Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

Nature Genetics

Volumn 3, Issue 3, 1993, Pages 202-207

  Nichols, Brian E ^a   Sheffield, Val C ^a   Vandenburgh, Kimberlie ^a   Drack, Arlene V ^a   Kimura, Alan E ^a   Stone, Edwin M ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERIN;

ARTICLE; CLINICAL ARTICLE; CODON; DNA SEQUENCE; ELECTRORETINOGRAPHY; FEMALE; HUMAN; MALE; MOUSE; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE; RETINA DYSTROPHY; RETINA FOVEA; RETINA PIGMENT DEGENERATION;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMAL; BASE SEQUENCE; CASE REPORT; CODON; DNA; EXONS; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; HUMAN; INTERMEDIATE FILAMENT PROTEINS; LINKAGE (GENETICS); MALE; MICE; MICE, MUTANT STRAINS; MIDDLE AGE; MOLECULAR SEQUENCE DATA; NEUROPEPTIDES; OLIGODEOXYRIBONUCLEOTIDES; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, SECONDARY; RETINAL DEGENERATION; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027401094     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0393-202     Document Type: Article

References (37)

1. Doutman, A. F., van Blommestein, J. D. A., Henkes, H. E., Waardenburg, P. J. & Solleveld-van Driest, E. Butterfly-shaped pigment dystrophy of the fovea. Arch. Ophthalmol. 83, 558-569 (1970)
2. Gass, J. D. M. A clinicopathologic study of a peculiar foveomacular dystrophy. Trans. Am. Ophth. Soc. 72, 139-155 (1974).
3. Marmor M. F. & Byers B. Pattern dystrophy of the pigment epithelium. Am. J. Ophthalmol. 84, 32-44 (1977).
4. Hsieh R. C., Fine B. S. & Lyons J. S. Patterned dystrophies of the retinal pigment epithelium. Arch. Ophthalmol. 95, 429-435 (1977).
5. de Jong P. T. V. M. &Delleman J. W. Pigment epithelial pattern dystrophy: Four different manifestations in a family. Arch. Ophthalmol. 100, 1416-1421 (1982).
6. Watzke R. C., Foik J. C. & Lang R. M. Pattern dystrophy of the retinal pigment epithelium. Ophthalmology. 89, 1400-1406 (1982).
7. McKusick, V. A. Mendelian Inheritance in Man 9th edn (Johns Hopkins University, Baltimore, 1990).
8. Liebowitz, H. M., Krueger, D. E. & Maunder, L. R. The Framingham eye study. Sun/. Ophthalmol. 24 (suppl) 335-610 (1980).
9. Molday, R. S., Hicks, D. & Molday, L Peripherin. A rim-specific membrane protein of rod outer segment discs. Invest. Ophthalmol. Vis. Sci. 28, 50-61 (1987).
10. Travis, G. H., Brennan, M. B., Danielson, P. E., Kozak, C. A. & Sutcliffe, J. G. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature. 338, 70-73 (1989).
11. Connell, G., Bascom, R., Molday, L., Reid, D., Mclnnes, R. R. & Molday, R. S. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration In the rds mouse. Proc. natn. Acad. Sci. U. S. A. 88, 723-726 (1991).
12. Travis, G. H. et al. The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA. Genomics 10, 733-739 (1991).
13. Farrar, J. F. et al. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 354, 478-480 (1991).
14. Kajiwara, K. et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354, 480-483 (1991).
15. Kajiwara, K., Hahn, L. B., Mukai, S., Berson, E. L. & Dryja, T. P. Mutations in the human RDS gene in patients with autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. (Suppl). 33/4, 1396 (1992).
16. Meyers, R. M., Fischer, S. G., Lerman, LS. & Maniatis, T. Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucl. Acids Res. 13, 3131-3145 (1985).
17. Sheffield, V. C., Cox, D. R. & Myers, R. M. Attachment of a 40-base-pairG+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc. natn. Acad. Sci. U. S. A. 86, 232-236 (1989).
18. Sheffield, V. C. et al. Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. Am. J. hum. Genet. 50, 567-575 (1992).
19. Sheffield, V. C., Fishman, G. A., Beck, J. S., Kimura, A. E. & Stone, E. M. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am. J. hum. Genet. 49, 699-706 (1991).
20. Polymeropoulos, M. H., Xiao, H" Rath, D. S. & Merril, C. R. Tetranucleotide repeat polymorphism atthe human dihydrofolate reductase psi-2 pseudogene (DHFRP2). Nucl. Acids Res. 19, 4792 (1991).
21. Kumar-Singh, R., Jordan, S. A., Farrar, G. J. & Humphries, P. Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus. Nucl. Acids Res. 19, 5800 (1991).
22. Gass, J. D. M. Stereoscopic Atlas of Macular Diseases. 60-91 (C. V. Mosby, St. Louis, 1987).
23. Pearce, W. G. Doyne's honeycomb retinal degeneration. Clinical and genetic features. Br. J. Ophthalmol. 52, 73-78 (1968).
24. Deutman, A. F. & Jansen, L. M. A. A. Dominantly inherited drusen of Bruch's membrane. Br. J. Ophthalmol. 54, 373-382 (1970).
25. Hyman, L. G., Lilienfeld, A. M., Ferris, F. L. & Fine, S. L Senile macular degeneration: A case-control study. Am. J. Epidemiol. 118, 213-227 (1983).
26. Meyers, S. M. & Zachary, A. A. Monozygotic twins with age-related macular degeneration. Arch. Ophthalmol. 106, 651-653 (1988).
27. Melrose, M. A., Magargal, L. E. & Lucier, A. C. Identical twins with subretinal neovascularization complicating senile macular degeneration. Ophthal. Surg. 16, 648-651 (1985).
28. Stone, E. M., Nichols, B. E., Streb, L. M., Kimura, A. E. & Sheffield, V. C. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nature Genet. 1, 246-250 (1992).
29. Bascom, R. A. et al. Cloning of the cDNAfor a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 8, 1171-1184 (1992).
30. Connell, G. J. & Molday, R. S. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochemistry 29, 4691-4698 (1990).
31. Hawkins, R. K., Jansen, H. G. & Sanyal, S. Development and degeneration of retina in rds mutant mice: Photoreceptor abnormalities in the heterozygotes. Exp. Eye Res. 41, 701-720 (1985).
32. Jansen, H. G. & Sanyal, S. Development and degeneration of retina in rds mutant mice: Electron microscopy. J. comp. Neurol. 224, 71-84 (1984).
33. Nathans, J. et al. Molecular genetics of human blue cone monochromacy. Science 245, 831-838 (1989).
34. Reichel, E., Bruce, A. M., Sandberg, M. A. &Berson, E. L'Anelectroretinographic and molecular genetic study of X-linked cone degeneration. Am. J. Ophthalmol. 108, 540-547 (1989).
35. Grimberg, J. et al. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucl. Acids Res. 17, 8390 (1989).
36. Nichols, B. E., Stone, E. M. & Sheffield, V. C. A user-friendly Macintosh interface for DOS-based linkage analysis Am. J. hum. Genet. (Suppl.) (in the press).
37. Lathrop, G. M. & Lalouel, J. M. Easy calculations of lod scores and genetic risks on small computers. Am. J. hum. Genet. 36, 460-465 (1984).