Untangling the Role of Mutated Cohesin in Cancer Progression through Alternative Splicing Dysregulation

Introduction: Cohesin, Alternative Splicing and the Cancer Link

With an intricate web of biological interactions governing the growth and division of cells, any disruption in the delicate balance can have significant consequences. The protein complex cohesin is crucial in ensuring the faithful separation of chromosomes during cell division by holding the sister chromatids together. However, researchers at the National Cancer Institute (NCI) have discovered that cohesin also plays a role in alternative splicing. This process involves different combinations of coding regions of a gene during transcription, leading to multiple protein variants. The dysregulation of alternative splicing caused by cohesin mutations has now been linked to cancer, as it contributes to the initiation and progression of tumors.

Unraveling the Study: Depleting Cohesin and Analyzing Splicing Patterns

Intrigued by the potential role of cohesin mutations in cancer, the researchers decided to investigate further by depleting cohesin in human colorectal cancer cell lines. RNA sequencing was used to analyze the effect of cohesin depletion on splicing patterns. The results were striking, as they found that splicing was significantly altered in cell lines with cohesin mutations when compared to controls. The researchers then delved deeper into the role of cohesin in acute myeloid leukemia (AML) by analyzing RNA sequencing datasets of patient samples. The unique splicing patterns were only observed in samples with cohesin mutations, pointing to the regulatory role of cohesin in alternative splicing and its potential contribution to the progression of AML and other cancer types.

Conclusion: The Exciting Possibility of New Treatments

The discovery of the new function of cohesin is a step forward in the fight against cancer. With cohesin mutations associated with a wide range of common cancer types, this study sheds light on the underlying mechanism. However, there is still much to explore, such as how cohesin regulates gene expression and the extent to which cohesin mutations contribute to cancer progression. Nonetheless, this study opens up new avenues for treatment, offering hope to those affected by this devastating disease.