The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice
Abstract
The rd7 mouse is a model for hereditary retinal degeneration characterized clinically by retinal spotting throughout the fundus and late onset retinal degeneration, and histologically by retinal dysplasia manifesting as folds and whorls in the photoreceptor layer. This study demonstrates that the rd7 phenotype results from a splicing error created by a genomic deletion of an intron and part of an exon. Hematoxylin/eosin staining of rd7 tissue shows that the whorls in the outer nuclear layer of the retina do not appear during embryonic development but manifest by postnatal day 12.5 (P12.5). Furthermore, in situ hybridization data indicates that the Nr2e3 message is first present at barely discernable levels at embryonic day 18.5, becomes abundant by P2.5, and reaches maximal adult levels by P10.5. Results from these experiments indicate that Nr2e3 message is expressed prior to the development of S-cones. This data coincides with studies in humans showing that mutations in Nr2e3 result in a unique type of retinal degeneration known as enhanced S-cone syndrome, where patients have a 30-fold increase in S-cone sensitivity compared to normal. Immunohistochemical staining of cone cells demonstrates that rd7 retinas have an increased number of cone cells compared to wild-type retinas. Thus, Nr2e3 may function by regulating genes involved in cone cell proliferation, and mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell-cell interactions.
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“There is additional retinal vascular attenuation and mottled retinal pigmentation at 16 months of age”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Haider et al., 2001
In the citing paper
“Nr2e3 is part of the cellular and nuclear receptor family for steroid hormones and is involved in cone cell proliferation, maintenance of photoreceptor topography and intercellular interactions, and expression of rod photoreceptor cell-specific genes”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Haider et al., 2001
Citations
Cites
A thyroid hormone receptor that is required for the development of green cone photoreceptors
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The structure of the nuclear hormone receptors
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Unique topographic separation of two spectral classes of cones in the mouse retina
Szél, Á., Röhlich, P., Gaffé, A. R., Juliusson, B., Aguirre, G. K., & Veen, T. V. (1992) · The Journal of Comparative Neurology · doi:10.1002/cne.903250302 · Cited by 301
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Identification of a photoreceptor cell-specific nuclear receptor
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Navigating the spectrum of inherited retinal diseases
YU, M., Vieta-Ferrer, E. R., & DING, X. (2026) · Handbook of clinical neurology · doi:10.1016/b978-0-443-22212-2.00007-0
Sun, C., Pfeifer, C. W., Zheng, Y., Apte, R. S., & Chen, S. (2026) · Scientific Reports · doi:10.1038/s41598-026-60825-y
“In Nrl −/− and Nr2e3 rd7/rd7 mice, retinal rosettes are formed in cone-dominant ONL or arise from disrupted rod differentiation 39,40 .”
Metadata
- Authors
- Haider, N. B.
- Affiliations
- Jackson Laboratory (US)
- Corresponding author
- Haider, N. B.
- ORCID
- Haider, N. B.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-08-01
- Volume
- 10
- Issue
- 16
- Pages
- 1619-1626
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2157773282
- Cited by
- 202
- References
- 29
- Citations by year
- 2026: 5 · 2025: 10 · 2024: 4 · 2023: 4 · 2022: 3 · 2021: 6 · 2020: 7 · 2019: 5 · 2018: 3 · 2017: 9 · 2016: 6 · 2015: 8 · 2014: 5 · 2013: 8 · 2012: 11
- FWCI
- 3.15
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Funders
- National Institutes of Health (NRSA T32)
- National Eye Institute (EY 11996, R01EY011996)
- National Cancer Institute (#CA34196, P30CA034196)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (T32 HD07065-21, T32HD007065)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Health Sciences › Medicine › Ophthalmology › Ocular Disorders and Treatments
- Keywords
- NR2E3, retinal degeneration, retinal dysplasia, S-cone photoreceptors, intron deletion, splicing errors, enhanced S-cone syndrome
- MeSH terms
- Animals, Cell Count, Cell Differentiation, Cell Division, Female, Fundus Oculi, Genotype, Humans, Immunohistochemistry, Male, Mice, Inbred C57BL, Mutation, Phenotype, Retina, Retinal Degeneration, Transcription Factors, Retinal Dysplasia, Retinal Cone Photoreceptor Cells, Receptors, Cytoplasmic and Nuclear, Gene Expression Profiling, Mice, Orphan Nuclear Receptors
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