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Volumn 66, Issue 2, 1999, Pages 100-110

Effects of dystrophin isoforms on signal transduction through neural retina: Genotype-phenotype analysis of Duchenne muscular dystrophy mouse mutants

Author keywords

Animal model; B wave; Duchenne muscular dystrophy; Dystrophin; Electroretinogram; Genotype phenotype correlation

Indexed keywords

DYSTROPHIN;

EID: 0032805158     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2784     Document Type: Article
Times cited : (54)

References (62)
  • 2
    • 0024405276 scopus 로고
    • Åland Island disease (Forsius-Eriksson syndrome) associated with contiguous gene deletion syndrome at Xp21: Similarity to incomplete congenital stationary night blindness
    • Weleber R G, Pillers D M, Powell B R, Hanna C E, Magenis R E, Buist N RM. Åland Island disease (Forsius-Eriksson syndrome) associated with contiguous gene deletion syndrome at Xp21: Similarity to incomplete congenital stationary night blindness. Arch Ophthalmol. 107:1989;1170-1179.
    • (1989) Arch Ophthalmol , vol.107 , pp. 1170-1179
    • Weleber, R.G.1    Pillers, D.M.2    Powell, B.R.3    Hanna, C.E.4    Magenis, R.E.5    Buist, N.R.6
  • 6
    • 0028065310 scopus 로고
    • Correlation between electroretinogram findings and molecular analysis in the Duchenne muscular dystrophy phenotype
    • DeBecker I, Riddell D C, Dooley J M, Tremblay F. Correlation between electroretinogram findings and molecular analysis in the Duchenne muscular dystrophy phenotype. Br J Ophthalmol. 78:1994;719-722.
    • (1994) Br J Ophthalmol , vol.78 , pp. 719-722
    • Debecker, I.1    Riddell, D.C.2    Dooley, J.M.3    Tremblay, F.4
  • 7
    • 0028365352 scopus 로고
    • Retinal signal transmission in Duchenne muscular dystrophy: Evidence for dysfunction in the photoreceptor/depolarizing bipolar pathway
    • Fitzgerald K M, Cibis G W, Giambrone S A, Harris D J. Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar pathway. J Clin Invest. 93:1994;2425-2430.
    • (1994) J Clin Invest , vol.93 , pp. 2425-2430
    • Fitzgerald, K.M.1    Cibis, G.W.2    Giambrone, S.A.3    Harris, D.J.4
  • 9
    • 0014780064 scopus 로고
    • Intracellular responses of the Muller (glial) cells of mudpuppy retina: Their relation to b-wave of the electroretinogram
    • Miller R F, Dowling J E. Intracellular responses of the Muller (glial) cells of mudpuppy retina: their relation to b-wave of the electroretinogram. J Neurophysiol. 33:1970;123-341.
    • (1970) J Neurophysiol , vol.33 , pp. 123-341
    • Miller, R.F.1    Dowling, J.E.2
  • 10
    • 0018186202 scopus 로고
    • Light-evoked potassium activity in mudpuppy retina: Its relationship to the b-wave of the electroretinogram
    • Dick E, Miller R F. Light-evoked potassium activity in mudpuppy retina: its relationship to the b-wave of the electroretinogram. Brain Res. 154:1978;388-394.
    • (1978) Brain Res , vol.154 , pp. 388-394
    • Dick, E.1    Miller, R.F.2
  • 11
  • 12
    • 0028021843 scopus 로고
    • Current source density (CSD) analysis of retinal field potentials. I. Methodological considerations and depth profiles
    • Xu X, Karwoski C J. Current source density (CSD) analysis of retinal field potentials. I. Methodological considerations and depth profiles. J Neurophysiol. 72:1994;84-95.
    • (1994) J Neurophysiol , vol.72 , pp. 84-95
    • Xu, X.1    Karwoski, C.J.2
  • 13
    • 0029360356 scopus 로고
    • Response linearity and kinetics of the cat retina: The bipolar cell component of the dark-adapted electroretinogram
    • Robson J G, Frishman L J. Response linearity and kinetics of the cat retina: The bipolar cell component of the dark-adapted electroretinogram. Vis Neurosci. 12:1995;837-850.
    • (1995) Vis Neurosci , vol.12 , pp. 837-850
    • Robson, J.G.1    Frishman, L.J.2
  • 14
    • 0028952142 scopus 로고
    • Correlation of dynamic responses in the ON bipolar neuron and the b-wave of the electroretinogram
    • Tian N, Slaughter M M. Correlation of dynamic responses in the ON bipolar neuron and the b-wave of the electroretinogram. Vis Res. 35:1995;1359-1364.
    • (1995) Vis Res , vol.35 , pp. 1359-1364
    • Tian, N.1    Slaughter, M.M.2
  • 15
    • 0030096426 scopus 로고    scopus 로고
    • Beta wave of the scotopic (rod) electroretinogram as a measure of the activity of human on-bipolar cells
    • Hood D C, Birch D G. Beta wave of the scotopic (rod) electroretinogram as a measure of the activity of human on-bipolar cells. J Opt Soc Am. 13:1996;623-633.
    • (1996) J Opt Soc Am , vol.13 , pp. 623-633
    • Hood, D.C.1    Birch, D.G.2
  • 16
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman E P, Brown R HJ, Kunkel L M. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell. 51:1987;919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown, R.H.2    Kunkel, L.M.3
  • 17
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in affected individuals
    • Koenig M, Hoffman E P, Bertelson C J, Monaco A P, Feener C, Kunkel L M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in affected individuals. Cell. 50:1987;509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 21
    • 0026653859 scopus 로고
    • A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues
    • Lederfein D, Levy Z, Augier N, Mornet D, Morris G, Fuchs O, Yaffe D. A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc Natl Acad Sci USA. 89:1992;5346-5350.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 5346-5350
    • Lederfein, D.1    Levy, Z.2    Augier, N.3    Mornet, D.4    Morris, G.5    Fuchs, O.6    Yaffe, D.7
  • 23
    • 0027214837 scopus 로고
    • An alternative dystrophin transcript specific to peripheral nerve
    • Byers T, Lidov H, Kunkel L. An alternative dystrophin transcript specific to peripheral nerve. Nature Genet. 4:1993;77-81.
    • (1993) Nature Genet , vol.4 , pp. 77-81
    • Byers, T.1    Lidov, H.2    Kunkel, L.3
  • 24
    • 0028937525 scopus 로고
    • Dp140: A novel 140 kDa CNS transcript from the dystrophin locus
    • Lidov H GW, Selig S, Kunkel L M. Dp140: A novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet. 4:1995;329-335.
    • (1995) Hum Mol Genet , vol.4 , pp. 329-335
    • Lidov, H.G.1    Selig, S.2    Kunkel, L.M.3
  • 25
    • 0024415978 scopus 로고
    • Immunohistochemical dystrophin reaction in synaptic regions
    • Miike T, Miyatake M, Zhao J, Yoshioka K, Uchino M. Immunohistochemical dystrophin reaction in synaptic regions. Brain Dev. 11:1989;344-346.
    • (1989) Brain Dev , vol.11 , pp. 344-346
    • Miike, T.1    Miyatake, M.2    Zhao, J.3    Yoshioka, K.4    Uchino, M.5
  • 28
    • 0027772836 scopus 로고
    • Colocalization of retinal dystrophin and actin in postsynaptic dendrites of rod and cone photoreceptor synapses
    • Schmitz F, Holbach M, Drenckhahn D. Colocalization of retinal dystrophin and actin in postsynaptic dendrites of rod and cone photoreceptor synapses. Histochem. 100:1993;473-479.
    • (1993) Histochem , vol.100 , pp. 473-479
    • Schmitz, F.1    Holbach, M.2    Drenckhahn, D.3
  • 34
    • 0029820310 scopus 로고    scopus 로고
    • Differential expression of dystrophin isoforms in strains of mdx mice with different mutations
    • Im W B, Phelps S F, Copen E H, Adams E G, Slightom J L, Chamberlain J S. Differential expression of dystrophin isoforms in strains of mdx mice with different mutations. Hum Mol Genet. 5:1996;1149-1153.
    • (1996) Hum Mol Genet , vol.5 , pp. 1149-1153
    • Im, W.B.1    Phelps, S.F.2    Copen, E.H.3    Adams, E.G.4    Slightom, J.L.5    Chamberlain, J.S.6
  • 37
    • 0024580709 scopus 로고
    • Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice
    • Chapman V M, Miller D R, Armstrong D A, Caskey C T. Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. Proc Natl Acad Sci USA. 86:1989;1292-1296.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 1292-1296
    • Chapman, V.M.1    Miller, D.R.2    Armstrong, D.A.3    Caskey, C.T.4
  • 38
    • 0027273835 scopus 로고
    • New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin
    • Cox G A, Phelps S F, Chapman V M, Chamberlain J S. New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin. Nature Genet. 4:1993;87-93.
    • (1993) Nature Genet , vol.4 , pp. 87-93
    • Cox, G.A.1    Phelps, S.F.2    Chapman, V.M.3    Chamberlain, J.S.4
  • 40
    • 0013941208 scopus 로고
    • S-potentials from colour units in the retina of fish (Cyprinidae)
    • Naka K I, Rushton W AH. S-potentials from colour units in the retina of fish (Cyprinidae). J Physiol. 185:1966;536-555.
    • (1966) J Physiol , vol.185 , pp. 536-555
    • Naka, K.I.1    Rushton, W.A.2
  • 41
    • 0021129507 scopus 로고
    • Properties of electroretinographic intensity-response functions in retinitis pigmentosa
    • Massof R W, Wu L, Finkelstein D, Perry C, Starr S J, Johnson M A. Properties of electroretinographic intensity-response functions in retinitis pigmentosa. Docum Ophthal. 57:1984;279-296.
    • (1984) Docum Ophthal , vol.57 , pp. 279-296
    • Massof, R.W.1    Wu, L.2    Finkelstein, D.3    Perry, C.4    Starr, S.J.5    Johnson, M.A.6
  • 42
    • 0000805140 scopus 로고
    • Fitting curves to data: The simplex algorithm is the answer
    • May 362
    • Caceci, M, S, Cacheris, W, P, Fitting curves to data: the simplex algorithm is the answer, BYTE, May, 340, 362, 1984.
    • (1984) BYTE , pp. 340
    • Caceci, M.S.1    Cacheris, W.P.2
  • 43
    • 0025501730 scopus 로고
    • A quanitative measure of the electrical activity of human rod photoreceptors using electroretinography
    • Hood D C, Birch D G. A quanitative measure of the electrical activity of human rod photoreceptors using electroretinography. Vis Neurosci. 5:1990;379-387.
    • (1990) Vis Neurosci , vol.5 , pp. 379-387
    • Hood, D.C.1    Birch, D.G.2
  • 44
    • 0027199939 scopus 로고
    • Light adaptation of human rod receptors: The leading edge of the human a-wave and models of rod receptor activity
    • Hood D C, Birch D G. Light adaptation of human rod receptors: The leading edge of the human a-wave and models of rod receptor activity. Vis Res. 33:1993;1605-1618.
    • (1993) Vis Res , vol.33 , pp. 1605-1618
    • Hood, D.C.1    Birch, D.G.2
  • 45
    • 0028229520 scopus 로고
    • Rod phototransduction in retinitis pigmentosa: Estimation and interpretation of parameters derived from the rod a-wave
    • Hood D C, Birch D G. Rod phototransduction in retinitis pigmentosa: Estimation and interpretation of parameters derived from the rod a-wave. Invest Ophthalmol Vis Sci. 35:1994;2948-2961.
    • (1994) Invest Ophthalmol Vis Sci , vol.35 , pp. 2948-2961
    • Hood, D.C.1    Birch, D.G.2
  • 46
    • 0028158701 scopus 로고
    • Analysis of ERG a-wave amplification and kinetics in terms of the G-protein cascade of phototransduction
    • Breton M E, Schueller A W, Lamb T W, Pugh E N Jr. Analysis of ERG a-wave amplification and kinetics in terms of the G-protein cascade of phototransduction. Invest Ophthalmol Vis Sci. 35:1994;295-309.
    • (1994) Invest Ophthalmol Vis Sci , vol.35 , pp. 295-309
    • Breton, M.E.1    Schueller, A.W.2    Lamb, T.W.3    Pugh E.N., Jr.4
  • 47
    • 0026505707 scopus 로고
    • A quantitative account of the activation steps involved in phototransduction in amphibian photoreceptors
    • Lamb T D, Pugh E N Jr. A quantitative account of the activation steps involved in phototransduction in amphibian photoreceptors. J Physiol. 449:1992;719-758.
    • (1992) J Physiol , vol.449 , pp. 719-758
    • Lamb, T.D.1    Pugh E.N., Jr.2
  • 49
    • 0027365063 scopus 로고
    • Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophin in muscular dystrophy
    • Nguyen T M, Morris G E. Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophin in muscular dystrophy. Am J Hum Genet. 52:1993;1057-1066.
    • (1993) Am J Hum Genet , vol.52 , pp. 1057-1066
    • Nguyen, T.M.1    Morris, G.E.2
  • 50
    • 0026063851 scopus 로고
    • Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- And carboxy-terminal antisera specific for dystrophin
    • Bulman D E, Murphy E G, Zubrzycka-Gaarn E E, Worton R G, Ray P N. Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin. Am J Hum Genet. 48:1989;295-304.
    • (1989) Am J Hum Genet , vol.48 , pp. 295-304
    • Bulman, D.E.1    Murphy, E.G.2    Zubrzycka-Gaarn, E.E.3    Worton, R.G.4    Ray, P.N.5
  • 51
    • 0026814598 scopus 로고
    • A computational model of the amplitude and implicit time of the b-wave of the human ERG
    • Hood D C, Birch D G. A computational model of the amplitude and implicit time of the b-wave of the human ERG. Vis Neurosci. 8:1992;107-126.
    • (1992) Vis Neurosci , vol.8 , pp. 107-126
    • Hood, D.C.1    Birch, D.G.2
  • 52
    • 9844224480 scopus 로고    scopus 로고
    • Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of β-dystroglycan in the outer plexiform layer of the retina
    • Kameya S, Araki E, Katsuki M, Mizota A, Adachi E, Nakahara K, Nonaka I, Sakuragi S, Takeda S, Nabeshima Y-i. Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of β-dystroglycan in the outer plexiform layer of the retina. Hum Mol Genet. 13:1997;2195-2203.
    • (1997) Hum Mol Genet , vol.13 , pp. 2195-2203
    • Kameya, S.1    Araki, E.2    Katsuki, M.3    Mizota, A.4    Adachi, E.5    Nakahara, K.6    Nonaka, I.7    Sakuragi, S.8    Takeda, S.9    Nabeshima, Y.-I.10
  • 53
    • 0032446003 scopus 로고    scopus 로고
    • Redefinition of dystrophin isoform distribution in mouse tissue by RT-PCR implies role in nonmuscle manifestations of Duchenne muscular dystrophy
    • Tokarz S A, Duncan N M, Rash S M, Sadeghi A, Dewan A K, Pillers D M. Redefinition of dystrophin isoform distribution in mouse tissue by RT-PCR implies role in nonmuscle manifestations of Duchenne muscular dystrophy. Mol Genet Metab. 65:1998;272-281.
    • (1998) Mol Genet Metab , vol.65 , pp. 272-281
    • Tokarz, S.A.1    Duncan, N.M.2    Rash, S.M.3    Sadeghi, A.4    Dewan, A.K.5    Pillers, D.M.6
  • 54
    • 0031683687 scopus 로고    scopus 로고
    • Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contriubution of Dp71 in the retina
    • Howard P L, Dally G Y, Wong M H, Ho A, Weleber R G, Pillers D M, Ray P N. Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contriubution of Dp71 in the retina. Hum Mol Genet. 7:1998;1385-1392.
    • (1998) Hum Mol Genet , vol.7 , pp. 1385-1392
    • Howard, P.L.1    Dally, G.Y.2    Wong, M.H.3    Ho, A.4    Weleber, R.G.5    Pillers, D.M.6    Ray, P.N.7
  • 56
    • 0025648083 scopus 로고
    • Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons
    • Lidov H GW, Byers T J, Watkins S C, Kunkel L M. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature. 348:1990;725-728.
    • (1990) Nature , vol.348 , pp. 725-728
    • Lidov, H.G.1    Byers, T.J.2    Watkins, S.C.3    Kunkel, L.M.4
  • 57
    • 0027275643 scopus 로고
    • A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
    • Ervasti J M, Campbell K P. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol. 122:1993;809-823.
    • (1993) J Cell Biol , vol.122 , pp. 809-823
    • Ervasti, J.M.1    Campbell, K.P.2
  • 58
    • 0028178082 scopus 로고
    • Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor
    • Gee S H, Montanaro F, Lindenbaum M H, Carbonetto S. Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor. Cell. 77:1994;675-686.
    • (1994) Cell , vol.77 , pp. 675-686
    • Gee, S.H.1    Montanaro, F.2    Lindenbaum, M.H.3    Carbonetto, S.4
  • 59
    • 0028877307 scopus 로고
    • Dystroglycan expression in the wild type and mdx mouse neural retina: Synaptic colocalization with dystrophin, dystrophin-related protein but not laminin
    • Montanaro F, Carbonetto S, Campbell K P, Lindenbaum M. Dystroglycan expression in the wild type and mdx mouse neural retina: synaptic colocalization with dystrophin, dystrophin-related protein but not laminin. J Neurosci Res. 42:1995;528-538.
    • (1995) J Neurosci Res , vol.42 , pp. 528-538
    • Montanaro, F.1    Carbonetto, S.2    Campbell, K.P.3    Lindenbaum, M.4


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