Guanylate cyclase activating proteins, guanylate cyclase and disease

Advances in Experimental Medicine and Biology

Volumn 514, Issue , 2002, Pages 411-438

  Newbold, Richard J ^a   Deery, Evelyne C ^a   Payne, Annette M ^b   Wilkie, Susan E ^c   Hunt, David M ^c   Warren, Martin J ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b BRUNEL UNIVERSITY   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING PROTEIN; CALCIUM ION; CYCLIC GMP; GUANYLATE CYCLASE; GUANYLATE CYCLASE 1; GUANYLATE CYCLASE ACTIVATOR; PROTEINASE; UNCLASSIFIED DRUG;

ARTICLE; CELL DEATH; CELL DISRUPTION; DIMERIZATION; DISEASE ASSOCIATION; ENZYME ACTIVITY; GENE MUTATION; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINA CONE; RETINA DEGENERATION; RETINA DISEASE; RETINA DYSTROPHY; RETINA ROD; THERMOSTABILITY;

EID: 0036983135     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-0121-3_25     Document Type: Article

References (70)

1. 2+ in vertebrate photoreceptor excitation and adaptation. Annu Rev Physiol 1992; 54:153-175.
2. 2+! The physiology and pathology of Ca(2+)-binding proteins in the retina. Trends Neurosci 1996; 19:547-554.
3. Dizhoor AM, Hurley JB. Regulation of photoreceptor membrane guanylyl cyclases by guanylyl cyclase activator proteins. Methods 1999; 19:521-531.
4. Surguchov A, Bronson JD, Banerjee P et al. The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1). Genomics 1997; 39:312-322.
5. Payne AM, Downes SM, Bessant DA et al. Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies. J Med Genet 1999; 36:691-693.
6. Haeseleer F, Sokal I, Li N et al. Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily. J Biol Chem 1999; 274:6526-6535.
7. Imanishi Y, Li N, Sokal I et al. Characterization of retinal guanylate cyclase-activating protein 3 (GCAP3) from zebrafish to man. Eur J Neurosci 2002; 15:63-78.
8. Yang, R-B, Robinson SW, Xiong W-H et al. Disruption of a Retinal Guanylyl Cyclase Gene Leads to Cone-Specific Dystrophy and Paradoxical Rod Behavior. J Neurosci 1999; 19:5889-5897.
9. Kelsell RE, Gregory-Evans K, Payne AM et al. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Human Molecular Genetics 1998; 7:1179-1184.
10. Perrault I, Rozet JM, Gerber S et al. A retGC-1 mutation in autosomal dominant cone-rod dystrophy. Am J Hum Genet 1998; 63:651-654.
11. Moore AT, Evans K Molecular genetics of central retinal dystrophies Aust N.Z. J Ophthalmology 1996; 24:189-98.
12. Nakazawa M, Kikawa E, Chida Y et al. Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone rod degeneration. Hum Mol Genet 1996; 3:1195-1196.
13. Freund CL, Gregory-Evans CY, Furukawa T et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997; 91:543-553.
14. Swain PK, Chen S, Wang QL. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 1997; 19:1329-1336.
15. Payne AM, Downes SM, Bessant DA et al. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet 1998; 7:273-277.
16. Downes SM, Holder GE, Fitzke FW et al. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Arch Ophthalmol 2001; 119:96-105.
17. Wilkie SE, Li Y, Deery EC et al. Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. Am J Hum Genet 2001; 69:471-480.
18. Perrault I, Rozet JM, Calvas P et al. Retinal specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nature Genet 1996; 14:461-464.
19. Duda T, Venkataraman V, Goraczniak R et al. Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. Biochemistry 1999; 38:509-515.
20. Yu H, Olshevskaya E, Duda T et al. Activation of retinal guanylyl cyclase-1 by Ca2+-binding proteins involves its dimerization. J Biol Chem 1999; 274:15547-55.
21. Ramamurthy V, Tucker C, Wilkie SE et al. Interactions within the coiled-coil domain of RetGC-1 guanylyl cyclase are optimized for regulation rather than for high affinity. J Biol Chem 2001; 276:26218-26229.
22. Gregory-Evans K, Kelsell RE, Gregory-Evans CY et al. Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. Ophthalmology 2000; 107:55-61.
23. Weigell-Weber M, Fokstuen S, Torok B et al. Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? Arch Ophthalmol 2000; 118:300.
24. Payne AM, Morris AG, Downes SM et al. Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. J Med Genet 2001; 38:611-614.
25. Downes SM, Payne AM, Kelsell RE et al. Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1 Arch. Ophthalmology 2001; 119:1667-1673.
26. Sokal I, Haeseleer F, Arendt A. Identification of a guanylyl cyclase-activating protein-binding site within the catalytic domain of retinal guanylyl cyclase. Biochemistry 1999; 38:1387-1393.
27. Gorczyca WA, Polans AS, Surgucheva IG et al. Guanylate cyclase activating protein: a calcium-sensitive regulator of phototransduction. J Biol Chem 1995; 270:22029-22036.
28. Yu H, Olshevskaya E, Duda T et al. Activation of retinal guanylyl cyclase-1 by Ca2+-binding proteins involves its dimerization. J Biol Chem 1999; 274:15547-15555.
29. Palczewski K, Subbaraya I, Gorczyca WA et al. Molecular cloning and characterization of retinal photoreceptor guanylyl cyclase-activating protein. Neuron 1994; 13:395-404.
30. Payne AM, Downes SM, Bessant DA et al. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet 1998; 7:273-277.
31. Garbers DL, Dyer E, Hardman JG. Effects of cations on guanylate cyclase of sea urchin sperm. J Biol Chem 1975; 250:382-387.
32. Wilkie SE, Newbold RJ, Deery EC et al. Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. Hum Mol Genet 2000; 9:3065-3073.
33. Lupas A, Van Dyke M, Stock J. Predicting Coled Coils from Protein Sequences. Science 1991; 252:1162-1164.
34. Duda T, Krishnan A, Venkataraman V et al. Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling. Biochemistry 1999; 38:13912-13919.
35. Duda T, Venkataraman V, Jankowska A et al. Impairment of the rod outer segment membrane guanylate cyclase dimerization in a cone-rod dystrophy results in defective calcium signaling. Biochemistry 2000; 39:12522-12533.
36. Tucker CL, Woodcock SC, Kelsell RE et al. Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy. Proc Natl Acad Sci USA 1999; 96:9039-9044.
37. Coetzer TL, Sahr K, Prchal J et al. Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis. J Clin Invest 1991; 88:743-749.
38. Hovnanian A, Pollack E, Hilal L et al. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Nature Genetics 1993; 3:327-332.
39. Otto-Bruc A, Fariss RN, Haeseleer F et al. Localization of guanylate cyclase-activating protein 2 in mammalian retinas. Proc Natl Acad Sci USA 1997; 94:4727-32.
40. Cuenca N, Lopez S, Howes K et al. The localization of guanylyl cyclase-activating proteins in the mammalian retina. Invest Ophthalmol Vis Sci 1998; 39:1243-1250.
41. Kachi S, Nishizawa Y, Olshevskaya E et al. Detailed localization of photoreceptor guanylate cyclase activating protein-1 and -2 in mammalian retinas using light and electron microscopy. Exp Eye Res 1999; 68:465-473.
42. Dizhoor AM, Lowe DG, Olshevskaya EV et al. The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator. Neuron 1994; 12:1345-1352.
43. Dizhoor AM, Olshevskaya EV, Henzel WJ et al. Cloning, sequencing, and expression of a 24-kDa Ca(2+)-binding protein activating photoreceptor guanylyl cyclase. J Biol Chem 1995; 270:25200-25206.
44. Lowe DG, Dizhoor AM, Liu K et al. Cloning and expression of a second photoreceptor specific membrane guanylyl cyclase (RetGC), RetGC-2. Proc Nat Acad Sci. USA 1995; 92:5535-5539.
45. Ikura M, Clore GM, Gronenborn AM et al. Solution structure of a calmodulin-target peptide complex by multidimensional NMR. Science 1992; 256:632-638.
46. Tanaka T, Ames JB, Harvey TS et al. Sequestration of the membrane-targeting myristoyl group of recoverin in the calcium-free state. Nature 1995; 376:444-447.
47. Sokal I, Li N, Klug CS et al. Calcium-sensitive regions of GCAP1 as observed by chemical modifications, fluorescence, and EPR spectroscopies. J Biol Chem 2001; 276:43361-43373.
48. Ermilov AN, Olshevskaya EV, Dizhoor AM. Instead of Binding Calcium, One of the EF-hand Structures in Guanylyl Cyclase Activating Protein-2 is Required for Targeting Photoreceptor Guanylyl Cyclase. J Biol Chem 2001; 276:481-438.
49. Flaherty KM, Zozulya S, Stryler L et al. Three-dimensional structure of recoverin, a calcium sensor in vision. Cell 1993; 75:709-716.
50. Ames JB, Ishima R, Tanaka T et al. Molecular mechanics of calcium-myristoyl switches. Nature 1997; 389:198-202.
51. Ames JB, Dizhoor AM, Ikura M et al. Three-dimensional structure of guanylyl cyclase activating protein-2, a calcium-sensitive modulator of photoreceptor guanylyl cyclases. J Biol Chem 1999; 274:19329-19337.
52. Frins S, Bonigk W, Muller F et al. Functional characterization of a guanylyl cyclase-activating protein from vertebrate rods. Cloning, heterologous expression, and localization. J Biol Chem 1996; 271:8022-8027.
53. Kretsinger RH, Rudnick SE, Weissman LJ. Crystal structure of calmodulin. J Inorg Biochem 1986; 28:289-302.
54. Babu YS, Bugg C, Cook WJ. Structure of calmodulin refined at 2.2A resolution. J Mol Biol 1988; 204:191-204.
55. Griffiths JP, Kim JL, Kim EE et al. X-Ray structure of calcineurin inhibited by the immunophilin-immuno-suppressant FKBP12-FK506 complex. Cell 1995; 82:507-522.
56. Miller S, Janin J, Lesk AM et al. Interior and surface of monomeric proteins. J Mol Biol 1987; 196:641-56.
57. Semple-Rowland SL, Gorczyca WA et al. Expression of GCAP1 and GCAP2 in the retinal degeneration (rd) mutant chicken retina. FEBS Lett 1996; 385:47-52.
58. Pittler SJ, Baehr W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc Natl Acad Sci USA 1991; 88:322-326.
59. Farber DB, Danciger JS, Aguirre G. The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1. Neuron 1992; 9:349-356.
60. Laura RP, Dizhoor AM, Hurley JB. The membrane guanylyl cyclase retinal guanylyl cyclase-1 is activated through its intracellular domain. J Biol Chem 1996; 271:11646-11651.
61. Sokal I, Li N, Surgucheva I et al. GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Mol Cell 1998; 2:129-133.
62. Kretsinger RH. Structure and evolution of calcium-modulated proteins. Crit Rev Biochem. 1976; 8:119-174.
63. Liu X, Seno K, Nishizawa Y et al. Ultrastructural localization of retinal guanylate cyclase in human and monkey retinas. Exp Eye Res 1994; 59:761-768.
64. Rudnicka-Nawrot M, Surgucheva I, Hulmes JD et al. Changes in biological activity and folding of guanylate cyclase-activating protein 1 as a function of calcium. Biochemistry 1998; 37:248-257.
65. Subbaraya I, Ruiz CC, Helekar BS et al. Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene. J Biol Chem 1994; 269:31080-31089.
66. Taylor MR, Niemi GA, Tucker et al. Zebrafish phototransduction genes. Unpublished results, 2001; Accession AY050501.
67. 2+-binding protein related to mammalian guanylate-cyclase-activating proteins. Eur J Biochem 1998; 252:591-599.
68. Wilkie SE, Stinton I, Cottrill P et al. Characterisation of two genes for guanylate cyclase activator protein (GCAP1 and GCAP2) in the Japanese Pufferfish, Fugu rubripes. (submitted) 2002.
69. 2+-binding proteins n the retina: from discovery to etiology of human disease. Biochim Biophys Acta 2000; 1498:233-251.
70. Newbold RJ, Deery EC, Walker CE et al. The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy. Hum Mol Genet 2001; 10:47-54.