基于数据驱动的人类普遍表达基因综合分析

IF 11.5 2区 生物学 Q1 GENETICS & HEREDITY Genomics, Proteomics & Bioinformatics Pub Date : 2023-02-01 DOI:10.1016/j.gpb.2021.08.017
Jianlei Gu , Jiawei Dai , Hui Lu , Hongyu Zhao
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引用次数: 7

摘要

全面表征人类的时空基因表达模式对于揭示人类基因组的调控密码和理解人类疾病的分子机制至关重要。普遍表达基因(UEG)是指在生物体的大多数(如果不是全部的话)表型和生理条件下表达的基因。众所周知,许多人类基因在组织中广泛表达。然而,大多数先前的UEG研究只关注于提供UEG的列表,而没有捕捉它们的全局表达模式,从而限制了UEG信息的潜在使用。在这项研究中,我们提出了一个新的数据驱动框架,利用广泛收集的约40000个人类转录组来推导UEG及其相应的全球表达模式列表,这为进一步表征人类转录组提供了宝贵的资源。我们的结果表明,大约一半(12234;49.01%)的人类基因在至少80%的人类转录组中表达,人类转录组的中位大小为16342个基因(65.44%)。通过基因聚类,我们鉴定了一组UEG,命名为LoVarUEGs,其在人类转录组中具有稳定的表达,并且可以用作表达测量的内部参考基因。为了进一步证明这一资源的有用性,我们评估了16个先前预测的胰岛β细胞中不被允许的基因的整体表达模式,发现其中7个基因表现出相对更多样的表达模式,这表明这些基因的抑制可能不是胰岛β细胞独有的。
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Comprehensive Analysis of Ubiquitously Expressed Genes in Humans from A Data-driven Perspective

Comprehensive characterization of spatial and temporal gene expression patterns in humans is critical for uncovering the regulatory codes of the human genome and understanding the molecular mechanisms of human diseases. Ubiquitously expressed genes (UEGs) refer to the genes expressed across a majority of, if not all, phenotypic and physiological conditions of an organism. It is known that many human genes are broadly expressed across tissues. However, most previous UEG studies have only focused on providing a list of UEGs without capturing their global expression patterns, thus limiting the potential use of UEG information. In this study, we proposed a novel data-driven framework to leverage the extensive collection of ∼ 40,000 human transcriptomes to derive a list of UEGs and their corresponding global expression patterns, which offers a valuable resource to further characterize human transcriptome. Our results suggest that about half (12,234; 49.01%) of the human genes are expressed in at least 80% of human transcriptomes, and the median size of the human transcriptome is 16,342 genes (65.44%). Through gene clustering, we identified a set of UEGs, named LoVarUEGs, which have stable expression across human transcriptomes and can be used as internal reference genes for expression measurement. To further demonstrate the usefulness of this resource, we evaluated the global expression patterns for 16 previously predicted disallowed genes in islet beta cells and found that seven of these genes showed relatively more varied expression patterns, suggesting that the repression of these genes may not be unique to islet beta cells.

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来源期刊
Genomics, Proteomics & Bioinformatics
Genomics, Proteomics & Bioinformatics Biochemistry, Genetics and Molecular Biology-Biochemistry
CiteScore
14.30
自引率
4.20%
发文量
844
审稿时长
61 days
期刊介绍: Genomics, Proteomics and Bioinformatics (GPB) is the official journal of the Beijing Institute of Genomics, Chinese Academy of Sciences / China National Center for Bioinformation and Genetics Society of China. It aims to disseminate new developments in the field of omics and bioinformatics, publish high-quality discoveries quickly, and promote open access and online publication. GPB welcomes submissions in all areas of life science, biology, and biomedicine, with a focus on large data acquisition, analysis, and curation. Manuscripts covering omics and related bioinformatics topics are particularly encouraged. GPB is indexed/abstracted by PubMed/MEDLINE, PubMed Central, Scopus, BIOSIS Previews, Chemical Abstracts, CSCD, among others.
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