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Expression of different visual pigments in different photoreceptor neurons. Rhodopsin 4 (blue), Rhodopsin 6 (red), and Rhodopsin 1 (green) are expressed in different photoreceptors.

Molecular genetics of eye development and vision

Color vision is dependent upon the presence of photoreceptor neurons that are sensitive to different colors of light. This requires both a developmental program that generates different types of photoreceptor cells, and a collection of light sensitive pigments, expressed in different cells, that detect different colors of light. My lab is working on the molecular genetics of both of these problems using the fruit fly, Drosophila melanogaster.

Photoreceptor cell-fate determination and the regulation of visual pigment gene expression

The compound of eye of Drosophila is highly patterned and has been used extensively as a model system in developmental biology. We have found that the cell fate and visual pigment expression pattern of adjacent photoreceptor cells is tightly coordinated. It appears that one retinal cell type in the eye adopts one of two different cell fates in a stochastic (random) manner, and then communicates this decision (inductively) to the adjacent photoreceptor cell. These events coordinate the expression of the visual pigments in these two cells, and produce two types of optical units within the eye that have distinct color sensitivities.

To examine this process at a genetic and molecular level, we have identified a collection of mutants that have a variety of defects in eye development. These mutants define genes that are required for the normal patterning of the eye. One group of mutants shows defects in the stochastic determination event, and another group has defects in the inductive signal betw​een adjacent cells. We are currently characterizing these mutations and beginning the molecular analysis of the affected genes.

Visual pigment studies

We are also examining how the structures of different visual pigments regulate their color sensitivity. We have identified specific amino acid residues that are responsible for regulating UV vs. visible and blue vs. green sensitivity. Interestingly, these same amino acid sites in human and other vertebrate visual pigments are also responsible for tuning color sensitivity. Mutations at these sites may also lead to inherited forms of blindness. In addition, these same amino acid sites in human neurotransmitter receptors regulate the binding of transmitters and drugs as well as receptor activation.

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The Britt Lab is affiliated with the Department of Neurology at Dell Medical School.

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