。这样一组多态基因和基因功能将为揭示驱动群体内局部适应性遗传变异固定的遗传机制提供必要的工具。为了将自然遗传变异与功能联系起来，我们应用了基于电感耦合等离子体质谱（ICP-MS）的高通量元素谱分析平台，结合全基因组关联图谱和传统连锁图谱，揭示了驱动植物元素谱或“离子组”自然变异的位点，包括P、Ca、K、Mg（常量营养元素）；Cu、Fe、Zn、Mn、Co、Ni、Se、Mo、I（对植物和人体健康有重要意义的微量元素）；钠、砷和镉（引起农业或环境问题的矿物质）。通过实验室和野外实验的结合，我们提出揭示这些自然发生的多态基因组位点的适应性利益和进化意义，以及它们的分子功能，以及潜在的因果遗传和表观遗传基础。这些信息将有助于确定生物适应当地环境的进化过程。这些见解将有助于预测未来植物对全球气候变化驱动的地球表面化学变化的适应程度和限制，并将应用于优化粮食作物的矿物质含量，以改善人类健康。毕竟，植物为世界上大部分人口提供了主要的营养来源。矿物质营养缺乏，如铁和锌，仍然是全世界关注的健康问题。基于我们的研究，粮食作物的生物强化为这一问题提供了一个可持续的、低成本的解决方案。事实上，生物强化最近被列为改善发展中国家健康的十大生物技术之一。

DESCRIPTION (provided by applicant).Evolutionary forces are known to drive the fixation of locally adaptive genetic variation within populations, and such variation is thought to be involved in the differential response to disease and pharmacological agents observed in human populations. Natural variation is well documented in plants, and plants provide an excellent model for investigations into its genetic origins, maintenance and adaptive significance. We aim to take advantage of the natural genetic variation that occurs between populations of the genetic model plant Arabidopsis thaliana to identify gene functions that vary between these natural populations. Such a set of polymorphic genes and gene functions will provide the essential tools required to uncover the genetic mechanisms that drive the fixation of locally adaptive genetic variation within a population. To link natural genetic variation to function, we have applied high-throughput Inductively Coupled Plasma - Mass Spectroscopy (ICP-MS) based elemental-profiling platform, in combination with genome-wide association mapping and traditional linkage mapping to reveal loci that drive natural variation in the plant's elemental- profile or "ionome" including P, Ca, K, Mg (macronutrients); Cu, Fe, Zn, Mn, Co, Ni, Se, Mo, I (micronutrients of significance to plant and human health); Na, As, and Cd (minerals causing agricultural or environmental problems). Using a combination of laboratory and field-based experiments we propose to uncover the adaptive benefit and evolutionary significance of these naturally occurring polymorphic ionomic loci, along with their molecular function, and underlying causal genetic and epigenetic basis. This information will help determine the evolutionary processes involved in adaptation of organisms to local environments. Such insights will help in predicting the extent and limits of possible future adaptations of plants to changes in the surface chemistry of the Earth driven by a changing global climate, and will have applications to optimizing the mineral content of food crops for improved human health. After all, plants provide the major source of nutrition for a large portion of the world's population. Relevance Mineral nutrient deficiencies, such as iron and zinc, remain worldwide health concerns. Biofortification of food crops based on our research offers a sustainable, low-cost solution to this problem. Indeed, biofortification was recently ranked in the top 10 biotechnologies for improving health in developing countries.