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完成利什曼原虫(HU3 株)基因组和转录组注释的完整组装。

Complete assembly of the Leishmania donovani (HU3 strain) genome and transcriptome annotation.

机构信息

Centro de Biología Molecular "Severo Ochoa" (CSIC/UAM), Campus de Excelencia Internacional (CEI) UAM+CSIC, Universidad Autónoma de Madrid, Madrid, Spain.

Instituto de Parasitología y Biomedicina "López-Neyra" (IPBLN-CSIC), Granada, Spain.

出版信息

Sci Rep. 2019 Apr 16;9(1):6127. doi: 10.1038/s41598-019-42511-4.

Abstract

Leishmania donovani is a unicellular parasite that causes visceral leishmaniasis, a fatal disease in humans. In this study, a complete assembly of the genome of L. donovani is provided. Apart from being the first published genome of this strain (HU3), this constitutes the best assembly for an L. donovani genome attained to date. The use of a combination of sequencing platforms enabled to assemble, without any sequence gap, the 36 chromosomes for this species. Additionally, based on this assembly and using RNA-seq reads derived from poly-A + RNA, the transcriptome for this species, not yet available, was delineated. Alternative SL addition sites and heterogeneity in the poly-A addition sites were commonly observed for most of the genes. After a complete annotation of the transcriptome, 2,410 novel transcripts were defined. Additionally, the relative expression for all transcripts present in the promastigote stage was determined. Events of cis-splicing have been documented to occur during the maturation of the transcripts derived from genes LDHU3_07.0430 and LDHU3_29.3990. The complete genome assembly and the availability of the gene models (including annotation of untranslated regions) are important pieces to understand how differential gene expression occurs in this pathogen, and to decipher phenotypic peculiarities like tissue tropism, clinical disease, and drug susceptibility.

摘要

杜氏利什曼原虫是一种单细胞寄生虫,可引起内脏利什曼病,这是一种致命的人类疾病。在这项研究中,提供了杜氏利什曼原虫基因组的完整组装。除了是该菌株(HU3)的第一个公布基因组外,这也是迄今为止获得的最佳杜氏利什曼原虫基因组组装。结合使用多种测序平台,使得能够对该物种的 36 条染色体进行组装,没有任何序列缺口。此外,基于该组装,并使用源自 poly-A + RNA 的 RNA-seq 读数,描绘了该物种尚未可用的转录组。大多数基因通常观察到替代性 SL 添加位点和 poly-A 添加位点的异质性。在对转录组进行完整注释后,定义了 2,410 个新的转录本。此外,还确定了在前鞭毛体阶段存在的所有转录本的相对表达。已经记录到 cis-剪接事件发生在 LDHU3_07.0430 和 LDHU3_29.3990 基因衍生的转录本成熟过程中。完整的基因组组装和基因模型的可用性(包括非翻译区的注释)对于理解这种病原体中差异基因表达是如何发生的,以及破译组织嗜性、临床疾病和药物敏感性等表型特征非常重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/896b/6467909/f45f08fb9225/41598_2019_42511_Fig1_HTML.jpg

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