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Key Gene Controlling Eye Lens Development Identified

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Investigators at St. Jude Children's Research Hospital have discovered in mouse models that a gene called 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 with holoprosencephaly, a disease that can cause the part of the brain called the cerebrum to fail to divide normally into two lobes.

Previously, the St. Jude team demonstrated that Six3 activity is critical for the normal development of the forebrain in mice.

The researchers have now extended these results by showing in the developing eye that Six3 normally exerts its effect by directly activating Pax6, a gene considered the "master regulator of eye development."

A report on this work appears in the prepublication online issue of The EMBO Journal.

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

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