A Review of the Highly Conserved PAX6 Gene in Eye Development Regulation
Abstract -- Aniridia is a human genetic disease that is manifested by alterations in the structure and function of the eye, including reduced iris size, absence of the fovea, and lens deformities (Glaser, et al. 1992). First documented as a genetic disease over 150 years ago, it has since become a model for autosomal dominant genetic disorders because of the high penetrance of its mutant alleles, the ease of diagnosis at birth, and a similar incidence in various populations (Glaser, et al. 1995). It was not until recently, however, that the aniridia gene (AN) was mapped (to chromosome band 11p13) and determined to be the gene PAX6 (Glaser, et al. 1992), a regulator of development of the eyes and central nervous system. There is a PAX6 dosage effect in aniridia ranging from mild loss of visual acuity and cataracts to severe nervous system defects and anopthalmia (complete absence of the eyes) (Glaser, et al. 1994).
Biological And Life Sciences
Journal of Young Investigators