Mutations in the homeobox gene HESX1 contribute to a variety of pituitary-linked diseases in humans, resulting in a wide array of clinical manifestations. Here, Ezat Sajedi and colleagues show that the murine homologue of HESX1 is necessary for normal pituitary development and function, and has subtle effects on eye precursor cells and in the anterior brain. In addition, expression of the two HESX1 mutations associated with human disease, resulted in distinct murine phenotypes. The differential consequence of HESX1 expression in different tissue types and the unique manifestations of its mutations provide insight into the complex variability found in human hypopituitarism.
2008
