Genomes and Genes
Gene Symbol: GNAT2
Description: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
Alias: ACHM4, GNATC, cone-type transducin alpha subunit, guanine nucleotide-binding protein G(t) subunit alpha-2, transducin alpha-2 chain, transducin, cone-specific, alpha polypeptide
- Molecular evolutionary analysis of vertebrate transducins: a role for amino Acid variation in photoreceptor deactivationYi G Lin
Department of Ecology and Evolutionary Biology, University of Toronto, Toronto, Canada
J Mol Evol 77:231-45. 2013..Here, we used codon models to examine patterns of sequence evolution in rod (GNAT1) and cone (GNAT2) α subunits...
- Scotopic and photopic visual thresholds and spatial and temporal discrimination evaluated by behavior of mice in a water mazeJanaki Nathan
Department of Biochemistry, University of Washington, Seattle, WA, USA
Photochem Photobiol 82:1489-94. 2006..In this report we describe the sensitivities of rod-mediated and cone-mediated vision using GNAT1-/-and GNAT2-/- mice. Cone-mediated vision is approximately 10,000 times less sensitive than rod-mediated vision in mice...
- Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)M Michaelides
Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
Br J Ophthalmol 87:1317-20. 2003To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2.
- G protein coupling profile of mGluR6 and expression of G alpha proteins in retinal ON bipolar cellsLiantian Tian
Department of Biomedical Sciences, Kent State University, Rootstown, Ohio, USA
Vis Neurosci 23:909-16. 2006..G(i2), G(i3), whereas no coupling was observed with G alpha(z), nor with the retinal G alpha proteins, rod (GNAT2) or cone (GNAT1) transducin (G alpha(Tr-R), G alpha(Tr-C))...
- Chinese hamster transducin gene (GNAT2): genomic organization and peptide conservationB Baron
Unité de Génétique Somatique, Département d immunologie de l Institut Pasteur LA CNRS n degrees 1960, Paris, France
Mamm Genome 7:922-3. 1996
- Expansion of transducin subunit gene families in early vertebrate tetraploidizationsDavid Lagman
Department of Neuroscience, Science for Life Laboratory, Uppsala University, Box 593, SE 751 24 Uppsala, Sweden
Genomics 100:203-11. 2012..in amniotes and the coelacanth, GNAT1-3; two of these were identified in amphibians and teleost fish, GNAT1 and GNAT2. Most tetrapods have four beta genes, GNB1-4, and teleosts have additional duplicates...
- Pineal photoreceptor cells are required for maintaining the circadian rhythms of behavioral visual sensitivity in zebrafishXinle Li
Department of Biological Sciences, Center for Zebrafish Research, University of Notre Dame, Notre Dame, Indiana, United States of America
PLoS ONE 7:e40508. 2012..We generated a transgenic zebrafish line [Tg(Gnat2:gal4-VP16/UAS:nfsB-mCherry)] in which the E. coli nitroreductase is expressed in pineal photoreceptor cells...
- A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl
Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany
Am J Hum Genet 91:527-32. 2012..Its prevalence has been estimated to about 1 in 30,000 individuals. Four genes, GNAT2, PDE6C, CNGA3, and CNGB3, have been implicated in ACHM, and all encode functional components of the ..
- Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architectureSonja I Berndt
US Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 45:501-12. 2013..H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity...
- A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotypeAndrew I Jobling
Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, Victoria, Australia
Invest Ophthalmol Vis Sci 54:3350-9. 2013This work investigates a novel, naturally occurring mouse model of achromatopsia. The specific missense mutation within the Gnat2 gene was identified and the subsequent retinal phenotype characterized.
- Survey of common eye diseases in laboratory mouse strainsBo Chang
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Invest Ophthalmol Vis Sci 54:4974-81. 2013..These eye diseases are retinal degeneration 1 (Pde6b(rd1)), retinal degeneration 8 (Crb1(rd8)), and cone photoreceptor function loss 3 (Gnat2(cpfl3)).
- Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North AmericaLance Doucette
Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland and Labrador, Canada
Ophthalmic Genet 34:119-29. 2013..from Newfoundland, Canada were sequenced for mutations in the four known achromatopsia genes CNGA3, CNGB3, GNAT2, and PDE6C...
- Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphologyRoss F Collery
UCD Conway Institute and UCD School of Biomolecular and Biomedical Sciences, University College Dublin, Dublin 4, Ireland
Exp Eye Res 108:120-8. 2013..cDNAs encoding wildtype and mutant (E837D R838S) RETGC-1 were cloned under the control of the cone-specific gnat2 promoter and microinjected into zebrafish embryos to generate transgenic lines...
- [Progress on study of achromatopsia and targeted gene therapy]Xu feng Dai
School of Optometry and Ophthalmology, Wenzhou Medical College, Wenzhou, China
Zhonghua Yan Ke Za Zhi 48:755-8. 2012..genes have been found to be implicated in achromatopsia-associated mutations: guanine nucleotide-binding protein (GNAT2), cyclic nucleotide-gated channel alpha-3 (CNGA3), cyclic nucleotide-gated channel beta-3 (CNGB3) and ..
- Vigabatrin-induced retinal toxicity is partially mediated by signaling in rod and cone photoreceptorsJin Yang
Department of Ophthalmology, Columbia University, New York, New York, USA
PLoS ONE 7:e43889. 2012..photoreceptor function was involved in the pathway to toxicity, we tested mice with mutations in the cone-specific Gnat2 or rod-specific Pde6g genes, and found the mutations significantly reduced VGB toxicity...
- Functional interchangeability of rod and cone transducin alpha-subunitsWen tao Deng
Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
Proc Natl Acad Sci U S A 106:17681-6. 2009..expressed in cones and cone Talpha expressed in rods in three mouse strains: rod Talpha knockout, cone Talpha GNAT2(cpfl3) mutant, and rod and cone Talpha double mutant rd17 mouse...
- Oligocone trichromacy: clinical and molecular genetic investigationsMette K G Andersen
National Eye Clinic, Kennedy Center, Glostrup, Denmark
Invest Ophthalmol Vis Sci 51:89-95. 2010..To describe the phenotype and genotype of patients with a diagnosis of oligocone trichromacy (OT)...
- A study of candidate genes for day blindness in the standard wire haired dachshundAnne Caroline Wiik
Department of Basic Sciences and Aquatic Medicine, Division of Genetics, Norwegian School of Veterinary Science, PO Box 8146 Dep, 0033 Oslo, Norway
BMC Vet Res 4:23. 2008..Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were selected and evaluated as potential candidate genes associated with day blindness in the breed...
- Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanismXi Qin Ding
Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
Hum Mol Genet 18:4770-80. 2009..protein and mRNA levels were significantly decreased in CNGB3(-/-) mice; in contrast, mRNA levels of S-opsin, Gnat2 and Pde6c were unchanged, relative to WT mice...
- Genetic etiology and clinical consequences of complete and incomplete achromatopsiaAlberta A H J Thiadens
Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands
Ophthalmology 116:1984-9.e1. 2009..To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and assess the association between disease-causing mutations, phenotype at diagnosis, and visual prognosis...
- Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransductionNeena B Haider
Department of Genetics, Cell Biology, and Anatomy, University of Nebraska Medical Center, 985805 Nebraska Medical Center, Omaha, NE 68198 5805, USA
Exp Eye Res 89:365-72. 2009..including the rod specific gene Gnb1 and cone specific genes blue opsin, and two of the cone transducin subunits, Gnat2 and Gnb3. In addition, we identified 5 novel transcripts that are targeted by NR2E3...
- CNGA3 mutations in two United Arab Emirates families with achromatopsiaYachna Ahuja
Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, USA
Mol Vis 14:1293-7. 2008..channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2)...
- Prospects for retinal cone-targeted gene therapyJohn J Alexander
Department of Pathology, Immunology, and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida, USA
Drug News Perspect 21:267-71. 2008..In the Gnat2(cpfl3) mouse model of one genetic form of human achromatopsia, we were able to demonstrate recovery of normal cone ..
- A mutation in gene CNGA3 is associated with day blindness in sheepShay Reicher
Institute of Animal Science, The Volcani Center, Bet Dagan, Israel
Genomics 95:101-4. 2010..To identify gene(s) associated with sheep day blindness, we investigated mutations in the CNGA3, CNGB3, and GNAT2 genes which have been associated with achromatopsia...
- Genome-wide association study of recurrent early-onset major depressive disorderJ Shi
Department of Psychiatry, Stanford University, Stanford, CA, USA
Mol Psychiatry 16:193-201. 2011..Larger samples will be required to confirm the hypothesis of association between MDD (and particularly the recurrent early-onset subtype) and common SNPs...
- [Analysis of cell specific transcription of the human cone transducin alpha subunit gene]T Hirano
Third Department of Internal Medicine, Hokkaido University School of Medicine, Sapporo, Japan
Hokkaido Igaku Zasshi 68:885-93. 1993..By further study utilizing genomic sequencing, HeLa DNA was methylated in contrast to Y79, suggesting methylation as one of the transcription-regulating factors of this region...
- Spectral and temporal sensitivity of cone-mediated responses in mouse retinal ganglion cellsYanbin V Wang
Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48105, USA
J Neurosci 31:7670-81. 2011..In mice lacking cone function (Gnat2(cpfl3)), light-adapted rod-mediated responses peaked at ∼ 5-7 Hz...
- Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) miceCorinne Kostic
Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland
PLoS ONE 6:e16588. 2011..the cones (40% of the number found in wild-type animals) in the Rpe65(R91W/R91W) mice expressed cone transducin (GNAT2); this fraction increased to 64% after treatment...
- Visual responses in mice lacking critical components of all known retinal phototransduction cascadesAnnette E Allen
Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom
PLoS ONE 5:e15063. 2010..injection of U73122 (a phospholipase C antagonist), but is inhibited by a missense mutation of cone α transducin (Gnat2(cpfl3)), suggesting Gnat2-dependence...
- Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 geneFarah Ouechtati
Molecular Investigation of Genetic Orphan Diseases Research Unit UR04 SP03, Pasteur Institute, Tunis, Tunisia
J Hum Genet 56:22-8. 2011Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations...
- Dark light, rod saturation, and the absolute and incremental sensitivity of mouse cone visionFrank Naarendorp
Department of Psychology, Northeastern University, Boston, Massachusetts 02115, USA
J Neurosci 30:12495-507. 2010..dissect the contributions of rod and cone pathways, both wild-type mice and mice lacking rod (Gnat1(-/-)) or cone (Gnat2(cpfl3)) function were studied...
- Visual responses in the lateral geniculate evoked by Cx36-independent rod pathwaysTimothy M Brown
Faculty of Life Sciences, University of Manchester, Manchester, UK
Vision Res 51:280-7. 2011..mice lacking a key gap junction protein (Cx36(-/-)) and carrying a mutation that disrupts cone phototransduction (Gnat2(cpfl3))...
- Replacing the rod with the cone transducin subunit decreases sensitivity and accelerates response decayC K Chen
Department of Integrative Biology and Physiology, University of California Los Angeles, 3836 Life Sciences Building, Los Angeles 90095 1606, USA
J Physiol 588:3231-41. 2010..They also indicate more generally that the molecular nature of G-protein alpha may play an important role in the kinetics of G-protein cascades for metabotropic receptors throughout the body...
- Achromatopsia as a potential candidate for gene therapyJi Jing Pang
Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
Adv Exp Med Biol 664:639-46. 2010..nucleotide-gated cation channel), CNGA3 (alpha subunit of the cone cyclic nucleotide-gated cation channel), and GNAT2 (cone specific alpha subunit of transducin)...
- Speed, spatial, and temporal tuning of rod and cone vision in mouseYumiko Umino
Center for Vision Research, Department of Ophthalmology, State University of New York, Upstate Medical University, Syracuse, New York 13210, USA
J Neurosci 28:189-98. 2008..forced-choice measures of contrast thresholds for optomotor responses of C57BL/6J mice with normal vision, Gnat2(cpfl3) mice without functional cones, and Gnat1-/- mice without functional rods. Gnat2(cpfl3) mice (threshold, -6...
- An adaptive ERG technique to measure normal and altered dark adaptation in the mousePaul J DeMarco
Louisville VA Medical Center, Department of Psychological and Brain Sciences, University of Louisville, 317 Life Sciences Bldg, Louisville, KY, USA
Doc Ophthalmol 115:155-63. 2007..functions, commensurate with the functional deficit were recorded in pigmented mice that lacked cone function (Gnat2 ( cplf3 )) and in WT mice injected with a toxin, sodium iodate (NaIO(3)), which targets the retinal pigment ..
- Light threshold-controlled cone alpha-transducin translocationJunping Chen
Oklahoma Center for Neuroscience, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
Invest Ophthalmol Vis Sci 48:3350-5. 2007..However, cone alpha-transducin (cTalpha, GNAT2) has not been shown to have such light-dependent redistribution...
- Cloning and characterization of the human phosphoinositide-specific phospholipase C-beta 1 (PLC beta 1)A Caricasole
Biology Department, GlaxoWellcome Medicines Research Centre, Verona, Italy
Biochim Biophys Acta 1517:63-72. 2000..Finally, we characterized the structure of the PLC beta 1 locus and confirmed its mapping to human chromosome 20...
- Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24S Khaliq
Dr A Q Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan
Invest Ophthalmol Vis Sci 41:3709-12. 2000..Fundoscopy revealed marked macular degeneration and attenuation of retinal vessels. Mild pigmentary changes were present in the periphery...
- oriGNAI3: a narrow zone of preferential replication initiation in mammalian cells identified by 2D gel and competitive PCR replicon mapping techniquesF Toledo
Unité de Génétique Somatique URA CNRS 1960, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
Nucleic Acids Res 26:2313-21. 1998..we analyze the replication of an amplified genomic region encompassing the 3'-end of the GNAI3 gene, the entire GNAT2 gene and the intergenic region between them in exponentially growing Chinese hamster fibroblasts...
- Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2)T A Morris
Department of Ophthalmology, Indiana University, Indianapolis 46202, USA
Invest Ophthalmol Vis Sci 38:196-206. 1997To localize cis-acting elements involved in the expression of the cone-specific G-protein, cone transducin alpha-subunit (GNAT2).
- The structure of the G protein heterotrimer Gi alpha 1 beta 1 gamma 2M A Wall
Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235, USA
Cell 83:1047-58. 1995..Repeated WD motifs in beta form a circularized sevenfold beta propeller. The conserved cores of these motifs are a scaffold for display of their more variable linkers on the exterior face of each propeller blade...
- Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2)T A Morris
Department of Biological Sciences, Purdue University, West Lafayette, Indiana 47907
Genomics 17:442-8. 1993The human cone transducin alpha-subunit (GNAT2) gene has been completely characterized. The human GNAT2 transcription unit is 9967-bp in length and consists of eight exons with seven introns...
- Structural determinants for activation of the alpha-subunit of a heterotrimeric G proteinD G Lambright
Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06510
Nature 369:621-8. 1994..The changes are distinct from those observed in other members of the GTPase superfamily...
- Myristoylated alpha subunits of guanine nucleotide-binding regulatory proteinsJ E Buss
La Jolla Cancer Research Foundation, CA 92037
Proc Natl Acad Sci U S A 84:7493-7. 1987..Myristate may play an important role in stabilizing interactions of G proteins with phospholipid or with membrane-bound proteins...
- Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and humanC Blatt
Weizmann Institute, Rehovoth, Israel
Proc Natl Acad Sci U S A 85:7642-6. 1988..The retinal-specific transducin subunit genes GNAT1 and GNAT2 were on chromosomes 3 and 1; GNAI1, GNAI2, and GNAI3 were assigned to chromosomes 7, 3, and 1, respectively; GNAZ ..
- Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retinaC L Lerea
Howard Hughes Medical Institute, University of Washington, Seattle 98195
Neuron 3:367-76. 1989..The multiple Tc alpha genes could be closely related genes or different Tc alpha alleles, or one could be a pseudogene...
- Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunitM Kubo
Section of Bacterial Infection, Hokkaido University, Sapporo, Japan
FEBS Lett 291:245-8. 1991..In Jurkat, however, the message was detectable only by reverse transcription/PCR. Taken together, this novel G protein alpha subunit must be human Tc...
- Rhodopsin and the retinal G-protein distinguish among G-protein beta gamma subunit formsA B Fawzi
Department of Pharmacology, Yale University School of Medicine, New Haven, Connecticut 06510
J Biol Chem 266:12194-200. 1991..These results may indicate that the recently uncovered diversity in the expression of beta gamma subunit forms may complement the diversity of G alpha subunits in providing for specific receptor recognition of G-proteins...
- Structural analysis of rod GTP-binding protein, Gt. Limited proteolytic digestion pattern of Gt with four proteases defines monoclonal antibody epitopeM R Mazzoni
Department of Physiology and Biophysics, University of Illinois College of Medicine, Chicago 60680
J Biol Chem 266:14072-81. 1991..Additionally, the antibody did not bind the 38- and 36-kDa or other fragments containing the carboxyl terminus, showing that the amino-terminal residues from Met1 to Lys17 were essential for antibody binding to alpha t...
- cGMP suppresses GTPase activity of a portion of transducin equimolar to phosphodiesterase in frog rod outer segments. Light-induced cGMP decreases as a putative feedback mechanism of the photoresponse- Arshavsky VYu
Laboratory of Molecular Biology, University of Wisconsin, Madison 53706
J Biol Chem 266:18530-7. 1991....
- Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsiaSusanne Kohl
Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
Am J Hum Genet 71:422-5. 2002..identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13...
- Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)I A Aligianis
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
J Med Genet 39:656-60. 2002..To determine the molecular basis for achromatopsia using autozygosity mapping and positional candidate gene analysis...
- Restoration of cone vision in a mouse model of achromatopsiaJohn J Alexander
Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610, USA
Nat Med 13:685-7. 2007..Using adeno-associated virus (AAV) gene therapy, we show that it is possible to target cones and rescue both the cone-mediated electroretinogram response and visual acuity in the Gnat2 ( cpfl3 ) mouse model of achromatopsia.
- Temporal response properties of the primary and secondary rod-signaling pathways in normal and Gnat2 mutant miceS Nusinowitz
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA
Exp Eye Res 84:1104-14. 2007..C57BL/6J and Gnat2(cpfl3) mutant mice lacking functional cones were used in these experiments...
- Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14Wojciech Wiszniewski
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Genet 121:433-9. 2007..of the cyclic nucleotide-gated cation channel (CNGA3 and CNGB3, respectively) and cone photoreceptor transducin--GNAT2. We investigated the prevalence of mutations in achromatopsia-causing genes in a cohort of 16 families with both ..
- Differential expression of photoreceptor-specific genes in the retina of a zebrafish cadherin2 mutant glass onion and zebrafish cadherin4 morphantsQ Liu
Department of Biology, University of Akron, 302 Buchtel Common, Akron, OH 44325, USA
Exp Eye Res 84:163-75. 2007..photoreceptors, we have analyzed expression patterns of several photoreceptor-specific genes (crx, gnat1, gnat2, irbp, otx5, rod opsin, rx1, and uv opsin) and/or a cone photoreceptor marker (zpr-1) in the retina of a zebrafish ..
- Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2Bo Chang
The Jackson Laboratory, Bar Harbor, Maine, USA
Invest Ophthalmol Vis Sci 47:5017-21. 2006..To report a novel mouse model of achromatopsia with a cpfl3 mutation found in the ALS/LtJ strain...
- Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsiaSatoshi Goto-Omoto
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
Vis Neurosci 23:395-402. 2006..This disorder has been shown to be associated with CNGA3, CNGB3, and GNAT2 mutations, and the frequency of mutations in the CNGA3 gene (encoding alpha subunit of the cone-specific cGMP-..
- Mechanism of the receptor-catalyzed activation of heterotrimeric G proteinsWilliam M Oldham
Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 6600, USA
Nat Struct Mol Biol 13:772-7. 2006..These data provide the first direct observation of R*-mediated conformational changes in G proteins and define the structural basis for GDP release from G alpha...
- Genetic diseases associated with heterotrimeric G proteinsLee S Weinstein
Metabolic Diseases Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Trends Pharmacol Sci 27:260-6. 2006..Mutations of GNAT1 and GNAT2, which encode the retinal G proteins (transducins), are rare causes of specific congenital visual defects...
- Characterization of a transgenic mouse line lacking photoreceptor development within the ventral retinaShao Ling Fong
Department of Ophthalmology, Indiana University, 702 Rotary Circle, Indianapolis, IN 46202, USA
Exp Eye Res 81:376-88. 2005..line was generated by incorporating a minigene that contained a cone-specific human cone transducin alpha-subunit (GNAT2) promoter, an attenuated diphtheria toxin A (DTA) gene, and an enhancer element from human interphotoreceptor ..
- Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseasesKoji M Nishiguchi
Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
Hum Mutat 25:248-58. 2005..macular malfunction were screened for mutations in the three genes known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta ..
- CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl
Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Germany
Eur J Hum Genet 13:302-8. 2005..2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder...
- Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutationsThomas Rosenberg
Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, 1 Rymarksvej, DK 2900 Hellerup, Denmark
Invest Ophthalmol Vis Sci 45:4256-62. 2004....
- [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes]U Kellner
Augenklinik Campus Benjamin Franklin, Charite Universitatsmedizin, Berlin
Ophthalmologe 101:830-5. 2004..This study compares clinical and molecular genetic findings in patients with congenital cone dysfunction...
- A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin geneAna Luisa Pina
McGill Ocular Genetics Laboratory, Montreal Children s Hospital Research Institute, McGill University, Montreal, PQ, Canada
Mol Vis 10:265-71. 2004..The human gene for the alpha-subunit of cone transducin (GNAT2) has been cloned and characterized. Recently achromatopsia has been associated with mutations in this gene...
- Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11, its physiologic regulatorG Berstein
Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas 75235 9041
Cell 70:411-8. 1992..Such GAP activity by an effector coupled to a trimeric G protein can reconcile slow GTP hydrolysis by pure G proteins in vitro with fast physiologic deactivation of G protein-mediated signaling...
- Genetics of Age-Related CataractsBo Chang; Fiscal Year: 2007..abstract_text> ..
- Eye Mutant ResourceBo Chang; Fiscal Year: 2010..Further, these models can be used to identify treatment targets and to test therapeutic strategies. The EMR focuses on identifying, characterizing and distributing such models. ..
- Cadherin6 and -10 Function in Retinal Ganglion and Amacrine Cell DevelopmentQin Liu; Fiscal Year: 2007....
- Using Nanotechnology to Rescue Visual Loss in A Model of Human Blinding DisorderXi Qin Ding; Fiscal Year: 2007..Information obtained from the proposed study will open a new pathway for therapeutic interventions of retinal degeneration and will have significant impact on the clinical treatment of human retinal diseases. ..
- Nanoparticle & AAV Approaches to Rapid Onset, Stable Retinal Gene TherapyJijing Pang; Fiscal Year: 2007..Our ultimate goal is to establish a retinal gene delivery system that is fast, of long duration and can accommodate large therapeutic cDNAs. ..
- Mechanism of Cone Degeneration Resulting from CNG Channel DeficiencyXi Qin Ding; Fiscal Year: 2010..This knowledge is essential for developing therapeutic interventions to treat cone diseases and retard or rescue vision loss. ..