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.

中文翻译：

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端粒生物学和核糖体生物发生：结构和功能互连。

端粒是核蛋白结构，在保护和维持真核染色体方面发挥着关键作用。端粒和端粒酶可以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。细胞增殖还依赖于由核糖体进行的正确且有效的蛋白质合成。参与核糖体生物合成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，分别定义为核糖体病和端粒病。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规范功能。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 转录和成熟中具有意想不到的作用。这些观察结果指出了一种有趣的串扰机制，可能解释各种端粒病和核糖体病疾病中发现的许多致病基因突变的多种多效性症状。在这篇综述中，我们对真核端粒和 rDNA 位点结构进行了简要总结，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，最后对人类端粒病的重叠特征进行了评估和核糖体病。