Abstract
The PAX6 gene is a paradigm for our understanding of the molecular genetics of mammalian eye development. Twelve years after its identification it is one of the most intensively studied genes, both in terms of its diverse and complex functions during oculogenesis and its role in an ever-increasing variety of human congenital eye malformations. The PAX6 field has benefited greatly from the continued input of clinicians, human geneticists and developmental biologists. This review summarizes the latest data on the PAX6 mutation spectrum and recent insights into Pax6 function from the mouse.
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Abbreviations
- kb:
-
kilobases
- MRI:
-
magnetic resonance imaging
- PST:
-
proline, serine, and threonine-rich domain
- WAGR:
-
Wilms tumor, aniridia, genitourinary malformations and mental retardation
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This work was supported in the form of a Career Development Award from the UK Medical Research Council.
This review is the ninth in this series. Dr. Hanson describes the remarkable studies that have determined the relationship between the PAX6 gene and eye development. These studies include observations of anomalies in humans and also experimental studies in animals to determine the mechanism of action of the gene. In children with aniridia, the relationship between this determinant of ocular development and the WT1 gene of Wilms Tumor is discussed. The PAX6 gene is a prime example of a specific gene responsible for normal human development.
Alvin Zipursky
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Hanson, I. PAX6 and Congenital Eye Malformations. Pediatr Res 54, 791–796 (2003). https://doi.org/10.1203/01.PDR.0000096455.00657.98
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DOI: https://doi.org/10.1203/01.PDR.0000096455.00657.98
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