Rs1

Summary

Gene Symbol: Rs1
Description: retinoschisis (X-linked, juvenile) 1 (human)
Alias: Rs1h, Xlrs1, tmgc1, retinoschisin, X-linked juvenile retinoschisis protein homolog, retinoschisis 1 homolog
Species: mouse

Top Publications

  1. ncbi Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells
    Silvia 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
  2. ncbi An ENU-induced mutation in Rs1h causes disruption of retinal structure and function
    Monica 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
  3. pmc Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina
    Gökhan 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. 2016
  4. pmc Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1
    B Brunner
    Max Planck Institute for Molecular Genetics, D 14195 Berlin Dahlem, Germany
    Genome Res 9:437-48. 1999
  5. pmc Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation
    Lucia 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
  6. ncbi RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis
    Yong Zeng
    National Institute on Deafness and Other Communication Disorders, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 45:3279-85. 2004
  7. ncbi Dap12 expression in activated microglia from retinoschisin-deficient retina and its PU.1-dependent promoter regulation
    Karin 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
  8. doi In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition
    Ahmad Zhour
    Centre for Ophthalmology, University of Tubingen, Schleichstr, 12 16, 72076 Tubingen, Germany
    Vet Ophthalmol 15:123-33. 2012
  9. pmc Loss of retinoschisin (RS1) cell surface protein in maturing mouse rod photoreceptors elevates the luminance threshold for light-driven translocation of transducin but not arrestin
    Lucia Ziccardi
    G B Bietti Foundation, Istituto di Ricovero e Cura a Carattere Scientifico, 00198 Rome, Italy
    J Neurosci 32:13010-21. 2012
  10. pmc Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery
    Yuichiro 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. 2008

Research Grants

  1. Proteomic Analysis of the Retina
    MONICA JABLONSKI; Fiscal Year: 2007

Scientific Experts

  • S N Reid
  • ROBERT MOLDAY
  • B Lesch
  • Monica M Jablonski
  • B H Weber
  • Paul A Sieving
  • Camasamudram Vijayasarathy
  • Ronald A Bush
  • Thomas Langmann
  • Yuichiro Takada
  • Yong Zeng
  • Britt A Johnson
  • Yana Walczak
  • Stefanie Ebert
  • Karin Weigelt
  • Lucia Ziccardi
  • Sten Kjellstrom
  • Marcus Karlstetter
  • Akihiro Ikeda
  • Sakae Ikeda
  • Laurie L Molday
  • Gökhan Tolun
  • Ahmad Zhour
  • Hiroki Kaneko
  • Daniela Hilfinger
  • Ulrike Friedrich
  • Dominik Kraus
  • Svetlana Kotova
  • Katharina Stoecker
  • Gabriel Luna
  • Thomas Loenhardt
  • Jing Xu
  • Andrea Gehrig
  • A Gehrig
  • J Bernard Heymann
  • Alasdair C Steven
  • Yan Li
  • Rick Huang
  • Eberhart Zrenner
  • L C Bibb
  • Andreas Schatz
  • Sylvia Bolz
  • M Dominik Fischer
  • Gabriel Willmann
  • Christian Grimm
  • David R Hinton
  • Katalin Kariko
  • Ying Song
  • Joshua L Dunaief
  • Alexander D Blandford
  • Jan M Provis
  • Won Gil Cho
  • Judit Z Baffi
  • Bradley D Gelfand
  • Jassir Witta
  • William W Hauswirth
  • Frank W Buaas
  • Ann H Milam
  • James A Goodrich
  • Yoshio Hirano
  • Romulo J C Albuquerque
  • Elaine Fuchs
  • Mark M W Chong
  • Benjamin J Fowler
  • Dan R Littman
  • Valeria Tarallo
  • Hans E Grossniklaus
  • Balamurali K Ambati
  • Heidi Stohr
  • Dong Ki Lee
  • Jae Wook Yoo
  • Sami Dridi
  • Gautam Chaudhuri
  • Smita Misra
  • Robert E Braun
  • Patrick Provost
  • Michele C Madigan
  • Jennifer F Kugel
  • Sasha Bogdanovich
  • Mark E Kleinman
  • Majda Hadziahmetovic
  • Vince A Chiodo
  • Jayakrishna Ambati
  • Qing Zhang
  • Steven L Ponicsan
  • Nikki L Justice
  • Charles M Rudin
  • Melitta Schachner
  • Emilios K Dimitriadis
  • Heinz Schwer

Detail Information

Publications36

  1. ncbi Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells
    Silvia 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 ..
  2. ncbi An ENU-induced mutation in Rs1h causes disruption of retinal structure and function
    Monica 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...
  3. pmc Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina
    Gökhan 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. 2016
    b>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...
  4. pmc Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1
    B 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...
  5. pmc Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation
    Lucia 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 ..
  6. ncbi RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis
    Yong 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.
  7. ncbi Dap12 expression in activated microglia from retinoschisin-deficient retina and its PU.1-dependent promoter regulation
    Karin 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...
  8. doi In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition
    Ahmad 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)...
  9. pmc Loss of retinoschisin (RS1) cell surface protein in maturing mouse rod photoreceptors elevates the luminance threshold for light-driven translocation of transducin but not arrestin
    Lucia Ziccardi
    G B Bietti Foundation, Istituto di Ricovero e Cura a Carattere Scientifico, 00198 Rome, Italy
    J Neurosci 32:13010-21. 2012
    Loss of retinoschisin (RS1) in Rs1 knock-out (Rs1-KO) retina produces a post-photoreceptor phenotype similar to X-linked retinoschisis in young males...
  10. pmc Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery
    Yuichiro 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. 2008
    At 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...
  11. doi Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regions
    Dominik Kraus
    Institute of Human Genetics, University of Regensburg, Germany
    Biochim Biophys Acta 1809:245-54. 2011
    X-linked juvenile retinoschisis (XLRS) is an orphan retinal disease in males caused by mutations in the RS1 gene...
  12. pmc DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration
    Hiroki 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...
  13. doi The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis
    Ulrike Friedrich
    Institute of Human Genetics, University of Regensburg, Franz Josef Strauss Allee 11, 93053 Regensburg, Germany
    Hum Mol Genet 20:1132-42. 2011
    Mutations in the RS1 gene that encodes the discoidin domain containing retinoschisin cause X-linked juvenile retinoschisis (XLRS), a common macular degeneration in males...
  14. pmc Tyrosinase is the modifier of retinoschisis in mice
    Britt 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...
  15. doi The novel activated microglia/macrophage WAP domain protein, AMWAP, acts as a counter-regulator of proinflammatory response
    Marcus 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...
  16. pmc Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study
    Svetlana Kotova
    LBPS, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, Maryland 20892, USA
    Biochemistry 49:7023-32. 2010
    b>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...
  17. doi Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration
    Stefanie 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...
  18. pmc The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis
    Gabriel Luna
    Neuroscience Research Institute, University of California Santa Barbara, Santa Barbara, CA 93106 5060, USA
    Invest Ophthalmol Vis Sci 50:3977-84. 2009
    To determine the cellular consequences of retinal detachment in retinoschisin knockout (Rs1-KO) mice, a model for retinoschisin in humans.
  19. pmc In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography
    Jing Xu
    School of Engineering Science, Simon Fraser University, Burnaby, British Columbia, Canada
    Invest Ophthalmol Vis Sci 50:2989-93. 2009
    The 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).
  20. doi Induction of STAP-1 promotes neurotoxic activation of microglia
    Katharina 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...
  21. pmc Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene
    Balázs 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.
  22. ncbi The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors
    S 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)...
  23. pmc Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis
    Britt A Johnson
    Department of Medical Genetics, University of Wisconsin, Madison, Wisconsin 53706, USA
    Genetics 178:1785-94. 2008
    X-linked retinoschisis (XLRS) is an inherited form of macular degeneration that is caused by mutations in the retinoschisin (RS1) gene...
  24. ncbi 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 complex
    Laurie 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. 2007
    b>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...
  25. ncbi Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration
    Sten Kjellstrom
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA
    Invest Ophthalmol Vis Sci 48:3837-45. 2007
    The 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.
  26. ncbi Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations
    Camasamudram 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. 2007
    b>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...
  27. ncbi Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene
    Britt 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))...
  28. ncbi Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development
    Andrea Gehrig
    Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany
    Invest Ophthalmol Vis Sci 48:891-900. 2007
    The 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.
  29. ncbi Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout
    Yuichiro 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...
  30. ncbi The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse
    A 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...
  31. pmc Identification and characterization of two mature isoforms of retinoschisin in murine retina
    Camasamudram 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. 2006
    b>Retinoschisin (RS) is a 24 kDa secreted protein expressed in retina and is required for the structural and functional integrity of the retina...
  32. pmc Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
    Bernhard 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. 2002
    Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males...
  33. ncbi Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development
    L 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...
  34. ncbi Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene
    A 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...

Research Grants1

  1. Proteomic Analysis of the Retina
    MONICA 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]..