FLI1

FLI1 (Friend Leukemia Integration 1) is a gene that encodes a transcription factor involved in the regulation of development and cell proliferation. It is a member of the Ets family of transcription factors and is recognized for its role in Ewing's sarcoma, a rare type of cancer that occurs in bones or in the soft tissue around the bones.

Function

The FLI1 gene provides instructions for making a protein that plays a crucial role in the development and function of cells that form blood vessels, blood cells, and certain types of connective tissue. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

Clinical significance

Mutations in the FLI1 gene have been associated with Ewing's sarcoma, a rare type of cancer that occurs in bones or in the soft tissue around the bones. This is primarily due to a translocation between chromosomes 11 and 22, which fuses the FLI1 gene with the EWSR1 gene. The resulting EWSR1/FLI1 fusion protein is believed to contribute to the development of Ewing's sarcoma by disrupting normal gene regulation.

FLI1 is also implicated in other diseases. For instance, it is overexpressed in the majority of cases of systemic lupus erythematosus, an autoimmune disease. Moreover, it has been associated with vasculitis, a condition that involves inflammation of the blood vessels.

Research

Research into the FLI1 gene and its associated protein continues to be a significant focus in the field of genetics. Understanding the precise mechanisms by which FLI1 mutations contribute to disease can potentially lead to the development of targeted therapies for conditions like Ewing's sarcoma and systemic lupus erythematosus.

See also

• Ets family
• Ewing's sarcoma
• Systemic lupus erythematosus
• Vasculitis