DISSERTATION RESEARCH: The Genetic Architecture of a Chromosomal Inversion

论文研究：染色体倒位的遗传结构

• 批准号: 1311260
• 负责人: Daniel Hartl
• 金额: $ 1.4万
• 依托单位: Harvard University
• 依托单位国家: 美国
• 项目类别: Standard Grant
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-07-01 至 2015-06-30
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=1311260&HistoricalAwards=false
• 关键词: DISSERTATION; RESEARCH; Genetic; Architecture; Chromosomal

Chromosomal inversions, or structurally reversed portions of a chromosome, are a common and enigmatic form of genome structure evolution. Because inversions can suppress recombination between many genes, they are often characterized as 'supergenes' and have the potential to influence evolution in distinct ways from mutations in single genes. This project aims to dissect the evolution of one recently formed inversion in Drosophila melanogaster by identifying the genes that the inversion has captured. To accomplish this, the researchers will employ genetic mapping techniques using strains that do not bear the inversion, but that display a similar phenotype as inversion-bearing strains. After identifying the relevant genes, the researchers will use publically available data to analyze these genes to understand both their short and long term evolution. Beyond the direct scientific advances of this project, the broader impacts of the proposed research are numerous. The human genome is known to be highly polymorphic for chromosomal inversions and inversions have been directly implicated in human health concerns including reduced fertility and numerous diseases. It follows that understanding the natural selection that affects inversion evolution may yield valuable insight into many common human diseases. This project includes numerous opportunities for both undergraduate and high school students to participate, and the researchers are actively recruiting additional students to assist with this project and develop their own related projects. Finally, the software and theoretical tools developed for this project will enable other researchers to conduct similar research on chromosomal inversions in many other species.

染色体倒位，或染色体的结构反转部分，是基因组结构进化的常见且神秘的形式。由于倒位可以抑制许多基因之间的重组，因此它们通常被描述为“超基因”，并且有可能以与单个基因突变不同的方式影响进化。本计画的目的是剖析果蝇中一个最近形成的倒位的演化，并找出倒位所捕获的基因。为了实现这一目标，研究人员将采用遗传作图技术，使用不携带倒位的菌株，但显示出与携带倒位的菌株相似的表型。在确定相关基因后，研究人员将使用可获得的数据来分析这些基因，以了解它们的短期和长期进化。 除了该项目的直接科学进步之外，拟议研究的更广泛影响是众多的。已知人类基因组对于染色体倒位具有高度多态性，并且倒位直接涉及人类健康问题，包括生育力降低和许多疾病。因此，理解影响反转进化的自然选择可能会对许多常见的人类疾病产生有价值的见解。该项目包括本科生和高中生参与的众多机会，研究人员正在积极招募更多的学生来协助该项目并开发自己的相关项目。最后，为该项目开发的软件和理论工具将使其他研究人员能够对许多其他物种的染色体倒位进行类似的研究。