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重新评估 和 基因组揭示了错误组装、核型差异和染色体重排。

Reevaluation of the and genomes reveals misassembly, karyotype differences, and chromosomal rearrangements.

机构信息

Laboratory of Host Pathogen Interactions-Molecular Biology Unit, Institut Pasteur de Montevideo, 11400 Montevideo, Uruguay.

Laboratory of Apicomplexan Biology, Institut Pasteur de Montevideo, 11400 Montevideo, Uruguay.

出版信息

Genome Res. 2021 May;31(5):823-833. doi: 10.1101/gr.262832.120. Epub 2021 Apr 27.

DOI:10.1101/gr.262832.120
PMID:33906964
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8092007/
Abstract

primarily infects cattle, causing abortions, with an estimated impact of a billion dollars on the worldwide economy annually. However, the study of its biology has been unheeded by the established paradigm that it is virtually identical to its close relative, the widely studied human pathogen By revisiting the genome sequence, assembly, and annotation using third-generation sequencing technologies, here we show that the genome was originally incorrectly assembled under the presumption of synteny with We show that major chromosomal rearrangements have occurred between these species. Importantly, we show that chromosomes originally named Chr VIIb and VIII are indeed fused, reducing the karyotype of both and to 13 chromosomes. We reannotate the genome, revealing more than 500 new genes. We sequence and annotate the nonphotosynthetic plastid and mitochondrial genomes and show that although apicoplast genomes are virtually identical, high levels of gene fragmentation and reshuffling exist between species and strains. Our results correct assembly artifacts that are currently widely distributed in the genome database of and and, more importantly, highlight the mitochondria as a previously oversighted source of variability and pave the way for a change in the paradigm of synteny, encouraging rethinking the genome as basis of the comparative unique biology of these pathogens.

摘要

主要感染牛,引起流产,估计每年给全球经济造成 10 亿美元的损失。然而,由于其与近亲——广泛研究的人类病原体 极为相似,这种生物的生物学研究一直被既定的范式所忽视。通过重新使用第三代测序技术来研究基因组序列、组装和注释,我们在这里表明,基因组最初是根据与 之间的同线性假设错误组装的。我们表明,这些物种之间发生了主要的染色体重排。重要的是,我们表明最初命名为 Chr VIIb 和 VIII 的染色体实际上是融合的,从而将 和 的染色体组型减少到 13 条。我们重新注释了 基因组,揭示了超过 500 个新基因。我们对非光合质体和线粒体基因组进行了测序和注释,并表明,尽管质体基因组几乎相同,但种间和菌株间存在大量基因碎片化和重排。我们的研究结果纠正了目前在 和 基因组数据库中广泛分布的组装假象,更重要的是,强调了线粒体是一个以前被忽视的变异来源,为改变同线性范式铺平了道路,鼓励重新思考基因组作为这些病原体比较独特生物学的基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/9b34e6561570/823f05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/e33efb38f24f/823f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/46db0a3969ba/823f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/35fe20720c32/823f03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/3e804ccfa479/823f04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/9b34e6561570/823f05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/e33efb38f24f/823f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/46db0a3969ba/823f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/35fe20720c32/823f03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/3e804ccfa479/823f04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce34/8092007/9b34e6561570/823f05.jpg

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