Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene

Investigative Ophthalmology and Visual Science

Volumn 37, Issue 8, 1996, Pages 1662-1674

  Jacobson, Samuel G ^a,b,d   Cideciyan, Artur V ^a,b   Kemp, Colin M ^b   Sheffield, Val C ^c   Stone, Edwin M ^c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

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

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

cone; macular degeneration; peripherin RDS gene; retinitis pigmentosa; rod

Indexed keywords

GENE PRODUCT; PERIPHERIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DARK ADAPTATION; ELECTRORETINOGRAPHY; FEMALE; GENE DELETION; GENE INSERTION; HETEROZYGOTE; HUMAN; MALE; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINA CONE; RETINA DEGENERATION; RETINA MACULA LUTEA; RETINA ROD OUTER SEGMENT; VISION; VISUAL ACUITY; VISUAL FIELD;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; DARK ADAPTATION; DNA; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; NERVE TISSUE PROTEINS; PEDIGREE; PERIMETRY; PHOTORECEPTORS; RETINAL DEGENERATION; SEQUENCE DELETION; SIGNAL TRANSDUCTION;

EID: 0029764583     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (54)

1. Van Nie R, Ivanyi D, Demant P. A new H-2 linked mutation, rds, causing retinal degeneration in the mouse. Tissue Antigens. 1978;12:106-108.
2. Hawkins RK, Jansen HG, Sanyal S. Development and degeneration of retina in rds mutant mice: Photoreceptor abnormalities in the heterozygotes. Exp Eye Res. 1985;41:701-720.
3. Sanyal S. Cellular site of expression and genetic interaction of the rd and rds loci in the retina of the mouse. In: Hollyfield JG Anderson RE, LaVail MM, eds. Degenerative Retinal Disorders: Clinical and Laboratory Investigations. New York: Alan R Liss; 1987:175-194.
4. Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature. 1989;338:70-73.
5. Connell GJ, Molday RS. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochemistry. 1990;29:4691-4698.
6. Connell GJ, Bascom RA, Molday LL, Reid D, McInnes RR, Molday RS. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci USA. 1991;88:723-726.
7. Travis GH, Christerson L, Danielson PE, et al. The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA. Genomics. 1991;10:733-739.
8. Travis GH, Sutcliffe JG, Bok D. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron. 1991;6: 61-70.
9. Molday RS. Peripherin/rds and rom-1: Molecular properties and role in photoreceptor cell degeneration. In: Chader G, Osborne N, eds. Progress in Retinal and Eye Research. London: Pergamon Press; 1994:271-299.
10. Travis GH, Groshan KR, Lloyd M, Bok D. Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron. 1992;9:113-119.
11. Ma J, Norton JC, Allen AC, et al. Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplorype-specific element into protein coding exon II. Genomics. 1995;28:212-219.
12. Bird AC. Retinal photoreceptor dystrophies. Am J Ophthalmol. 1995;119:543-562.
13. Kajiwara K, Sandberg OMA, Berson EL, Dryja TP. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nature Genet. 1993;3:208-212.
14. Wells JA, Wroblewski JJ, Keen TJ, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet. 1993;3:213-218.
15. Lam BL, Vandenburgh K, Sheffield VC, Stone EM. Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (Arginine-46-stop). Am J Ophthalmol. 1995;119:65-71.
16. Apfelstedt-Sylla E, Theischen M, Ruther K, Wedemann H, Gal A, Zrenner E. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol. 1995;79:28-34.
17. Meins M, Gruning G, Blankenagel A, et al. Heterozygous 'null allele' mutation in the human peripherin/ RDS gene. Hum Mol Genet. 1993;12:2181-2182.
18. Kim RY, Dollfus H, Keen TJ, et al. Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/ RDS gene. Arch Ophthalmol. 1995;113:451-455.
19. Travis GH, Hepler JE. A medley of retinal dystrophies. Nature Genet. 1993;3:191-192.
20. Kemp CM, Jacobson SG, Cideciyan AV, Kimura AE, Sheffield VC, Stone EM. RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. Invest Ophthalmol Vis Sci. 1994;35:3154-3162.
21. Sung C-H, Davenport CM, Hennessey JC, et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA. 1991;188:6481-6488.
22. Macke JP, Davenport CM, Jacobson SG, et al. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: Implications for the structure and function of rhodopsin. Am J Hum Genet. 1993; 53:80-89.
23. Jacobson SG, Kemp CM, Cideciyan AV, Macke JP, Sung CH, Nathans J. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1994;35:2521-2534.
24. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucl Acids Res. 1989;17:8390.
25. Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genet. 1993;3:202-207.
26. Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM. A 2-base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Hum Mol Genet. 1993;2:601-603.
27. Nichols BE, Bascom R, Litt M, McInnes R, Sheffield VC, Stone EM. Refining the locus for Best's vitelliform macular dystrophy and mutation analysis of the candidate gene ROMl. Am J Hum Genet. 1994;54:95-103.
28. Fishman GA, Stone EM, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Ophthalmology. 1994;101:1409-1421.
29. Stone EM, Vandenburgh K, Nichols BE, Sheffield VC. Identification of rhodopsin gene mutations using GC-clamped denaturing gradient gel electrophoresis. In: Hargrave P, ed. Photoreceptor Cells. Orlando: Academic Press; 1993:377-392.
30. Jacobson SG, Voigt WJ, Parel J-M, Nghiem-Phu L, Myers SW, Patella VM. Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology. 1986;93:1604-1611.
31. Lamb TD. The involvement of rod photoreceptors in dark adaptation. Vision Res. 1981;21:1773-1782.
32. Jacobson SG, Yagasaki K, Feuer WJ, Roman AJ. Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa. Exp Eye Res. 1989;48:679-691.
33. Cideciyan AV, Jacobson SG. Negative electroretinograms in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1993;34:3253-3263.
34. Granit R. The components of the retinal action potential in mammals and their relation to the discharge in the optic nerve. J Physiol. 1993;77:207-239.
35. Hood DC, Birch DG. A quantitative measure of the electrical activity of human rod photoreceptors using electroretinography. Vis Neurosci. 1990;5:379-387.
36. Cideciyan AV, Jacobson SG. An alternative phototransduction model for human rod and cone ERG a-waves: Normal parameters and variation with age. Vision Res. 1996; in press.
37. Hood DC, Birch DG. Rod phototransduction in retinitis pigmentosa: Estimation and interpretation of parameters derived from the rod a-wave. Invest Ophthalmol Vis Sci. 1994;35:2948-2961.
38. Travis GH. Molecular characterization of the retinal degeneration slow (rds) mutation in the mouse. In: Molecular Biology of the Retina: Basic and Clinically Relevant Studies. New York: Wiley-Liss; 1991:87-114.
39. Birch DG, Kedzierski W, Nusinowitz S, Anderson JL, Travis GH. Rod photoreceptor function in transgenic mice expressing mutant rds/peripherin. ARVO Abstracts. Invest Ophthalmol Vis Sci. 1995;36:S641.
40. Reiser NA, Williams TP, Pugh EN. The effect of light history on the aspartate isolated fast PIII responses of the albino rat retina. Invest Ophthalmol Vis Sci. 1996; 37:221-229.
41. Chang GQ, Hao Y, Wong F. Apoptosis: Final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice. Neuron. 1993;11:595-605.
42. Porter-Calillau CP, Sung CH, Nathans J, Adler R. Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa. Proc Natl Acad Sci USA. 1994;91:974-978.
43. Gruning G, Millan JM, Meins M, et al. Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. Hum Mutat. 1994;3:321-323.
44. Suthers GK, Davies KE. Phenotypic heterogeneity and the single gene. Am J Hum Genet. 1992;50:887-891.
45. Vogelstein B, Kinzler KW. The multistep nature of cancer. Trends Genet. 1993;9:138-141.
46. Jacobson SG, Kemp CM, Sung C-H, Nathans J. Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. Am J Ophthalmol. 1991;112:256-271.
47. Kemp CM, Jacobson SG, Roman AJ, Sung, C-H, Nathans J. Abnormal rod adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation. Am J Ophthalmol. 1992;113:165-174.
48. Olsson JE, Gorden JW, Pawlyk BS, et al. Transgenic mice with a rhodopsin mutation (pro-23-his): A mouse model of autosomal dominant retinitis pigmentosa. Neuron. 1992;9:815-830.
49. Naash MI, Hollyfield JG, Al-Ubaidi MR, Baehr W. Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutant opsin gene. Proc Natl Acad Sci USA. 1993;90:5499-5503.
50. Li Z-Y, Jacobson SG, Milam AH. Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: Retinal histopathology and immunocytochemistry. Exp Eye Res. 1994;58:397-408.
51. Goto Y, Peachey NS, Ripps H, Naash MI. Functional abnormalities in transgenic mice expressing a mutant rhodopsin gene. Invest Ophthalmol Vis Sci. 1995;36:62-71.
52. Milam AH, Li Z-Y, Cideciyan AV, Jacobson SG. Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1996;37:753-765.
53. Goldberg AFX, Moritz OL, Molday RS. Expression and assembly of peripherin/RDS and the peripherin/ RDS-rom-1 complex in COS-1 cells. ARVO Abstracts. Invest Ophthalmol Vis Sci. 1994;35:1834.
54. Bhatia PK, Travis GH. RDS/peripherin and rom-1: A new class of adhesion molecules. Invest Ophthalmol Vis Sci. 1994;35:1834.