CAREER: The evolution of centromere organization in Drosophila

本项目研究果蝇(果蝇)的着丝粒功能和进化。着丝粒是确保细胞分裂过程中染色体正确分离的重要染色体区域。着丝粒的变异影响基因组进化、物种形成和人类疾病。人们对特定DNA序列在着丝粒功能和进化中的作用知之甚少。果蝇是研究着丝粒生物学基本方面的优秀模式生物，因为它们的基因组大小很紧凑。该项目将研究物种内和物种之间的着丝粒变异，以深入了解着丝粒DNA序列的功能和进化。该项目还将为本科生、研究生和博士后实习生创造跨学科的研究机会，重点是增加STEM中代表性不足群体的参与。教育目标是：1)将该项目的研究和数据整合到PI的“应用基因组学”课程中；2)招募不同的本科生进行该项目的研究；以及3)通过暑期工作坊增加STEM中代表性不足的群体的参与。反转录转座子是植物、哺乳动物、酵母和昆虫着丝粒的保守特征，但它们在着丝粒功能和进化中的作用尚不清楚。该项目将研究果蝇着丝粒的动力学，以了解反转录转座子如何塑造着丝粒组织的分子和进化方面。研究的目标是结合基因组、分子和遗传学的方法来：1)确定与黑腹果蝇和拟人猿分支密切相关物种的着丝粒组织；以及2)研究反转录转座子插入的模式、年龄、频率和活性，以检验这些元件是为了着丝粒功能而被选择的假设。这项工作对于广泛理解着丝粒结构变异的功能含义和反转录转座子在基因组进化中的作用非常重要。这一奖项反映了NSF的法定使命，并通过使用基金会的智力优势和更广泛的影响审查标准进行评估，被认为值得支持。

This project investigates centromere function and evolution in fruit flies (Drosophila). Centromeres are essential chromosome regions that ensure proper chromosome segregation during cell divisions. Variation in centromeres impacts genome evolution, speciation, and human disease. Little is known about the role of specific DNA sequences in centromere function and evolution. Drosophila species are excellent model organisms to study fundamental aspects of centromere biology because of their compact genome sizes. The project will investigate centromere variation within and between species to gain insights into the function and evolution of centromeric DNA sequences. The project will also generate interdisciplinary research opportunities for undergraduate, graduate, and postdoctoral trainees, with a focus on increasing participation from underrepresented groups in STEM. The educational goals are to: 1) integrate research and data from the project into the PI's "Applied Genomics" course; 2) recruit diverse undergraduates for research on the project; and 3) increase participation from groups underrepresented in STEM through summer workshops.Centromeres vary in size and complexity across organisms. Retrotransposons are conserved features of centromeres in plants, mammals, yeast, and insects, but their roles in centromere function and evolution are unknown. The project will investigate centromere dynamics in Drosophila to understand how retrotransposons shape molecular and evolutionary aspects of centromere organization. The research goals are to combine genomic, molecular, and genetic approaches to: 1) determine centromere organization in closely related species of Drosophila melanogaster and the simulans clade; and 2) study the pattern, age, frequency, and activity of retrotransposon insertions to test the hypothesis that these elements are under selection for centromere function. This work is important for broadly understanding the functional implications of structural variation at centromeres and the role of retrotransposons in genome evolution.This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.