Human macular gene expression

• Main Author: Hornan, Daniel Mark
• Published: University College London (University of London) 2005
• Subjects: 599.935
• Online Access: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.417834

The human macula is essential for precise vision. It contains many more cone photoreceptors than the peripheral retina, especially in the fovea. Cones are known to express specific opsins and other proteins that form part of the phototransduction cascade. However, relatively little is known about retinal macular gene expression compared with the rod-rich peripheral retina. I obtained human donor eyes and used foveo-macular and macular punches and sections of peripheral retina to study differential gene expression. I combined multiple microarray experiments with quantitative PCR, statistical, and bioinformatic analyses. I identified several known and previously unidentified retinal genes that are more abundant in the macula. I went on to characterize proteins encoded by histone deacetylase 9 and the morpheus gene family. Both were expressed in the human macula, especially in the photoreceptors. Several other genes also provided insight into the mechanisms of precise vision and its maintenance. Genes identified by this approach are excellent candidates for macular disease.