RNA-binding protein EWS

RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 (gene). This protein plays a crucial role in various cellular processes, including gene expression, RNA processing, and the regulation of transcription factors. Due to its significant functions within the cell, mutations or alterations in the EWSR1 gene are associated with a range of diseases, most notably Ewing's sarcoma, a type of bone cancer primarily affecting children and young adults.

Function

The EWS protein is involved in the regulation of RNA splicing and mRNA transport, acting as a bridge between the RNA polymerase II machinery and other components necessary for proper gene expression. It has a well-characterized role in the maintenance of genome stability and the modulation of transcription, making it essential for normal cell function and development.

Clinical Significance

Alterations in the EWSR1 gene, including translocations and fusions with other genes, are a hallmark of Ewing's sarcoma. These genetic changes result in the production of fusion proteins that have oncogenic properties, leading to the uncontrolled growth of cancer cells. Besides Ewing's sarcoma, EWSR1 gene alterations have been implicated in other forms of cancer and diseases, highlighting the importance of this protein in cellular homeostasis and disease.

EWSR1 Gene Fusions

The most common translocation involving EWSR1 is t(11;22)(q24;q12), which fuses EWSR1 to the FLI1 gene. This translocation creates a novel fusion protein that acts as an aberrant transcription factor, driving the oncogenesis of Ewing's sarcoma. Other less common translocations involve EWSR1 and various partners, contributing to the diversity of Ewing's sarcoma presentations and possibly influencing the disease's prognosis and response to therapy.

Research and Therapeutic Implications

Understanding the molecular mechanisms underlying EWSR1-related diseases has been a focus of research, aiming to develop targeted therapies that can specifically inhibit the function of fusion proteins resulting from EWSR1 translocations. These efforts include the design of small molecule inhibitors and the use of RNA interference strategies to downregulate the expression of oncogenic fusion proteins.

See Also

• Gene expression
• RNA splicing
• Ewing's sarcoma
• Transcription factors
• Genome stability