Chromosomal rearrangements in arboviral vector Aedes aegypti

项目总结 埃及伊蚊传播几种虫媒病毒疾病，包括登革热和寨卡病毒热，这些疾病威胁到 几乎占世界人口的一半。两个亚种，Ae.埃及伊蚊(Aaa)和埃及伊蚊(Ae.台湾埃及伊蚊 (AAF)，已根据它们的身体颜色进行了描述。这两个亚种各不相同 它们在世界各地的分布、与人类的联系以及传播病原体的能力方面也存在其他问题。在按蚊 在人群中，多态倒位通常是流行病学上重要的表型，但我们的 关于伊蚊种群中的染色体重排的知识很少。到目前为止，只有两条染色体 已在Ae的染色体上直接观察到倒位。来自塞内加尔的埃及伊蚊。基于我们的 根据初步数据，我们假设Ae中存在大量的染色体倒位。埃及伊蚊，并参与 自然种群中基因组和表型差异的建立和维持 蚊子。在这项研究中，我们将利用一个显著改进的、完全重新注释的基因组 Ae.的装配埃及和采用Hi-C方法以及牛津纳米孔技术(ONT) 用于表征染色体重排的测序。[本R21提案的主要目标是 识别伊蚊的染色体重排]。为此，我们提出了三项具体建议 目的：1)研究16株不同来源的AAA和AAF的染色体重排 使用Hi-C方法的世界人口；2)开发高质量的从头开始基因组组装 使用先进的基因组技术对AAF乌干达株进行研究；以及3)开发基于PCR和FISH的 具有医学应用潜力的3p2染色体倒位的鉴定方法 重要性。使用Hi-C分析和ONT测序的创新策略将使 Ae.染色体倒位的发现。并将刺激未来的基因研究，旨在 防止蚊媒疾病传播。

PROJECT SUMMARY Aedes aegypti transmits several arboviral diseases, including dengue and Zika fever, which threaten virtually half of the world’s population. Two subspecies, Ae. aegypti aegypti (Aaa) and Ae. aegypti formosus (Aaf), have been described based on their body coloration. These two subspecies differ remarkably from each other in their worldwide distribution, association with humans, and ability to transmit pathogens. In Anopheles populations, polymorphic inversions are often responsible for epidemiologically important phenotypes but our knowledge about chromosomal rearrangements in Aedes populations is scarce. So far, only two chromosomal inversions have been directly observed in chromosomes of Ae. aegypti from Senegal. Based on our preliminary data, we hypothesize that chromosomal inversions are abundant in Ae. aegypti and are involved in the establishment and maintenance of genomic and phenotypic divergence in natural populations of this mosquito. In this study, we will take advantage of a dramatically improved, fully re-annotated genome assembly for Ae. aegypti and employ the Hi-C approach along with Oxford Nanopore Technology (ONT) sequencing to characterize chromosomal rearrangements. [The primary goal of this R21 proposal is to identify chromosomal rearrangements in aedine mosquitoes]. Toward this end, we propose three specific aims: 1) characterize chromosomal rearrangements in 16 strains of Aaa and Aaf from various worldwide populations using the Hi-C approach; 2) develop a high-quality de novo genome assembly for the Aaf Uganda strain using advanced genome technologies; and 3) develop PCR and FISH-based approaches for identification of the 3p2 chromosomal inversion, which is potentially of medical importance. The innovative strategies of using Hi-C analysis and ONT sequencing will make possible the discovery of chromosomal inversions in Ae. aegypti and will stimulate future genetic studies aimed at preventing mosquito-borne disease transmission.