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基因组多样性与结构

: Genomic Diversity and Structure.

作者信息

Herreros-Cabello Alfonso, Callejas-Hernández Francisco, Gironès Núria, Fresno Manuel

机构信息

Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas, Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain.

Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.

出版信息

Pathogens. 2025 Jan 12;14(1):61. doi: 10.3390/pathogens14010061.

DOI:10.3390/pathogens14010061
PMID:39861022
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11768934/
Abstract

is the causative agent of Chagas disease, a neglected tropical disease, and one of the most important parasitic diseases worldwide. The first genome of was sequenced in 2005, and its complexity made assembly and annotation challenging. Nowadays, new sequencing methods have improved some strains' genome sequence and annotation, revealing this parasite's extensive genetic diversity and complexity. In this review, we examine the genetic diversity, the genomic structure, and the principal multi-gene families involved in the pathogenicity of . The genome sequence is divided into two compartments: the core (conserved) and the disruptive (variable in length and multicopy gene families among strains). The disruptive region has also been described as genome plasticity and plays a key role in the parasite survival and infection process. This region comprises several multi-gene families, including trans-sialidases, mucins, and mucin-associated surface proteins (MASPs). Trans-sialidases are the most prevalent genes in the genome with a key role in the infection process, while mucins and MASPs are also significant glycosylated proteins expressed on the parasite surface, essential for its biological functions, as host-parasite interaction, host cell invasion or protection against the host immune system, in both insect and mammalian stages. Collectively, in this review, some of the most recent advances in the structure and composition of the genome are reviewed.

摘要

是恰加斯病的病原体,恰加斯病是一种被忽视的热带疾病,也是全球最重要的寄生虫病之一。其首个基因组于2005年测序,因其复杂性使得组装和注释颇具挑战。如今,新的测序方法改进了一些菌株的基因组序列和注释,揭示了这种寄生虫广泛的遗传多样性和复杂性。在本综述中,我们研究了其遗传多样性、基因组结构以及参与致病性的主要多基因家族。该基因组序列分为两个部分:核心(保守)部分和破坏(长度可变且菌株间存在多拷贝基因家族)部分。破坏区域也被描述为基因组可塑性,在寄生虫的生存和感染过程中起关键作用。该区域包含几个多基因家族,包括转唾液酸酶、黏蛋白和黏蛋白相关表面蛋白(MASP)。转唾液酸酶是基因组中最普遍的基因,在感染过程中起关键作用,而黏蛋白和MASP也是在寄生虫表面表达的重要糖基化蛋白,对其生物学功能至关重要,在昆虫和哺乳动物阶段都参与宿主 - 寄生虫相互作用、宿主细胞入侵或抵御宿主免疫系统。总体而言,本综述对该基因组结构和组成方面的一些最新进展进行了综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/77502355c348/pathogens-14-00061-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/d8a85c2132e6/pathogens-14-00061-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/3ca1500b7f9d/pathogens-14-00061-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/4f081f74b49d/pathogens-14-00061-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/59bfbdd72112/pathogens-14-00061-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/77502355c348/pathogens-14-00061-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/d8a85c2132e6/pathogens-14-00061-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/3ca1500b7f9d/pathogens-14-00061-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/4f081f74b49d/pathogens-14-00061-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/59bfbdd72112/pathogens-14-00061-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d1/11768934/77502355c348/pathogens-14-00061-g005.jpg

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Nat Microbiol. 2023 Nov;8(11):2103-2114. doi: 10.1038/s41564-023-01483-y. Epub 2023 Oct 12.
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