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作 者:汤柳笛 吴楠[1] 金焰[1] Tang Liudi;Wu Nan;Jin Yan(Laboratory of Medical Genetics,Harbin Medical University,Harbin 150081,China)
机构地区:[1]哈尔滨医科大学医学遗传学研究室,150081
出 处:《国际遗传学杂志》2018年第6期478-482,共5页International Journal of Genetics
基 金:教育部“创新团队开发计划”(IRT_16R18);黑龙江省青年科学基金(JJ2018QN0647);黑龙江省省属高等学校基本科研业务费科研项目(2017JCZX41).
摘 要:原癌基因(proto-oncogene)和抑癌基因(tumor-suppressor gene)的表达量改变是人类肿瘤形成的重要机制,基因重排(gene rearrangement)是基因表达量改变的重要原因。一种常见的理论是,基因重排导致原癌基因或抑制癌基因的拷贝数变异(copy-number variation),进而导致其表达量的增多或减少。长久以来,人们的研究主要集中于拷贝数变异造成的原癌基因或抑癌基因的基因剂量(gene dosage)改变,但少有人关注基因重排本身。近年来,越来越多的研究发现,在重排过程中发生的调控元件(regulatory element)位置变化同样与肿瘤发生发展相关,增强子劫持(enhancer hijacking)作为一种造成基因表达量改变的全新机制被发现,同时也将研究者对人类肿瘤发生发展机制的认识提升到全新的高度。Variations in proto-oncogene and tumor-suppressor gene expression are essential mechanisms of human tumorigenesis progression. Gene rearrangement is the major reason for change in gene expression. One of the common theories is that gene rearrangement can cause the copy-number variations of proto-oncogene or tumor-suppressor gene, thus resulting in the increasing or decrease in expression. For a long period of time, people have been mainly focusing on the gene dosage change as a result of copy-number variations, yet rarely have we paid attention to the rearrangement itself. In recent years, more researches discovered that the positional alterations of regulatory elements during rearrangements are also related to oncogenesis. Enhancer hijacking has been recovered as a new mechanism of gene expression changing, and simultaneously brought the understanding of human tumorigenesis progression to a new level.
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