Methods for Functional Characterization of Genetic Polymorphisms of Non-Coding Regulatory Regions of the Human Genome

IF 2.3 4区生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemistry (Moscow) Pub Date : 2024-07-04 DOI:10.1134/S0006297924060026

Aksinya N. Uvarova, Elena A. Tkachenko, Ekaterina M. Stasevich, Elina A. Zheremyan, Kirill V. Korneev, Dmitry V. Kuprash

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Abstract

Currently, numerous associations between genetic polymorphisms and various diseases have been characterized through the Genome-Wide Association Studies. Majority of the clinically significant polymorphisms are localized in non-coding regions of the genome. While modern bioinformatic resources make it possible to predict molecular mechanisms that explain influence of the non-coding polymorphisms on gene expression, such hypotheses require experimental verification. This review discusses the methods for elucidating molecular mechanisms underlying dependence of the disease pathogenesis on specific genetic variants within the non-coding sequences. A particular focus is on the methods for identification of transcription factors with binding efficiency dependent on polymorphic variations. Despite remarkable progress in bioinformatic resources enabling prediction of the impact of polymorphisms on the disease pathogenesis, there is still the need for experimental approaches to investigate this issue.

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人类基因组非编码调控区遗传多态性的功能表征方法

摘要目前，通过全基因组关联研究（Genome-Wide Association Studies），已经确定了许多基因多态性与各种疾病之间的关联。大多数具有临床意义的多态性位于基因组的非编码区。虽然现代生物信息学资源使预测非编码多态性对基因表达影响的分子机制成为可能，但这些假设需要实验验证。本综述讨论了阐明疾病发病机制依赖于非编码序列中特定基因变异的分子机制的方法。其中特别关注鉴定转录因子与多态性变异的结合效率的方法。尽管生物信息学资源在预测多态性对疾病发病机制的影响方面取得了重大进展，但仍需要通过实验方法来研究这一问题。

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来源期刊

Biochemistry (Moscow) 生物-生化与分子生物学

CiteScore

4.70

自引率

3.60%

发文量

139

审稿时长

2 months

期刊介绍： Biochemistry (Moscow) is the journal that includes research papers in all fields of biochemistry as well as biochemical aspects of molecular biology, bioorganic chemistry, microbiology, immunology, physiology, and biomedical sciences. Coverage also extends to new experimental methods in biochemistry, theoretical contributions of biochemical importance, reviews of contemporary biochemical topics, and mini-reviews (News in Biochemistry).