端粒生物学和核糖体生物发生:结构和功能的相互联系。

IF 2.4 3区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Biochemistry and Cell Biology Pub Date : 2023-10-01 Epub Date: 2023-03-29 DOI:10.1139/bcb-2022-0383
Liia R Valeeva, Liliia R Abdulkina, Inna A Agabekian, Eugene V Shakirov
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引用次数: 0

摘要

端粒是核蛋白结构,在真核生物染色体的保护和维持中起着关键作用。端粒和端粒酶补充复制过程中丢失的端粒DNA,是确保细胞持续增殖所必需的重要因素。细胞增殖还依赖于核糖体进行的适当有效的蛋白质合成。参与核糖体生物发生或端粒生物学的基因突变会导致细胞异常,并可能导致人类遗传疾病,分别被定义为核糖体疾病和端粒疾病。有趣的是,最近的发现表明,许多核糖体组装和rRNA成熟因子在端粒生物学中具有额外的非经典功能。同样,端粒生物学中涉及的几种关键蛋白质和酶,包括端粒酶,在rRNA转录和成熟中发挥着意想不到的作用。这些观察结果指出了一种有趣的串扰机制,它可能解释了在各种端粒病变和核糖体病变疾病中发现的许多致病基因突变的多重多效性症状。在这篇综述中,我们简要总结了真核生物端粒和rDNA基因座的结构,强调了rRNA和端粒酶生物发生的几个普遍特征,评估了端粒生物学和核糖体组装之间有趣的相互关系,并评估了人类端粒疾病和核糖体疾病的重叠特征。
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Telomere biology and ribosome biogenesis: structural and functional interconnections.

Telomeres are nucleoprotein structures that play a pivotal role in the protection and maintenance of eukaryotic chromosomes. Telomeres and the enzyme telomerase, which replenishes telomeric DNA lost during replication, are important factors necessary to ensure continued cell proliferation. Cell proliferation is also dependent on proper and efficient protein synthesis, which is carried out by ribosomes. Mutations in genes involved in either ribosome biogenesis or telomere biology result in cellular abnormalities and can cause human genetic diseases, defined as ribosomopathies and telomeropathies, respectively. Interestingly, recent discoveries indicate that many of the ribosome assembly and rRNA maturation factors have additional noncanonical functions in telomere biology. Similarly, several key proteins and enzymes involved in telomere biology, including telomerase, have unexpected roles in rRNA transcription and maturation. These observations point to an intriguing cross-talk mechanism potentially explaining the multiple pleiotropic symptoms of mutations in many causal genes identified in various telomeropathy and ribosomopathy diseases. In this review, we provide a brief summary of eukaryotic telomere and rDNA loci structures, highlight several universal features of rRNA and telomerase biogenesis, evaluate intriguing interconnections between telomere biology and ribosome assembly, and conclude with an assessment of overlapping features of human diseases of telomeropathies and ribosomopathies.

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来源期刊
Biochemistry and Cell Biology
Biochemistry and Cell Biology 生物-生化与分子生物学
CiteScore
6.30
自引率
0.00%
发文量
50
审稿时长
6-12 weeks
期刊介绍: Published since 1929, Biochemistry and Cell Biology explores every aspect of general biochemistry and includes up-to-date coverage of experimental research into cellular and molecular biology in eukaryotes, as well as review articles on topics of current interest and notes contributed by recognized international experts. Special issues each year are dedicated to expanding new areas of research in biochemistry and cell biology.
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