Origins and architecture of human genomic variation

人类基因组变异的起源和结构

• 批准号: 293152-2012
• 负责人: Labuda, Damian
• 金额: $ 1.89万
• 依托单位: Université de Montréal
• 依托单位国家: 加拿大
• 项目类别: Discovery Grants Program - Individual
• 财政年份: 2012
• 资助国家: 加拿大
• 起止时间: 2012-01-01 至 2013-12-31
• 项目状态: 已结题
• 来源: https://www.nserc-crsng.gc.ca/ase-oro/Details-Detailles_eng.asp?id=506920
• 关键词: Origins; architecture; human; genomic; variation

Early 20th century mapping of genes in model organisms allowed us to understand the nature of heredity. During last two decades we turned to genetic mapping and sequencing of our genome. In this way we started learning about its structure and its population variability hoping to gain knowledge about genetic bases of human traits, to preserve our health and avoid disease. Our project continues this effort. It is about studying, understanding and explaining patterns of genetic variation among human populations. Such investigations provide basic tools and ingredients to study simple and complex genetic traits. Yet such practical outcomes cannot be realized without the basic knowledge on the organization and the function of our genetic program and on the architecture and sources of genomic variation. We start from the beginning, addressing many unanswered questions related to the origins of H. sapiens in Africa, its admixture with Neandertals and subsequent expansion to colonize the World. We develop new methods in order to learn about specific functional segments of our genome: some are responsible for the regulation of gene expression other carry signatures of human adaptations to changing environmental conditions. We also study genetic and evolutionary mechanisms that explain the way genetic information is organized. In our investigations we generate our own data using DNA samples we collected, but in the same time we also profit from rapidly growing publicly available human genetic diversity data. All these new results will advance our knowledge, leading to new conceptual and methodological developments in the analysis and understanding of the population variation. Our research program provides new training opportunities because of its multidisciplinarity becoming a breeding ground of new generation of specialists in basic and applied sciences such as bioinformatics and population genomics.

世纪早期对模式生物的基因作图使我们能够理解遗传的本质。在过去的二十年里，我们转向了基因图谱和基因组测序。通过这种方式，我们开始了解它的结构和种群变异性，希望获得有关人类特征遗传基础的知识，以保护我们的健康和避免疾病。我们的项目继续这一努力。它是关于研究，理解和解释人类种群之间的遗传变异模式。这些研究为研究简单和复杂的遗传性状提供了基本的工具和成分。然而，如果没有对我们的遗传程序的组织和功能以及基因组变异的结构和来源的基本知识，这些实际结果就无法实现。我们从头开始，解决许多悬而未决的问题有关的起源H。非洲的智人，它与尼安德特人的混合以及随后的殖民世界的扩张。我们开发了新的方法，以了解我们基因组的特定功能片段：一些负责基因表达的调节，另一些携带人类适应不断变化的环境条件的特征。我们还研究遗传和进化机制，解释遗传信息的组织方式。在我们的调查中，我们使用我们收集的DNA样本生成我们自己的数据，但与此同时，我们也从快速增长的公开的人类遗传多样性数据中获益。所有这些新的结果将推进我们的知识，导致新的概念和方法的发展，在分析和理解的人口变化。我们的研究计划提供了新的培训机会，因为它的多学科性成为基础和应用科学，如生物信息学和人口基因组学的新一代专家的温床。