Professor Alan Wright FRCP FRSE FMedSci: Medical and Developmental Genetics

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Retinal Degeneration Programme


 

BBS4 (causes Bardet Biedl syndrome type 4)

  • Mykytyn, K.; Braun, T.; Carmi, R.; Haider, N.B.; Searby, C.C.; Shastri, M.; Beck, G.; Wright, A.F.; Iannaccone, A.; Elbedour, K.; Riise, R.; Baldi, A.; Raas-Rothschild, A.; Gorman, S.W.; Duhl, D.M.; Jacobson, S.G.; Casavant, T.; Stone, E.M. and Sheffield, V.C. Identification of the gene that, when mutated, causes the human obesity syndrome, BBS4.
    Nature Genetics 28(2):188-191, 2001
    PubMed Abstract

C3 (susceptibility gene for age-related macular degeneration)

  • Yates, J.R.; Sepp, T.; Matharu, B.K.; Khan, J.C.; Thurlby, D.A.; Shahid, H.; Clayton, D.G.; Hayward, C.; Morgan, J.; Wright, A.F.; Armbrecht, A.M.; Dhillon, B.; Deary, I.J.; Redmond, E.; Bird, A.C. and Moore, A.T. Complement C3 variant and the risk of age-related macular degeneration.
    New England Journal of Medicine 357(6):553-561, 2007
    PubMed Abstract

Genetic mapping of retinal degeneration genes

  1. Bhattacharya, S.S.; Wright, A.F.; Clayton, J.F.; Price, W.H.; Phillips, C.I.; McKeown, C.M.E.; Jay, M.; Bird, A.C.; Pearson, P.L.; Southern, E.M. and Evans, H.J. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.
    Nature 309:253-255, 1984
    PubMed Abstract
  2. Wright, A.F.; Bhattacharya, S.S.; Clayton, J.F.; Dempster, M.; Tippett, P.; McKeown, C.M.E.; Jay, M.; Jay, B. and Bird, A.C. Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.
    Am J Hum Genet 41:635-644, 1987
    PubMed Abstract
  3. Ott, J.; Bhattacharya, S.; Chen, J.D.; Denton, M.J.; Donald, J.; Dubay, C.; Farrar, G.J.; Fishman, G.A.; Frey, D.; Gal, A.; Humphries, P.; Jay, B.; Jay, M.; Litt, M.; MacHler, M.; Musarella, M.; Neugebauer, M.; Nussbaum, R.L.; Terwilliger, J.D.; Weleber, R.G.; Wirth, B.; WONG, F.; Worton, R.G. and Wright, A.F. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.
    Proc Nat Acad Sci 87:701-704, 1990 PubMed Abstract
  4. Teague, P.W.; Aldred, M.A.; Jay, M.; Dempster, M.; Harrison, C.; Carothers, A.D.; Hardwick, L.J.; Evans, H.J.; Strain, L.; Brock, D.J.H.; Bundey, S.; Jay, B.; Bird, A.C.; Bhattacharya, S.S. and Wright, A.F. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. American Journal of Human Genetics 55(1):105-111, 1994
    PubMed Abstract
  5. Wright, A.F. Screening retinal disorders - searchlights through the fog.
    Nature Genetics 17:132-134, 1997
    PubMed Abstract
  6. Wright, A.F. For want of a disc, the cell was lost... Nature Medicine 6(5): 508-510, 2000
    PubMed Abstract
  7. Wright, A.F. and van Heyningen, V. Short cut to disease genes.
    Nature 414:705-706, 2001
    PubMed Abstract

 

Collaborations

  • University of Edinburgh Professor Baljean Dhillon and Dr. Brian Fleck (Department of Ophthalmic Surgery); Professor Paul Barlow (Department of Chemistry) MRC
  • University of Oxford Immunochemistry Unit, Dr Robert Sim
  • University of Pennsylvania School of Medicine Professor Samuel G. Jacobson and Dr. Artur Cideciyan (Scheie Eye Institute, Philadelphia, USA)
  • National Eye Institute (NIH, Bethesda, Maryland, USA) Professor Anand Swaroop
  • University of London Professor Robin Ali (Institute of Ophthalmology, UCL) Professor Anthony Moore (Institute of Ophthalmology, UCL)
  • University of Newcastle-upon-Tyne Professor Douglass M. Turnbull (Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry)
  • MRC Dunn Human Nutrition Unit (Cambridge Institute of Medical Research, Cambridge, UK) Dr. Michael P Murphy
  • Helmholtz Zentrum München, Institute of Human Genetics, Munich-Neuherberg, Germany Dr. Marius Ueffing
  • University of Cambridge (CIMR, Cambridge, UK) Professor John Yates

 


 

 

  1. Retinal Degeneration Programme
  2. Retinal Degeneration Programme Publications (this page)

 

 

Key Publications

Role of mitochondria and oxidative stress in neurodegeneration

  1. Wright, A.F.; Murphy, M.P. and Turnbull, D.M. Do organellar genomes function as long-term redox damage sensors? Trends in Genetics 25(6):253-261, 2009
  2. Wright, A.F.; Jacobson, S.G.; Cideciyan, A.V.; Roman, A.J.; Shu, X.; Vlachantoni, D.; McInnes, R.R. and Riemersma, R.A. Life span and mitchondrial control of neurodegeneration.
    Nature Genetics     36(11):1153-1158, 2004 PubMed Abstract

Identification and characterisation of new retinal disease genes: RPGR (causes X-linked retinitis pigmentosa and cone-rod dystrophy)

  1. Khanna, H.; Hurd, T.W.; Lillo, C.; Parapurqm, S.K.; Shu, X.; He, S.; Akimoto, M.; Wright, A.F.; Margolis, B.; Williams, D.S. and Swaroop, A. RPGR-ORF15, Which is Mutated in Retinitis Pigmentosa, Associates with SMC1,SMC3, and Microtubule Transport Proteins. Journal of Biological Chemistry 280(39):33580-33587, 2005
    PubMed Abstract
  2. Shu, X.; Fry, A.M.; Tulloch, B.; Manson, F.D.C.; Crabb, J.W.; Khanna, H.; Faragher, A.; Lennon, A.; He, S.; Trojan, P.; Giessl, A.; Wolfrum, U.; Vervoort, R.; Swaroop, A. and Wright, A.F. RPGR ORF15 isoform co-localises with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Human Molecular Genetics 14(9): 1183-1197, 2005
    PubMed Abstract
  3. Vervoort, R.; Lennon, A.; Bird, A.C.; Tulloch, B.; Axton, R.; Miano, M.G.; Meindl, A.; Meitinger, T.; Ciccodicola, A.A. and Wright, A.F. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
    Nat Genet 25(4):462-466, 2000
    PubMed Abstract
  4. Meindl, A.; Dry, K.; Hermann, K.; Manson, F.; Ciccodicola, A.A.; Edgar, A.; Carvalho, M.R.S.; Achatz, H.; Hellebrand, H.; Lennon, A.; Migliaccio, C.; Porter, K.; Zrenner, E.; Bird, A.; Jay, M.; Lorenz, B.; Wittwer, B.; D'Urso, M.; Meitinger, T. and Wright, A. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nature Genetics 13:35-42, 1996 PubMed Abstract

RPGRIP1 (causes Leber’s congenital amaurosis and retinitis pigmentosa)

  • Boylan, J.P. and Wright, A.F. Identification of a novel protein interacting with RPGR. Human Molecular Genetics 9(14):2085-2093, 2000
    PubMed Abstract

TULP1 (causes autosomal recessive retinitis pigmentosa)

  • Gu, S.; Lennon, A.; Li, Y.; Lorenz, B.; Fossarello, M.; North, M.; Gal, A. and Wright, A. Tubby-like protein 1 mutations in autosomal recessive reinitis pigmentosa. Lancet 351:1103-1104, 1998
    PubMed Abstract

NR2E3 (causes Enhanced S-Cone Syndrome and Goldmann-Favre disease)

  • Haider, N.B.; Jacobson, S.G.; Cideciyan, A.V.; Swiderski, R.; Streb, L.M.; Searby, C.; Beck, G.; Hockey, R.; Hanna, D.B.; Gorman, S.; Duhl, D.; Carmi, R.; Bennett, J.; Weleber, R.G.; Fishman, G.A.; Wright, A.F.; Stone, E.M. and Sheffield, V.C. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genetics 24(2):127-131, 2000
    PubMed Abstract

C1QTNF5 (causes late-onset retinal macular degeneration)

  1. Hayward, C.; Shu, X.; Cideciyan, A.V.; Lennon, A.; Barran, P.; Zareparsi, S.; Sawyer, L.; Hendry, G.; Dhillon, B.; Milam, A.H.; Luthert, P.J.; Swaroop, A.; Hastie, N.D.; Jacobson, S.G. and Wright, A.F. Mutation in a short chain collagen gene, CTRP5, results in extracellular deposit formation  in late-onset retinal degeneration: a genetic model for age-related macular degeneration. Human Molecular Genetics 12(20):2657-2667, 2003
    PubMed Abstract
  2. Shu, X.; Tulloch, B.; Lennon, A.; Vlachantoni, D.; Zhou, X.; Hayward, C. and Wright, A.F. Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.
    Hum Mol Genet 15(10):1680-1689, 2006 PubMed Abstract