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长读基因组组装和基因模型注释,用于啮齿动物疟原虫 Plasmodium yoelii 17XNL。

Long-read genome assembly and gene model annotations for the rodent malaria parasite Plasmodium yoelii 17XNL.

机构信息

Department of Biochemistry and Molecular Biology, The Huck Center for Malaria Research, The Center for Eukaryotic Gene Regulation, Pennsylvania State University, University Park, Pennsylvania, USA.

Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania, USA.

出版信息

J Biol Chem. 2023 Jul;299(7):104871. doi: 10.1016/j.jbc.2023.104871. Epub 2023 May 27.

Abstract

Malaria causes >600 thousand fatalities each year, with most cases attributed to the human-infectious Plasmodium falciparum species. Many rodent-infectious Plasmodium species, like Plasmodium berghei and Plasmodium yoelii, have been used as model species that can expedite studies of this pathogen. P. yoelii is an especially good model for investigating the mosquito and liver stages of development because key attributes closely resemble those of P. falciparum. Because of its importance, in 2002 the 17XNL strain of P. yoelii was the first rodent malaria parasite to be sequenced. Although this was a breakthrough effort, the assembly consisted of >5000 contiguous sequences that adversely impacted the annotated gene models. While other rodent malaria parasite genomes have been sequenced and annotated since then, including the related P. yoelii 17X strain, the 17XNL strain has not. As a result, genomic data for 17X has become the de facto reference genome for the 17XNL strain while leaving open questions surrounding possible differences between the 17XNL and 17X genomes. In this work, we present a high-quality genome assembly for P. yoelii 17XNL using PacBio DNA sequencing. In addition, we use Nanopore and Illumina RNA sequencing of mixed blood stages to create complete gene models that include coding sequences, alternate isoforms, and UTR designations. A comparison of the 17X and this new 17XNL assembly revealed biologically meaningful differences between the strains due to the presence of coding sequence variants. Taken together, our work provides a new genomic framework for studies with this commonly used rodent malaria model species.

摘要

疟疾每年导致超过 60 万人死亡,大多数病例归因于人类感染的恶性疟原虫物种。许多啮齿动物感染的疟原虫物种,如疟原虫和疟原虫,已被用作模型物种,可以加速对这种病原体的研究。疟原虫是研究蚊子和肝脏发育阶段的一个特别好的模型,因为关键属性与疟原虫非常相似。由于其重要性,2002 年疟原虫的 17XNL 株是第一个被测序的啮齿动物疟原虫寄生虫。尽管这是一项突破性的努力,但组装由>5000 个连续序列组成,对注释的基因模型产生了不利影响。虽然此后已经测序和注释了其他啮齿动物疟原虫基因组,包括相关的疟原虫 17X 株,但 17XNL 株尚未测序。因此,17X 的基因组数据已成为 17XNL 株的事实上的参考基因组,而 17XNL 和 17X 基因组之间可能存在差异的问题仍然存在。在这项工作中,我们使用 PacBio DNA 测序为疟原虫 17XNL 提供了高质量的基因组组装。此外,我们使用 Nanopore 和 Illumina 混合血阶段的 RNA 测序来创建包含编码序列、替代异构体和 UTR 指定的完整基因模型。17X 和这个新的 17XNL 组装的比较揭示了由于编码序列变体的存在,两个菌株之间存在有生物学意义的差异。总之,我们的工作为这个常用的啮齿动物疟疾模型物种的研究提供了一个新的基因组框架。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59ed/10320607/345d8b037375/gr1.jpg

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