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A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse

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Akhmedov, Novrouz B., Piriev, Natik I., Chang, Bo, Rapoport, Ana Lia, Hawes, Norman L., Nishina, Patsy M., Nusinowitz, Steven, Heckenlively, John R., Roderick, Thomas H., Kozak, Christine A., Danciger, Michael, Davisson, Muriel T., Farber, Debora B.·2000·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.97.10.5551PMC PMC25866

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Abstract

The rd7 mouse, an animal model for hereditary retinal degeneration, has some characteristics similar to human flecked retinal disorders. Here we report the identification of a deletion in a photoreceptor-specific nuclear receptor (mPNR) mRNA that is responsible for hereditary retinal dysplasia and degeneration in the rd7 mouse. mPNR was isolated from a pool of photoreceptor-specific cDNAs originally created by subtractive hybridization of mRNAs from normal and photoreceptorless rd mouse retinas. Localization of the gene corresponding to mPNR to mouse Chr 9 near the rd7 locus made it a candidate for the site of the rd7 mutation. Northern analysis of total RNA isolated from rd7 mouse retinas revealed no detectable signal after hybridization with the mPNR cDNA probe. However, with reverse transcription-PCR, we were able to amplify different fragments of mPNR from rd7 retinal RNA and to sequence them directly. We found a 380-nt deletion in the coding region of the rd7 mPNR message that creates a frame shift and produces a premature stop codon. This deletion accounts for more than 32% of the normal protein and eliminates a portion of the DNA-binding domain. In addition, it may result in the rapid degradation of the rd7 mPNR message by the nonsense-mediated decay pathway, preventing the synthesis of the corresponding protein. Our findings demonstrate that mPNR expression is critical for the normal development and function of the photoreceptor cells.

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Authors: Akhmedov, N. B., Piriev, N. I., Chang, B., Rapoport, A. L., Hawes, N. L., Nishina, P. M., Nusinowitz, S., Heckenlively, J. R., Roderick, T. H., Kozak, C. A., Danciger, M., Davisson, M. T., & Farber, D. B.
Affiliations: University of California, Los Angeles (US)
Jules Stein Eye Institute, University of California School of Medicine, Los Angeles, CA 90095-7000; The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609-1500; National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892; Department of Biology, Loyola Marymount University, Los Angeles, CA 90045; and Molecular Biology Institute, University of California, Los Angeles, CA 90095
Corresponding author: Farber, Debora B.
ORCID: Chang, Bo
Nishina, Patsy M.
Kozak, Christine A.
Farber, Debora B.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2000-05-09
Volume: 97
Issue: 10
Pages: 5551-5556
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.97.10.5551
PMC: PMC25866
OpenAlex: W2127724565
Cited by: 221
References: 30
Citations by year: 2026: 6 · 2025: 5 · 2024: 4 · 2023: 6 · 2022: 1 · 2021: 7 · 2020: 6 · 2019: 3 · 2018: 6 · 2017: 14 · 2016: 2 · 2015: 9 · 2014: 5 · 2013: 7 · 2012: 9
FWCI: 3.14
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
Funders: Research to Prevent Blindness
National Institutes of Health
National Eye Institute (R01EY008285, R01EY007758, EY 11996, EY07758, R01EY011996, EY08285)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
Keywords: inherited retinal degeneration, photoreceptors, nuclear receptors, nonsense mutation, frame shift, DNA-binding domain, nonsense-mediated mRNA decay, photoreceptor development, retinal dysplasia, mouse chromosome 9
MeSH terms: Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Electroretinography, Genetic Markers, Humans, Mice, Inbred C57BL, Mice, Inbred Strains, Mice, Mutant Strains, Molecular Sequence Data, Retinal Degeneration, RNA, Messenger, Transcription Factors, Sequence Deletion, DNA Primers, Receptors, Cytoplasmic and Nuclear, Codon, Terminator, Reverse Transcriptase Polymerase Chain Reaction, Photoreceptor Cells, Vertebrate, Mice, Orphan Nuclear Receptors

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A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse

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