DISSERTATION RESEARCH: The Genetic Architecture of a Chromosomal Inversion

染色体倒位，或染色体的结构逆转部分，是基因组结构进化的一种常见而神秘的形式。因为反转可以抑制许多基因之间的重组，它们通常被描述为“超基因”，并且有可能以不同于单一基因突变的方式影响进化。该项目旨在通过识别反转所捕获的基因来解剖最近在果蝇中形成的反转的进化。为了实现这一目标，研究人员将采用遗传作图技术，使用不携带反转的菌株，但显示出与携带反转菌株相似的表型。在确定相关基因后，研究人员将使用公开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无数的。众所周知，人类基因组在染色体倒位方面具有高度多态性，而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。这个项目为本科生和高中生提供了许多参与的机会，研究人员正在积极招募更多的学生来协助这个项目，并开发他们自己的相关项目。最后，为这个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。

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.