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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
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Cited by
Sorted by citations
Nrl is required for rod photoreceptor development
Mears, A. J., Kondo, M., Swain, P. K., Takada, Y., Bush, R. A., Saunders, T. L., Sieving, P. A., & Swaroop, A. (2001) · Nature Genetics · doi:10.1038/ng774 · Cited by 912
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“…of any retinal cell type following commitment to a specific fate are generally poorly understood, although a number of transcription factors such as Crx, Nrl, and NR2E3 (Chen et al. 1997; Furukawa et al. 1997a; Haider et al. 2001; Mears et al. 2001) are clearly important in rod development.”
BackgroundInfluentialInoue, K., Nakada, K., Ogura, A., Isobe, K., Goto, Y.-I., Nonaka, I., & Hayashi, J.-I. (2000) · Nature Genetics · doi:10.1038/82826 · Cited by 333
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“, 1999), NRL and NR2E3 have specific roles in rod photoreceptor maturation and suppression of cone proliferation (Cheng et al., 2004; Haider et al., 2001; Mears et al., 2001).”
BackgroundThe chickenRaxLgene plays a role in the initiation of photoreceptor differentiation
Chen, C.-M. A., & Cepko, C. L. (2002) · Development · doi:10.1242/dev.00114 · Cited by 293
“Nr2e3 is expressed in photoreceptor cells (Kobayashi et al., 1999), and mutations in Nr2e3lead to an increased number of cone cells in mice and the enhanced S cone syndrome, a disorder of photoreceptor cells, in humans (Haider et al., 2000; Haider et al., 2001).”
BackgroundChen, J., Rattner, A., & Nathans, J. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.3571-04.2005 · Cited by 286
“In humans, NR2E3 mutations cause enhanced S-cone syndrome, an autosomal recessive disorder in which a progressive degeneration of rod photoreceptors is accompanied by an increase in the relative numbers of S-cones and a markedly enhanced sensitivity to short-wave light (Haider et al., 2000).”
BackgroundInfluentialCheng, H. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh173 · Cited by 268
“The rd7 mouse, carrying a deletion in the Nr2e3 gene, exhibits retinal dysplasia with increased number of S-cones and late-onset retinal degeneration (33,34).”
BackgroundPeng, G.-H., Ahmad, O. R., Ahmad, F., Liu, J., & Chen, S. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi070 · Cited by 271
“Similar to ESCS in humans, the rd7 retina has an excess of cones that express mostly S-cone opsin (39), although rod function appears to be normal in young adults by electroretinography (ERG) (38).”
BackgroundMethodResultMilam, A. H., Rose, L., Cideciyan, A. V., Barakat, M., Tang, W.-X., Gupta, N., Alemán, T. S., Wright, A. F., Stone, E. M., Sheffield, V. C., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.022533099 · Cited by 238
Regulation of photoreceptor gene expression by Crx-associated transcription factor network
Hennig, A. K., Peng, G.-H., & Chen, S. (2008) · Brain Research · doi:10.1016/j.brainres.2007.06.036 · Cited by 214
“Genetic analysis revealed that these mice carry a homozygous 380-bp deletion in the coding region of the Nr2e3 cDNA (Akhmedov et al., 2000; Haider et al., 2001), due to mRNA splicing defects resulting from an L1-retrotransposon insertion (Chen et al., 2006).”
InfluentialRattner, A., & Nathans, J. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.0492-05.2005 · Cited by 218
“1C) represents a response to retinal detachment rather than a direct result of the loss of Nr2e3 (the photoreceptor transcription factor mutated in the rd7 mouse) (Akhmedov et al., 2000; Haider et al., 2001).”
BackgroundRoberts, M. R., Hendrickson, A. E., McGuire, C. R., & Reh, T. A. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0093 · Cited by 202
Yoshida, S., Mears, A. J., Friedman, J. S., Carter, T., He, S., Oh, E. C. T., Jing, Y., Farjo, R. A., Fleury, G. A., Barlow, C., et al. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh160 · Cited by 180
“It should be noted that although only down-regulated genes were analyzed by ChIP, Nrl might negatively regulate (i.e. repress) the expression of cone-specific genes, much akin to the predicted role of Nr2e3 (21).”
BackgroundInfluentialSharon, D. (2003) · Archives of Ophthalmology · doi:10.1001/archopht.121.9.1316 · Cited by 179
“found in mice that are nullizygous for NR2E3.(16) Specifically, the NRL nullizygous mice have a complete loss of rod function and super-normal s-cone function,(31) and mice lacking the retina-specific exon of THRB1 have an excess of scones.”
BackgroundInfluentialCorbo, J. C., & Cepko, C. L. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010011 · Cited by 174
“consistent with previous antibody studies [17].”
InfluentialHelmlinger, D., Hardy, S., Sleymane, G. A., Eberlin, A., Bowman, A. B., Gansmüller, A., Picaud, S. A., Zoghbi, H. Y., Trottier, Y., Tora, L., et al. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040067 · Cited by 168
Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD)
Ramkumar, H. L., Zhang, J., & Chan, C.-C. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.02.002 · Cited by 163
“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 (Fuller, 1991; Haider et al., 2001; Cheng et al., 2004).”
BackgroundEpigenomic landscapes of retinal rods and cones
Mo, A., Luo, C., Davis, F. P., Mukamel, E. A., Henry, G. L., Nery, J. R., Urich, M. A., Picard, S., Lister, R., Eddy, S. R., et al. (2016) · eLife · doi:10.7554/elife.11613 · Cited by 159
“Relative to the mice used for INTACT, a younger set of mice were used in the whole retina ATAC-seq experiments in order to minimize effects due to low-level retinal degeneration in the Nrl KO retina ( Mears et al., 2001 ) and rd7 retina ( Haider et al., 2001 ).”
Pacione, L. R., Szego, M. J., Ikeda, S., Nishina, P. M., & McInnes, R. R. (2003) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.26.041002.131416 · Cited by 145
The Cis-regulatory Logic of the Mammalian Photoreceptor Transcriptional Network
Hsiau, T. H.-C., Diaconu, C. I., Myers, C. A., Lee, J., Cepko, C. L., & Corbo, J. C. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000643 · Cited by 142
“contrast, are rod-specific and are required for activation of rod genes and repression of cone genes [13,15,17–20].”
BackgroundResultOh, E. C. T., Cheng, H., Hong, H., Jia, L., Khan, N. W., & Swaroop, A. (2008) · Brain Research · doi:10.1016/j.brainres.2008.01.028 · Cited by 132
“We then compared Crxp-Nrl/WT and Crxp-Nr2e3/WT gene profiles to Nrl−/− (cone-only) and rd7 (1.5–2 fold more S-cones) profiles.”
BackgroundMethodInfluentialDevelopment of the retina and optic pathway
Reese, B. E. (2010) · Vision Research · doi:10.1016/j.visres.2010.07.010 · Cited by 140
Phenotypic Variation in Enhanced S-cone Syndrome
Audo, I. S., Michaelides, M., Robson, A. G., Hawlina, M., Vaclavik, V., Sandbach, J., Neveu, M. M., Hogg, C. R., Hunt, D. M., Moore, A. T., et al. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1629 · Cited by 127
“These abnormalities may be related to those in the rd7 mouse, which harbors a homozygous deletion in NR2E3 and displays retinal white dots early in the disease process that histologically correspond to rosettes of dysplastic photoreceptors and which disappear with age.(11,12) All subjects included in the study had typ…”
BackgroundCheng, H., Alemán, T. S., Cideciyan, A. V., Khanna, R., Jacobson, S. G., & Swaroop, A. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl185 · Cited by 130
“Based on previous studies (15,44) and the data reported here, we propose that at least two independent pathways downstream of NRL must function concurrently and synergistically to produce fully functional rods.”
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
Broadgate, S., Yu, J., Downes, S. M., & Halford, S. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.03.003 · Cited by 128
“, 2000) (Haider et al., 2001) Nrl Neural Retina Leucine Zipper Transcription factor RP Transgenic Mouse (Mears et al.”
BackgroundJacobson, S. G. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh198 · Cited by 115
“More than a decade of intense study in animals shows that mutation or misexpression of certain transcription factors can result in defects, which include: (i) failure to specify correctly one or more cell types (13,21–23); (ii) increased formation of alternative cell types (13,22,24–26); (iii) failure to complete diff…”
BackgroundElectrophysiological analysis of visual function in mutant mice
Peachey, N. S., & Ball, S. L. (2003) · Documenta Ophthalmologica · doi:10.1023/a:1024448314608 · Cited by 115
“density of cone photoreceptors [89], it was interesting to note that the ERGs recorded from rd7/rd7 mice”
BackgroundMechanisms of Photoreceptor Patterning in Vertebrates and Invertebrates
Viets, K., Eldred, K. C., & Johnston, R. J. (2016) · Trends in Genetics · doi:10.1016/j.tig.2016.07.004 · Cited by 111
Intrinsic control of mammalian retinogenesis
Xiang, M. (2012) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-012-1183-2 · Cited by 110
“characterized by the presence of hybrid photoreceptors and increased S-cones [64–67], and in humans it is associated with the enhanced S-cone syndrome [68, 69].”
Schorderet, D. F., & Escher, P. (2009) · Human Mutation · doi:10.1002/humu.21096 · Cited by 110
“At P16, shortly after eye opening at P14, white retinal spots were present over the entire retina [Haider et al., 2001].”
BackgroundInfluentialMouse models of age-related macular degeneration
Elizabeth Rakoczy, P., Yu, M. J. T., Nusinowitz, S., Chang, B., & Heckenlively, J. R. (2006) · Experimental Eye Research · doi:10.1016/j.exer.2005.10.012 · Cited by 107
Nishiguchi, K. M., Friedman, J. S., Sandberg, M. A., Swaroop, A., Berson, E. L., & Dryja, T. P. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408183101 · Cited by 106
Alternative splicing and retinal degeneration
Liu, M. M., & Zack, D. J. (2013) · Clinical Genetics · doi:10.1111/cge.12181 · Cited by 105
“Additionally, although they will not be considered further in this review, there are also a number of rodent models of retinal degeneration that result from cis-acting splicing defects or large deletions in the genomic DNA that result in exon skipping, including the rd16 mouse, in which exons 35–39 of Cep290 are skipp…”
BackgroundO’Brien, K. M. B., Cheng, H., Jiang, Y., Schulte, D., Swaroop, A., & Hendrickson, A. E. (2004) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-1317 · Cited by 101
“If either is absent or defective, rods do not develop appropriately and there is an increase in S cones.(13,15,16) In the Nrl / mouse, no Nr2e3 transcript was detected in postnatal day 10 retina, suggesting that Nrl modulates Nr2e3 expression.”
BackgroundResultInfluentialPATHOGNOMONIC (DIAGNOSTIC) ERGs A Review and Update
Vincent, A., Robson, A. G., & Holder, G. E. (2012) · Retina · doi:10.1097/iae.0b013e31827e2306 · Cited by 101
Weiner, J. A., Koo, S. J., Nicolas, S., Fraboulet, S., Pfaff, S. L., Pourquié, O., & Sanes, J. R. (2004) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2004.06.005 · Cited by 100
Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice
Helmlinger, D. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.26.3351 · Cited by 100
Haider, N. B., Mollema, N., Gaule, M., Yuan, Y., Sachs, A. J., Nystuen, A., Naggert, J. Κ., & Nishina, P. M. (2009) · Experimental Eye Research · doi:10.1016/j.exer.2009.04.006 · Cited by 92
“The retinal degeneration 7 (rd7, Nr2e3rd7/rd7) mutant mouse which lacks NR2E3, has been shown to have an increase in blue opsin expression without a concomitant increase in green opsin or significant reduction in rhodopsin expression (Hawes et al., 1999; Akhmedov et al., 2000; Haider et al., 2001).”
BackgroundMethodThyroid Hormone Controls Cone Opsin Expression in the Retina of Adult Rodents
Glaschke, A., Weiland, J., Turco, D. D., Steiner, M., Peichl, L., & Glösmann, M. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.6181-10.2011 · Cited by 92
“Mutations in either gene cause “enhanced S-cone syndrome,” characterized by a loss of rods and an excess of S-opsin-expressing cones (Haider et al., 2001, 2006; Mears et al., 2001; Yoshida et al., 2004), because precursors that are committed to become rods convert to cones.”
BackgroundKrol, J., Krol, I., Patino-Alvarez, C. P., Michele, F., Hierlemann, A. R., Roska, B., & Filipowicz, W. (2015) · Nature Communications · doi:10.1038/ncomms8305 · Cited by 88
A moving wave patterns the cone photoreceptor mosaic array in the zebrafish retina
Raymond, P. A., & Barthel, L. K. (2004) · The International Journal of Developmental Biology · doi:10.1387/ijdb.041873pr · Cited by 87
The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation
Haider, N. B., DeMarco, P. J., Nystuen, A., Huang, X., Smith, R. S., McCall, M. A., Naggert, J. Κ., & Nishina, P. M. (2006) · Visual Neuroscience · doi:10.1017/s095252380623027x · Cited by 86
“These current observations are consistent with our previous results of Nr2e3 localization using in situ hybridization ~Haider et al., 2001!.”
BackgroundMethodResultInfluentialWang, M.-S., Zhang, R.-W., Su, L.-Y., Li, Y., Peng, M.-S., Liu, H.-Q., Zeng, L., Irwin, D. M., Du, J.-L., Yao, Y.-G., et al. (2016) · Cell Research · doi:10.1038/cr.2016.44 · Cited by 85
Jacobson, S. G., Cideciyan, A. V., Alemán, T. S., Sumaroka, A., Schwartz, S., Windsor, E. A. M., Román, A. J., Héon, E., Stone, E. M., & Thompson, D. A. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0599 · Cited by 82
Naturally occurring animal models with outer retina phenotypes
Baehr, W., & Frederick, J. M. (2009) · Vision Research · doi:10.1016/j.visres.2009.04.008 · Cited by 79
Mollema, N., Yuan, Y., Jelcick, A. S., Sachs, A. J., von Alpen, D. C., Schorderet, D. F., Escher, P., & Haider, N. B. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017494 · Cited by 79
“Mice lacking Nr2e3 (Nr2e3, rd7) have supernumerary blue cone cells and slow, progressive loss of rods and cones [22–23].”
BackgroundMouse models of ocular diseases
Chang, B., Hawes, N. L., Hurd, R. E., Wang, J., Howell, D., Davisson, M. T., Roderick, T. H., Nusinowitz, S., & Heckenlively, J. R. (2005) · Visual Neuroscience · doi:10.1017/s0952523805225075 · Cited by 75
Chen, J., Rattner, A., & Nathans, J. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl138 · Cited by 73
“Tail DNA was prepared using standard methods and was PCR amplified with sense primer 50-GTAGCCTCTCCTGCTCT GGCAG-30 and antisense primer 50-CAGGTTGGAAAACA CAGGCAAG-30 (6) under the following conditions: 948C, 3 min followed by 35 cycles of 948C, 30 s; 608C, 30 s; and 728C 30 s, followed by a final extension of 728C for…”
BackgroundMethodResultMutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
Escher, P., Gouras, P., Roduit, R., Tiab, L., Bolay, S., Delarive, T., Chen, S., Tsai, C., Hayashi, M., Zernant, J., et al. (2008) · Human Mutation · doi:10.1002/humu.20858 · Cited by 72
“This abnormal number of cones leads to laminar disorganization and fragmentation of the retina [Akhmedov et al., 2000; Haider et al., 2001, 2006].”
Axon Regrowth during Development and Regeneration Following Injury Share Molecular Mechanisms
Yaniv, S. P., Issman-Zecharya, N., Oren‐Suissa, M., Podbilewicz, B., & Schuldiner, O. (2012) · Current Biology · doi:10.1016/j.cub.2012.07.044 · Cited by 73
Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene
Wang, N., Fine, H. F., Chang, S., Chou, C. L., Cella, W., Tosi, J., Lin, C.-S., Nagasaki, T., & Tsang, S. H. (2009) · British Journal of Ophthalmology · doi:10.1136/bjo.2008.153577 · Cited by 69
“Subretinal white dots[10] and abnormal lamination of the ONL[10,11] have been described in Nr2e3rd7 mutant mice.”
BackgroundRetinoic Acid Regulates the Expression of Photoreceptor Transcription Factor NRL
Khanna, H., Akimoto, M., Siffroi‐Fernandez, S., Friedman, J. S., Hicks, D., & Swaroop, A. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m605500200 · Cited by 71
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Self-citationde Carvalho, E. R., Robson, A. G., Arno, G., Boon, C. J. F., Webster, A. R., & Michaelides, M. (2020) · Ophthalmology Retina · doi:10.1016/j.oret.2020.07.008 · Cited by 65
Omori, Y., Katoh, K., Sato, S., Muranishi, Y., Chaya, T., Onishi, A., Minami, T., Fujikado, T., & Furukawa, T. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019685 · Cited by 64
“Lack of either Nrl or Nr2e3 causes photoreceptor subtype conversion from rod photoreceptor to S-cone photoreceptors [12,14].”
BackgroundAnimal modelling for inherited central vision loss
Kostic, C., & Arsenijévic, Y. (2015) · The Journal of Pathology · doi:10.1002/path.4641 · Cited by 64
“In the retina of rd7 mice, hybrid photoreceptors called ‘cods’, displaying many characteristics of S-cones, are present but no enhanced S-cone system is detected by electroretinogram (ERG) recordings [55–59].”
BackgroundYanagi, Y., Takezawa, S., & Kato, S. (2002) · PubMed · Cited by 62
Nystuen, A., Schwendinger, J., Sachs, A., Yang, A. W., & Haider, N. (2006) · Neurogenetics · doi:10.1007/s10048-006-0068-7 · Cited by 60
“Immunohistochemistry was performed as before [31] using an antibody specific to VAMP1 (Abcam).”
MethodEzra, D. G. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.062406 · Cited by 60
Cheng, H., Khan, N. W., Roger, J. E., & Swaroop, A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr334 · Cited by 60
“If that is the case, why are only a limited number of precursors transformed into S-cones, and not all those fated to be rods? It has been suggested that additional S-cones originate from abnormal cone proliferation due to the de-suppression of functional NR2E3 in cone precursors (49,50).”
Role of Nuclear Receptors in Central Nervous System Development and Associated Diseases
Maria, A. A., Moreno-Ramos, O. A., & Haider, N. B. (2015) · Journal of Experimental Neuroscience · doi:10.4137/jen.s25480 · Cited by 63
Defects in the Outer Limiting Membrane Are Associated with Rosette Development in the Nrl−/− Retina
Stuck, M. W., Conley, S. M., & Naash, M. I. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032484 · Cited by 57
“Rosettes are reported in the naturally occurring Nr2e3 mutant mouse model (rd7) and were previously thought to be due to over-proliferation of S-cones [35].”
BackgroundLi, T., Lewallen, M. E., Chen, S., Yu, W., Zhang, N., & Xie, T. (2013) · Cell Research · doi:10.1038/cr.2013.48 · Cited by 56
Shu, X., Zeng, Z., Gautier, P. E., Lennon, A., Gakovic, M., Patton, E. E., & Wright, A. F. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp533 · Cited by 53
“Cell death resulting from ZFRPGR2ORF15 knockdown could result from abnormal retinal development, as seen in Nr2e3 (55,57) or Cdkn1b/c mutants (59).”
BackgroundPeng, G.-H., & Chen, S. (2005) · Visual Neuroscience · doi:10.1017/s0952523805225063 · Cited by 52
“~Haider et al., 2000; Milam et al., 2002! and rd7 in mice ~Akhmedov et al., 2000; Haider et al., 2001!, both of which feature an excess of S-cones but loss of rods.”
BackgroundHennig, A. K., Peng, G.-H., & Chen, S. (2013) · PLoS ONE · doi:10.1371/journal.pone.0069721 · Cited by 51
“Abnormal retinal folds are often seen in mouse models where the rods undergo a cell fate switch to cones (Nrl or Nr2e3) [49][54][62], or which compromise the retinal outer limiting membrane (OLM), composed of adherens junctions Figure 5.”
BackgroundGenetics of photoreceptor development and function in zebrafish
Tsujikawa, M., & Malicki, J. J. (2004) · The International Journal of Developmental Biology · doi:10.1387/ijdb.041890mt · Cited by 51
“Murine loss of function mutations in Nrl, and Nr2e3, on the other hand, result in the overproduction of short wavelength cones at the expense of rods (Haider et al., 2001, Mears et al., 2001, Milam et al., 2002).”
BackgroundDual role of Nr2e3 in photoreceptor development and maintenance
Webber, A. L., Hodor, P. G., Thut, C. J., Vogt, T., Zhang, T., Holder, D., & Petrukhin, K. E. (2008) · Experimental Eye Research · doi:10.1016/j.exer.2008.04.006 · Cited by 50
Cruz, N. M., Yuan, Y., Leehy, B. D., Baid, R., Kompella, U., DeAngelis, M. M., Escher, P., & Haider, N. B. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087942 · Cited by 47
“Similar to patients with Nr2e3 mutations, rd7 mice exhibit significant increase of S-cones and progressive degeneration of rod and cone photoreceptor cells [38].”
BackgroundSelf-citationTakezawa, S., Yokoyama, A., Okada, M., Fujiki, R., Iriyama, A., Yanagi, Y., Ito, H., Takada, I., Kishimoto, M., Miyajima, A., et al. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601548 · Cited by 47
“The photoreceptor-specific orphan receptor PNR (NR2E3) is a pivotal regulator in the developing retina, as it determines cone photoreceptor phenotype (Haider et al, 2001; Milam et al, 2002; Yanagi et al, 2002).”
BackgroundRetractedTan, M. H. E., Zhou, X. E., Soon, F.-F., Li, X., Li, J., Yong, E., Melcher, K., & Xu, H. E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0074359 · Cited by 46
“Apart from ESCS, NR2E3 mutations have also been associated with clumped pigmentary retinal degeneration, recessive and autosomal dominant retinitis pigmentosa, and Goldman-Favre disease [7,19,23-33].”
BackgroundThe Determination of Rod and Cone Photoreceptor Fate
Cepko, C. L. (2015) · Annual Review of Vision Science · doi:10.1146/annurev-vision-090814-121657 · Cited by 48
Macular Function Assessed by Microperimetry in Patients with Enhanced S-Cone Syndrome
Sohn, E. H., Chen, F. K., Rubin, G. S., Moore, A. T., Webster, A. R., & MacLaren, R. E. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2009.10.046 · Cited by 45
Conflict of interest: the authors declare no conflict of interest.
Baygildin, S. S., Мусина, Л. А., & Khismatullina, Z. R. (2021) · Journal Biomed · doi:10.33647/2074-5982-17-1-70-81 · Cited by 44
Have we achieved a unified model of photoreceptor cell fate specification in vertebrates?
Adler, R., & Raymond, P. A. (2007) · Brain Research · doi:10.1016/j.brainres.2007.03.044 · Cited by 44
The Spectrum of Retinal Diseases Caused by NR2E3 Mutations in Israeli and Palestinian Patients
Bandah, D. (2009) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2008.615 · Cited by 42
Haider, N. B., Zhang, W., Hurd, R., Ikeda, A., Nystuen, A. M., Naggert, J. K., & Nishina, P. M. (2008) · Mammalian Genome · doi:10.1007/s00335-008-9092-2 · Cited by 41
“F1 offspring from each of these outcrosses were intercrossed to generate F2 mice, which were genotyped as previously described to identify those mice that were homozygous carriers of the Nr2e3 mutation (Haider et al. 2001).”
MethodKitambi, S. S., & Hauptmann, G. (2006) · Gene Expression Patterns · doi:10.1016/j.modgep.2006.10.006 · Cited by 41
Foxq2 determines blue cone identity in zebrafish
Ogawa, Y., Shiraki, T., Fukada, Y., & Kojima, D. (2021) · Science Advances · doi:10.1126/sciadv.abi9784 · Cited by 41
Lee, J., Myers, C., Williams, N. L., Abdelaziz, M., & Corbo, J. C. (2010) · Gene Therapy · doi:10.1038/gt.2010.77 · Cited by 40
Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9
Bohrer, L. R., Wiley, L. A., Burnight, E. R., Cooke, J. A., Giacalone, J. C., Anfinson, K. R., Andorf, J. L., Mullins, R. F., Stone, E. M., & Tucker, B. A. (2019) · Genes · doi:10.3390/genes10040278 · Cited by 40
Glushakova, L. G., Timmers, A. M., Pang, J., Teusner, J. T., & Hauswirth, W. W. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1670 · Cited by 39
“Suppression of cone fate is achieved through direct or indirect action of the nuclear receptor NR2E3, which is up-regulated by NRL.(28,38) When acting in concert with CRX, NR2E3 also appears to simultaneously promote the rod and repress the cone program during photoreceptor differentiation and maintenance.”
BackgroundAn Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome
Chavala, S. H. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2005.068130 · Cited by 38
Mito-mice: animal models for mitochondrial DNA-based diseases
Nakada, K., Inoue, K., & Hayashi, J.-I. (2001) · Seminars in Cell and Developmental Biology · doi:10.1006/scdb.2001.0283 · Cited by 37
Moreno-Ramos, O. A., Olivares, A. M., Haider, N. B., de Autismo, L. C., & Lattig, M. C. (2015) · PLoS ONE · doi:10.1371/journal.pone.0135927 · Cited by 39
“, 2001 where an annealing temperature of 58°C and 35 cycles were applied, and a dilution of 1:10 for the Input sample was used [58].”
Developmental defects in Rb-deficient retinae
Donovan, S. L., & Dyer, M. A. (2004) · Vision Research · doi:10.1016/j.visres.2004.08.007 · Cited by 36
“The other rod development mutants (Nrl / and Nr2e3 / ) gain cones at the expense of rods (Haider et al., 2000; Haider et al., 2001; Mears et al., 2001).”
Wang, N., Lai, C., Liu, C., Yeh, L., Chou, C. L., Kong, J., Nagasaki, T., Tsang, S. H., & Chien, C. L. (2013) · Disease Models & Mechanisms · doi:10.1242/dmm.012112 · Cited by 35
“The twogeneration outcross-intercross series was used to generate rd7/rd7;Tg/Tg double homozygotes for the Nr2e3rd7/rd7 mutation and Tg/Tg, as described previously (Haider et al., 2001).”
MethodGraham, D. R., Overbeek, P. A., & Ash, J. D. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0129 · Cited by 36
Shu, X., Zeng, Z., Gautier, P. E., Lennon, A., Gakovic, M., Cheetham, M. E., Patton, E. E., & Wright, A. F. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6800 · Cited by 34
Chen, J., & Nathans, J. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0922 · Cited by 34
Genetic Animal Models for Retinal Degeneration
Fauser, S., Luberichs, J., & Schüttauf, F. (2002) · Survey of Ophthalmology · doi:10.1016/s0039-6257(02)00314-4 · Cited by 34
Nakamura, P. A., Shimchuk, A. A., Tang, S., Wang, Z., DeGolier, K., Ding, S., & Reh, T. A. (2017) · eLife · doi:10.7554/elife.30577 · Cited by 31
“To further evaluate whether PR3 has other targets in the retina, we tested PR3 in Rd7 retinas, which harbor a spontaneous mutation in Nr2e3 (Akhmedov et al., 2000; Haider et al., 2001; Chen et al., 2006).”
Targeting of the NRL Pathway as a Therapeutic Strategy to Treat Retinitis Pigmentosa
Moore, S. M., Skowronska‐Krawczyk, D., & Chao, D. L. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9072224 · Cited by 31
“NR2E3 expression was localized to the outer nuclear (photoreceptor cell body) layer (ONL) of the retina and most abundantly following rod development, suggesting it functions to suppress cone gene expression [72].”
BackgroundWolkenberg, S. E., Zhao, Z., Kapitskaya, M. Z., Webber, A. L., Petrukhin, K. E., Tang, Y. S., Dean, D. C., Hartman, G. D., & Lindsley, C. W. (2006) · Bioorganic & Medicinal Chemistry Letters · doi:10.1016/j.bmcl.2006.07.056 · Cited by 32
Xie, S., Han, S., Qu, Z., Liu, F., Li, J., Yu, S., Reilly, J., Tu, J., Liu, X., Lu, Z., et al. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2019.01.022 · Cited by 33
“Rods account for 97% of the number of photoreceptors in the mouse retina, while the S-cones increased only 2-fold in the rd7 retina [34].”
Background(2009) · PubMed Central
Genetic Variations Strongly Influence Phenotypic Outcome in the Mouse Retina
Jelcick, A. S., Yuan, Y., Leehy, B. D., Cox, L. C., Silveira, A. C., Qiu, F., Schenk, S., Sachs, A. J., Morrison, M. A., Nystuen, A., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021858 · Cited by 31
“Immunohistochemistry was performed as previously described [73].”
Retinal Organoid Technology: Where Are We Now?
Zhang, Z., Xu, Z., Yuan, F., Jin, K., & Xiang, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221910244 · Cited by 30
“One of the common causative mutation genes is transcription factor NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3) that controls the terminal differentiation and maturation of rod cells [54,55].”
BackgroundPark, S. P., Hong, I. H., Tsang, S. H., Lee, W., Horowitz, J., Yzer, S., Allikmets, R. L., & Chang, S. (2013) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-013-2296-5 · Cited by 29
“model (NR2E3), which harbors a deletion in NR2E3 [9, 29].”
BackgroundLight, lipids and photoreceptor survival: live or let die?
German, O. L., Agnolazza, D. L., Politi, L. E., & Rotstein, N. P. (2015) · Photochemical & Photobiological Sciences · doi:10.1039/c5pp00194c · Cited by 31
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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