Phototransduction in transgenic mice

Current Opinion in Neurobiology

Volumn 6, Issue 4, 1996, Pages 453-458

  Lem, Janis ^a   Makino, Clint L ^b  

^a TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PHOSPHODIESTERASE; RETINA S ANTIGEN; RHODOPSIN;

MOUSE; NONHUMAN; PHOTOACTIVATION; PHOTOTRANSDUCTION; PRIORITY JOURNAL; RETINA DISEASE; REVIEW; TRANSGENIC MOUSE;

EID: 0030219020     PISSN: 09594388     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-4388(96)80049-3     Document Type: Article

References (45)

1. Lamb TD, Pugh ENJ. A quantitative account of the activation steps involved in phototransduction in amphibian photoreceptors. J Physiol (Lond). 449:1992;719-758.
2. Pugh ENJ, Lamb TD. Amplification and kinetics of the activation steps in phototransduction. Biochim Biophys Acta. 1141:1993;111-149.
3. Selinger Z, Doza YN, Minke B. Mechanisms and genetics of photoreceptors desensitization in Drosophila flies. Biochim Biophys Acta. 1179:1993;283-299.
4. Pak WL. Drosophila in vision research. of special interest Invest Ophthalmol Vis Sci. 36:1995;2340-2357 See annotation [5].
5. Zuker CS. The biology of vision in Drosophila. of special interest Proc Natl Acad Sci USA. 93:1996;571-576 This paper, with [3,4], is a summary of invertebrate phototransduction. By highlighting significant advances achieved from random mutagenesis and transgenic work on Drosophila, the paper illustrates the power of genetic approaches.
6. Lem J, Applebury ML, Falk JD, Flannery JG, Simon MI. Tissue-specific and developmental regulation of rod opsin chimeric genes in transgenic mice. Neuron. 6:1991;201-210.
7. Zack DJ, Bennett J, Wang Y, Davenport C, Klaunberg B, Gearhart J, Nathans J. Unusual topography of bovine rhodopsin promoter - lacZ fusion gene expression in transgenic mouse retinas. Neuron. 6:1991;187-199.
8. Huang PC, Gaitan AE, Hao Y, Petters RM, Wong F. Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene. Proc Natl Acad Sci USA. 90:1993;8484-8488.
9. Yokoyama T, Liou GI, Caldwell RB, Overbeek PA. Photoreceptor-specific activity of the human interphotoreceptor retinoid-binding protein (IRBP) promoter in transgenic mice. Exp Eye Res. 55:1992;225-233.
10. Hogan B, Constantini F, Lacy E. Manipulating the Mouse Embryo: a Laboratory Manual. 1986;Cold Spring Harbor Laboratory, Cold Spring Harbor.
11. Capecchi MR. Targeted gene replacement. Sci Am. 270:1994;52-59.
12. Soriano P. Gene targeting in ES cells. of special interest Annu Rev Neurosci. 18:1995;1-18 This paper and [11] provide an overview of the methods used for knocking out a protein or for completely replacing a protein with a mutant form. In this method of targeted gene expression, the transgene exchanges with the native gene by homologous recombination. This method has the additional advantage that transgene expression remains under the control of the normal upstream and downstream regulatory domains.
13. Te Riele H, Maandag ER, Berns A. Highly efficient gene targeting in embryonic stem cells through homologous recombination with isogenic DNA constructs. Proc Natl Acad Sci USA. 89:1992;5128-5132.
14. Askew CR, Doetschman T, Lingrel JB. Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy. Mol Cell Biol. 13:1993;4115-4124.
15. Hasty P, Ramirez-Solis R, Krumlauf R, Bradley A. Introduction of a subtle mutation into the HOX-2.6 locus in embryonic stem cells. Nature. 350:1991;243-246.
16. Wu H, Liu X, Jaenisch R. Double replacement: strategy for efficient introduction of subtle mutations into the murine col1a-1 gene by homologous recombination in embryonic stem cells. Proc Natl Acad Sci USA. 91:1994;2819-2823.
17. Olsson JE, Gordon JW, Pawlyk BS, Roof D, Hayes A, Molday RS, Mukai S, Cowley GS, Berson EL, Dryja TP. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron. 9:1992;815-830.
18. Raport CJ, Lem J, Makino C, Chen CK, Fitch CL, Hobson A, Baylor D, Simon MI, Hurley JB. Downregulation of cGMP phosphodiesterase induced by expression of GTPase-deficient cone transducin in mouse rod photoreceptors. Invest Ophthalmol Vis Sci. 35:1994;2932-2947.
19. Palczewski K, Buczylko J, Ohguro H, Annan RS, Carr SA, Crabb JW, Kaplan MW, Johnson RS, Walsh KA. Characterization of a truncated form of arrestin isolated from bovine rod outer segments. Protein Sci. 3:1994;314-324.
20. Smith WC, Milam AH, Dugger D, Arendt A, Hargrave PA, Palczewski K. A splice variant of arrestin: molecular cloning and localization in bovine retina. J Biol Chem. 269:1994;15407-15410.
21. Chen J, Makino CL, Peachey NS, Baylor DA, Simon MI. Mechanisms of rhodopsin inactivation in vivo as revealed by a COOH-terminal truncation mutant. of outstanding interest Science. 267:1995;374-377 Mutant rhodopsin, in which the carboxyl terminal phosphorylation sites were deleted, gave rise to striking, prolonged photoresponses in rods of transgenic mice. The size and kinetics of these responses revealed much about the role of phosphorylation in quenching the catalytic activity of photoactivated rhodopsin.
22. Cornwall MC, Fain GL. Bleached pigment activates transduction in isolated rods of the salamander retina. J Physiol (Lond). 480:1994;261-279.
23. Keen TJ, Inglehearn CF, Lester DH, Bashir R, Jay M, Bird AC, Jay B, Bhattacharya SS. Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics. 11:1991;199-205.
24. Robinson PR, Buczylko J, Ohguro H, Palczewski K. Opsins with mutations at the site of chromophore attachment constitutively activate transducin but are not phosphorylated by rhodopsin kinase. Proc Natl Acad Sci USA. 91:1994;5411-5415.
25. Rim J, Oprian DD. Constitutive activation of opsin: interaction of mutants with rhodopsin kinase and arrestin. Biochemistry. 34:1995;11938-11945.
26. Li T, Franson WK, Gordon JW, Berson EL, Dryja TP. Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. of outstanding interest Proc Natl Acad Sci USA. 92:1995;3551-3555 Although controversial, the rhodopsin mutant Lys296Glu has been observed to exhibit high light-independent catalytic activity in a reconstituted system. However, when expressed in rod cells of transgenic mice, activity of the Lys296Glu mutant is prevented by persistent phosphorylation and binding to arrestin. This suggests that the retinal degeneration induced by Lys296Glu is not attributable to overexcitation of the rod cell.
27. Rao VR, Cohen GB, Oprian DD. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature. 367:1994;639-642.
28. Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. Dark-light: model for night blindness from the human rhodopsin Gly-90-Asp mutation. Proc Natl Acad Sci USA. 92:1995;880-884.
29. 2+ in vertebrate phototransduction. Behav Brain Sci. 18:1995;425-428.
30. Tsang SH, Gouras P, Yamashita CK, Kjeldbye H, Fisher J, Farber DB, Goff SP. Retinal degeneration in mice lacking the γ subunit of the rod cGMP phosphodiesterase. of outstanding interest Science. 272:1996;1026-1029 Knockout of the inhibitory γ subunit of the rod phosphodiesterase (PDE) resulted in a decrease in basal cGMP hydrolytic activity and eliminated the light activatable activity. The low basal PDE activity is contrary to what was expected and indicates that PDEγ is required for functional PDE enzymatic activity in the intact rod.
31. Chang G-Q, Hao Y, Wong F. Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice. Neuron. 11:1993;595-605.
32. Portera-Cailliau C, Sung CH, Nathans J, Adler R. Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa. Proc Natl Acad Sci USA. 91:1994;974-978.
33. Bowes C, Li T, Danciger M, Baxter LC, Applebury ML, Farber DB. Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase. Nature. 347:1990;677-680.
34. Pittler SJ, Baehr W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase β-subunit gene of the rd mouse. Proc Natl Acad Sci USA. 88:1991;8322-8326.
35. 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. 338:1989;70-73.
36. Connell G, Bascom R, Molday L, 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. 88:1991;723-726.
37. Lem J, Flannery JG, Li T, Applebury ML, Farber DB, Simon MI. Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase β subunit. Proc Natl Acad Sci USA. 89:1992;4422-4426.
38. Travis GH, Groshan KR, Lloyd M, Bok D. Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron. 9:1992;113-119.
39. Gouras P, Du J, Kjeldbye H, Kwun R, Lopez R, Zack DJ. Transplanted photoreceptors identified in dystrophic mouse retina by a transgenic reporter gene. Invest Ophthalmol Vis Sci. 32:1991;3167-3174.
40. Miller JL, Korenbrot JI. Phototransduction and adaptation in rods, single cones, and twin cones of the striped bass retina: a comparative study. Vis Neurosci. 10:1993;653-667.
41. Perry RJ, McNaughton PA. Response properties of cones from the retina of the tiger salamander. J Physiol (Lond). 433:1991;561-587.
42. Woodford BJ, Chen J, Simon MI. Expression of rhodopsin promoter transgene product in both rods and cones. Exp Eye Res. 58:1994;631-635.
43. Chiu MI, Nathans J. Blue cones and cone bipolar cells share transcriptional specificity as determined by expression of human blue visual pigment-derived transgenes. J Neurosci. 14:1994;3426-3436.
44. Chiu MI, Nathans J. A sequence upstream of the mouse blue visual pigment gene directs blue cone-specific transgene expression in mouse retinas. Vis Neurosci. 11:1994;773-780.
45. Chen J, Tucker CL, Woodford B, Szel A, Lem J, Gianella-Borradori A, Simon MI, Bogenmann E. The human blue opsin promoter directs transgene expression in short-wave cones and bipolar cells in the mouse retina. Proc Natl Acad Sci USA. 91:1994;2611-2615.