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基于 Emydura subglobosa 基因组的两个假定线粒体蛋白编码基因的计算分析:一种功能注释方法。

Computational analysis on two putative mitochondrial protein-coding genes from the Emydura subglobosa genome: A functional annotation approach.

机构信息

Department of Molecular, Cell & Developmental Biology, University of California-Los Angeles, Los Angeles, California, United States of America.

出版信息

PLoS One. 2022 Aug 18;17(8):e0268031. doi: 10.1371/journal.pone.0268031. eCollection 2022.

Abstract

Rapid advancements in automated genomic technologies have uncovered many unique findings about the turtle genome and its associated features including olfactory gene expansions and duplications of toll-like receptors. However, despite the advent of large-scale sequencing, assembly, and annotation, about 40-50% of genes in eukaryotic genomes are left without functional annotation, severely limiting our knowledge of the biological information of genes. Additionally, these automated processes are prone to errors since draft genomes consist of several disconnected scaffolds whose order is unknown; erroneous draft assemblies may also be contaminated with foreign sequences and propagate to cause errors in annotation. Many of these automated annotations are thus incomplete and inaccurate, highlighting the need for functional annotation to link gene sequences to biological identity. In this study, we have functionally annotated two genes of the red-bellied short-neck turtle (Emydura subglobosa), a member of the relatively understudied pleurodire lineage of turtles. We improved upon initial ab initio gene predictions through homology-based evidence and generated refined consensus gene models. Through functional, localization, and structural analyses of the predicted proteins, we discovered conserved putative genes encoding mitochondrial proteins that play a role in C21-steroid hormone biosynthetic processes and fatty acid catabolism-both of which are distantly related by the tricarboxylic acid (TCA) cycle and share similar metabolic pathways. Overall, these findings further our knowledge about the genetic features underlying turtle physiology, morphology, and longevity, which have important implications for the treatment of human diseases and evolutionary studies.

摘要

自动化基因组技术的快速发展揭示了许多关于龟类基因组及其相关特征的独特发现,包括嗅觉基因的扩展和 Toll 样受体的重复。然而,尽管大规模测序、组装和注释已经出现,但真核生物基因组中约有 40-50%的基因仍然没有功能注释,这严重限制了我们对基因生物学信息的了解。此外,这些自动化过程容易出错,因为草稿基因组由几个不相连的支架组成,其顺序未知;错误的草案组装也可能被外来序列污染,并传播到注释中导致错误。因此,许多这些自动化注释是不完整和不准确的,突出了需要进行功能注释,将基因序列与生物学身份联系起来。在这项研究中,我们对红腹短颈龟(Emydura subglobosa)的两个基因进行了功能注释,红腹短颈龟是龟鳖目相对研究较少的侧颈龟科的成员。我们通过基于同源性的证据改进了最初的从头预测,并生成了改进的共识基因模型。通过预测蛋白的功能、定位和结构分析,我们发现了保守的假定基因,这些基因编码参与 C21-类固醇激素生物合成过程和脂肪酸分解代谢的线粒体蛋白,这两者通过三羧酸(TCA)循环和相似的代谢途径密切相关。总的来说,这些发现进一步加深了我们对龟类生理学、形态学和长寿的遗传特征的了解,这对人类疾病的治疗和进化研究具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67f7/9387794/9989c593978b/pone.0268031.g001.jpg

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