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
Products:     Rs1

Top Publications

  1. Reid S, Yamashita C, Farber D. Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells. J Neurosci. 2003;23:6030-40 pubmed
    ..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. Jablonski M, Dalke C, Wang X, Lu L, Manly K, Pretsch W, et al. An ENU-induced mutation in Rs1h causes disruption of retinal structure and function. Mol Vis. 2005;11:569-81 pubmed
    ..Linkage analysis by PCR-based microsatellite marker genotyping was used to identify the disease locus. The Rs1h cDNA and its genomic DNA were sequenced directly...
  3. Johnson B, Cole B, Geisert E, Ikeda S, Ikeda A. Tyrosinase is the modifier of retinoschisis in mice. Genetics. 2010;186:1337-44 pubmed publisher
    ..This disease is caused by mutations in the retinoschisin (RS1) gene...
  4. Takada Y, Fariss R, Muller M, Bush R, Rushing E, Sieving P. Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout. Mol Vis. 2006;12:1108-16 pubmed
    ..Recent expressed tag sequence (EST) analysis showed that several gene mutations, including RS1, which cause retinal degeneration, are also expressed in the pineal gland...
  5. Weigelt K, Ernst W, Walczak Y, Ebert S, Loenhardt T, Klug M, et al. Dap12 expression in activated microglia from retinoschisin-deficient retina and its PU.1-dependent promoter regulation. J Leukoc Biol. 2007;82:1564-74 pubmed
    ..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...
  6. Luna G, Kjellstrom S, Verardo M, Lewis G, Byun J, Sieving P, et al. The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis. Invest Ophthalmol Vis Sci. 2009;50:3977-84 pubmed publisher
    To determine the cellular consequences of retinal detachment in retinoschisin knockout (Rs1-KO) mice, a model for retinoschisin in humans...
  7. Kjellstrom S, Bush R, Zeng Y, Takada Y, Sieving P. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci. 2007;48:3837-45 pubmed
    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...
  8. Bibb L, Holt J, Tarttelin E, Hodges M, Gregory Evans K, Rutherford A, et al. Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. Hum Mol Genet. 2001;10:1571-9 pubmed
    ..These data support concerns about the extent to which we can extrapolate from rodent models regarding embryonic development and disease pathophysiology. ..
  9. Ou J, Vijayasarathy C, Ziccardi L, Chen S, Zeng Y, Marangoni D, et al. Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer. J Clin Invest. 2015;125:2891-903 pubmed publisher
    ..by impaired visual signal transmission through the retina and progressive visual acuity loss, and mice lacking retinoschisin (RS1) recapitulate human disease...

More Information

Publications40

  1. Xu J, Molday L, Molday R, Sarunic M. In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. Invest Ophthalmol Vis Sci. 2009;50:2989-93 pubmed publisher
    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).
  2. Plössl K, Weber B, Friedrich U. The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. J Cell Mol Med. 2017;21:768-780 pubmed publisher
    ..The function of the encoded protein, termed retinoschisin, and the molecular mechanisms underlying XLRS pathogenesis are still unresolved, although a direct interaction ..
  3. Zhour A, Bolz S, Grimm C, Willmann G, Schatz A, Weber B, et al. In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition. Vet Ophthalmol. 2012;15 Suppl 2:123-33 pubmed publisher
    ..XLRS) is the most common juvenile maculopathy in men and is caused by mutations in the gene encoding retinoschisin (RS1)...
  4. Vijayasarathy C, Takada Y, Zeng Y, Bush R, Sieving P. Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. Invest Ophthalmol Vis Sci. 2007;48:991-1000 pubmed
    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...
  5. Stoecker K, Weigelt K, Ebert S, Karlstetter M, Walczak Y, Langmann T. Induction of STAP-1 promotes neurotoxic activation of microglia. Biochem Biophys Res Commun. 2009;379:121-6 pubmed publisher
    ..we have previously identified up-regulation of several immune-related genes in the dystrophic retina of retinoschisin-deficient (Rs1h(-/Y)) mice...
  6. Plössl K, Royer M, Bernklau S, Tavraz N, Friedrich T, Wild J, et al. Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. Mol Biol Cell. 2017;28:2178-2189 pubmed publisher
    ..We recently showed that retinoschisin, the protein encoded by RS1, regulates ERK signaling and apoptosis in retinal cells...
  7. Brunner B, Todt T, Lenzner S, Stout K, Schulz U, Ropers H, et al. Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1. Genome Res. 1999;9:437-48 pubmed
    ..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...
  8. Ebert S, Weigelt K, Walczak Y, Drobnik W, Mauerer R, Hume D, et al. Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration. J Neurochem. 2009;110:1863-75 pubmed publisher
    ..We performed a detailed characterization of activated microglia in the retinoschisin (Rs1h)-deficient (Rs1h(-/Y)) mouse model of inherited retinal degeneration...
  9. Lesch B, Szabo V, Kanya M, Varsanyi B, Somfai G, Hargitai J, et al. Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene. Mol Vis. 2008;14:1549-58 pubmed
    ..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...
  10. Ziccardi L, Vijayasarathy C, Bush R, Sieving P. Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation. Adv Exp Med Biol. 2014;801:559-66 pubmed publisher
    ..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 ..
  11. Johnson B, Aoyama N, Friedell N, Ikeda S, Ikeda A. Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis. Genetics. 2008;178:1785-94 pubmed publisher
    X-linked retinoschisis (XLRS) is an inherited form of macular degeneration that is caused by mutations in the retinoschisin (RS1) gene...
  12. Zeng Y, Petralia R, Vijayasarathy C, Wu Z, Hiriyanna S, Song H, et al. Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography. Invest Ophthalmol Vis Sci. 2016;57:OCT277-87 pubmed publisher
    ..the retinal phenotype, natural history, and treatment responses in a mouse model of X-linked retinoschisis (Rs1-KO) and to identify new structural markers of AAV8-mediated gene therapy outcome...
  13. Kraus D, Karlstetter M, Walczak Y, Hilfinger D, Langmann T, Weber B. Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regions. Biochim Biophys Acta. 2011;1809:245-54 pubmed publisher
    X-linked juvenile retinoschisis (XLRS) is an orphan retinal disease in males caused by mutations in the RS1 gene...
  14. Reid S, Akhmedov N, Piriev N, Kozak C, Danciger M, Farber D. The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. Gene. 1999;227:257-66 pubmed
    ..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)...
  15. Vijayasarathy C, Ziccardi L, Sieving P. Biology of retinoschisin. Adv Exp Med Biol. 2012;723:513-8 pubmed publisher
  16. Kaneko H, Dridi S, Tarallo V, Gelfand B, Fowler B, Cho W, et al. DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. Nature. 2011;471:325-30 pubmed publisher
    ..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. ..
  17. Gehrig A, Warneke Wittstock R, Sauer C, Weber B. Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. Mamm Genome. 1999;10:303-7 pubmed
    ..RS1 function in early eye development, we now report the identification and characterization of the complete murine Rs1h gene...
  18. Ziccardi L, Vijayasarathy C, Bush R, Sieving P. 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. J Neurosci. 2012;32:13010-21 pubmed
    Loss of retinoschisin (RS1) in Rs1 knock-out (Rs1-KO) retina produces a post-photoreceptor phenotype similar to X-linked retinoschisis in young males...
  19. Gehrig A, Janssen A, Horling F, Grimm C, Weber B. The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse. Cytogenet Genome Res. 2006;115:35-44 pubmed
    ..bipolar cell layer accompanied by progressive loss of cone and rod photoreceptor cells are the hallmark of the retinoschisin-deficient (Rs1h(-/Y)) murine retina...
  20. Takada Y, Vijayasarathy C, Zeng Y, Kjellstrom S, Bush R, Sieving P. Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Invest Ophthalmol Vis Sci. 2008;49:3677-86 pubmed publisher
    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...
  21. Friedrich U, Stohr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, et al. The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. Hum Mol Genet. 2011;20:1132-42 pubmed publisher
    Mutations in the RS1 gene that encodes the discoidin domain containing retinoschisin cause X-linked juvenile retinoschisis (XLRS), a common macular degeneration in males...
  22. Karlstetter M, Walczak Y, Weigelt K, Ebert S, Van den Brulle J, Schwer H, et al. The novel activated microglia/macrophage WAP domain protein, AMWAP, acts as a counter-regulator of proinflammatory response. J Immunol. 2010;185:3379-90 pubmed publisher
    ..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...
  23. Tolun G, Vijayasarathy C, Huang R, Zeng Y, Li Y, Steven A, et al. Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina. Proc Natl Acad Sci U S A. 2016;113:5287-92 pubmed publisher
    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...
  24. Weber B, Schrewe H, Molday L, Gehrig A, White K, Seeliger M, et al. Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc Natl Acad Sci U S A. 2002;99:6222-7 pubmed
    Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males...
  25. Gehrig A, Langmann T, Horling F, Janssen A, Bonin M, Walter M, et al. Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development. Invest Ophthalmol Vis Sci. 2007;48:891-900 pubmed
    ..Whole genome expression profiling using DNA-microarrays was performed on total RNA extracts from retinoschisin-deficient and wild-type murine retinas from postnatal days 7, 9, 11, and 14...
  26. Marangoni D, Yong Z, Kjellstrom S, Vijayasarathy C, A Sieving P, Bush R. Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome. Invest Ophthalmol Vis Sci. 2017;58:1656-1664 pubmed publisher
    To test the effects of rearing light intensity on retinal function and morphology in the retinoschisis knockout (Rs1-KO) mouse model of X-linked retinoschisis, and whether it affects functional outcome of RS1 gene replacement...
  27. Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, et al. 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. Invest Ophthalmol Vis Sci. 2004;45:3279-85 pubmed
    ..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 ..
  28. Kotova S, Vijayasarathy C, Dimitriadis E, Ikonomou L, Jaffe H, Sieving P. Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study. Biochemistry. 2010;49:7023-32 pubmed publisher
    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...
  29. Johnson B, Ikeda S, Pinto L, Ikeda A. Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Vis Neurosci. 2006;23:887-98 pubmed
    ..of the retinal synaptic phenotypes caused by a splice site mutation in the murine RS1 homolog (Rs1h(tmgc1))...
  30. Molday L, Wu W, Molday R. 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. J Biol Chem. 2007;282:32792-801 pubmed
    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...
  31. Vijayasarathy C, Gawinowicz M, Zeng Y, Takada Y, Bush R, Sieving P. Identification and characterization of two mature isoforms of retinoschisin in murine retina. Biochem Biophys Res Commun. 2006;349:99-105 pubmed
    b>Retinoschisin (RS) is a 24 kDa secreted protein expressed in retina and is required for the structural and functional integrity of the retina...