Mutation in the guanine nucleotide-binding protein β-3 causes retinal degeneration and embryonic mortality in chickens

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 11, 2006, Pages 4714-4718

  Tummala, Hemanth ^a   Ali, Manir ^b   Getty, Paul ^a   Hocking, Paul M ^c   Burt, David W ^c   Inglebearn, Chris F ^b   Lester, Douglas H ^a  

^a UNIVERSITY OF ABERTAY DUNDEE   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODY; ASPARTIC ACID; CYTOSINE; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN B3; THYMINE; TRANSDUCIN; UNCLASSIFIED DRUG; G PROTEIN BETA3 SUBUNIT; G-PROTEIN BETA3 SUBUNIT; HETEROTRIMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; MESSENGER RNA; MICROSATELLITE DNA;

AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BASE PAIRING; BLINDNESS; CHROMOSOME 1; COMPUTER MODEL; CONTROLLED STUDY; EMBRYO; EMBRYO DEATH; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GNB3 GENE; IMMUNOREACTIVITY; LINKAGE ANALYSIS; MICROSATELLITE MARKER; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGENY; PROTEIN DOMAIN; PROTEIN EXPRESSION; RETINA CONE; RETINA DEGENERATION; RGE GENE; RISK FACTOR; SEQUENCE ANALYSIS; ANIMAL; BIRD DISEASE; CHICK EMBRYO; CHICKEN; EMBRYO DEVELOPMENT; EYE; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HYPERTROPHY; IMMUNOBLOTTING; METABOLISM; MORTALITY; MUTATION; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ANIMALS; BLINDNESS; CHICK EMBRYO; CHICKENS; EMBRYONIC DEVELOPMENT; EYE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROTRIMERIC GTP-BINDING PROTEINS; HYPERTROPHY; IMMUNOBLOTTING; LINKAGE (GENETICS); MICROSATELLITE REPEATS; MUTATION; POULTRY DISEASES; RETINAL DEGENERATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSDUCIN;

EID: 34247148509     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0292     Document Type: Article

References (39)

1. Hillier LW, Miller W, Birney E, et al. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature. 2004;432:695-716.
2. Fokina VM, Frolova EI. Expression patterns of Wnt genes during development of an anterior part of the chicken eye. Dev Dyn. 2006;235:496-505.
3. Semple-Rowland SL, Lee NR, Van Hooser JP, Palczewski K, Baehr W. A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc Natl Acad Sci USA. 1998;95:1271-1276.
4. Pollock BJ, Wilson MA, Randall CJ, Clayton RM. Preliminary observations of a new blind chick mutant (beg). In: Clayton RM, Haywood J, Reading HW, Wright A, eds. Problems of Normal and Genetically Abnormal Retinas. London: Academic Press; 1982:241-247.
5. Randall CJ, McLachlan I. Retinopathy in commercial layers. Vet Rec. 1979;105:41-42.
6. Wilson MA, Pollock BJ, Clayton RM, Randall CJ. Early development of a new RP-like mutant in the chick. In: Clayton RM, Haywood J, Reading HW, Wright A, eds. Problems of Normal and Genetically Abnormal Retinas. London: Academic Press;1982:233-239.
7. Randall CJ, Wilson MA, Pollock BJ, et al. Partial retinal dysplasia and subsequent degeneration in a mutant strain of domestic fowl (rdd). Exp Eye Res. 1983;37:337-347.
8. Smyth JR Jr, Boissy RE, Fite KV. The DAM chicken: a model for spontaneous postnatal cutaneous and ocular amelanosis. J Hered. 1981;72:150-156.
9. Curtis PE, Baker JR, Curtis R, Johnston A. Impaired vision in chickens associated with retinal defects. Vet Rec. 1987;120:113-114.
10. Curtis R, Baker JR, Curtis PE, Johnston A. An inherited retinopathy in commercial breeding chickens. Avian Pathol. 1988;17:87-99.
11. Burt DW, Morrice DR, Lester DH, et al. Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa. Mol Vis. 2003;9:164-170.
12. Meyer DB. The avian eye and vision. In: Sturkei PD, Benzo CA, eds. Avian Pathology. New York: Springler-Verlag; 1986:38-69.
13. Burt DW, Bruley C, Dunn IC, et al. The dynamics of chromosome evolution in birds and mammals. Nature. 1999;402:411-413.
14. Inglehearn CF, Morrice DR, Lester DH, et al. Genetic, ophthalmic, morphometric and histopathological analysis of the retinopathy globe enlarged (rge) chicken. Mol Vis. 2003;9:295-300.
15. Montiani-Ferreira F, Fischer A, Cernuda-Cernuda R, et al. Detailed histopathologic characterization of the retinopathy, globe enlarged (rge) chick phenotype. Mol Vis. 2005;11:11-27.
16. Peng YW, Robishaw JD, Levine MA, Yau KW. Retinal rods and cones have distinct G protein beta and gamma subunits. Proc Natl Acad Sci USA. 1992;89:10882-10886.
17. den Dunnen JT, Antonarakis E. Nomenclature for the description of human sequence variations. Hum Genet. 2001;109:121-124.
18. Smith TF, Gaitatzes C, Saxena K, Neer EJ. The WD repeat: a common architecture for diverse functions. Trends Biochem Sci. 1999;24:181-185.
19. Li D, Roberts R. WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases. Cell Mol Life Sci. 2001;58:2085-2097.
20. Sondek J, Bohm A, Lambright DG, Hamm HE, Sigler PB. Crystal structure of a G-protein beta gamma dimer at 2.1A resolution. Nature. 1996;379:297-299.
21. Vriend G. WHAT IF: a molecular modelling and drug design program. J Mol Graph. 1990;8:52-56.
22. Tramontano A, Morea V. Assessment of homology-based predictions in CASP5. Proteins. 2003;53:352-368.
23. Dolph PJ, Man-Son-Hing H, Yarfitz S, et al. An eye-specific G beta subunit essential for termination of the phototransduction cascade. Nature. 1994;370:59-61.
24. Levine MA, Smallwood PM, Moen PT Jr, Helman, LJ, Ahn TG. Molecular cloning of beta-3 subunit, a third form of the G protein beta-subunit polypeptide. Proc Natl Acad Sci USA. 1990;87:2329-2333.
25. Gao YQ, Danciger M, Akhmedov NB, et al. Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease. Mol Vis. 1998;4:16.
26. Siffert W, Rosskopf D, Siffert G, et al. Association of a human G-proteln beta3 subunit variant with hypertension. Nat Genet. 1998;18:45-48.
27. Siffert W, Forster P, Jockel KH, et al. Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals. J Am Soc Nephrol. 1999;10:1921-1930.
28. Meirhaeghe A, Bauters C, Helbecque N, et al. The human G-protein beta3 subunit C825T polymorphism is associated with coronary artery vasoconstriction. Eur Heart J. 2001;22:845-848.
29. Morrison AC, Doris PA, Folsom AR, Nieto FJ, Boerwinkle E. Atherosclerosis Risk in Communities Study: G-protein beta3 subunit and alpha-adducin polymorphisms and risk of subclinical and clinical stroke. Stroke. 2001;32:822-829.
30. Lin CN, Tsai SJ, Hong CJ. Association analysis of a functional G protein beta3 subunit gene polymorphism (C825T) in mood disorders. Neuropsychobiology. 2001;44:118-122.
31. Kiani JG, Saeed M, Parvez SH, Frossard PM. Association of G-protein beta-3 subunit gene (GNB3) T825 allele with type II diabetes. Neuro Endocrin Lett. 2005;26:87-88.
32. Ruiz-Velasco V, Ikeda SR. A splice variant of the G protein b3-subunit implicated in disease states does not modulate ion channels. Physiol Genomics. 2003;13:85-95.
33. Shcherbak NS, Schwartz EI. The C825T polymorphism in the G-protein beta3 subunit gene and diabetic complications in IDDM patients. J Hum Genet. 2001;46:188-191.
34. Chen CK, Eversole-Cire P, Zhang H, et al. Instability of GGL domain-containing RGS proteins in mice lacking the G protein beta-subunit Gbeta5. Proc Natl Acad Sci USA. 2003;100:6604-6609.
35. Kitamura E, Danciger M, Yamashita C, et al. Disruption of the gene encoding the β1-subunit of transducin in the Rd4/+ mouse. Invest Ophthalmol Vis Sci. 2006;47:1293-1301.
36. Simmer F, Moorman C, van der Linden AM, et al. Genome-wide RNAi of C. elegans using the hypersensitive rrf-3 strain reveals novel gene functions. PLoS Biol. 2003;1:E12.
37. Semple-Rowland SL, Lee NR. Avian models of inherited retinal disease. Methods Enzymol. 2000;316:526-536.
38. Van Leeuwen R, Ikram MK, Vingerling JR, Witteman JC, Hofman A, de Jong PT. Blood pressure, atherosclerosis, and the incidence of age-related maculopathy: the Rotterdam Study. Invest Ophthalmol Vis Sci. 2003;44:3771-3777.
39. Clemons TE, Milton RC, Klein R, Seddon JM, Ferris FL 3rd, Age-Related Eye Disease Study Research Group. Risk factors for the incidence of advanced age-related macular degeneration in the Age-Related Eye Disease Study (AREDS): AREDS report no. 19. Ophthalmology. 2005;112:533-539.