UCLA

Ocular Albinism (OA) is a disease characterized by hypopigmentation of the eyes and misrouting of the optic nerves. It is caused by mutations in the OA1 gene, which encodes a G-protein coupled receptor localized in the retinal pigment epithelium. Previously, microarrays carried out in the Farber lab comparing mRNAs from E15 control and Oa1-/- mouse eyes showed that doublecortin and Creb-binding protein (CBP) were down-regulated in Oa1-/- mice. To further explore if these proteins are involved in the Oa1 signaling cascade, I conducted a series of immunohistochemistry experiments to determine the localization of doublecortin, phosphorylated Creb (pCreb) and CBP in control and Oa1-/- retina/RPE. In addition to confirming their down-regulation in Oa1-/- retinas, my results suggest that doublecortin, pCreb and CBP are indeed involved in the Oa1 signaling cascade and may be related to the misrouting of the optic nerves in Oa1-/- mice and OA patients.