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N. J. Mollema, A. Sachs, N. B. Haider; A Novel Role for the Nuclear Hormone Receptor Nr2c1 in the Retina. Invest. Ophthalmol. Vis. Sci. 2010;51(13):5947.
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© ARVO (1962-2015); The Authors (2016-present)
We recently identified the nuclear receptor gene Nr2c1 as a direct target of Nr2e3, a transcription factor essential for photoreceptor development and function. Nr2c1 is an orphan nuclear hormone receptor, similar to Nr2e3, with no known function in the retina. The purpose of this study is to determine the role of Nr2c1 in retinal development through molecular and genetic characterization of an Nr2c1 mouse knockout.
Quantitative Rt-PCR and immunofluorescence were performed to establish an expression profile of Nr2c1 in the developing and mature retina. An Nr2c1 knockout mouse was created through a betagalactosidase gene trap insertion between exons 2 and 3 resulting in a truncated message. Mice were characterized clinically by indirect opthalmoscopy, functionally by ERG analysis, and histologically by H&E staining and immunohistochemistry.
Our studies using an Nr2c1 knockout mouse indicate that lack of Nr2c1 affects several layers of the retina. Nr2c1 null mice have severely impaired photoreceptor function and disruption of cone cell patterning. The inner retina of Nr2c1-/- mice exhibit decrease in horizontal cells as well as loss of inner retinal integrity. These results suggest that Nr2c1 has an important role in determining retinal cell fate and retinal organization.
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