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Key Gene Controlling Eye Lens Development Identified

ormal thickening, an initial critical step in lens formation.

“Our discovery helps to better unravel the regulatory pathway that controls normal lens formation,” said the paper’s senior author, Guillermo Oliver, Ph.D., a member of the St. Jude Genetics and Tumor Cell Biology department. “Specifically, it puts the Six3 gene at the top of the genetic cascade that controls the development of the lens. Understanding the early steps leading to lens formation will help us determine what goes wrong in disorders in which the lens does not form, or forms abnormally. That kind of information is often the first step in designing both preventive and treatment strategies for congenital diseases.”

The St. Jude team further showed that the proteins coded for by Six3 are present in the PLE before those coded by Pax6. This was evidence that production of Pax6 proteins in that region of the head starts after Six3 proteins are made, further supporting the idea that the Six3 gene controls the Pax6 gene. The researchers also demonstrated that the Six3 protein directly controls the expression of the Pax6 gene by binding to some of the DNA regions that regulate Pax6 activity.

“Our work confirms the early and vital role Six3 plays in the overall development of the eye, and gives us important insights into the interplay of genes during this time,” said Wei Liu, Ph.D., a postdoctoral fellow in Oliver’s laboratory. Lui is first author of the paper.

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