Identification of the gene and the mutation responsible for the mouse nob phenotype

Investigative Ophthalmology and Visual Science

Volumn 44, Issue 1, 2003, Pages 378-384

  Gregg, Ronald G ^a   Mukhopadhyay, Suparna ^a   Candille, Sophie I ^a   Ball, Sherry L ^b,c,d   Pardue, Machelle T ^f,g   McCall, Maureen A ^a   Peachey, Neal S ^b,c,e  

^a UNIVERSITY OF LOUISVILLE   (United States)

^b LOUIS STOKES CLEVELAND VA MEDICAL CENTER   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

^e CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f ATLANTA VA MEDICAL CENTER   (United States)

^g EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; LEUCINE; NYCTALOPIN; PROTEIN; PROTEOGLYCAN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ARTICLE; AVOIDANCE BEHAVIOR; B WAVE; FEMALE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; MALE; MOLECULAR CLONING; MOUSE; NIGHT BLINDNESS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA BIPOLAR GANGLION CELL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; VISION; X CHROMOSOME LINKED DISORDER;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, NORTHERN; CHROMOSOME MAPPING; CLONING, MOLECULAR; DISEASE MODELS, ANIMAL; EYE PROTEINS; FEMALE; IN SITU HYBRIDIZATION; MALE; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION; NIGHT BLINDNESS; PHENOTYPE; PHOTOTRANSDUCTION; POLYMERASE CHAIN REACTION; PROTEOGLYCANS; RETINA; RNA, MESSENGER; SEQUENCE DELETION; VISION;

EID: 0037246889     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.02-0501     Document Type: Article

References (24)

1. Nawy S, Jahr CE. cGMP-gated conductance in retinal bipolar cells is suppressed by the photoreceptor transmitter. Neuron. 1991;7:677-683.
2. Robson JG, Frishman LJ. Response linearity and kinetics of the cat retina: the bipolar cell component of the dark-adapted electroretinogram. Vis Neurosci. 1995;12:837-850.
3. Kofuji P, Ceelen P, Zahs KR, Surbeck LW, Lester HA, Newman EA. Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina. J Neurosci. 2000;20:5733-5740.
4. Masu M, Iwakabe H, Tagawa Y, et al. Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene. Cell. 1995;80:757-765.
5. Dhingra A, Lyubarsky A, Jiang M, et al. The light response of ON bipolar neurons requires Gao. J Neurosci. 2000;20:9053-9058.
6. Lamb TD. Gain and kinetics of activation in the G-protein cascade of phototransduction. Proc Natl Acad Sci USA. 1996;93:566-570.
7. Pardue MT, McCall MA, Lavail MM, Gregg RG, McCall MA, Peachey NS. A naturally occurring mouse model of X-linked congenital stationary night blindness. Invest Ophthalmol Vis Sci. 1998;39:2443-2449.
8. Pardue MT, Ball SL, Candille S, McCall MA, Gregg RG, Peachey NS. nob; a mouse model of CSNB1. In: Anderson HR, ed. New Insights in Retinal Degenerative Disease. New York: Kluwer Academic/Plenum Publishers; 2001;319-328.
9. Tagawa Y, Sawai H, Ueda Y, Tauchi M, Nakanishi S. Immunohistological studies of metabotropic glutamate receptor subtype 6-deficient mice show no abnormality of retinal cell organization and ganglion cell maturation. J Neurosci. 1999;19:2568-2579.
10. Candille SI, Pardue MT, McCall MA, Peachey NS, Gregg RG. Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome. Invest Ophthalmol Vis Sci. 1999;40:2748-2751.
11. Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T. Congenital stationary night blindness with negative electroretinogram: a new classification. Arch Ophthalmol. 1986;104:1013-1020.
12. Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet. 2000;26:319-323.
13. Pusch CM, Zeitz C, Brandau O, et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet. 2000;26:324-327.
14. Hubbard T, Barker D, Birney E, et al. The Ensemble genome database project. Nucleic Acids Res. 2002;30:38-41.
15. Lyons GE, Schiaffino S, Sassoon D, Barton P, Buckingham M. Developmental regulation of myosin gene expression in mouse cardiac muscle. J Cell Biol. 1990;111:2427-2436.
16. 2 subunit of voltage-dependent calcium channels in the retinal outer plexiform layer. Invest Ophthalmol Vis Sci. 2002;43:1595-1603.
17. Blake JA, Richardson JE, Bult CJ, Kadin JA, Eppig JT. The Mouse Genome Database (MGD): the model organism database for the laboratory mouse. Nucleic Acids Res. 2002;30:113-115.
18. Nielsen H, Engelbrecht J, Brunak S, von Heijne G. Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites. Protein Eng. 1997;10:1-6.
19. Hocking AM, Shinomura T, McQuillan DJ. Leucine-rich repeat glycoproteins of the extracellular matrix. Matrix Biol. 1998;17:1-19.
20. Rost B. Better 1D predictions by experts with machines. Proteins. 1997;(suppl 1):192-197.
21. Alexander KR, Fishman GA, Peachey NS, Marchese AL, Tso MO. "On" response defect in paraneoplastic night blindness with cutaneous malignant melanoma. Invest Ophthalmol Vis Sci. 1992;33:477-483.
22. Scholl HP, Langrova H, Pusch CM, Wissinger B, Zrenner E, Apfelstedt-Sylla E. Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. Invest Ophthalmol Vis Sci. 2001;42:2728-2736.
23. Vardi N, Duvoisin R, Wu G, Sterling P. Localization of mGluR6 to dendrites of ON bipolar cells in primate retina. J Comp Neurol. 2000;423:402-412.
24. Nawy S. The metabotropic receptor mGluR6 may signal through G(o), but not phosphodiesterase, in retinal bipolar cells. J Neurosci. 1999;19:2938-2944.