Computer Technologies Laboratory, ITMO University, Kronverkskiy Prospekt 49-A, Saint Petersburg 197101, Russia.
Department of Mathematics, The George Washington University, 801 22nd Street NW, Washington, DC 20052, USA.
Gigascience. 2021 Mar 15;10(3). doi: 10.1093/gigascience/giab017.
Anopheles coluzzii and Anopheles arabiensis belong to the Anopheles gambiae complex and are among the major malaria vectors in sub-Saharan Africa. However, chromosome-level reference genome assemblies are still lacking for these medically important mosquito species.
In this study, we produced de novo chromosome-level genome assemblies for A. coluzzii and A. arabiensis using the long-read Oxford Nanopore sequencing technology and the Hi-C scaffolding approach. We obtained 273.4 and 256.8 Mb of the total assemblies for A. coluzzii and A. arabiensis, respectively. Each assembly consists of 3 chromosome-scale scaffolds (X, 2, 3), complete mitochondrion, and unordered contigs identified as autosomal pericentromeric DNA, X pericentromeric DNA, and Y sequences. Comparison of these assemblies with the existing assemblies for these species demonstrated that we obtained improved reference-quality genomes. The new assemblies allowed us to identify genomic coordinates for the breakpoint regions of fixed and polymorphic chromosomal inversions in A. coluzzii and A. arabiensis.
The new chromosome-level assemblies will facilitate functional and population genomic studies in A. coluzzii and A. arabiensis. The presented assembly pipeline will accelerate progress toward creating high-quality genome references for other disease vectors.
斑蚊属(Anopheles)的库蚊(Anopheles coluzzii)和阿蚊(Anopheles arabiensis)属于冈比亚按蚊复合体,是撒哈拉以南非洲主要的疟疾媒介之一。然而,这些具有医学重要性的蚊子物种仍然缺乏染色体水平的参考基因组组装。
在这项研究中,我们使用长读长 Oxford Nanopore 测序技术和 Hi-C 支架构建方法,为库蚊和阿蚊分别生成了从头开始的染色体水平基因组组装。我们分别获得了 273.4 和 256.8 Mb 的总组装。每个组装由 3 个染色体规模的支架(X、2、3)、完整的线粒体和未排序的 contigs 组成,这些 contigs 被鉴定为常染色体着丝粒 DNA、X 着丝粒 DNA 和 Y 序列。这些组装与这些物种现有的组装进行比较表明,我们获得了改进的参考质量基因组。新的组装允许我们确定库蚊和阿蚊中固定和多态性染色体倒位的断点区域的基因组坐标。
新的染色体水平组装将促进库蚊和阿蚊的功能和群体基因组学研究。所提出的组装管道将加速为其他病媒创建高质量基因组参考的进展。