Gene Controlling Eye Lens Development Identified

Researchers at St. Jude Children's Research Hospital have discovered in mouse models that a genecalled Six3 is one of the earliest critical regulators that control development of the eye lens in the mammalian embryo.

Mutations in human Six3 have been identified in patients withholoprosencephaly, a disease that can cause the part of the brain calledthe cerebrum to fail to divide normally into two lobes.

Previously, the St. Jude team demonstrated that Six3 activity iscritical for the normal development of the forebrain in mice. Theresearchers have now extended these results by showing in the developingeye that Six3 normally exerts its effect by directly activating Pax6, a gene considered the "master regulator of eye development."

"This information might one day contribute to strategies for preventingor treating diseases caused by disruption of Six3 function," says Guillermo Oliver, a member of the St. Jude Genetics and Tumor Cell Biology department and senior author of a paper on the work.

"Our work gives us important insights into the interplay of genes during this crucial time," said Wei Liu, a postdoctoral fellow in Oliver's laboratory and first author of the paper.