The role of genome composition and activation in shaping the translocation landscape in health and disease.

Medical research archives Pub Date : 2024-12-29 eCollection Date: 2025-01-01 DOI:10.18103/mra.v12i12.6212
Anna Oncins, Jessica Velten, Renée Beekman
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Abstract

Translocations are rearrangements produced upon erroneous repair of double-strand breaks, fusing segments of non-homologous chromosomes. These events can cause chimeric protein expression and other transcriptional alterations, eventually driving oncogenic transformation. Despite their significance, the factors shaping the heterogeneous translocation landscape in healthy individuals and cancer patients remain incompletely understood. In this review, we focus on genomic content and activation as two fundamental factors associated with translocation formation and selection. While emphasizing the critical role of double-strand breaks and interchromosomal contacts in translocation formation, we discuss that selective advantage is likely the main driver shaping translocation landscapes in health and disease. Finally, we address that it remains difficult to disentangle the effect of translocation formation from the influence of selective pressure, and point out that unraveling their separate contribution in future studies will be key to better understand early tumorigenesis.

Abstract Image

基因组组成和激活在塑造健康和疾病易位景观中的作用。
易位是由于双链断裂的错误修复而产生的重排,融合了非同源染色体的片段。这些事件可引起嵌合蛋白表达和其他转录改变,最终驱动致癌转化。尽管具有重要意义,但在健康个体和癌症患者中形成异质易位景观的因素仍未完全了解。在这篇综述中,我们关注基因组的内容和激活作为易位形成和选择的两个基本因素。在强调双链断裂和染色体间接触在易位形成中的关键作用的同时,我们讨论了选择优势可能是形成健康和疾病易位景观的主要驱动因素。最后,我们指出,将易位形成的影响与选择压力的影响区分开来仍然很困难,并指出,在未来的研究中,揭示它们各自的贡献将是更好地理解早期肿瘤发生的关键。
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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