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Y. Yang, Q.T. Duong, M.L. Robinson; Nectin-3 Is a Candidate Gene for Anterior Retinal Inversion (ari) . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2324.
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Purpose: We recently described the discovery of a new spontaneous, recessive mouse mutation called ari for anterior retinal inversion. Homozygous ari mutants exhibit an abnormal infolding of the retinal margin begining at midgestation and resulting in a severe loss of vitreous volume as well as abnormal ciliary body and iris development and microphthalmia. The ari mutation was mapped to an interval of approximately 2.3 million base pairs on mouse chromosome 16. The adhesion molecule nectin-3 is within this interval. The expression pattern of nectin-3 in the developing eye is unknown, and no mutations in nectin-3 have been reported. Therefore we examined the expression of nectin-3 in wildtype and mutant mice to determine if nectin-3 is a reasonable candidate for the ari mutation. Methods: The expression of nectin-3 in postnatal wildtype and ari mutant eyes was examined by RT-PCR and northern blot. The pattern of nectin-3 expression was also examined from E13.5 through birth by in situ hybridization using an EST for nectin-3 from a mouse retina cDNA library as a probe. Results: Northern blot detected 4 major transcripts for nectin-3 that were present in quantitatively similar amonts in RNA from mutant and wildtype eyes. At E13.5 nectin-3 expression is very prominent in the lens and lower levels are present in the neural retina. By E15.5 nectin-3 expression is stongest in the lens epithelium with significant expression in the neural retina, ocular muscles and developing optic nerve. At E17.5 through birth, nectin-3 expression is very high in the lens epithelium and retinal margin of wildtype mice with lower levels of expression in the neural retina. In ari mutants, nectin-3 expression in the retinal margin fails to intensify as in wildtype mice, and remains at the same level as that seen in neural retina. Conclusions: Nectin-3 is expressed in the developing eye in both wildtype and ari mutant mice. In wildtype mice, the highest level of nectin-3 expression are in the lens epithelium and retinal margin with lower levels of expression in the neural retina. In ari mutants, this pattern is similar with the exception of the retinal margin where nectin-3 expression remains unchanged relative to the neural retina.
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