A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese (original) (raw)

References

  1. Oguchi, C. Über eine Abart von Hemeralopie. Acta Soc. Ophthalmol. Jpn. 11, 123–134 (1907).
    Google Scholar
  2. Carr, R.E. & Gouras, P. Oguchi disease. Arch. Ophthalmol. 73, 646–656 (1965).
    Article CAS PubMed Google Scholar
  3. Carr, R.E. & Ripps, H. Rhodopsin kinetics and rod adaptation in Oguchi disease. Invest. Ophthalmol. 6, 426–436 (1991).
    Google Scholar
  4. Mizuo, G. A new discovery in dark adaptation in Oguchi disease. Acta Soc. Ophthalmol. Jpn. 17, 1148–1150 (1913).
    Google Scholar
  5. Maw, M.A. et al. Oguchi disease: suggestion of linkage to markers on chromosome 2q. J. med. Genet. 32, 396–398 (1995).
    Article CAS PubMed PubMed Central Google Scholar
  6. Lu-Kuo, J., Ward, D.C. & Spritz, R.A. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome type I (WS1) locus (PAX3 gene). Genomics 16, 173–179 (1993).
    Article CAS PubMed Google Scholar
  7. Valverde, D. et al. Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum. Genet. 94, 193–194 (1994).
    Article CAS PubMed Google Scholar
  8. Kühn, H., Hall, S.W. & Wilden, U. Light induced binding of 48-kDa protein to photoreceptor membranes is highly enhanced by phosphorylation of rhodopsin. FEBS Lett. 176, 473–478 (1984).
    Article PubMed Google Scholar
  9. Wilden, U., Hall, S.W. & Kühn, H. Phoshodiesterase activation by photoexcited rhodopsin is quenched when rhodopsin is phosphorylated and binds the intrinsic 48-kDa protein of rod outer segments. Proc. natn. Acad. Sci. U.S.A. 83, 1174–1178 (1986).
    Article CAS Google Scholar
  10. Palczewski, K., Rispoli, G. & Detwiler, P.B. The influence of arrestin (48K protein) and rhodopsin kinase on visual transduction. Neuron 8, 117–126 (1992).
    Article CAS PubMed Google Scholar
  11. Palczewski, K., McDowell, J.H., Jakes, S., Ingebritsen, T.S. & Hargrave, P.A. Regulation of rhodopsin dephosphorylation by arrestin. J. biol. Chem. 264, 15770–15773 (1989).
    CAS PubMed Google Scholar
  12. Yamaki, K., Tsuda, M. & Shinohara, T. The sequence of human retinal S-antigen reveals similarities with α-transducin. FEBS Lett. 234, 39–43 (1988).
    Article CAS PubMed Google Scholar
  13. Yamaki, K., Tsuda, M., Kikuchi, T., Chen, K.-H., Huang, K.-P. & Shinohara, T. Structural organization of the human S-antigen gene. J. biol. Chem. 265, 20757–20762 (1990).
    CAS PubMed Google Scholar
  14. Sheffield, V.C., Beck, J.S., Nichols, B., Lidral, C.E.M. Detection of multiallelic polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. Am. J. hum. Genet. 50, 567–575 (1992).
    CAS PubMed PubMed Central Google Scholar
  15. Gal, A., Orth, U., Baehr, W., Schwinger, E. & Rosenberg, T. Heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness. Nature Genet. 7, 64–68 (1994).
    Article CAS PubMed Google Scholar
  16. Dryja, T.P., Berson, E.L., Rao, V.R. & Oprian, D.D. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nature Genet. 4, 280–283 (1993).
    Article CAS PubMed Google Scholar
  17. Rosenfeld, P.J. et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet. 1, 209–213 (1992).
    Article CAS PubMed Google Scholar
  18. McLaughlin, M.E., Sand berg, M A., Berson, E.L & Dryja, T.D. Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet. 4, 130–133 (1993).
    Article CAS PubMed Google Scholar
  19. Dolph, P.J., Ranganathan, R., Colley, N.J., Hardy, R.W., Socolich, M. & Zuker, C.S. Arrestin function in inactivation of G protein-coupled receptor rhodopsin in vivo. Science. 260, 1910–1916 (1993).
    Article CAS PubMed Google Scholar
  20. de Jong, R.T.V.M., Zrenner, E., van Meel, G.J., Kennen, J.E.E. & van Norren, D. Mizuo phenomenon in X-linked retinoschisis. Arch. Ophthalmol. 109, 1104–1108 (1991).
    Article CAS PubMed Google Scholar
  21. Heckenlively, J.R. & Weleber, R.G. X-linked recessive cone dystrophy with tapetal-like sheen: a newly recognize entity with Mizuo-Nakamura phenomenon. Arch. Ophthalmol. 104, 1322–1328 (1986).
    Article CAS PubMed Google Scholar
  22. Orita, M., Suzuki, Y., Sekyia, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874–879 (1989).
    Article CAS PubMed Google Scholar
  23. Budowle, B., Chakraborty, R., Ginsti, A., Eisenberg, A. & Alien, R. Analysis of the VNTR Locus D1S80 by the PCR followed by high-resolution PAGE. Am. J. hum. Genet. 48, 137–144 (1991).
    CAS PubMed PubMed Central Google Scholar

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