Staszak Klaudia, Makałowska Izabela
Institute of Human Biology and Evolution, Faculty of Biology, Adam Mickiewicz University in Poznan, 61-614 Poznan, Poland.
Life (Basel). 2021 Jan 19;11(1):72. doi: 10.3390/life11010072.
This review summarizes the knowledge about retrogenes in the context of cancer and evolution. The retroposition, in which the processed mRNA from parental genes undergoes reverse transcription and the resulting cDNA is integrated back into the genome, results in additional copies of existing genes. Despite the initial misconception, retroposition-derived copies can become functional, and due to their role in the molecular evolution of genomes, they have been named the "seeds of evolution". It is convincing that retrogenes, as important elements involved in the evolution of species, also take part in the evolution of neoplastic tumors at the cell and species levels. The occurrence of specific "resistance mechanisms" to neoplastic transformation in some species has been noted. This phenomenon has been related to additional gene copies, including retrogenes. In addition, the role of retrogenes in the evolution of tumors has been described. Retrogene expression correlates with the occurrence of specific cancer subtypes, their stages, and their response to therapy. Phylogenetic insights into retrogenes show that most cancer-related retrocopies arose in the lineage of primates, and the number of identified cancer-related retrogenes demonstrates that these duplicates are quite important players in human carcinogenesis.
本综述总结了在癌症和进化背景下关于反转录基因的知识。反转录过程中，来自亲本基因的加工后的mRNA进行逆转录，产生的cDNA再整合回基因组，从而产生现有基因的额外拷贝。尽管最初存在误解，但反转录产生的拷贝可以发挥功能，并且由于它们在基因组分子进化中的作用，它们被称为“进化的种子”。令人信服的是，反转录基因作为参与物种进化的重要元素，也在细胞和物种水平上参与肿瘤的进化。已经注意到某些物种中存在对肿瘤转化的特定“抗性机制”。这种现象与包括反转录基因在内的额外基因拷贝有关。此外，还描述了反转录基因在肿瘤进化中的作用。反转录基因表达与特定癌症亚型的发生、分期及其对治疗的反应相关。对反转录基因的系统发育研究表明，大多数与癌症相关的反转录拷贝出现在灵长类动物谱系中，已鉴定的与癌症相关的反转录基因数量表明这些重复基因在人类致癌过程中是相当重要的参与者。
