Inherited retinal dystrophy in Mer knockout mice

Advances in Experimental Medicine and Biology

Volumn 533, Issue , 2003, Pages 165-172

  Duncan, Jacque L ^a   Yang, Haidong ^a   Vollrath, Douglas ^b   Yasumura, Douglas ^a   Matthes, Michael T ^a   Trautmann, Nikolaus ^a   Chappelow, Aimee V ^a   Feng, Wei ^b   Earp, H Shelton ^c   Matsushima, Glenn K ^c   LaVail, Matthew M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b STANFORD UNIVERSITY   (United States)

^c UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MER; PROTEIN MERKT; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

ANIMAL MODEL; CELL NUCLEUS; CONFERENCE PAPER; ELECTRORETINOGRAM; KNOCKOUT MOUSE; MOUSE; NONHUMAN; PHAGOCYTOSIS; PHENOTYPE; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; RETINA; RETINA DYSTROPHY;

ANIMALIA;

EID: 0348162560     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-0067-4_21     Document Type: Conference Paper

References (36)

1. Bok, D., and Hall, M. O., 1971, The role of the pigment epithelium in the etiology of inherited retinal dystrophy in the rat, J Cell Biol. 49:664.
2. Bush, R. A., Hawks, K. W., and Sieving, P. A., 1995, Preservation of inner retinal responses in the aged Royal College of Surgeons rat. Evidence against glutamate excitotoxicity in photoreceptor degeneration, Invest Ophthalmol Vis Sci. 36:2054.
3. Chen, J., Carey, K., and Godowski, P. J., 1997, Identification of Gas6 as a ligand for Mer, a neural cell adhesion molecule related receptor tyrosine kinase implicated in cellular transformation, Oncogene. 14:2033.
4. D'Cruz, P. M., Yasumura, D., Weir, J., Matthes, M. T., Abderrahim, H., LaVail, M. M., and Vollrath, D., 2000, Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat, Hum Mol Genet. 9:645.
5. Dowling, J. E., and Sidman, R. L., 1962, Inherited retinal dystrophy in the rat, J Cell Biol. 14:73.
6. Feng, W., Yasumura, D., Matthes, M. T., LaVail, M. M., and Vollrath, D., 2002, Mertk triggers uptake of photoreceptor outer segments during phagocytosis by cultured retinal pigment epithelial cells, J Biol Chem. 277:17016.
7. Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., Jacobson, S. G., Apfelstedt-Sylla, E., and Vollrath, D., 2000, Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa, Nat Genet. 26:270.
8. Gu, S. M., Thompson, D. A., Srikumari, C. R., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., and Gal, A., 1997, Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy, Nat Genet. 17:194.
9. Herron, W. L., Riegel, B. W., Myers, O. E., and Rubin, M. L., 1969, Retinal dystrophy in the rat - a pigment epithelial disease, Invest Ophthalmol. 8:595.
10. Jacobson, S. G., Cideciyan, A. V., Regunath, G., Rodriguez, F. J., Vandenburgh, K., Sheffield, V. C., and Stone, E. M., 1995, Night blindness in Sorsby's fundus dystrophy reversed by vitamin A, Nat Genet. 11:27.
11. Kedzierski, W., Lloyd, M., Birch, D. G., Bok, D., and Travis, G. H., 1997, Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors, Invest Ophthalmol Vis Sci. 38:498.
12. LaVail, M. M., Sidman, R. L., and O'Neil, D., 1972, Photoreceptor- pigment epithelial cell relationships in rats with inherited retinal degeneration. Radioautographic and electron microscope evidence for a dual source of extra lamellar material, J Cell Biol. 53:185.
13. LaVail, M. M., and Battelle, B. A., 1975, Influence of eye pigmentation and light deprivation on inherited retinal dystrophy in the rat, Exp Eye Res. 21:167.
14. LaVail, M. M., 1981a, Photoreceptor characteristics in congenic strains of RCS rats, Invest Ophthalmol Vis Sci. 20:671.
15. LaVail, M. M., 1981b, Analysis of neurological mutants with inherited retinal degeneration. Friedenwald lecture, Invest Ophthalmol Vis Sci. 21:638.
16. LaVail, M. M., 2001, Legacy of the RCS rat: impact of a seminal study on retinal cell biology and retinal degenerative diseases, in: Progress in Brain Research, H. Kolb, H. Ripps, and S. Wu, ed., Elsevier Science, Paris. pp. 617.
17. Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., and Stone, E. M., 2000, Mutation analysis of 3 genes in patients with Leber congenital amaurosis, Arch Ophthalmol. 118:538.
18. Machida, S., Kondo, M., Jamison, J. A., Khan, N. W., Kononen, L. T., Sugawara, T., Bush, R. A., and Sieving, P. A., 2000, P23H rhodopsin transgenic rat: correlation of retinal function with histopathology, Invest Ophthalmol Vis Sci. 41:3200.
19. Marlhens, F., Bareil, C., Griffoin, J. M., Zrenner, E., Amalric, P., Eliaou, C., Liu, S. Y., Harris, E., Redmond, T. M., Arnaud, B., Claustres, M., and Hamel, C. P., 1997, Mutations in RPE65 cause Leber's congenital amaurosis, Nat Genet. 17:139.
20. Marmorstein, A. D., Marmorstein, L. Y., Raybora, M., Wang, X., Hollyfield, J. G., and Petrukhin, K., 2000, Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium, Proc Natl Acad Sci U S A. 97:12758.
21. Morimura, H., Fishman, G. A., Grover, S. A., Fulton, A. B., Berson, E. L., and Dryja, T. P., 1998, Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis, Proc Natl Acad Sci U S A. 95:3088.
22. Mullen, R. J., and LaVail, M. M., 1976, Inherited retinal dystrophy: primary defect in pigment epithelium determined with experimental rat chimeras, Science. 192:799.
23. Nagata, K., Ohashi, K., Nakano, T., Arita, H., Zong, C., Hanafusa, H., and Mizuno, K., 1996, Identification of the product of growth arrest-specific gene 6 as a common ligand for Axl, Sky, and Mer receptor tyrosine kinases, J Biol Chem. 271:30022.
24. Nishikawa, S., Cao, W., Yasumura, D., Matthes, M. T., Lau-Villacorta, C., Steinberg, R. H., and LaVail, M. M., 1997, Comparing the ERG to retinal morphology in transgenic rats with inherited degenerations caused by mutant opsin genes [ARVO Abstract], Invest Ophthalmol Vis Sci. 38:833. Abstract nr 1415.
25. Petrukhin, K., Koisti, M. J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., Vujic, M., Bergen, A. A., McGarty-Dugan, V., Figueroa, D., Austin, C. P., Metzker, M. L., Caskey, C. T., and Wadelius, C., 1998, Identification of the gene responsible for Best macular dystrophy, Nat Genet. 19:241.
26. Saszik, S. M., Robson, J. G., and Frishman, L. J., 2002, The scotopic threshold response of the dark-adapted electroretinogram of the mouse, J Physiol. 543:899.
27. Scott, R. S., McMahon, E. J., Pop, S. M., Reap, E. A., Caricchio, R., Cohen, P. L., Earp, H. S., and Matsushima, G. K., 2001, Phagocytosis and clearance of apoptotic cells is mediated by MER, Nature. 411:207.
28. Sieving, P. A., Frishman, L. J., and Steinberg, R. H., 1986, Scotopic threshold response of proximal retina in cat, J Neurophysiol. 56:1049.
29. Steinmetz, R. L., Polkinghorne, P. C., Fitzke, F. W., Kemp, C. M., and Bird, A. C., 1992, Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy, Invest Ophthalmol Vis Sci. 33:1633.
30. Strauss, O., Stumpff, F., Mergler, S., Wienrich, M., and Wiederholt, M., 1998, The Royal College of Surgeons rat: an animal model for inherited retinal degeneration with a still unknown genetic defect, Acta Anal. 162:101.
31. Sugawara, T., Sieving, P. A., and Bush, R. A., 2000, Quantitative relationship of the scotopic and photopic ERG to photoreceptor cell loss in light damaged rats, Exp Eye Res. 70:693.
32. Thompson, D. A., Gyurus, P., Fleischer, L. L., Bingham, E. L., McHenry, C. L., Apfelstedt-Sylla, E., Zrenner, E., Lorenz, B., Richards, J. E., Jacobson, S. G., Sieving, P. A., and Gal, A., 2000, Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration, Invest Ophthalmol Vis Sci. 41:4293.
33. Toda, K., Bush, R. A., Humphries, P., and Sieving, P. A., 1999, The electroretinogram of the rhodopsin knockout mouse, Vis Neurosci. 16:391.
34. Varnum, B. C., Young, C., Elliott, G., Garcia, A., Bartley, T. D., Fridell, Y. W., Hunt, R. W., Trail, G., Clogston, C., Toso, R. J., and et al., 1995, Axl receptor tyrosine kinase stimulated by the vitamin K-dependent protein encoded by growth-arrest-specific gene 6, Nature. 373:623.
35. Vollrath, D., Feng, W., Duncan, J. L., Yasumura, D., D'Cruz, P. M., Chappelow, A., Matthes, M. T., Kay, M. A., and LaVail, M. M., 2001, Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk, Proc Natl Acad Sci USA. 98:12584.
36. Weng, J., Mata, N. L., Azarian, S. M., Tzekov, R. T., Birch, D. G., and Travis, G. H., 1999, Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice, Cell. 98:13.