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The genetic magic of tumorigenesis: How do fusion genes change the fate of cancer?
Fusion genes, a hybrid gene formed between two separate genes, have been identified as common in many human tumors. Because of their key roles in tumorigenesis, scientists continue to study these genes in depth in order to accurately diagnose cancer and predict its prognosis. Understanding the mechanism of fusion gene generation and the biological changes it causes can help us rethink the nature of cancer and its treatment.
The emergence of fusion genes is not only an error in the genome, but may also be the result of tumor cell evolution.
Historical Background of Fusion Genes
Fusion genes were first discovered in cancer cells in the 1980s, a discovery that stems from research in Philadelphia in 1960, when Peter Nowell and David Hungerford first described a gene that is associated with chronic myeloid leukemia. The small abnormal chromosome was later named the Philadelphia chromosome. Through subsequent research, Jenna Lowry revealed that the chromosome was formed by a translocation between chromosomes 9 and 22, rather than a simple deletion.
The discovery of the Philadelphia chromosome not only identified a tumor biomarker, but also opened an era of in-depth research on fusion genes.
Tumorigenesis and fusion genes
Since then, scientists have known the importance of fusion genes in tumor formation. These genes can produce abnormal proteins that are more active than non-fused genes and sometimes become oncogenes. For example, fusion genes such as BCR-ABL, TEL-AML1 and TMPRSS2-ERG are closely related to various blood tumors, sarcomas and prostate cancer. These gene products may have novel functions that could significantly alter the expression and progression of cancer.
During tumor development, the formation of fusion genes can promote tumor growth by increasing gene expression.
Diagnosis and detection of fusion genes
In cancer diagnosis, the detection of specific chromosomal abnormalities and their related fusion genes has become an important indicator. Commonly used detection methods include chromosome banding analysis, in situ hybridization technology and reverse transcription polymerase chain reaction. Although these methods have their own advantages and disadvantages, emerging high-throughput sequencing technologies and customized DNA microarrays have brought more efficient detection methods.
Fusion genes and gene evolution
Fusion genes play an important role in the evolution of gene structure. It often results in the emergence of new genes, a process that is driven by events such as duplication, sequence divergence and recombination. When it occurs in the coding sequence, the fusion gene will form a new gene and give it a new function; while fusion in the non-coding region may lead to misregulation of gene expression.
Fusion genes in research applications
Researchers can also intentionally create fusion genes for scientific research, an approach that can help study gene expression and gene regulation mechanisms. By fusing a reporter gene to the regulatory elements of a target gene, researchers can not only measure the activity level of gene regulation, but also identify the regulatory sites of a gene and even control the expression of a desired gene in specific cells.
This technology not only advances cancer research, but also opens up new treatment ideas.
Conclusion
With the deepening of research on fusion genes, we have a clearer understanding of their role in cancer progression and are gradually applying this knowledge to clinical diagnosis and treatment. The existence of fusion genes does change the fate of cancer, but in the future, can we overcome the challenges of these genes and find more effective treatments?
