Population transcriptomics: a novel tool for studying genetic diversity in human populations under normal and pathological conditions.

IF 1 Q3 AGRICULTURE, MULTIDISCIPLINARY
A A Babovskaya, E A Trifonova, V A Stepanov
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引用次数: 0

Abstract

Genetic mechanisms regulating gene expression encompass complex processes such as transcription, translation, epigenetic modifications, and interactions of regulatory elements. These mechanisms play a crucial role in shaping phenotypic diversity in humans. High-throughput technologies, such as expression microarrays and next-generation sequencing (NGS), have enabled precise analysis of transcripts for thousands of genes genome-wide. These methods have enabled researchers to measure gene expression levels in various tissues and cells and to gain deeper insights into previously inaccessible biological processes. Numerous studies show that gene expression varies significantly among individuals. However, there are also notable differences between populations from different continental groups, driven by genetic, epigenetic, environmental factors, and natural selection. Furthermore, disease states represent an important factor influencing gene activity, as they can significantly alter the transcriptomic profiles of individual cells. In this context, comparative population genetic studies help uncover the molecular mechanisms underlying complex phenotypic traits and identify population-specific features of transcriptomic profiles in both health and disease. However, despite significant progress in this field, many aspects remain underexplored. Specifically, the distribution of gene expression variability among populations, the degree of research coverage for specific ethnic groups, the spectrum of biological materials used, and the contribution of population affiliation to observed differences in gene expression during pathological conditions require further investigation. This review presents an overview of contemporary research focused on analyzing variability in expression profiles across different human populations. It summarizes findings from individual studies, outlines the advantages and limitations of the methods employed, highlights key research directions in population transcriptomics, and discusses potential practical applications of the data obtained.

群体转录组学:在正常和病理条件下研究人类群体遗传多样性的新工具。
调控基因表达的遗传机制包括转录、翻译、表观遗传修饰和调控元件的相互作用等复杂过程。这些机制在人类表型多样性的形成中起着至关重要的作用。高通量技术,如表达微阵列和下一代测序(NGS),已经能够精确分析全基因组数千个基因的转录本。这些方法使研究人员能够测量各种组织和细胞中的基因表达水平,并对以前无法获得的生物过程有更深入的了解。大量研究表明,基因表达在个体之间存在显著差异。然而,在遗传、表观遗传、环境因素和自然选择的驱动下,不同大陆群体之间也存在显著差异。此外,疾病状态是影响基因活性的重要因素,因为它们可以显著改变单个细胞的转录组谱。在这种背景下,比较群体遗传研究有助于揭示复杂表型性状的分子机制,并确定健康和疾病中转录组谱的群体特异性特征。然而,尽管这一领域取得了重大进展,但许多方面仍未得到充分探索。具体而言,基因表达变异性在人群中的分布、对特定族群的研究覆盖程度、所使用的生物材料的光谱,以及在病理条件下观察到的基因表达差异在人群隶属关系中的贡献,都需要进一步研究。这篇综述介绍了当代研究的概况,重点是分析不同人群中表达谱的可变性。总结了个体研究的结果,概述了所采用方法的优点和局限性,重点介绍了群体转录组学的关键研究方向,并讨论了所获得数据的潜在实际应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Vavilovskii Zhurnal Genetiki i Selektsii
Vavilovskii Zhurnal Genetiki i Selektsii AGRICULTURE, MULTIDISCIPLINARY-
CiteScore
1.90
自引率
0.00%
发文量
119
审稿时长
8 weeks
期刊介绍: The "Vavilov Journal of genetics and breeding" publishes original research and review articles in all key areas of modern plant, animal and human genetics, genomics, bioinformatics and biotechnology. One of the main objectives of the journal is integration of theoretical and applied research in the field of genetics. Special attention is paid to the most topical areas in modern genetics dealing with global concerns such as food security and human health.
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