David M Hunt

Summary

Affiliation: University College London
Country: UK

Publications

  1. doi request reprint Cone visual pigments in two species of South American marsupials
    David M Hunt
    UCL Institute of Ophthalmology, London, UK
    Gene 433:50-5. 2009
  2. ncbi request reprint The rhodopsin gene of the cuttlefish Sepia officinalis: sequence and spectral tuning
    J Bellingham
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK
    J Exp Biol 201:2299-306. 1998
  3. ncbi request reprint Spectral tuning of shortwave-sensitive visual pigments in vertebrates
    David M Hunt
    UCL Institute of Ophthalmology, 11 43 Bath Street, London, EC1V 9EL, UK
    Photochem Photobiol 83:303-10. 2007
  4. ncbi request reprint Molecular evolution of trichromacy in primates
    D M Hunt
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK
    Vision Res 38:3299-306. 1998
  5. ncbi request reprint The rod opsin pigments from two marsupial species, the South American bare-tailed woolly opossum and the Australian fat-tailed dunnart
    David M Hunt
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, EC1V 9EL, London, UK
    Gene 323:157-62. 2003
  6. ncbi request reprint The molecular basis for spectral tuning of rod visual pigments in deep-sea fish
    D M Hunt
    Department of Molecular Genetics, University College London, Bath Street, London, EC1V 9EL, UK
    J Exp Biol 204:3333-44. 2001
  7. ncbi request reprint Vision in the ultraviolet
    D M Hunt
    Institute of Ophthalmology, University College London, United Kingdom
    Cell Mol Life Sci 58:1583-98. 2001
  8. ncbi request reprint Divergent mechanisms for the tuning of shortwave sensitive visual pigments in vertebrates
    David M Hunt
    Institute of Ophthalmology, University College London, Bath Street, London, UK
    Photochem Photobiol Sci 3:713-20. 2004
  9. pmc Evolution and spectral tuning of visual pigments in birds and mammals
    David M Hunt
    UCL Institute of Ophthalmology, London EC1V 9EL, UK
    Philos Trans R Soc Lond B Biol Sci 364:2941-55. 2009
  10. doi request reprint Guanylate cyclases and associated activator proteins in retinal disease
    David M Hunt
    UCL Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
    Mol Cell Biochem 334:157-68. 2010

Detail Information

Publications102 found, 100 shown here

  1. doi request reprint Cone visual pigments in two species of South American marsupials
    David M Hunt
    UCL Institute of Ophthalmology, London, UK
    Gene 433:50-5. 2009
    ..The SWS1 gene shows a conserved synteny with flanking genes. The LWS gene is X-linked, as in all therian mammals so far examined, with a locus control region 1.54 kb upstream...
  2. ncbi request reprint The rhodopsin gene of the cuttlefish Sepia officinalis: sequence and spectral tuning
    J Bellingham
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK
    J Exp Biol 201:2299-306. 1998
    ..A spectral tuning model involving substitutions at only three amino acid sites is proposed for the spectral shifts between the rhodopsins of Sepia officinalis, three species of squid and Paroctopus defleini...
  3. ncbi request reprint Spectral tuning of shortwave-sensitive visual pigments in vertebrates
    David M Hunt
    UCL Institute of Ophthalmology, 11 43 Bath Street, London, EC1V 9EL, UK
    Photochem Photobiol 83:303-10. 2007
    ....
  4. ncbi request reprint Molecular evolution of trichromacy in primates
    D M Hunt
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK
    Vision Res 38:3299-306. 1998
    ....
  5. ncbi request reprint The rod opsin pigments from two marsupial species, the South American bare-tailed woolly opossum and the Australian fat-tailed dunnart
    David M Hunt
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, EC1V 9EL, London, UK
    Gene 323:157-62. 2003
    ..From microspectrophotometric measurements, the pigments in the two species show an 8 nm difference in peak absorbance; the molecular basis for this spectral shift is discussed and two candidate substitutions are identified...
  6. ncbi request reprint The molecular basis for spectral tuning of rod visual pigments in deep-sea fish
    D M Hunt
    Department of Molecular Genetics, University College London, Bath Street, London, EC1V 9EL, UK
    J Exp Biol 204:3333-44. 2001
    ..A total of 27 changes is required to generate the pattern of substitutions seen in the different species, with many sites undergoing multiple changes...
  7. ncbi request reprint Vision in the ultraviolet
    D M Hunt
    Institute of Ophthalmology, University College London, United Kingdom
    Cell Mol Life Sci 58:1583-98. 2001
    ..In contrast, no loss of UV sensitivity has occurred in the UVS pigments of insects...
  8. ncbi request reprint Divergent mechanisms for the tuning of shortwave sensitive visual pigments in vertebrates
    David M Hunt
    Institute of Ophthalmology, University College London, Bath Street, London, UK
    Photochem Photobiol Sci 3:713-20. 2004
    ..In this review, the different molecular mechanisms for the UV or violet shifts are presented and discussed in the context of the structural model of bovine rhodopsin...
  9. pmc Evolution and spectral tuning of visual pigments in birds and mammals
    David M Hunt
    UCL Institute of Ophthalmology, London EC1V 9EL, UK
    Philos Trans R Soc Lond B Biol Sci 364:2941-55. 2009
    ..Where it is found in birds, it is not ancestral but newly acquired...
  10. doi request reprint Guanylate cyclases and associated activator proteins in retinal disease
    David M Hunt
    UCL Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
    Mol Cell Biochem 334:157-68. 2010
    ..In a similar fashion to the disease mechanism for the dominant GUCY2D mutations, these mutations generally alter the sensitivity of the cyclase to inhibition as Ca(2+) levels rise following a light flash...
  11. ncbi request reprint Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Ophthalmology 112:1442-7. 2005
    ..To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 4-generation family and to examine the phenotype and the degree of intrafamilial variability...
  12. pmc Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy
    Michelle McClements
    University College London Institute of Ophthalmology, London, United Kingdom
    Invest Ophthalmol Vis Sci 54:1361-9. 2013
    ..To determine the role of variant L opsin haplotypes in seven families with Bornholm Eye Disease (BED), a cone dysfunction syndrome with dichromacy and myopia...
  13. doi request reprint "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology
    Anthony G Robson
    Department of Electrophysiology, Moorfields Eye Hospital, London, UK
    Retina 30:51-62. 2010
    ..The purpose of this study was to characterize the clinical, electrophysiologic, and genetic features in "cone dystrophy with supernormal rod electroretinogram (ERG)."..
  14. ncbi request reprint The molecular evolution of avian ultraviolet- and violet-sensitive visual pigments
    Livia S Carvalho
    UCL Institute of Ophthalmology, London, UK
    Mol Biol Evol 24:1843-52. 2007
    ..From available data on avian SWS1 pigments, it would appear that UVS pigments have evolved on at least 5 separate occasions and utilize 2 different mechanisms for the short-wave shift...
  15. ncbi request reprint Evolution of the cichlid visual palette through ontogenetic subfunctionalization of the opsin gene arrays
    Tyrone C Spady
    Hubbard Center for Genome Studies and Department of Zoology, University of New Hampshire, London, UK
    Mol Biol Evol 23:1538-47. 2006
    ..The distinct peak absorbances of these preserved opsin genes provide a palette from which selection creates the diverse visual sensitivities found among the cichlid species of the lacustrine adaptive radiations...
  16. pmc The molecular mechanism for the spectral shifts between vertebrate ultraviolet- and violet-sensitive cone visual pigments
    Jill A Cowing
    Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, U K
    Biochem J 367:129-35. 2002
    ..The replacement of Phe with polar Tyr at site 86 is consistent with the stabilization of Schiff-base protonation in VS pigments and the absence of protonation in UVS pigments...
  17. pmc Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
    Susan E Wilkie
    University College London Institute of Ophthalmology, London, United Kingdom
    Mol Vis 14:683-90. 2008
    ..Here we examine in further detail the effect of the A216P mutation on splicing function...
  18. doi request reprint Phenotypic variation in enhanced S-cone syndrome
    Isabelle Audo
    Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, United Kingdom
    Invest Ophthalmol Vis Sci 49:2082-93. 2008
    ..To characterize the clinical, psychophysical, and electrophysiological phenotype of 19 patients with enhanced S-cone syndrome (ESCS) and relate the phenotype to the underlying genetic mutation...
  19. ncbi request reprint Evolution of vertebrate visual pigments
    James K Bowmaker
    Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK
    Curr Biol 16:R484-9. 2006
  20. ncbi request reprint Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Ophthalmology 112:1592-8. 2005
    ..To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 5-generation family, and to examine the phenotype and degree of intrafamilial variability...
  21. pmc Cone visual pigments in two marsupial species: the fat-tailed dunnart (Sminthopsis crassicaudata) and the honey possum (Tarsipes rostratus)
    Jill A Cowing
    UCL Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
    Proc Biol Sci 275:1491-9. 2008
    ..Uniquely therefore for a mammal, the fat-tailed dunnart has two copies of an RH1 opsin gene. This raises the possibility that the middle wavelength cones express a rod rather than a cone pigment...
  22. ncbi request reprint Mix and match color vision: tuning spectral sensitivity by differential opsin gene expression in Lake Malawi cichlids
    Juliet W L Parry
    Institute of Ophthalmology, University College London, London EC1V 9EL, United Kingdom
    Curr Biol 15:1734-9. 2005
    ..However, African cichlids determine their spectral sensitivity by differential expression of primarily only three of the seven available cone opsin genes. Phylogenetic analysis suggests that all percomorph fish have similar potential...
  23. ncbi request reprint A novel amino acid substitution is responsible for spectral tuning in a rodent violet-sensitive visual pigment
    Juliet W L Parry
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EL, UK
    Biochemistry 43:8014-20. 2004
    ..The convergent evolution of this mammalian VS pigment provides insight into the mechanism of tuning between the violet and UV...
  24. ncbi request reprint Spectral tuning and evolution of short wave-sensitive cone pigments in cottoid fish from Lake Baikal
    Jill A Cowing
    Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK
    Biochemistry 41:6019-25. 2002
    ..The underlying adaptive significance of these substitutions in terms of spectral tuning and signal-to-noise ratio is discussed...
  25. ncbi request reprint X-linked cone dysfunction syndrome with myopia and protanopia
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Ophthalmology 112:1448-54. 2005
    ..To perform a detailed clinical, psychophysical, and molecular assessment of members of 4 families with an unusual X-linked cone dysfunction syndrome associated with myopia...
  26. ncbi request reprint Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1
    David M Hunt
    Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK
    Novartis Found Symp 255:37-49; discussion 49-50, 177-8. 2004
    ..Functionally therefore, the retGC2 and GCAP2 mutations are similar in reducing the feedback inhibition of Ca2+ on cyclase activity and thereby on cGMP levels in the photoreceptors...
  27. ncbi request reprint An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 44:2178-83. 2003
    ..To characterize the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus...
  28. pmc X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene
    Michelle McClements
    UCL Institute of Ophthalmology, London, UK
    Vision Res 80:41-50. 2013
    ....
  29. doi request reprint Shedding light on serpent sight: the visual pigments of henophidian snakes
    Wayne L Davies
    UCL Institute of Ophthalmology, London EC1V9EL, United Kingdom
    J Neurosci 29:7519-25. 2009
    ..More data from other snake lineages will be required to test this hypothesis further...
  30. pmc Developmental dynamics of cone photoreceptors in the eel
    Phillippa B Cottrill
    UCL Institute of Ophthalmology, 11 43 Bath Street, London, EC1V 9EL, UK
    BMC Dev Biol 9:71. 2009
    ..Eels are known to change the expression of their rod opsins as they mature, but might they also change the expression of their cone opsins?..
  31. ncbi request reprint Adaptations to an extreme environment: retinal organisation and spectral properties of photoreceptors in Antarctic notothenioid fish
    Marie A Pointer
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, UK
    J Exp Biol 208:2363-76. 2005
    ....
  32. ncbi request reprint Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2
    Suzanne L Inglis-Broadgate
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, UK
    Gene 356:19-31. 2005
    ..These are regions of synteny with the corresponding human gene localization (4q21 and 20p13). Transient transfection experiments with epitope tagged proteins have also demonstrated that both are associated with the endoplasmic reticulum...
  33. pmc Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans
    Huimin Wu
    University College London, Institute of Ophthalmology, London, United Kingdom
    Am J Hum Genet 79:574-9. 2006
    ....
  34. pmc Into the blue: gene duplication and loss underlie color vision adaptations in a deep-sea chimaera, the elephant shark Callorhinchus milii
    Wayne L Davies
    UCL Institute of Ophthalmology, London EC1V 9EL, United Kingdom
    Genome Res 19:415-26. 2009
    ..Our findings have important implications for the present knowledge of color vision evolution in early vertebrates...
  35. ncbi request reprint SPLICE: a technique for generating in vitro spliced coding sequences from genomic DNA
    Wayne L Davies
    UCL Institute of Ophthalmology, London, UK
    Biotechniques 43:785-9. 2007
    ..In this report, we provide a detailed protocol, experimental considerations, and suggestions for troubleshooting...
  36. ncbi request reprint Characterisation of two genes for guanylate cyclase activator protein (GCAP1 and GCAP2) in the Japanese pufferfish, Fugu rubripes
    Susan E Wilkie
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK
    Biochim Biophys Acta 1577:73-80. 2002
    ..The failure to activate may be due therefore to a lack of molecular compatibility in this heterologous assay system...
  37. pmc Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
    Francesca I Arrigoni
    Department of Vascular Physiology, UCL Institute of Child Health, London, UK
    Eur J Hum Genet 19:131-7. 2011
    ..We also noted renal infections, haematuria and recurrent miscarriages possibly reflecting consequences of abnormal tubular modelling. Further studies are needed to confirm these findings...
  38. ncbi request reprint The visual pigments of a deep-sea teleost, the pearl eye Scopelarchus analis
    Marie A Pointer
    UCL Institute of Ophthalmology, 11 43 Bath Street, London, EC1V 9EL, UK
    J Exp Biol 210:2829-35. 2007
    ..The distribution of these pigments within the multiple retinae of S. analis is discussed...
  39. ncbi request reprint Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis
    Michel Michaelides
    Institute of Ophthalmology, University College London, UK
    Surv Ophthalmol 51:232-58. 2006
    ..This improved knowledge of disease mechanisms has raised the possibility of future treatments for these disorders, for which there are no specific therapies available at the present time...
  40. pmc Spectral tuning and evolution of primate short-wavelength-sensitive visual pigments
    Livia S Carvalho
    UCL Institute of Ophthalmology, London EC1V 9EL, UK
    Proc Biol Sci 279:387-93. 2012
    ..However, it remains uncertain whether the initial event that gave rise to the VS pigment in the ancestral primate was achieved by a Thr93Pro or a Phe86Tyr substitution...
  41. ncbi request reprint Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
    Samantha Johnson
    Institute of Ophthalmology, University College London, London, UK
    Genomics 81:304-14. 2003
    ..The RIM1 gene is composed of at least 35 exons, spans 577 kb of genomic DNA, and encodes a protein of up to 1693 residues. The transcript shows extensive alternative splicing involving exons 17, 21-26 and 28-30...
  42. ncbi request reprint Guanylate cyclase activating proteins, guanylate cyclase and disease
    Richard J Newbold
    School of Biological Sciences, Queen Mary, University of London, Mile End Road, London, E1 4NS, UK
    Adv Exp Med Biol 514:411-38. 2002
    ..The diseases caused by mutations in RetGC1 and GCAP1 prominently affect cones, consistent with the higher concentrations of these proteins in cone cells...
  43. pmc The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy
    Michel Michaelides
    UCL Institute of Ophthalmology, London, United Kingdom
    Invest Ophthalmol Vis Sci 51:4771-80. 2010
    ..To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene...
  44. pmc Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    J Med Genet 44:373-80. 2007
    ..RIMS1 encodes a synapse active-zone protein with important roles in the maintenance of normal synaptic function: mice lacking this protein have greatly reduced learning ability and memory function...
  45. pmc Ultraviolet-sensitive vision in long-lived birds
    Livia S Carvalho
    UCL Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
    Proc Biol Sci 278:107-14. 2011
    ..Our findings thus support the claim that the Psittaciformes are the only avian Order in which UVS pigments are ubiquitous, and indicate that these long-lived birds have UV sensitivity, despite the risks of photodamage...
  46. ncbi request reprint A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP)
    Susan E Wilkie
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EL, UK
    Biochim Biophys Acta 1762:304-11. 2006
    ..Reduced mutant protein solubility resulting in an insufficiency of splicing activity in cells with a very high metabolic demand remains the most likely explanation for the disease pathology in ADRP patients...
  47. doi request reprint Anion sensitivity and spectral tuning of middle- and long-wavelength-sensitive (MWS/LWS) visual pigments
    Wayne I L Davies
    UCL Institute of Ophthalmology, London, UK
    Cell Mol Life Sci 69:2455-64. 2012
    ....
  48. pmc Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene
    Prateek K Buch
    University College London Institute of Ophthalmology, London, United Kingdom
    PLoS ONE 6:e18089. 2011
    ..Importantly, this knock-in mutant mouse has many features in common with the human disease, thereby making it an excellent model to further probe disease pathogenesis and investigate therapeutic interventions...
  49. doi request reprint Eel visual pigments revisited: the fate of retinal cones during metamorphosis
    James K Bowmaker
    UCL Institute of Ophthalmology, University College London, London, United Kingdom
    Vis Neurosci 25:249-55. 2008
    ..During metamorphosis, the cones are almost completely lost...
  50. ncbi request reprint Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
    Eranga N Vithana
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, UK
    Invest Ophthalmol Vis Sci 44:4204-9. 2003
    ..4 (RP11) with mutations in the PRPF31 gene is due to differentially expressed wild-type alleles in symptomatic and asymptomatic individuals...
  51. ncbi request reprint Progressive cone dystrophy associated with mutation in CNGB3
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 45:1975-82. 2004
    ..To determine the molecular basis for phenotypic variability in a three-generation consanguineous family containing a single individual with complete achromatopsia and three individuals with progressive cone dystrophy...
  52. pmc The molecular basis for UV vision in birds: spectral characteristics, cDNA sequence and retinal localization of the UV-sensitive visual pigment of the budgerigar (Melopsittacus undulatus)
    S E Wilkie
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EL, U K
    Biochem J 330:541-7. 1998
    ..In situ hybridization of this sequence to budgerigar retinas selectively labelled a sub-set of UV cones, representing approx. 9% of the total cone population, that are distributed in a semi-regular pattern across the entire retina...
  53. pmc Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram
    Katie E Smith
    University College London Institute of Ophthalmology, London EC1V 9EL, United Kingdom
    J Biol Chem 287:43972-83. 2012
    ..1 channels only. Consequently, our study suggests the existence of two distinct molecular mechanisms involved in the disease pathology...
  54. ncbi request reprint Assignment of claudin-1 (CLDN1) to human chromosome 3q28-->q29 with somatic cell hybrids
    S Halford
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK
    Cytogenet Cell Genet 88:217. 2000
  55. ncbi request reprint Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, London, United Kingdom
    Biochem Biophys Res Commun 276:454-60. 2000
    ..1. We have also developed a comprehensive PCR-based mutation detection strategy for desmocollins 1, 2, and 3 using primers placed on flanking introns followed by direct sequencing of the PCR products...
  56. ncbi request reprint Sequence and evolution of the blue cone pigment gene in Old and New World primates
    D M Hunt
    Department of Molecular Genetics, University of London, United Kingdom
    Genomics 27:535-8. 1995
    ..The silent site divergence between these primate blue genes indicates a separation of the Old and New World primate lineages around 43 million years ago...
  57. ncbi request reprint Absence of p53 delays apoptotic photoreceptor cell death in the rds mouse
    R R Ali
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK
    Curr Eye Res 17:917-23. 1998
    ..This study was aimed at determining whether or not apoptotic photoreceptor cell death in a mouse model of inherited retinal degeneration is p53 dependent...
  58. ncbi request reprint Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
    R R Ali
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK
    Nat Genet 25:306-10. 2000
    ..These studies demonstrate for the first time that a complex ultrastructural cell defect can be corrected both morphologically and functionally by in vivo gene transfer...
  59. ncbi request reprint Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3
    L Ocaka
    Genomic Medicine, Division of Medicine, Imperial College, Hammersmith Hospital, London, UK
    Cytogenet Genome Res 108:293-302. 2005
    ..Phylogenetic analysis indicates that the two groups arose by gene duplication that occurred very early in animal evolution...
  60. doi request reprint Adaptive gene loss reflects differences in the visual ecology of basal vertebrates
    Wayne L Davies
    Department of Molecular Genetics, UCL Institute of Ophthalmology, London, UK
    Mol Biol Evol 26:1803-9. 2009
    ....
  61. ncbi request reprint High frequency of persistent hyperplastic primary vitreous and cataracts in p53-deficient mice
    M B Reichel
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK
    Cell Death Differ 5:156-62. 1998
    ..Our results provide further evidence for the importance of p53 in normal development and provide the first detailed evidence of its role in postnatal development in remodelling the developing eye...
  62. ncbi request reprint Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p
    R E Kelsell
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK
    Hum Mol Genet 6:597-600. 1997
    ..Given their differences in phenotype, the most plausible explanation would be that these different retinal disorders are caused by mutations in different genes mapping close together within the genome...
  63. ncbi request reprint Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32
    J Fitzgibbon
    Department of Molecular Genetics, University of London, UK
    Hum Genet 93:79-80. 1994
    ..In this study, the BCP gene has been localised to chromosome 7q31.3-32 by fluorescent in situ hybridisation of cosmid clones containing the gene. This is consistent with previous mapping of the BCP gene to chromosome 7q31-35...
  64. ncbi request reprint Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
    K Evans
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    Nat Genet 6:210-3. 1994
    ..Multipoint analysis gave a maximum lod score of 10.08 (theta = 0.05) distal to D19S47. Cone-rod dystrophy is therefore assigned to 19q13.1-q13.2 and a new candidate locus for other retinal dystrophies is identified...
  65. ncbi request reprint An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 44:1657-62. 2003
    ..To describe the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus...
  66. ncbi request reprint Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
    D M Hunt
    Division of Membrane Biology, National Institute for Medical Research, Mill Hill, London, NW7 1AA, UK
    Eur J Hum Genet 9:197-203. 2001
    ..The most severe consequences of SPPK mutations are in regions of the body where pressure and abrasion are greatest and where desmosome function is most necessary. SPPK therefore provides a very sensitive measure of desmosomal function...
  67. ncbi request reprint Enhanced retinal longwave sensitivity using a chlorophyll-derived photosensitiser in Malacosteus niger, a deep-sea dragon fish with far red bioluminescence
    R H Douglas
    Department of Optometry and Visual Science, City University, London, UK
    Vision Res 39:2817-32. 1999
    ..niger contain additional pigments, which we identify as a mixture of defarnesylated and demetallated derivatives of bacteriochlorophylls c and d, that are used as a photosensitiser to enhance its sensitivity to longwave radiation...
  68. ncbi request reprint Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes
    S Halford
    Institute of Ophthalmology, University College London, Bath Street, London, EC1V 9EL, UK
    Genomics 54:140-4. 1998
    ..Radiation hybrid panel mapping and fluorescence in situ hybridization were used to localize the genes to chromosomes 4q21 and 20p13. As yet, no known retinal diseases map to either of these regions...
  69. ncbi request reprint Localization of the gene encoding human phosphatidylinositol transfer protein (PITPN) to 17p13.3: a gene showing homology to the Drosophila retinal degeneration B gene (rdgB)
    J Fitzgibbon
    Department of Molecular Genetics, University of London, UK
    Cytogenet Cell Genet 67:205-7. 1994
    ..In view of the possible involvement of the PITPN locus in the etiology of retinal disease, the gene has been mapped to human chromosome 17p13.3 and mouse Chromosome 11...
  70. pmc A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts
    A Arora
    UCL Institute of Ophthalmology, London, UK
    J Med Genet 45:155-60. 2008
    ..To screen for mutations of connexin50 (Cx50)/GJA8 in a panel of patients with inherited cataract and to determine the cellular and functional consequences of the identified mutation...
  71. ncbi request reprint Seeing rainbows
    D M Hunt
    Institute of Ophthalmology, University College, London, UK
    Biologist (London) 48:67-71. 2001
    ..This is partially redressed in primates, but the underlying mechanisms differ in Old World and New World primate groups. How has this occurred and what were the key events in the molecular evolution of primate colour vision?..
  72. ncbi request reprint N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
    L Rickman
    Division of Membrane Biology, National Institute for Medical Research, The Ridgeway, Mill Hill, London, UK
    Hum Mol Genet 8:971-6. 1999
    ..This mutation emphasizes the importance of this part of the molecule for cadherin function, and of the Dsg1 protein and hence desmosomes in epidermal function...
  73. ncbi request reprint Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals
    M Michaelides
    Institute of Ophthalmology, University College London, London EC1V 9EL, UK
    Eye (Lond) 19:2-10. 2005
    ..To perform a detailed clinical and psychophysical assessment of the members of three British families affected with blue cone monochromatism (BCM), and to determine the molecular basis of disease in these families...
  74. ncbi request reprint Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43
    S Halford
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, United Kingdom
    Genomics 72:203-8. 2001
    ..KMO and panopsin overlap at their 3' ends but are transcribed in opposite directions. CHML, an intronless gene, lies in intron 1 of panopsin...
  75. pmc The genetics of inherited macular dystrophies
    M Michaelides
    Institute of Ophthalmology, University College London, London, UK
    J Med Genet 40:641-50. 2003
    ..Inherited systemic disorders with a macular dystrophy component will not be discussed...
  76. ncbi request reprint A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
    E N Vithana
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, ECIV 9EL, London, United Kingdom
    Mol Cell 8:375-81. 2001
    ..The identification of mutations in a pre-mRNA splicing gene implicates defects in the splicing process as a novel mechanism of photoreceptor degeneration...
  77. ncbi request reprint Assignment of panopsin (OPN3) to human chromosome band 1q43 by in situ hybridization and somatic cell hybrids
    S Halford
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, UK
    Cytogenet Cell Genet 95:234-5. 2001
  78. ncbi request reprint Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q
    R E Kelsell
    Department of Molecular Genetics, University of London, UK
    Hum Mol Genet 4:1653-6. 1995
    ..However, given the range of differences in phenotype between these two retinal disorders, it is likely that different mutation mechanisms are responsible for each disease...
  79. ncbi request reprint Characterisation of the ultraviolet-sensitive opsin gene in the honey bee, Apis mellifera
    J Bellingham
    Department of Molecular Genetics, University College London, UK
    Eur J Biochem 243:775-81. 1997
    ..Such changes are known to result in spectral shifts in vertebrate pigments. Phylogenetic analysis indicates that the ultraviolet-sensitive pigments represent an ancient class of insect opsins...
  80. ncbi request reprint Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation
    J Fitzgibbon
    Department of Molecular Genetics, Institute of Ophthamology, University College London, UK
    FEBS Lett 385:185-8. 1996
    ..We report the sequence of this human GK (GUK1) and a further refinement of its localization to 1q32-41, placing it in the same interval as USH2A...
  81. ncbi request reprint Hierarchical expression of desmosomal cadherins during stratified epithelial morphogenesis in the mouse
    I A King
    Division of Membrane Biology, National Institute for Medical Research, London, UK
    Differentiation 62:83-96. 1997
    ..Upregulation of DSG1 message was temporally linked to that of DSG3 in all tissues apart from the non-glandular gastric epithelium...
  82. pmc The cone dysfunction syndromes
    M Michaelides
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EL, UK
    Br J Ophthalmol 88:291-7. 2004
    ..Disorders with a progressive cone dystrophy phenotype will not be discussed...
  83. pmc 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. 2003
    ..To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2...
  84. pmc Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy
    S E Wilkie
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, London EC1V 9EL, United Kingdom
    Am J Hum Genet 69:471-80. 2001
    ..The overall effect of this would be the constitutive activation of guanylate cyclase in photoreceptors, even at the high Ca2+ concentrations of the dark-adapted state, which may explain the dominant disease phenotype...
  85. pmc Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss
    P J Francis
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London, UK
    Br J Ophthalmol 87:893-8. 2003
    ..To characterise the phenotype and identify the underlying genetic defect in a family with deafness segregating with a North Carolina-like macular dystrophy (NCMD)...
  86. ncbi request reprint Clustered cadherin genes: a sequence-ready contig for the desmosomal cadherin locus on human chromosome 18
    D M Hunt
    Division of Membrane Biology, National Institute for Medical Research, The Ridgeway, Mill Hill, London, NW7 1AA, United Kingdom
    Genomics 62:445-55. 1999
    ..The complete bacterial clone contig described in this paper is thus a resource not only for future sequencing but also for investigations into the control of expression of these clustered genes...
  87. pmc Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
    S Johnson
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
    J Med Genet 41:e20. 2004
  88. pmc A detailed phenotypic study of "cone dystrophy with supernormal rod ERG"
    M Michaelides
    Institute of Ophthalmology, University College London, London EC1V 9EL, UK
    Br J Ophthalmol 89:332-9. 2005
    ..To characterise the detailed phenotype of "cone dystrophy with supernormal rod ERG" in a case series of 10 patients...
  89. pmc Cone topography and spectral sensitivity in two potentially trichromatic marsupials, the quokka (Setonix brachyurus) and quenda (Isoodon obesulus)
    Catherine A Arrese
    School of Animal Biology, University of Western Australia, 35 Stirling Highway, Crawley 6009, Australia
    Proc Biol Sci 272:791-6. 2005
    ..The presence of three cone types, along with previous findings in the fat-tailed dunnart and honey possum, suggests that three spectrally distinct cone types are a feature spanning the marsupials...
  90. ncbi request reprint Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies
    Victoria A Gallon
    School of Biological Sciences, Queen Mary, University of London, Mile End Road, E1 4NS, UK
    Biochim Biophys Acta 1690:141-9. 2004
    ..Other mutations appear to have a more localised effect on secondary structure, which does not result in insolubility or affect protein targeting, but reduces the stability of the protein at human body temperature...
  91. ncbi request reprint Colour vision and speciation in Lake Victoria cichlids of the genus Pundamilia
    Karen L Carleton
    Hubbard Center for Genome Studies and Department of Zoology, 35 Colovos Rd, University of New Hampshire Durham, NH 03824, USA
    Mol Ecol 14:4341-53. 2005
    ..However, other factors, such as chromophore shifts and higher order neural processing, should also be investigated to fully understand the physiological basis of differential responses to male mating hues in cichlid fish...
  92. ncbi request reprint Ancient colour vision: multiple opsin genes in the ancestral vertebrates
    Shaun P Collin
    School of Biomedical Sciences, The University of Queensland, Brisbane 4072, Queensland, Australia
    Curr Biol 13:R864-5. 2003
  93. ncbi request reprint Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle
    Lívia dos S Carvalho
    Curr Biol 16:R81-3. 2006
  94. doi request reprint The influence of ontogeny and light environment on the expression of visual pigment opsins in the retina of the black bream, Acanthopagrus butcheri
    Julia Shand
    School of Animal Biology, University of Western Australia, Crawley, WA 6009, Australia
    J Exp Biol 211:1495-503. 2008
    ....
  95. ncbi request reprint Spectral tuning of the long wavelength-sensitive cone pigment in four Australian marsupials
    Catherine A Arrese
    School of Animal Biology WAIMR University of Western Australia, Crawley, WA 6009, Australia
    Gene 381:13-7. 2006
    ..Amino acid substitutions are discussed in the context of spectral shifts in marsupial LWS and in relation to the mechanisms in primate pigments...
  96. ncbi request reprint Functional characterization, tuning, and regulation of visual pigment gene expression in an anadromous lamprey
    Wayne L Davies
    School of Biomedical Science, University of Queensland, Brisbane, QLD 4072, Australia
    FASEB J 21:2713-24. 2007
    ..These quantitative changes in visual pigment expression throughout the lifecycle may directly result from changes in the lighting conditions of the surrounding milieu...
  97. ncbi request reprint Visual pigments of the platypus: a novel route to mammalian colour vision
    Wayne L Davies
    Curr Biol 17:R161-3. 2007
  98. ncbi request reprint Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13
    Stephanie Halford
    Exp Eye Res 75:619-23. 2002
  99. pmc Clinical characterization and genetic mapping of North Carolina macular dystrophy
    Zhenglin Yang
    Department of Ophthalmology and Visual Sciences, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Vision Res 48:470-7. 2008
    ..The refinement of MCDR1 locus will aid the disease-causing gene identification. Functional studies of NCMD genes should provide important insights into pathogenetic mechanisms of NCMD and age-related macular degeneration...
  100. pmc Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
    Zhenglin Yang
    Department of Ophthalmology and Visual Science, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, USA
    J Clin Invest 118:2908-16. 2008
    ..Collectively, our results identify what we believe to be a novel complex involved in photoreceptor disk morphogenesis and indicate a possible role for PROM1 and PCDH21 in macular degeneration...
  101. pmc Enzyme sequence and its relationship to hyperbaric stability of artificial and natural fish lactate dehydrogenases
    Amanda A Brindley
    Department of Biosciences, University of Kent, Canterbury, Kent, United Kingdom
    PLoS ONE 3:e2042. 2008
    ..An analysis of the kinetic parameters of the enzymes suggests that there is clearly a trade off between K(m) and k(cat) values, which likely reflects the necessity of the deep-sea enzyme to operate at low temperatures...