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• W2111852904 endingPage "1886" @default.
• W2111852904 startingPage "1879" @default.
• W2111852904 abstract "The autosomal recessive mouse mutation retinal degeneration 6 (rd6) causes small, white retinal spots and progressive photoreceptor degeneration similar to that observed in human flecked retinal diseases. Using a positional cloning approach, we determined that rd6 mice carry a splice donor mutation in the mouse homolog of the human membrane-type frizzled-related protein (Mfrp) gene that results in the skipping of exon 4. We found that mRNA of Mfrp is predominantly expressed in the eye, and at a lower level in the brain. To determine where in the eye Mfrp is expressed, in situ hybridization was done and showed that Mfrp is expressed specifically in the retinal pigment epithelium (RPE) and ciliary epithelium of the eye. The deduced amino acid sequence of MFRP contains a region with similarities to the cysteine-rich domain (CRD) of frizzled, a gene originally found in Drosophila that controls tissue polarity. The CRD is essential for Wnt binding and signaling. Wnt signaling has been shown to be involved in the control of gene expression, cell adhesion, planar polarity, proliferation and apoptosis. We also observed the localization of Wnt family proteins in the apical membrane of the RPE. Our results provide genetic evidence for an involvement of the Mfrp gene expressed by RPE in the degeneration of photoreceptors." @default.
• W2111852904 created "2016-06-24" @default.
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• W2111852904 date "2002-08-01" @default.
• W2111852904 modified "2023-10-14" @default.
• W2111852904 title "Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6" @default.
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• W2111852904 doi "https://doi.org/10.1093/hmg/11.16.1879" @default.
• W2111852904 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12140190" @default.
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