Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene

Molecular Vision

Volumn 14, Issue , 2008, Pages 1549-1558

  Lesch, Balász ^a   Szabó, Viktória ^a   Kánya, Melinda ^a,b   Varsányi, Balázs ^a   Somfai, Gábor M ^a   Hargitai, János ^a   Vámos, Rita ^a   Fiedler, Orsolya ^a   Farkas, Ágnes ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b OBIK Medical Biotechnology Innovation Center Inc   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; DISCOIDIN; DNA; ETHYLNITROSOUREA; GUANINE; PROTEIN RS1; RETINOSCHISIN PROTEIN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; B WAVE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DIZYGOTIC TWINS; DNA FLANKING REGION; DNA SEQUENCE; ELECTRORETINOGRAPHY; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; HETEROZYGOTE; HUMAN; HUNGARY; INTRON; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OPHTHALMOLOGY; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA BIPOLAR GANGLION CELL; RETINA FOVEA; RETINOSCHISIS; SCHOOL CHILD; X CHROMOSOME RECESSIVE DISORDER;

ADULT; ANIMALS; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EUROPEAN CONTINENTAL ANCESTRY GROUP; EYE PROTEINS; FAMILY; FEMALE; FUNDUS OCULI; HETEROZYGOTE; HUMANS; HUNGARY; MALE; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RETINOSCHISIS; RNA SPLICE SITES; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 50949087685     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997; 17:164-70.
2. Wang T, Waters CT, Rothman AM, Jakins TJ, Römisch K, Trump D. Intracellular retention of mutant retinoschisin is the pathological mechanism underlaying X-linked retinoschisis. Hum Mol Genet 2002; 11:3097-105.
3. Gass JDM. Stereoscopic atlas of macular diseases. 4th edition. St Louis: C.V. Mosby; 1997:372-6.
4. McKibbin M, Booth AP, George NDL. Foveal ectopia in X-linked retinoschisis. Retina 2001; 21:361-6.
5. Ozdemir H, Karacorlu S, Karacorlu M. Optical coherence tomography findings in familial foveal retinoschisis. Am J Ophthalmol 2004; 137:179-81.
6. Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA. X-linked retinoschisis: A clinical and molecular genetic review. Surv Ophthalmol 2004; 49:214-30.
7. Mooy CM, van den Born LI, Baarsma S, Paridaens DA, Kraaijenbrink T, Bergen A, Weber BHF. Hereditary x-linked juvenile retinoschisis: A review of the role of Müller cells. Arch Ophthalmol 2002; 120:979-84.
8. Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet 2000; 9:1873-9.
9. Hiriyanna KT, Singh-Parikshak R, Bingham EL, Kemp JA, Ayyagari R, Yashar BM, Sieving PA. Searching for genotype-phenotype correlations in X-linked juvenile retinoschisis. In: Anderson RE, LaVail AM, Hollyfield JG, editors. New insights into retinal degenerative diseases. Proceedings of the 9th International Symposium on Retinal Degeneration; 2000 Oct 9-14; Durango, CO. New York: Kluwer Academic/Plenum Publishers; 2001. p. 45-53.
10. Sikkink SK, Biswas S, Parry NRA, Stanga PE, Trump D. X-linked retinoschisis: an update. J Med Genet 2007; 44:225-32.
11. Molday LL, Hicks D, Sauer CG, Weber BHF, Molday RS. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 2001; 42:816-25.
12. Takada Y, Fariss RN, Tanikawa A, Zeng Y, Carper D, Bush R, Sieving PA. A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation. Invest Ophthalmol Vis Sci 2004; 45:3302-12.
13. Shinoda K, Ohde H, Ishida S, Inoue M, Oguchi Y, Mashima Y. Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis. Graefes Arch Clin Exp Ophthalmol 2004; 242:561-5.
14. Wu WWH, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem 2003; 278:28139-46.
15. Wu WWH, Wong JP, Kast J, Molday RS. RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. J Biol Chem 2005; 280:10721-30.
16. Molday RS. Focus on molecules.: Retinoschisin (RS1). Exp Eye Res 2007; 84:227-8.
17. Apushkin MA, Fishman GA, Janowicz MJ. Correlation of optical coherence tomography findings with visual acuity and macula lesions in patients with X-linked retinoschisis. Ophthalmology 2005; 112:495-501.
18. Retinoschisis Consortium. Functional implications of the spectrum of the mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Hum Mol Genet 1998; 7:1185-92.
19. Gehrig A, Weber BH, Lorenz B, Andrassi M. First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. J Med Genet 1999; 36:932-4.
20. Eksandh LC, Ponjavic V, Ayyagari R, Bringham EL, Hiriyanna KT, Andreasson S, Ehinger B, Sieving PA. Phenotypic expression of juvenile X-linked retinoschisis in swedish families with different mutations in the XLRS1 gene. Arch Ophthalmol 2000; 118:1098-104.
21. Pimenides D, George ND, Yates JR, Bradshaw K, Roberts SA, Moore AT, Trump D. X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet 2005; 42:e35.
22. Jablonski MM, Dalke C, Wang X, Lu L, Manly KF, Pretsch W, Favor J, Pardue MT, Rinchik EM, Williams RW, Goldowitz D, Graw J. An ENU-induced mutation in Rslh causes disruption of retinal structure and function. Mol Vis 2005; 11:569-81.
23. Marmor MF, Holder GE, Seeliger MW, Yamamoto S. Standard for clinical electroretinography (2004 update). Doc Ophthalmol 2004; 108:107-14.
24. Marmor MF, Hood DC, Keating D, Kondo M, Seeliger MW, Miyake Y. Guidelines for basic multifocal electroretinography (mfERG). Doc Ophthalmol 2003; 106:105-15.
25. de Jong PT, Zrenner E, van Meel GJ, Keunen JE, van Norren D. Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon. Arch Ophthalmol 1991; 109:1104-8.
26. Celesia GG. Visual plasticity and its clinical applications. J Physiol Anthropol Appi Human Sci 2005; 24:23-7.
27. Prenner JL, Capone A, Ciaccia S, Takada Y, Sieving PA, Trese MT. Congenital X-linked retinoschisis classification system. Retina 2006; 26:S61-4.
28. Koh AHC, Hogg CR, Holder GE. The incidence of negative ERG in clinical practice. Doc Oplithalmol 2001; 102:19-30.
29. Weleber RG. The effect of age on human cone and rod ganzfeld electroretinograms. Invest Ophthalmol Vis Sci 1981; 20:392-9.
30. Kergoat K Kergoat M-J, Justino L. Age-Related Changes in the Flash Electroretinogram and Oscillatory Potentials in Individuals Age 75 and Older. J Am Geriatr Soc 2001; 49:1212-7.
31. Piao CH, Kondo M, Nakamura M, Terasaki H, Miyake Y. Multifocal electroretinograms in X-linked retinoschisis. Invest Ophthalmol Vis Sci 2003; 44:4920-30.
32. Reid SN, Yamashita C, Farber DB. Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and Müller cells. J Neurosci 2003; 23:6030-40.
33. Wessagowit V, Nalla VK, Rogan PK, McGrath JA. Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases. J Dermatol Sci 2005; 40:73-84.
34. Byers PH. Killing the messenger: new insights into nonsensemediated mRNA decay. J Clin Invest 2002; 109:3-6.
35. Min SH, Molday LL, Seeliger MW, Dinculescu A, Timmers AM, Janssen A, Tonagel F, Tanimoto N, Weber BHF, Molday RS, Hauswirth WW. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of X-linked juvenile retinoschisis. Mol Ther 2005; 12:644-51.