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.
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
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