Cited by 134Retinal Development and DisordersRetinal Diseases and TreatmentsGenetic and Kidney Cyst Diseases

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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

Kameya, S.·2002·Human Molecular Genetics

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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.

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Authors: Kameya, S.
Affiliations: Jackson Laboratory (US)
Corresponding author: Kameya, S.
ORCID: Kameya, S.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2002-08-01
Volume: 11
Issue: 16
Pages: 1879-1886
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/11.16.1879
OpenAlex: W2111852904
Cited by: 134
References: 41
Citations by year: 2026: 3 · 2025: 8 · 2024: 4 · 2023: 7 · 2022: 6 · 2021: 4 · 2020: 8 · 2019: 7 · 2018: 6 · 2017: 4 · 2016: 2 · 2015: 4 · 2014: 5 · 2013: 4 · 2012: 6
FWCI: 2.09
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5r01ey012093-03)
National Eye Institute (EY 11996, EY12093, R01EY011996)
National Cancer Institute (#CA34196, P30CA034196)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Keywords: MFRP, photoreceptor degeneration, retinal pigment epithelium, ciliary epithelium, Wnt signaling, cysteine-rich domain, splice donor mutation, exon skipping, positional cloning
MeSH terms: Frizzled-Related Proteins, Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Disease Models, Animal, DNA, Eye Proteins, Humans, Membrane Proteins, Mice, Mutant Strains, Molecular Sequence Data, Mutation, Retinal Degeneration, Gene Expression, Sequence Homology, Amino Acid, In Situ Hybridization, Mice

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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

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