Key Gene Controlling Eye Lens Development Identified
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.
Other authors of this study include Oleg V. Lagutin (St. Jude); and Michael Mende and Andrea Streit, King's College, London.
This work was supported in part by the National Institutes of Health, a Cancer Center Support Grant, the Biotechnology and Biological Sciences Research Council and ALSAC.
St. Jude Children's Research Hospital
St. Jude Children's Research Hospital is internationally recognized for its pioneering work in finding cures and saving children with cancer and other catastrophic diseases. Founded by late entertainer Danny Thomas and based in Memphis, Tenn., St. Jude freely shares its discoveries with scientific and medical communities around the world. No family ever pays for treatments not covered by insurance, and families without insurance are never asked to pay. St. Jude is financially supported by ALSAC, its fund-raising organization. For more information, please visit http://www.stjude.org/.
St. Jude Children's Research Hospital
http://www.stjude.org/
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