Tyrosinase is the modifier of retinoschisis in mice

Genetics

Volumn 186, Issue 4, 2010, Pages 1337-1344

  Johnson, Britt A ^a,c   Cole, Brian S ^a   Geisert, Eldon E ^b   Ikeda, Sakae ^a   Ikeda, Akihiro ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MONOPHENOL MONOOXYGENASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 7; CONTROLLED STUDY; DNA MODIFICATION; FEMALE; GENE; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; MALE; MOLECULAR CLONING; MOR1 GENE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROGENY; RETINOSCHISIS;

ANIMALS; CELL ADHESION; CHROMOSOME MAPPING; CHROMOSOMES; EYE PROTEINS; HOMOZYGOTE; MICE; MONOPHENOL MONOOXYGENASE; MUTATION; RETINOSCHISIS;

MUS;

EID: 79251554372     PISSN: 00166731     EISSN: 00166731     Source Type: Journal    
DOI: 10.1534/genetics.110.120840     Document Type: Article

References (42)

1. BAUMGARTNER, S., K. HOFMANN, R. CHIQUET-EHRISMANN and P. BUCHER, 1998 The discoidin domain family revisited: new members from prokaryotes and a homology-based fold prediction. Protein Sci. 7: 1626-1631.
2. CHANG, B., J. R. HECKENLIVELY, P. R. BAYLEY, N. C. BRECHA, M. T. DAVISSON et al., 2006 The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis. Neurosci. 23: 11-24.
3. DICK, O., S. TOM DIECK, W. D. ALTROCK, J. AMMERMULLER, R. WEILER et al., 2003 The presynaptic active zone protein bassoon is essential for photoreceptor ribbon synapse formation in the retina. Neuron 37: 775-786.
4. EKSANDH, L. C., V. PONJAVIC, R. AYYAGARI, E. L. BINGHAM, K. T. HIRIYANNA et al., 2000 Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Arch. Ophthalmol. 118: 1098-1104.
5. GEORGE, N. D., J. R. YATES and A. T. MOORE, 1995 X linked retinoschisis. Br. J. Ophthalmol. 79: 697-702.
6. GEORGE, N. D., J. R. YATES and A. T. MOORE, 1996 Clinical features in affected males with X-linked retinoschisis. Arch. Ophthalmol. 114: 274-280.
7. HAESELEER, F., Y. IMANISHI, T. MAEDA, D. E. POSSIN, A. MAEDA et al., 2004 Essential role of Ca21-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. Nat. Neurosci. 7: 1079-1087.
8. HUOPANIEMI, L., J. FELLMAN, A. RANTALA, A. ERIKSSON, H. FORSIUS et al., 1999 Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene. Ann. Hum. Genet. 63: 521-533.
9. ITO, S., 2003 The IFPCS presidential lecture: a chemist's view of melanogenesis. Pigment Cell Res. 16: 230-236.
10. JABLONSKI, M. M., C. DALKE, X. WANG, L. LU, K. F. MANLY et al., 2005a An ENU-induced mutation in Rs1h causes disruption of retinal structure and function. Mol. Vis. 11: 569-581.
11. JABLONSKI, M. M., X. WANG, L. LU, D. R. MILLER, E. M. RINCHIK et al., 2005b The Tennessee Mouse Genome Consortium: identification of ocular mutants. Vis. Neurosci. 22: 595-604.
12. JOHNSON, B. A., S. IKEDA, L. H. PINTO and A. IKEDA, 2006 Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Vis. Neurosci. 23: 887-898.
13. JOHNSON, B. A., N. AOYAMA, N. H. FRIEDELL, S. IKEDA and A. IKEDA, 2008 Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis. Genetics 178: 1785-1794.
14. KJELLSTROM, S., R. A. BUSH, Y. ZENG, Y. TAKADA and P. A. SIEVING, 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.
15. KUBRUSLY, R. C., M. Z. GUIMARAES, A. P. VIEIRA, J. N. HOKOC, D. E. CASARINI et al., 2003 L-DOPA supply to the neuro retina activates dopaminergic communication at the early stages of embryonic development. J. Neurochem. 86: 45-54.
16. Le Fur, N., S. R. Kelsall and B. Mintz, 1996 Base substitution at different alternative splice donor sites of the tyrosinase gene in murine albinism. Genomics 37: 245-248. (Pubitemid 26360901)
17. LEWIS, G. P., and S. K. FISHER, 2003 Up-regulation of glial fibrillary acidic protein in response to retinal injury: its potential role in glial remodeling and a comparison to vimentin expression. Int. Rev. Cytol. 230: 263-290.
18. LIBBY, R. T., R. S. SMITH, O. V. SAVINOVA, A. ZABALETA, J. E. MARTIN et al., 2003 Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science 299: 1578-1581.
19. LYUBARSKY, A. L., L. L. DANIELE and E. N. PUGH, JR., 2004 From candelas to photoisomerizations in the mouse eye by rhodopsin bleaching in situ and the light-rearing dependence of the major components of the mouse ERG. Vision Res. 44: 3235-3251.
20. MANSERGH, F., N. C. ORTON, J. P. VESSEY, M. R. LALONDE, W. K. STELL et al., 2005 Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Hum. Mol. Genet. 14: 3035-3046.
21. MOLDAY, L. L., D. HICKS, C. G. SAUER, B. H. WEBER and R. S. MOLDAY, 2001 Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest. Ophthalmol. Vis. Sci. 42: 816-825.
22. MOLDAY, L. L., W. W. WU and R. S. MOLDAY, 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.
23. MORGANS, C. W., P. R. BAYLEY, N. W. OESCH, G. REN, L. AKILESWARAN et al., 2005 Photoreceptor calcium channels: insight from night blindness. Vis. Neurosci. 22: 561-568.
24. OETTING, W. S., 1999 Albinism. Curr. Opin. Pediatr. 11: 565-571.
25. PAGE-MCCAW, P. S., S. C. CHUNG, A. MUTO, T. ROESER, W. STAUB et al., 2004 Retinal network adaptation to bright light requires tyrosinase. Nat. Neurosci. 7: 1329-1336.
26. PEACHEY, N. S., G. A. FISHMAN, D. J. DERLACKI and M. G. BRIGELL, 1987 Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch. Ophthalmol. 105: 513-516.
27. PIMENIDES, D., N. D. GEORGE, J. R. YATES, K. BRADSHAW, S. A. ROBERTS et al., 2005 X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J. Med. Genet. 42: e35.
28. PINTO, L. H., B. INVERGO, K. SHIMOMURA, J. S. TAKAHASHI AND J. B. TROY, 2007 Interpretation of the mouse electroretinogram. Doc. Ophthalmol. 115: 127-136.
29. REID, S. N., N. B. AKHMEDOV, N. I. PIRIEV, C. A. KOZAK, M. DANCIGER et al., 1999 The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. Gene 227: 257-266.
30. REIS, R. A., A. L. VENTURA, R. C. KUBRUSLY, M. C. DE MELLO and F. G. DE MELLO, 2007 Dopaminergic signaling in the developing retina. Brain Res. Rev. 54: 181-188.
31. RETINOSCHISIS CONSORTIUM, 1998 Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum. Mol. Genet. 7: 1185-1192.
32. RUSSELL-EGGITT, I., 2001 Albinism. Ophthalmol. Clin. North Am. 14: 533-546.
33. SAUER, C. G., A. GEHRIG, R. WARNEKE-WITTSTOCK, A. MARQUARDT, C. C. EWING et al., 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat. Genet. 17: 164-170.
34. SEIVING, P., 1998 Juvenile retinoschisis, pp. 347-356 in Genetic Diseases of the Eye, edited by E. Traboulsi. Oxford University Press, New York.
35. SERGEEV, Y. V., R. C. CARUSO, M. R. MELTZER, N. SMAOUI, I. M. MACDONALD et al., 2010 Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. Hum. Mol. Genet. 19: 1302-1313.
36. SHI, L., K. JIAN, M. L. KO, D. TRUMP and G. Y. KO, 2009 Retinoschisin, a new binding partner for L-type voltage-gated calciumchannels in the retina. J. Biol. Chem. 284: 3966-3975.
37. TAKADA, Y., R. N. FARISS, A. TANIKAWA, Y. ZENG, D. CARPER 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.
38. TAKADA, Y., R. N. FARISS, M. MULLER, R. A. BUSH, E. J. RUSHING et al., 2006 Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout. Mol. Vis. 12: 1108-1116.
39. TAKADA, Y., C. VIJAYASARATHY, Y. ZENG, S. KJELLSTROM, R. A. BUSH 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.
40. TIBBER, M. S., A. V. WHITMORE and G. JEFFERY, 2006 Cell division and cleavage orientation in the developing retina are regulated by L-DOPA. J. Comp. Neurol. 496: 369-381.
41. VIDAL, L., F. DIAZ, A. VILLENA, M. MORENO, J. G. CAMPOS et al., 2010 Reaction of Muller cells in an experimental rat model of increased intraocular pressure following timolol, latanoprost and brimonidine. Brain Res. Bull. 82: 18-24.
42. WU, W. W., and R. S. MOLDAY, 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.