Dystrophin expression in the human retina is required for normal function as defined by electroretinography

Nature Genetics

Volumn 4, Issue 1, 1993, Pages 82-86

  Pillers, De Ann M ^a   Bulman, Dennis E ^b   Weleber, Richard G ^a   Sigesmund, Dayle A ^b   Musarella, Maria A ^b   Powell, Berkley R ^a   Murphey, William H ^a   Westall, Carol ^b   Panton, Carole ^b   Becker, Laurence E ^b   Worton, Ronald G ^b   Ray, Peter N ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; ISOPROTEIN;

ADOLESCENT; ALTERNATIVE RNA SPLICING; ARTICLE; B WAVE; BECKER MUSCULAR DYSTROPHY; CHILD; DARK ADAPTATION; DUCHENNE MUSCULAR DYSTROPHY; ELECTRORETINOGRAPHY; GENE EXPRESSION; HUMAN; HUMAN TISSUE; MALE; PROTEIN LOCALIZATION; RETINA;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; DYSTROPHIN; ELECTRORETINOGRAPHY; EYE PROTEINS; HUMAN; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; ORGAN SPECIFICITY; POLYMERASE CHAIN REACTION; RETINA; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T;

EID: 0027172743     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0593-82     Document Type: Article

References (45)

1. Weleber, R.G. et al. Åland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous gene deletion syndrome at Xp21: Similarity to incomplete congenital stationary night blindness. Arch. Opthalmol. 107, 1170-1179 (1989).
2. Pillers, D.M. et al. Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. Am. J. med. Genet. 36, 23-28 (1990).
3. Pillers, D.M. et al. Deletion mapping of Åland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. Am. J. hum. Genet. 47, 795-801 (1990).
4. Alitalo, T., Kruse, T.A., Forsius, H., Eriksson, A.W. & de la Chapelle, A. Localization of the Åland Island eye disease locus to the pericentric region of the X chromosome by linkage analysis. Am. J. hum. Genet. 48, 31-38 (1991).
5. Musarella, M.A. et al. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics 5, 727-737 (1989).
6. Gal, A. et al. Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Hum. Genet. 81, 315-318 (1989).
7. Bech-Hansen, N.T. et al. A locus for congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome. Hum. Genet. 84, 406-408 (1990).
8. Davies, K.E. et al. Report on the genetic constitution of the X chromosome. Cytogenet. Cell Genet. 58, 853-966 (1991).
9. Chamberlain, J.S. et al. Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science 239, 1416-1418 (1988).
10. Chelly, J. et al. Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature 344, 64-65 (1990).
11. Chelly, J. et al. Quantitative estimation of minor mRNAs by cDNA-polymerase chain reaction. Application to dystrophin mRNA in cultured myogeneic and brain cells. Eur. J. Biochem. 187, 691-698 (1990).
12. Hoffman, E.P., Hudecki, M.S., Rosenberg, P.A., Pollina, C.M. & Kunkel, L.M. Cell and fiber type distribution of dystrophin. Neuron 1, 411-420 (1988).
13. Miike, T., Miyatake, M., Zhao, J., Yoshioka, K. & Uchino, M. Immunohistochemical dystrophin reaction in synaptic regions. Brain. Dev.11, 344-346 (1989).
14. Zhao, J., Uchino, M., Yoshioka, K., Miyatake, M. & Miike, T. Dystrophin in control and mdx retina. Brain Dev. 13, 135-137 (1991).
15. Dick, E. & Miller, R.F. Light-evoked potassium activity in mudpuppy retina: its relationship to the b-wave of the electroretinogram. Brain Res.154, 388-394 (1978).
16. Kline, R.P., Ripps, H. & Dowling, J.E. Generation of b-wave currents in the skate retina. Proc. natn. Acad. Sci. U.S.A. 75, 5727-5731 (1978).
17. Miller, R.F. & Dowling, J.E. Intracellular response of the Muller (Glial) cells of mudpuppy retina: Their relation to b-wave of the electroretinogram. J. Neurophysiol. 33, 323-341 (1970).
18. 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, 295-304 (1991).
19. Burrow, K.L. et al. Dystrophin expression and somatic reversion in prednisone treated and untreated Duchenne dystrophy. CIDD Study Group. Neurology 41, 661-666 (1991).
20. Zubrzycka-Gaarn, E.E. et al. Dystrophin is tightly associated with the sarcolemma of mammalian skeletal muscle fibers. Exp. cell. Res. 192, 278 (1991).
21. Boyce, F.M., Beggs, A.H., Feener, C. & Kunkel, L.M. Dystrophin is transcribed in brain from a distant upstream promoter. Proc. natn. Acad. Sci. U.S.A. 88, 1276-1280 (1991).
22. Nudel, U. et al. Duchenne muscular dystrophy product is not identical in muscle and brain. Nature 337, 76-78 (1989).
23. Feener, C.A., Koenig, M. & Kunkel, L.M. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature338, 509-511 (1989).
24. Bies, R.D. et al. Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucl. Acids Res. 20, 1725-1731 (1992).
25. Roberts, R.G., Coffey, A.J., Bobrow, M. & Bentley, D.R. Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. Genomics 13, 942-950 (1992).
26. Lidov, H.G.W., Byers, T.J., Watkins, S.C. & Kunkel, L.M. Localization of dystrophin to post-synaptic regions of central nervous system cortical neurons. Nature 348, 725-728 (1990).
27. Yeadon, J.E., Lin, H., Dyer, S.M. & Burden, S.J. Dystrophin is a component of the subsynaptic membrane. J. cell Biol. 115, 1069-1076 (1991).
28. Carpenter, S. & Karpati, G. Duchenne muscular dystrophy: Plasma membrane loss initiates muscle cell necrosis unless it is repaired. Brain102, 147-161. (1979).
29. Ervasi, J.M. & Campbell, K.P. Membrane organization of the dystrophin-glycocomplex. Cell 66, 1121-1131 (1991).
30. Lansman, J.B. & Franco, A.J. What does dystrophin do in normal muscle?J. Muscle Res. Cell Motil. 12, 409-411 (1991).
31. Turner, P.R., Fong, P.Y., Denetclaw, W.F. & Steinhardt, R.A. Increased calcium influx in dystrophic muscle. J. cell Biol. 115, 1701-1712. (1991).
32. Emory, A.E.H. in Duchenne Muscular Dystrophy. Revised edn (Oxford University Press, New York, 1988).
33. Lederfein, D. et al. A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other non-muscle tissues. Proc. natn. Acad. Sci. U.S.A. 89, 5346-5350 (1992).
34. Gorecki, D.C. et al. Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum. molec. Genet. 1, 505-510. (1992).
35. Mehler, M.F., Hass, K.Z., Kessler, J.A. & Stanton, P.K. Enhanced sensitivity of hippocampal pyramidal neurons from mdx mice to hypoxi-induced loss of synaptic transmission. Proc. natn Acad. Sci. U.S.A. 89, 2461-2465 (1992).
36. Faber, D.S. Analysis of the slow transretinal potentials in response to light, thesis, (University of New York, Buffalo, 1969).
37. Wen, R. & Oakley, B. K(+)-evoked Muller cell depolarization generates fa-wave of electroretinogram in toad retina. Proc. natn. Acad. Sci. U.S.A.87, 2117-2121 (1990).
38. Hoffman, E.P., Brown, R.H. & Kunkel, L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919-928 (1987).
39. Koenig, M. et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genetic organization of the DMD gene in normal and affected individuals. Cell 50, 509-517 (1987).
40. Zubrzycka-Gaarn, E.E. et al. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature333, 466-469 (1988).
41. Laemmli, U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227, 680-685 (1970).
42. Towbin, H., Staehlin, T. & Gordon, J. Electrophoretic transfer of protein from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications. Proc. natn. Acad. Sci. U.S.A. 76, 4350-4354 (1979).
43. Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem.162, 156-159 (1987).
44. Koenig, M., Monaco, A.P. & Kunkel, L.M. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53, 219-226 (1988).
45. Heery, D.M., Gannon, F. & Powell, R. A simple method for subcloning DNA fragments from gel slices. Trends Genet. 6, 173 (1990).