Genomes and Genes
Gene Symbol: Rs1
Description: retinoschisis (X-linked, juvenile) 1 (human)
Alias: Rs1h, Xlrs1, tmgc1, retinoschisin, X-linked juvenile retinoschisis protein homolog, retinoschisis 1 homolog
- Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cellsSilvia N M Reid
Jules Stein Eye Institute, University of California Los Angeles School of Medicine, Center for the Health Sciences, Los Angeles, California 90095 7008, USA
J Neurosci 23:6030-40. 2003..Here we describe a nonsynaptic interaction via a secreted protein, retinoschisin. Using in situ hybridization, we found that from early postnatal life retinoschisin mRNA is present only in ..
- An ENU-induced mutation in Rs1h causes disruption of retinal structure and functionMonica M Jablonski
Department of Ophthalmology, University of Tennessee Health Science Center and Tennessee Mouse Genome Consortium, Memphis, TN, USA
Mol Vis 11:569-81. 2005..Herein we present its retinal phenotype and genetic basis...
- Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retinaGökhan Tolun
Laboratory for Structural Biology Research, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 Molecular Control and Genetics Section, Gene Regulation and Chromosome Biology Laboratory, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD 21702
Proc Natl Acad Sci U S A 113:5287-92. 2016b>Retinoschisin (RS1) is involved in cell-cell junctions in the retina, but is unique among known cell-adhesion proteins in that it is a soluble secreted protein...
- Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1B Brunner
Max Planck Institute for Molecular Genetics, D 14195 Berlin Dahlem, Germany
Genome Res 9:437-48. 1999..Sequencing of 68 kb of Fugu genomic DNA identified nine genes in the following order: (SCML2)-STK9, XLRS1, PPEF-1, KELCH2, KELCH1, PHKA2, AP19, and U2AF1-RS2...
- Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocationLucia Ziccardi
G B Bietti Foundation, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, 00198, Rome, Italy
Adv Exp Med Biol 801:559-66. 2014..Loss- of- expression of the retina specific cell surface protein, retinoschsin (Rs1-KO), led to a dramatic 3-10 fold increase, depending on age, in the luminance threshold for transducin ..
- RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked RetinoschisisYong Zeng
National Institute on Deafness and Other Communication Disorders, Bethesda, MD 20892, USA
Invest Ophthalmol Vis Sci 45:3279-85. 2004..a mouse model of human X-linked juvenile retinoschisis (XLRS) and then investigate whether supplementing with the retinoschisin protein by gene delivery can reverse the abnormal "electronegative" electroretinogram (ERG) retinal response.
- Dap12 expression in activated microglia from retinoschisin-deficient retina and its PU.1-dependent promoter regulationKarin Weigelt
Institute of Human Genetics, University of Regensburg, University of Regensburg, Franz Josef Strauss Allee 11, 93053 Regensburg, Germany
J Leukoc Biol 82:1564-74. 2007..in the expression of immune-related transcripts were identified recently in the degenerating retina of the retinoschisin knockout (Rs1h(-/Y)) mouse, including the strong expression of the adaptor protein Dap12...
- In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibitionAhmad Zhour
Centre for Ophthalmology, University of Tubingen, Schleichstr, 12 16, 72076 Tubingen, Germany
Vet Ophthalmol 15:123-33. 2012..XLRS) is the most common juvenile maculopathy in men and is caused by mutations in the gene encoding retinoschisin (RS1)...
- Loss of retinoschisin (RS1) cell surface protein in maturing mouse rod photoreceptors elevates the luminance threshold for light-driven translocation of transducin but not arrestinLucia Ziccardi
G B Bietti Foundation, Istituto di Ricovero e Cura a Carattere Scientifico, 00198 Rome, Italy
J Neurosci 32:13010-21. 2012Loss of retinoschisin (RS1) in Rs1 knock-out (Rs1-KO) retina produces a post-photoreceptor phenotype similar to X-linked retinoschisis in young males...
- Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene deliveryYuichiro Takada
Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA
Invest Ophthalmol Vis Sci 49:3677-86. 2008At an early age, the retinoschisin knockout (Rs1-KO) mouse retina has progressive photoreceptor degeneration with severe disruption of the outer plexiform layer (OPL) that decreases at older ages...
- Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regionsDominik Kraus
Institute of Human Genetics, University of Regensburg, Germany
Biochim Biophys Acta 1809:245-54. 2011X-linked juvenile retinoschisis (XLRS) is an orphan retinal disease in males caused by mutations in the RS1 gene...
- DICER1 deficit induces Alu RNA toxicity in age-related macular degenerationHiroki Kaneko
Department of Ophthalmology and Visual Sciences, University of Kentucky, Lexington, Kentucky 40506, USA
Nature 471:325-30. 2011..These findings reveal a miRNA-independent cell survival function for DICER1 involving retrotransposon transcript degradation, show that Alu RNA can directly cause human pathology, and identify new targets for a major cause of blindness...
- The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisisUlrike Friedrich
Institute of Human Genetics, University of Regensburg, Franz Josef Strauss Allee 11, 93053 Regensburg, Germany
Hum Mol Genet 20:1132-42. 2011Mutations in the RS1 gene that encodes the discoidin domain containing retinoschisin cause X-linked juvenile retinoschisis (XLRS), a common macular degeneration in males...
- Tyrosinase is the modifier of retinoschisis in miceBritt A Johnson
Department of Medical Genetics, University of Wisconsin, Madison, WI 53706, USA
Genetics 186:1337-44. 2010..This disease is caused by mutations in the retinoschisin (RS1) gene...
- The novel activated microglia/macrophage WAP domain protein, AMWAP, acts as a counter-regulator of proinflammatory responseMarcus Karlstetter
Institute of Human Genetics, University of Regensburg, Regensburg, The Netherlands
J Immunol 185:3379-90. 2010..involved in microglial activation, we used DNA-microarray analysis of retinal microglia from wild-type and retinoschisin-deficient (Rs1h(-/Y)) mice, a prototypic model for inherited retinal degeneration...
- Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy studySvetlana Kotova
LBPS, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, Maryland 20892, USA
Biochemistry 49:7023-32. 2010b>Retinoschisin (RS1) is a retina-specific secreted protein encoding a conserved discoidin domain sequence. As an adhesion molecule, RS1 preserves the retinal cell architecture and promotes visual signal transduction...
- Docosahexaenoic acid attenuates microglial activation and delays early retinal degenerationStefanie Ebert
Institute of Human Genetics, University of Regensburg, Regensburg, Germany
J Neurochem 110:1863-75. 2009..We performed a detailed characterization of activated microglia in the retinoschisin (Rs1h)-deficient (Rs1h(-/Y)) mouse model of inherited retinal degeneration...
- The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisisGabriel Luna
Neuroscience Research Institute, University of California Santa Barbara, Santa Barbara, CA 93106 5060, USA
Invest Ophthalmol Vis Sci 50:3977-84. 2009To determine the cellular consequences of retinal detachment in retinoschisin knockout (Rs1-KO) mice, a model for retinoschisin in humans.
- In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomographyJing Xu
School of Engineering Science, Simon Fraser University, Burnaby, British Columbia, Canada
Invest Ophthalmol Vis Sci 50:2989-93. 2009The purpose of this study was to investigate Fourier domain optical coherence tomography (FD OCT) as a noninvasive tool for retinal imaging in the Rs1h-knockout mouse (model for X-linked juvenile retinoschisis).
- Induction of STAP-1 promotes neurotoxic activation of microgliaKatharina Stoecker
Institute of Human Genetics, University of Regensburg, Regensburg, Germany
Biochem Biophys Res Commun 379:121-6. 2009..we have previously identified up-regulation of several immune-related genes in the dystrophic retina of retinoschisin-deficient (Rs1h(-/Y)) mice...
- Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 geneBalázs Lesch
Department of Ophthalmology, Semmelweis University, Budapest, Hungary
Mol Vis 14:1549-58. 2008..of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. Our genetic results were compared to a mouse model of XLRS.
- The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptorsS N Reid
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA 90095, USA
Gene 227:257-66. 1999..and amino acid sequences, as well as chromosome mapping, we determined that this gene is the mouse ortholog (Xlrs1) of the human X-linked juvenile retinoschisis gene (XLRS1)...
- Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisisBritt A Johnson
Department of Medical Genetics, University of Wisconsin, Madison, Wisconsin 53706, USA
Genetics 178:1785-94. 2008X-linked retinoschisis (XLRS) is an inherited form of macular degeneration that is caused by mutations in the retinoschisin (RS1) gene...
- Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complexLaurie L Molday
Department of Biochemistry and Molecular Biology, Centre for Macular Research, University of British Columbia, Vancouver, British Columbia, Canada
J Biol Chem 282:32792-801. 2007b>Retinoschisin or RS1 is a discoidin domain-containing protein encoded by the gene responsible for X-linked retinoschisis (XLRS), an early onset macular degeneration characterized by a splitting of the retina...
- Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degenerationSten Kjellstrom
National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA
Invest Ophthalmol Vis Sci 48:3837-45. 2007The authors characterized the natural history of a retinoschisin gene knockout (Rs1h-KO) mouse model and evaluated the long-term effects of retinal rescue after AAV(2/2)-CMV-Rs1h gene delivery.
- Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cationsCamasamudram Vijayasarathy
Section for Translational Research in Retinal and Macular Degeneration STRRMD, National Institute on Deafness and Other Communication Disorders NIDCD, National Institutes of Health, Bethesda, Maryland, USA
Invest Ophthalmol Vis Sci 48:991-1000. 2007b>Retinoschisin (RS) is a retina-specific, secreted protein implicated in X-linked juvenile retinoschisis and essential for the structural and functional integrity of the retina...
- Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h geneBritt A Johnson
Department of Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin 53706, USA
Vis Neurosci 23:887-98. 2006..of the retinal synaptic phenotypes caused by a splice site mutation in the murine RS1 homolog (Rs1h(tmgc1))...
- Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse developmentAndrea Gehrig
Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany
Invest Ophthalmol Vis Sci 48:891-900. 2007The Rs1h knockout mouse displays retinal features typical for X-linked juvenile retinoschisis (RS). Consequently, this mouse line represents an excellent model to study early molecular events in RS.
- Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockoutYuichiro Takada
National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
Mol Vis 12:1108-16. 2006..Recent expressed tag sequence (EST) analysis showed that several gene mutations, including RS1, which cause retinal degeneration, are also expressed in the pineal gland...
- The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouseA Gehrig
Institute of Human Genetics, University of Regensburg, Regensburg, Germany
Cytogenet Genome Res 115:35-44. 2006..bipolar cell layer accompanied by progressive loss of cone and rod photoreceptor cells are the hallmark of the retinoschisin-deficient (Rs1h(-/Y)) murine retina...
- Identification and characterization of two mature isoforms of retinoschisin in murine retinaCamasamudram Vijayasarathy
Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
Biochem Biophys Res Commun 349:99-105. 2006b>Retinoschisin (RS) is a 24 kDa secreted protein expressed in retina and is required for the structural and functional integrity of the retina...
- Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structureBernhard H F Weber
Institute of Human Genetics, Biocenter, University of Wurzburg, D 97074 Wurzburg, Germany
Proc Natl Acad Sci U S A 99:6222-7. 2002Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males...
- Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye developmentL C Bibb
Section of Cell and Molecular Biology, Imperial College School of Medicine, Sir Alexander Fleming Building, Exhibition Road, London SW7 2AZ, UK
Hum Mol Genet 10:1571-9. 2001..These data support concerns about the extent to which we can extrapolate from rodent models regarding embryonic development and disease pathophysiology...
- Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) geneA E Gehrig
Institut fur Humangenetik, Biozentrum, Am Hubland, Universitat Wurzburg, 97074 Wurzburg, Germany
Mamm Genome 10:303-7. 1999..RS1 function in early eye development, we now report the identification and characterization of the complete murine Rs1h gene...
- Proteomic Analysis of the RetinaMONICA JABLONSKI; Fiscal Year: 2007..These studies will also generate the framework for future project periods in which the precise molecular mechanisms and detailed pathways that control photoreceptor outer segment assembly will be determined. [unreadable] [unreadable]..