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感染人类的主要物种的比较基因组分析。

Comparative genomic analysis of the principal species that infect humans.

作者信息

Arias-Agudelo Laura M, Garcia-Montoya Gisela, Cabarcas Felipe, Galvan-Diaz Ana L, Alzate Juan F

机构信息

Centro Nacional de Secuenciación Genómica - CNSG, Sede de Investigación Universitaria - SIU, Departamento de Microbiología y Parasitología, Facultad de Medicina, Universidad de Antioquia, Medellin, Antioquia, Colombia.

Grupo SISTEMIC, Departamento de Ingeniería Electrónica, Facultad de Ingeniería, Universidad de Antioquia, Medellin, Antioquia, Colombia.

出版信息

PeerJ. 2020 Dec 2;8:e10478. doi: 10.7717/peerj.10478. eCollection 2020.

Abstract

parasites are ubiquitous and can infect a broad range of vertebrates and are considered the most frequent protozoa associated with waterborne parasitic outbreaks. The intestine is the target of three of the species most frequently found in humans: , , and. . Despite the recent advance in genome sequencing projects for this apicomplexan, a broad genomic comparison including the three species most prevalent in humans have not been published so far. In this work, we downloaded raw NGS data, assembled it under normalized conditions, and compared 23 publicly available genomes of , , and . Although few genomes showed highly fragmented assemblies, most of them had less than 500 scaffolds and mean coverage that ranged between 35X and 511X. Synonymous single nucleotide variants were the most common in and , while in they accounted for around 50% of the SNV observed. Furthermore, deleterious nucleotide substitutions common to all three species were more common in genes associated with DNA repair, recombination, and chromosome-associated proteins. Indel events were observed in the 23 studied isolates that spanned up to 500 bases. The highest number of deletions was observed in , followed by , with more than 60 species-specific deletions found in some isolates of these two species. Although several genes with indel events have been partially annotated, most of them remain to encode uncharacterized proteins.

摘要

寄生虫无处不在,可感染多种脊椎动物,被认为是与水源性寄生虫暴发相关的最常见原生动物。肠道是人类最常发现的三种此类物种的靶器官: 、 和 。尽管这种顶复门寄生虫的基因组测序项目最近取得了进展,但迄今为止尚未发表包括人类中最普遍的这三种物种在内的广泛基因组比较。在这项工作中,我们下载了原始的二代测序(NGS)数据,在标准化条件下进行组装,并比较了 、 和 的23个公开可用基因组。虽然少数基因组显示出高度碎片化的组装,但大多数基因组的支架数少于500个,平均覆盖度在35X至511X之间。同义单核苷酸变异在 和 中最为常见,而在 中它们约占观察到的单核苷酸变异(SNV)的50%。此外,在与DNA修复、重组和染色体相关蛋白相关的基因中,这三种物种共有的有害核苷酸替换更为常见。在23个研究分离株中观察到了插入缺失事件,其长度可达500个碱基。在 中观察到的缺失数量最多,其次是 ,在这两个物种的一些分离株中发现了60多个物种特异性缺失。尽管一些有插入缺失事件的基因已得到部分注释,但它们中的大多数仍编码未表征的蛋白质。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e8a/7718795/18b892fc7c45/peerj-08-10478-g001.jpg

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