This report encompasses fly models of various retinal diseases in which a rhodopsin gene is implicated as the causative gene. There are multiple rhodopsins in both human and flies, with complicated orthologous relationships; see the FlyBase Gene Groups report RHODOPSINS (FBgg0000070) for information about the Drosophila genes. Four of the human genes (RHO, OMIM:180380; OPN1LW, OMIM:300822; OPN1SW, OMIM:613522; and OPN1MW, OMIM:300821) are associated with retinal diseases, including retinitis pigmentosa, color blindness, and night blindness. The Drosophila rhodopsin ninaE has been used in several studies to model retinal disease; classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated for this gene.
None of the human rhodopsins that have been implicated in retinal disease has been introduced into flies. A UAS construct of the human gene most closely related to nina, Hsap\OPN4, has been introduced into flies; this gene has not been implicated in disease in human and has not been studied in the context of this disease model.
A mutational lesion of Dmel\ninaE analogous to a variant of the human gene RHO implicated in a form of retinitis pigmentosa has been studied. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): P37H in the fly ninaE gene (corresponds to P23H in the human RHO gene). See the human disease model report for retinitis pigmentosa 4 (FBhh0000199).
In animals carrying null mutations of Dmel\ninaE, the adult compound eye does not develop normally. There are defects in the rhabdomeres of photoreceptor cells R1-R6; progressive retinal degeneration is observed. Phenotypic assays using the fly gene have allowed characterization of genetic interactions. Physical interactions of the ninaE protein product have been described; see below and in the FlyBase gene report for ninaE.
[updated Apr. 2020 by FlyBase; FBrf0222196]
Ortholog of human genes OPN4 (reciprocal best hit); lower-scoring ortholog of OPN1LW, RHO and multiple other human opsin genes (multiple Drosophila to multiple human). Dmel\ninaE shares 27-34% identity and 46-51% similarity with these human genes.