Leading the way to a cure


Characterization of PHRF1; A Ubiquitin Ligase Implicated In SLE

Tansey, William, PhD

Vanderbilt University Medical Center

Effective strategies to prevent, diagnose, treat, and cure lupus will ultimately be based on a detailed understanding of the genetic pathways involved in the disease. Over the past 15 years, researchers have made great strides in identifying genes that increase the risk of lupus, but there is still a great deal of work required to understand the function of these genes and their role in the disease.

Dr. Tansey’s work centers on a gene called PHRF1, thought to be involved in lupus. However, there is little understanding of how the gene functions or of its contribution to the disease.

Dr. Tansey and his team have identified versions of PHRF1 and learned that these genes display characteristics that suggest some relevance to lupus. Because related genes from other species often show identical behavior, they hypothesize that the human version of PHRF1 shares these same molecular functions. 

With their grant, the team will study the other versions of PHRF1, particularly with respect to how they control gene expression relevant to immunity and other lupus-related events. 

What this study means for people with lupus: These studies will provide much-needed information that will allow researchers to assess the molecular contribution of PHRF1 to lupus. The results of these and other studies will eventually enable researchers to design diagnostic or therapeutic strategies based on PHRF1 that could help diagnose lupus early and/or treat and prevent it.

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