Collaborative Research: A Novel Genetic Database to Test Models of Human Origins

合作研究：用于测试人类起源模型的新型基因数据库

• 批准号: 0423670
• 负责人: Michael Hammer
• 金额: --
• 依托单位: University of Arizona
• 依托单位国家: 美国
• 项目类别: Continuing Grant
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-01 至 2010-08-31
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=0423670&HistoricalAwards=false
• 关键词: Collaborative; Research; Novel; Genetic; Database

The human genome holds clues to the mystery of human origins. With the recent completion of the first draft of the human genome sequence scientists are now in a position to examine patterns of variation across the entire genome in multiple human populations. Such an undertaking will facilitate an understanding of events that took place tens of thousands of years ago, and the better design of studies to map genes involved in human disease today. In this project, scientists from different fields within genetics (both theoretical and empirical population genetics) will gather new data and design novel analytical methods to answer long-standing questions in human evolution. One focus of this research is on the evolutionary relationships of "archaic" human groups (such as the Neanderthals in Europe and Homo erectus in Asia) to modern humans. Did archaic forms make any contribution to the contemporary human gene pool, or were Neanderthals and H. erectus completely replaced (without interbreeding) by modern humans as they expanded out of Africa within the last 100 thousand years? Did the ancestors of present day groups make the transition to modern form in a small, isolated part of Africa, or over a broader geographic range with genetic contributions from divergent populations. Another focus of this research is on human population growth. Although our current population size is more than 6 billion, the long-term average population size was probably substantially less than 1 million. When did human populations begin to expand dramatically in size? Was this growth associated with a particular event in human history, such as the advent of language or the invention of agriculture?This collaborative project seeks to address these and related topics by building a public database of DNA sequences from contemporary human populations, and by developing the computational tools necessary for the analysis of the data. DNA sequences will be otabined from 90 regions of the genome in representatives of six geographically diverse populations (e.g., three from sub-Saharan Africa and three from Eurasia), as well as representatives of humans closest living relatives, the great apes. Statistical and computational methods will be developed for rigorously testing the predictions of alternative hypotheses. The results of this project will be disseminated to a larger audience both through a public website and through an interdisciplinary symposium on human origins that will be organized in the fourth year. This research has several broader impacts. First, it will encourage debate and interaction among researchers from genetics, paleontology, archaeology, and historical linguistics. Second, the research will integrate research, teaching, and community outreach. Undergraduate students, graduate students, and post-doctoral fellows will be trained in a combination of theoretical and experimental skills. Programs are in place at both the University of Arizona and the University of Southern California for identifying promising candidates from underrepresented minorities and these students will be recruited to participate in the project. While training a new generation of anthropological geneticists this project will facilitate novel discoveries in human origins research.

人类基因组为人类起源之谜提供了线索。 随着人类基因组序列第一稿的完成，科学家们现在可以检查多个人类群体中整个基因组的变异模式。 这项工作将有助于理解数万年前发生的事件，并更好地设计研究，以绘制与当今人类疾病有关的基因。在这个项目中，来自遗传学（理论和经验群体遗传学）不同领域的科学家将收集新的数据，设计新的分析方法，以回答人类进化中长期存在的问题。 这项研究的一个重点是“古代”人类群体（如欧洲的尼安德特人和亚洲的直立人）与现代人类的进化关系。 古人类对当代人类基因库有贡献吗？直立人在过去的10万年里从非洲扩张出来，被现代人完全取代（没有杂交）？ 现代群体的祖先是在非洲的一个小的、孤立的地区过渡到现代形式的，还是在更广泛的地理范围内，从不同的人群中遗传贡献。 这项研究的另一个重点是人口增长。 虽然我们目前的人口规模超过60亿，但长期平均人口规模可能远低于100万。 人类人口开始在规模上急剧膨胀是什么时候？ 这种增长是否与人类历史上的某个特定事件有关，比如语言的出现或农业的发明？这一合作项目旨在通过建立一个当代人口DNA序列公共数据库，并通过开发分析数据所需的计算工具，解决这些问题和相关问题。 DNA序列将从基因组的90个区域中提取，代表六个地理上不同的种群（例如，三个来自撒哈拉以南非洲，三个来自欧亚大陆），以及人类现存近亲的代表，即类人猿。 将开发统计和计算方法，以严格测试替代假设的预测。 该项目的成果将通过一个公共网站和将在第四年组织的关于人类起源的跨学科专题讨论会向更多的受众传播。这项研究有几个更广泛的影响。 首先，它将鼓励遗传学、古生物学、考古学和历史语言学研究人员之间的辩论和互动。 第二，研究将整合研究，教学和社区推广。 本科生，研究生和博士后研究员将接受理论和实验技能相结合的培训。 亚利桑那大学和南加州大学都制定了方案，从代表性不足的少数群体中确定有前途的候选人，这些学生将被招募参加该项目。 在培养新一代人类学遗传学家的同时，该项目将促进人类起源研究的新发现。