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日本血吸虫基因组的改良组装。

An improved genome assembly of the fluke Schistosoma japonicum.

机构信息

Department of infectious diseases, Huashan Hospital, State Key Laboratory of Genetic Engineering, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.

National Institute of Parasitic Diseases, Chinese Center for Disease Control and Prevention, Key Laboratory of Parasite and Vector Biology of China Ministry of Health, WHO Collaborating Centre for Tropical Diseases, Joint Research Laboratory of Genetics and Ecology on Parasite-host Interaction, Chinese Center for Disease Control and Prevention & Fudan University, Shanghai, China.

出版信息

PLoS Negl Trop Dis. 2019 Aug 7;13(8):e0007612. doi: 10.1371/journal.pntd.0007612. eCollection 2019 Aug.

Abstract

BACKGROUND

Schistosoma japonicum is a parasitic flatworm that causes human schistosomiasis, which is a significant cause of morbidity in China and the Philippines. A single draft genome was available for S. japonicum, yet this assembly is very fragmented and only covers 90% of the genome, which make it difficult to be applied as a reference in functional genome analysis and genes discovery.

FINDINGS

In this study, we present a high-quality assembly of the fluke S. japonicum genome by combining 20 G (53X) long single molecule real time sequencing reads with 80 G ( 213X) Illumina paired-end reads. This improved genome assembly is approximately 370.5 Mb, with contig and scaffold N50 length of 871.9 kb and 1.09 Mb, representing 142.4-fold and 6.2-fold improvement over the released WGS-based assembly, respectively. Additionally, our assembly captured 85.2% complete and 4.6% partial eukaryotic Benchmarking Universal Single-Copy Orthologs. Repetitive elements account for 46.80% of the genome, and 10,089 of the protein-coding genes were predicted from the improved genome, of which 96.5% have been functionally annotated. Lastly, using the improved assembly, we identified 20 significantly expanded gene families in S. japonicum, and those genes were primarily enriched in functions of proteolysis and protein glycosylation.

CONCLUSIONS

Using the combination of PacBio and Illumina Sequencing technologies, we provided an improved high-quality genome of S. japonicum. This improved genome assembly, as well as the annotation, will be useful for the comparative genomics of the flukes and more importantly facilitate the molecular studies of this important parasite in the future.

摘要

背景

日本血吸虫是一种寄生扁形动物,可引起人体血吸虫病,是中国和菲律宾发病率的重要原因。曾经有一个日本血吸虫的单一草图基因组,但该组装非常碎片化,仅覆盖基因组的 90%,这使得它难以作为功能基因组分析和基因发现的参考。

发现

在这项研究中,我们通过结合 20 G(53X)长的单分子实时测序读长和 80 G(213X)Illumina 配对末端读长,呈现了一个高质量的吸虫日本血吸虫基因组组装。这个改进的基因组组装大约有 370.5 Mb,其 contig 和 scaffold N50 长度分别为 871.9 kb 和 1.09 Mb,分别比已发布的基于 WGS 的组装提高了 142.4 倍和 6.2 倍。此外,我们的组装捕获了 85.2%完整和 4.6%部分真核生物基准通用单拷贝同源物。重复元件占基因组的 46.80%,从改进的基因组中预测到 10089 个蛋白质编码基因,其中 96.5%具有功能注释。最后,使用改进的组装,我们在日本血吸虫中鉴定出 20 个显著扩展的基因家族,这些基因主要富集在蛋白酶解和蛋白质糖基化的功能中。

结论

使用 PacBio 和 Illumina 测序技术的组合,我们提供了日本血吸虫的改进的高质量基因组。这个改进的基因组组装以及注释,将有助于吸虫的比较基因组学研究,更重要的是,将有助于未来对这种重要寄生虫的分子研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/849f/6685614/48acc1ca7c85/pntd.0007612.g001.jpg

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