Date of Graduation
2002
Document Type
Thesis
Degree Type
MS
Committee Chair
Peter H. Mathers
Abstract
The Retinal homeobox (Rx) gene codes for a transcriptional regulator involved in retinal tissue development, and the protein sequence of this transcription factor has been highly conserved throughout evolution. Previous Rx-knock-out and over-expression experiments have identified Rx as an essential component for proper eye formation. Here we used gene sequencing to identify 2 different mutations in the hRx gene of three anophthalmic and microphthalmic patients. The Q147X mutation, located in helix 1 of the homeodomain most likely prevents Rx from binding to DNA, therefore preventing transcriptional regulation by Rx. The R192Q mutation located in helix 3 of the homeodomain is also believed to affect Rx activity by perturbing DNA binding. In addition, we used comparative array screening and subtractive hybridization to locate downstream effectors of Rx in mice. Four genes: protease nexin-1, endothelial differentiation factor-1 (EDF-1), zeta-globin, and D743 were identified and confirmed by virtual northern blot to be expressed at higher levels when functional Rx is present.
Recommended Citation
O'Kernick, Christina Marie, "The identification of downstream effectors of the Rx gene and its proposed role in anophthalmia/microphthalmia." (2002). Graduate Theses, Dissertations, and Problem Reports. 10636.
https://researchrepository.wvu.edu/etd/10636