CAJ | 학술논문

融合基因是指两个基因的全部或一部分序列相互融合为一个新的基因的过程，是染色体易位、中间缺失或染色体倒置所致的结果，通常具有致瘤性，在各种不同的肿瘤中普遍存在。基因融合是肿瘤的普遍特征，可促进肿瘤的发生和发展，并可作为肿瘤的分子诊断和治疗靶标。随着RNA深测序技术的发展，越来越多的融合基因逐渐被发现。本文综述了三种具有代表性的肿瘤融合基因BCR-ABL、SLC45A3-ELK4和PAX3-FOXO1，着重阐述融合基因在肿瘤发生发展中的作用及其分子作用机制。
융합기인시지량개기인적전부혹일부분서렬상호융합위일개신적기인적과정，시염색체역위、중간결실혹염색체도치소치적결과，통상구유치류성，재각충불동적종류중보편존재。기인융합시종류적보편특정，가촉진종류적발생화발전，병가작위종류적분자진단화치료파표。수착RNA심측서기술적발전，월래월다적융합기인축점피발현。본문종술료삼충구유대표성적종류융합기인BCR-ABL、SLC45A3-ELK4화PAX3-FOXO1，착중천술융합기인재종류발생발전중적작용급기분자작용궤제。
Gene fusion is a hybrid gene formed from whole or part of two separate genes. It can be formed by transloca-tion, interstitial deletion, or chromosomal inversion. Usually, it is closely related to tumor genesis. And it has been detected in a variety of tumors. Gene fusion is a common feature of cancer. Some fusions are regarded as ideal biomarkers and thera-peutic targets. With the development of RNA deep sequencing technology, more and more gene fusions have been uncov-ered. Here, in this review, we report three representative tumor gene fusions which were named as BCR-ABL, SLC45A3-ELK4 and PAX3-FOXO1. We are focusing on the functions of chimeric RNA in the tumor and molecular mechanisms.