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通过三重组装技术对树虎蛾(Arctia plantaginis)进行单倍型解析的从头基因组组装。

A haplotype-resolved, de novo genome assembly for the wood tiger moth (Arctia plantaginis) through trio binning.

机构信息

Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK.

Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, UK.

出版信息

Gigascience. 2020 Aug 1;9(8). doi: 10.1093/gigascience/giaa088.

Abstract

BACKGROUND

Diploid genome assembly is typically impeded by heterozygosity because it introduces errors when haplotypes are collapsed into a consensus sequence. Trio binning offers an innovative solution that exploits heterozygosity for assembly. Short, parental reads are used to assign parental origin to long reads from their F1 offspring before assembly, enabling complete haplotype resolution. Trio binning could therefore provide an effective strategy for assembling highly heterozygous genomes, which are traditionally problematic, such as insect genomes. This includes the wood tiger moth (Arctia plantaginis), which is an evolutionary study system for warning colour polymorphism.

FINDINGS

We produced a high-quality, haplotype-resolved assembly for Arctia plantaginis through trio binning. We sequenced a same-species family (F1 heterozygosity ∼1.9%) and used parental Illumina reads to bin 99.98% of offspring Pacific Biosciences reads by parental origin, before assembling each haplotype separately and scaffolding with 10X linked reads. Both assemblies are contiguous (mean scaffold N50: 8.2 Mb) and complete (mean BUSCO completeness: 97.3%), with annotations and 31 chromosomes identified through karyotyping. We used the assembly to analyse genome-wide population structure and relationships between 40 wild resequenced individuals from 5 populations across Europe, revealing the Georgian population as the most genetically differentiated with the lowest genetic diversity.

CONCLUSIONS

We present the first invertebrate genome to be assembled via trio binning. This assembly is one of the highest quality genomes available for Lepidoptera, supporting trio binning as a potent strategy for assembling heterozygous genomes. Using our assembly, we provide genomic insights into the geographic population structure of A. plantaginis.

摘要

背景

由于单体型在被合并为一致序列时会引入错误,因此二倍体基因组组装通常会受到杂合性的阻碍。三亲子-bin 为组装提供了一种利用杂合性的创新解决方案。在组装之前,使用短的亲本读长将亲本来源分配给来自其 F1 后代的长读长,从而实现完全单体型分辨率。因此,三亲子-bin 可以为组装高度杂合的基因组提供一种有效的策略,这些基因组传统上存在问题,例如昆虫基因组。这包括木虎蛾(Arctia plantaginis),它是一种警告色多态性的进化研究系统。

发现

我们通过三亲子-bin 为 Arctia plantaginis 生成了一个高质量的、单体型分辨率的组装。我们对一个同种的家庭(F1 杂合度约为 1.9%)进行了测序,并使用亲本 Illumina 读长将 99.98%的后代 Pacific Biosciences 读长按亲本来源进行 bin 分,然后分别组装每个单体型,并使用 10X 连锁读长进行支架构建。两个组装都是连续的(平均支架 N50:8.2 Mb)且完整(平均 BUSCO 完整性:97.3%),通过染色体组型分析鉴定了注释和 31 条染色体。我们使用该组装来分析 5 个欧洲种群的 40 个野生重测序个体的全基因组种群结构和关系,揭示格鲁吉亚种群的遗传分化最大,遗传多样性最低。

结论

我们提出了第一个通过三亲子-bin 组装的无脊椎动物基因组。该组装是鳞翅目可用的最高质量基因组之一,支持三亲子-bin 作为组装杂合基因组的有效策略。使用我们的组装,我们提供了对 A. plantaginis 地理种群结构的基因组见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7533/7433188/98ba92cf0726/giaa088fig1.jpg

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