Biology of retinoschisin

Advances in Experimental Medicine and Biology

Volumn 723, Issue , 2012, Pages 513-518

  Vijayasarathy, Camasamudram ^a   Ziccardi, Lucia ^b   Sieving, Paul A ^c  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b IRCCS FONDAZIONE BIETTI   (Italy)

^c NATIONAL EYE INSTITUTE   (United States)

Author keywords

Bipolar Cells; Discoidin Domain; Gene Therapy; Mutations; Photoreceptors; Retina; Retinoschisin; Synapse; X Linked Retinoschisis

Indexed keywords

RETINOSCHISIN;

CONFERENCE PAPER; GENE; GENE MUTATION; GENE THERAPY; HUMAN; MOLECULAR PATHOLOGY; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN STRUCTURE; RETINOSCHISIS; RS1 GENE; VIRAL GENE DELIVERY SYSTEM; X LINKED RETINOSCHISIS;

ANIMALS; CELL ADHESION MOLECULES; DISEASE MODELS, ANIMAL; EYE PROTEINS; GENE THERAPY; HUMANS; MICE; MICE, KNOCKOUT; RETINOSCHISIS;

EID: 84855929951     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-0631-0_64     Document Type: Conference Paper

References (37)

1. Bradshaw K, George N, Moore A et al (1999) Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG. Doc Ophthalmol 98:153-173 (Pubitemid 30458365)
2. Galli-Resta L, Leone P, Bottari D et al (2008) The genesis of retinal architecture: an emerging role for mechanical interactions? Prog Retin Eye Res 27:260-283
3. George ND, Yates JR, Moore AT (1996) Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 114:274-280 (Pubitemid 26086732)
4. Hiriyanna KT, Singh-Parikshak R, Bingham EL et al (2001) Searching for genotype-phenotype correlations in X-linked juvenile retinoschisis. In: New Insights Into Retinal Degenerative Diseases. (Anderson RE LVM, Hollyfield JG, ed), pp 45-53. New York: : Plenum Publishers
5. Jablonski MM, Dalke C, Wang X et al (2005) An ENU-induced mutation in Rs1h causes disruption of retinal structure and function. Mol Vis 11:569-581 (Pubitemid 41410219)
6. Janssen A, Min SH, Molday LL et al (2008) Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse. Mol Ther 16:1010-1017 (Pubitemid 351737064)
7. Johnson BA, Ikeda S, Pinto LH, Ikeda A (2006) Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Vis Neurosci 23:887-898 (Pubitemid 46456695)
8. Johnson BA, Cole BS, Geisert EE, et al. (2010) Tyrosinase is the modifier of retinoschisis in mice. Genetics 186:1337-1344
9. Khan NW, Jamison JA, Kemp JA et al (2001) Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vision Res 41:3931-3942 (Pubitemid 34015857)
10. Kjellstrom S, Bush RA, Zeng Y et al (2007) Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci 48:3837-3845 (Pubitemid 351261125)
11. Kotova S, Vijayasarathy C, Dimitriadis EK et al (2010) Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study. Biochemistry 49:7023-7032
12. Lesch B, Szabo V, Kanya M et al (2008) Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Mol Vis 14:2321-2332
13. Molday LL, Wu WW, Molday RS (2007) 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 282:32792-32801 (Pubitemid 350159297)
14. Molday LL, Hicks D, Sauer CG et al (2001) Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 42:816-825 (Pubitemid 32206926)
15. Mooy CM, Van Den Born LI, Baarsma S et al (2002) Hereditary X-linked juvenile retinoschisis: a review of the role of Muller cells. Arch Ophthalmol 120:979-984 (Pubitemid 34755556)
16. Park TK, Wu Z, Kjellstrom S et al (2009) Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse. Gene Ther 16:916-926
17. Pimenides D, George ND, Yates JR et al (2005) X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet 42:e35
18. Reid SN, Yamashita C, Farber DB (2003) Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells. J Neurosci 23:6030-6040 (Pubitemid 36859441)
19. Rodriguez FJ, Rodriguez A, Mendoza-Londono R et al (2005) X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation. Retina 25:69-74 (Pubitemid 40250411)
20. Sauer CG, Gehrig A, Warneke-Wittstock R et al (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 17:164-170 (Pubitemid 27425948)
21. Sergeev YV, Caruso RC, Meltzer MR et al (2010) Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. Hum Mol Genet 27:27
22. Shi L, Jian K, Ko ML et al (2009) Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina. J Biol Chem 284:3966-3975
23. Sikkink SK, Biswas S, Parry NR et al (2007) X-linked retinoschisis: an update. J Med Genet 44:225-232 (Pubitemid 46596435)
24. Steiner-Champliaud MF, Sahel J, Hicks D (2006) Retinoschisin forms a multi-molecular complex with extracellular matrix and cytoplasmic proteins: interactions with beta2 laminin and alphaBcrystallin. Mol Vis 12:892-901 (Pubitemid 351565805)
25. Takada Y, Vijayasarathy C, Zeng Y et al (2008) Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Invest Ophthalmol Vis Sci 49:3677-3686
26. Takada Y, Fariss RN, Muller M, Bush RA, Rushing EJ, Sieving PA (2006) Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout. Mol Vis 12:1108-1116 (Pubitemid 44480569)
27. Takada Y, Fariss RN, Tanikawa A et al (2004) A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation. Invest Ophthalmol Vis Sci 45:3302-3312 (Pubitemid 39121870)
28. Tantri A, Vrabec TR, Cu-Unjieng A et al (2004) X-linked retinoschisis: a clinical and molecular genetic review. Surv Ophthalmol 49:214-230 (Pubitemid 38296502)
29. Vijayasarathy C, Takada Y, Zeng Y et al (2007) Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. Invest Ophthalmol Vis Sci 48:991-1000 (Pubitemid 351261387)
30. Vijayasarathy C, Gawinowicz MA, Zeng Y et al (2006) Identification and characterization of two mature isoforms of retinoschisin in murine retina. Biochem Biophys Res Commun 349:99-105 (Pubitemid 44331768)
31. Vijayasarathy C, Ziccardi L, Zeng Y et al (2009) Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study. Invest Ophthalmol Vis Sci 50:5375-5383
32. Vijayasarathy C, Sui R, Zeng Y, et al (2010) Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Hum Mutat 31:1251-1260
33. Wang T, Zhou A, Waters CT, O'Connor E et al (2006) Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. Br J Ophthalmol 90:81-86 (Pubitemid 43029902)
34. Weber BH, Schrewe H, Molday LL et al (2002) 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 USA 99:6222-6227 (Pubitemid 34493293)
35. Wu WW, Molday RS (2003) Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem 278:28139-28146 (Pubitemid 36900012)
36. Wu WW, Wong JP, Kast J, Molday RS (2005) RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. J Biol Chem 280:10721-10730 (Pubitemid 40395934)
37. Zeng Y, Takada Y, Kjellstrom S et al (2004) 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 45:3279-3285 (Pubitemid 39121867)