Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.

Abstract excerpt

PAX6 is a transcription factor with two DNA-binding domains (paired box and homeobox) and a proline-serine-threonine (PST)-rich transactivation domain. PAX6 regulates eye development in animals ranging from jellyfish to Drosophila to humans. Heterozygous mutations in the human PAX6 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis, and familial foveal dysplasia....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Binding Sites
• Share to Cell Line
• Share to DNA