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Volumn 6, Issue 6, 2011, Pages

A frameshift mutation in Golden Retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DOG; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINE; GENETIC VARIABILITY; GOLDEN RETRIEVER DOG; HOMOZYGOSITY; NONHUMAN; NUCLEOTIDE SEQUENCE; PROGRESSIVE RETINAL ATROPHY; RETINA DEGENERATION; RETINA DISEASE; RETINITIS PIGMENTOSA; SLC4A3 GENE; VISION; ANIMAL; DISEASE MODEL; GENETICS; HUMAN;

EID: 79959576223     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0021452     Document Type: Article
Times cited : (50)

References (43)
  • 1
    • 0023091261 scopus 로고
    • Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway
    • Grondahl J, (1987) Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet 31: 255-264.
    • (1987) Clin Genet , vol.31 , pp. 255-264
    • Grondahl, J.1
  • 2
    • 0026523666 scopus 로고
    • Prevalence of retinitis pigmentosa and allied disorders in Denmark. I Main results
    • Haim M, Holm NV, Rosenberg T, (1992) Prevalence of retinitis pigmentosa and allied disorders in Denmark. I Main results. Acta Ophthalmol (Copenh) 70: 178-186.
    • (1992) Acta Ophthalmol (Copenh) , vol.70 , pp. 178-186
    • Haim, M.1    Holm, N.V.2    Rosenberg, T.3
  • 3
    • 0024269064 scopus 로고
    • Retinitis pigmentosa
    • Pagon RA, (1988) Retinitis pigmentosa. Surv Ophthalmol 33: 137-177.
    • (1988) Surv Ophthalmol , vol.33 , pp. 137-177
    • Pagon, R.A.1
  • 4
    • 33846957381 scopus 로고    scopus 로고
    • Perspective on genes and mutations causing retinitis pigmentosa
    • Daiger SP, Bowne SJ, Sullivan LS, (2007) Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 125: 151-158.
    • (2007) Arch Ophthalmol , vol.125 , pp. 151-158
    • Daiger, S.P.1    Bowne, S.J.2    Sullivan, L.S.3
  • 5
    • 0345658369 scopus 로고
    • Degenerations of the dog retina. II. Generalized progressive atrophy of hereditary origin
    • Parry HB, (1953) Degenerations of the dog retina. II. Generalized progressive atrophy of hereditary origin. Br J Ophthalmol 37: 487-502.
    • (1953) Br J Ophthalmol , vol.37 , pp. 487-502
    • Parry, H.B.1
  • 6
    • 23944440385 scopus 로고    scopus 로고
    • Advances in the molecular understanding of canine retinal diseases
    • Petersen-Jones S, (2005) Advances in the molecular understanding of canine retinal diseases. J Small Anim Pract 46: 371-380.
    • (2005) J Small Anim Pract , vol.46 , pp. 371-380
    • Petersen-Jones, S.1
  • 7
    • 59649126704 scopus 로고    scopus 로고
    • Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3
    • Kukekova AV, Goldstein O, Johnson JL, Richardson MA, Pearce-Kelling SE, et al. (2009) Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome 20: 109-123.
    • (2009) Mamm Genome , vol.20 , pp. 109-123
    • Kukekova, A.V.1    Goldstein, O.2    Johnson, J.L.3    Richardson, M.A.4    Pearce-Kelling, S.E.5
  • 8
    • 33749430953 scopus 로고    scopus 로고
    • Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans
    • Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, et al. (2006) Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88: 551-563.
    • (2006) Genomics , vol.88 , pp. 551-563
    • Zangerl, B.1    Goldstein, O.2    Philp, A.R.3    Lindauer, S.J.4    Pearce-Kelling, S.E.5
  • 9
    • 0027262347 scopus 로고
    • Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene
    • Suber ML, Pittler SJ, Qin N, Wright GC, Holcombe V, et al. (1993) Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci U S A 90: 3968-3972.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 3968-3972
    • Suber, M.L.1    Pittler, S.J.2    Qin, N.3    Wright, G.C.4    Holcombe, V.5
  • 10
    • 0034532050 scopus 로고    scopus 로고
    • Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene
    • Dekomien G, Runte M, Godde R, Epplen JT, (2000) Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90: 261-267.
    • (2000) Cytogenet Cell Genet , vol.90 , pp. 261-267
    • Dekomien, G.1    Runte, M.2    Godde, R.3    Epplen, J.T.4
  • 11
    • 0032991252 scopus 로고    scopus 로고
    • cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog
    • Petersen-Jones SM, Entz DD, Sargan DR, (1999) cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest Ophthalmol Vis Sci 40: 1637-1644.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 1637-1644
    • Petersen-Jones, S.M.1    Entz, D.D.2    Sargan, D.R.3
  • 12
    • 0037197854 scopus 로고    scopus 로고
    • Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa
    • Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, et al. (2002) Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 99: 6328-6333.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 6328-6333
    • Kijas, J.W.1    Cideciyan, A.V.2    Aleman, T.S.3    Pianta, M.J.4    Pearce-Kelling, S.E.5
  • 13
    • 0032581494 scopus 로고    scopus 로고
    • Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia
    • Zhang Q, Acland GM, Parshall CJ, Haskell J, Ray K, et al. (1998) Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia. Gene 215: 231-239.
    • (1998) Gene , vol.215 , pp. 231-239
    • Zhang, Q.1    Acland, G.M.2    Parshall, C.J.3    Haskell, J.4    Ray, K.5
  • 14
    • 0036565892 scopus 로고    scopus 로고
    • Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
    • Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, et al. (2002) Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 11: 993-1003.
    • (2002) Hum Mol Genet , vol.11 , pp. 993-1003
    • Zhang, Q.1    Acland, G.M.2    Wu, W.X.3    Johnson, J.L.4    Pearce-Kelling, S.5
  • 15
    • 33748204582 scopus 로고    scopus 로고
    • Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis
    • Mellersh CS, Boursnell ME, Pettitt L, Ryder EJ, Holmes NG, et al. (2006) Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 88: 293-301.
    • (2006) Genomics , vol.88 , pp. 293-301
    • Mellersh, C.S.1    Boursnell, M.E.2    Pettitt, L.3    Ryder, E.J.4    Holmes, N.G.5
  • 16
    • 50649097717 scopus 로고    scopus 로고
    • A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund
    • Wiik AC, Wade C, Biagi T, Ropstad EO, Bjerkas E, et al. (2008) A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. Genome Res 18: 1415-1421.
    • (2008) Genome Res , vol.18 , pp. 1415-1421
    • Wiik, A.C.1    Wade, C.2    Biagi, T.3    Ropstad, E.O.4    Bjerkas, E.5
  • 17
    • 0027537770 scopus 로고
    • A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of keeshond dogs
    • Patterson DF, Pexieder T, Schnarr WR, Navratil T, Alaili R, (1993) A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of keeshond dogs. Am J Hum Genet 52: 388-397.
    • (1993) Am J Hum Genet , vol.52 , pp. 388-397
    • Patterson, D.F.1    Pexieder, T.2    Schnarr, W.R.3    Navratil, T.4    Alaili, R.5
  • 18
    • 77957067406 scopus 로고    scopus 로고
    • MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
    • Beggs AH, Bohm J, Snead E, Kozlowski M, Maurer M, et al. (2010) MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A 107: 14697-14702.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 14697-14702
    • Beggs, A.H.1    Bohm, J.2    Snead, E.3    Kozlowski, M.4    Maurer, M.5
  • 19
    • 0036667730 scopus 로고    scopus 로고
    • Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
    • Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, et al. (2002) Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet 11: 1823-1833.
    • (2002) Hum Mol Genet , vol.11 , pp. 1823-1833
    • Sidjanin, D.J.1    Lowe, J.K.2    McElwee, J.L.3    Milne, B.S.4    Phippen, T.M.5
  • 20
    • 0032582425 scopus 로고    scopus 로고
    • Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect
    • Aguirre GD, Baldwin V, Pearce-Kelling S, Narfstrom K, Ray K, et al. (1998) Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 4: 23.
    • (1998) Mol Vis , vol.4 , pp. 23
    • Aguirre, G.D.1    Baldwin, V.2    Pearce-Kelling, S.3    Narfstrom, K.4    Ray, K.5
  • 21
    • 0035032662 scopus 로고    scopus 로고
    • Gene therapy restores vision in a canine model of childhood blindness
    • Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, et al. (2001) Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 28: 92-95.
    • (2001) Nat Genet , vol.28 , pp. 92-95
    • Acland, G.M.1    Aguirre, G.D.2    Ray, J.3    Zhang, Q.4    Aleman, T.S.5
  • 22
    • 44249120315 scopus 로고    scopus 로고
    • Effect of gene therapy on visual function in Leber's congenital amaurosis
    • Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, et al. (2008) Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 358: 2231-2239.
    • (2008) N Engl J Med , vol.358 , pp. 2231-2239
    • Bainbridge, J.W.1    Smith, A.J.2    Barker, S.S.3    Robbie, S.4    Henderson, R.5
  • 23
    • 79959602469 scopus 로고    scopus 로고
    • PRA in Golden Retrievers
    • Available:. Accessed 24 June 2010
    • OptiGen®, (2008) PRA in Golden Retrievers. Available: http://www.optigen.com/opt9_pra_goldenrtvr.html. Accessed 24 June 2010.
    • (2008)
    • OptiGen1
  • 24
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5
  • 26
    • 0028124125 scopus 로고
    • AE3 anion exchanger isoforms in the vertebrate retina: developmental regulation and differential expression in neurons and glia
    • Kobayashi S, Morgans CW, Casey JR, Kopito RR, (1994) AE3 anion exchanger isoforms in the vertebrate retina: developmental regulation and differential expression in neurons and glia. J Neurosci 14: 6266-6279.
    • (1994) J Neurosci , vol.14 , pp. 6266-6279
    • Kobayashi, S.1    Morgans, C.W.2    Casey, J.R.3    Kopito, R.R.4
  • 27
    • 0025690859 scopus 로고
    • Molecular biology of the anion exchanger gene family
    • Kopito RR, (1990) Molecular biology of the anion exchanger gene family. Int Rev Cytol 123: 177-199.
    • (1990) Int Rev Cytol , vol.123 , pp. 177-199
    • Kopito, R.R.1
  • 28
  • 29
    • 66449105833 scopus 로고    scopus 로고
    • Molecular physiology and genetics of Na+-independent SLC4 anion exchangers
    • Alper SL, (2009) Molecular physiology and genetics of Na+-independent SLC4 anion exchangers. J Exp Biol 212: 1672-1683.
    • (2009) J Exp Biol , vol.212 , pp. 1672-1683
    • Alper, S.L.1
  • 30
    • 0033571054 scopus 로고    scopus 로고
    • Transport activity of AE3 chloride/bicarbonate anion-exchange proteins and their regulation by intracellular pH
    • Sterling D, Casey JR, (1999) Transport activity of AE3 chloride/bicarbonate anion-exchange proteins and their regulation by intracellular pH. Biochem J 344 Pt 1: 221-229.
    • (1999) Biochem J , vol.344 , Issue.Pt 1 , pp. 221-229
    • Sterling, D.1    Casey, J.R.2
  • 31
    • 0036262615 scopus 로고    scopus 로고
    • The AE gene family of Cl/HCO3- exchangers
    • Alper SL, Darman RB, Chernova MN, Dahl NK, (2002) The AE gene family of Cl/HCO3- exchangers. J Nephrol 15 (Suppl 5): S41-53.
    • (2002) J Nephrol , vol.15 , Issue.SUPPL. 5 , pp. 41-53
    • Alper, S.L.1    Darman, R.B.2    Chernova, M.N.3    Dahl, N.K.4
  • 32
    • 0037067718 scopus 로고    scopus 로고
    • The extracellular component of a transport metabolon. Extracellular loop 4 of the human AE1 Cl-/HCO3- exchanger binds carbonic anhydrase IV
    • Sterling D, Alvarez BV, Casey JR, (2002) The extracellular component of a transport metabolon. Extracellular loop 4 of the human AE1 Cl-/HCO3- exchanger binds carbonic anhydrase IV. J Biol Chem 277: 25239-25246.
    • (2002) J Biol Chem , vol.277 , pp. 25239-25246
    • Sterling, D.1    Alvarez, B.V.2    Casey, J.R.3
  • 34
    • 0034625056 scopus 로고    scopus 로고
    • Identification of the carbonic anhydrase II binding site in the Cl(-)/HCO(3)(-) anion exchanger AE1
    • Vince JW, Reithmeier RA, (2000) Identification of the carbonic anhydrase II binding site in the Cl(-)/HCO(3)(-) anion exchanger AE1. Biochemistry 39: 5527-5533.
    • (2000) Biochemistry , vol.39 , pp. 5527-5533
    • Vince, J.W.1    Reithmeier, R.A.2
  • 35
    • 0035411980 scopus 로고    scopus 로고
    • Carbonic anhydrase: in the driver's seat for bicarbonate transport
    • Sterling D, Reithmeier RA, Casey JR, (2001) Carbonic anhydrase: in the driver's seat for bicarbonate transport. JOP 2: 165-170.
    • (2001) JOP , vol.2 , pp. 165-170
    • Sterling, D.1    Reithmeier, R.A.2    Casey, J.R.3
  • 36
    • 0242497267 scopus 로고    scopus 로고
    • Deficient HCO3- transport in an AE1 mutant with normal Cl- transport can be rescued by carbonic anhydrase II presented on an adjacent AE1 protomer
    • Dahl NK, Jiang L, Chernova MN, Stuart-Tilley AK, Shmukler BE, et al. (2003) Deficient HCO3- transport in an AE1 mutant with normal Cl- transport can be rescued by carbonic anhydrase II presented on an adjacent AE1 protomer. J Biol Chem 278: 44949-44958.
    • (2003) J Biol Chem , vol.278 , pp. 44949-44958
    • Dahl, N.K.1    Jiang, L.2    Chernova, M.N.3    Stuart-Tilley, A.K.4    Shmukler, B.E.5
  • 37
    • 0025931129 scopus 로고
    • Localization and stoichiometry of electrogenic sodium bicarbonate cotransport in retinal glial cells
    • Newman EA, Astion ML, (1991) Localization and stoichiometry of electrogenic sodium bicarbonate cotransport in retinal glial cells. Glia 4: 424-428.
    • (1991) Glia , vol.4 , pp. 424-428
    • Newman, E.A.1    Astion, M.L.2
  • 39
    • 0027155640 scopus 로고
    • Structure and function of sodium-coupled neurotransmitter transporters
    • Kanner BI, (1993) Structure and function of sodium-coupled neurotransmitter transporters. Soc Gen Physiol Ser 48: 243-250.
    • (1993) Soc Gen Physiol Ser , vol.48 , pp. 243-250
    • Kanner, B.I.1
  • 40
    • 33746256021 scopus 로고    scopus 로고
    • Genetic heterogeneity of day blindness in Alaskan Malamutes
    • Seddon JM, Hampson EC, Smith RI, Hughes IP, (2006) Genetic heterogeneity of day blindness in Alaskan Malamutes. Anim Genet 37: 407-410.
    • (2006) Anim Genet , vol.37 , pp. 407-410
    • Seddon, J.M.1    Hampson, E.C.2    Smith, R.I.3    Hughes, I.P.4
  • 41
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen S, Skaletsky H, (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386.
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 42
    • 0027968068 scopus 로고
    • CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
    • Thompson JD, Higgins DG, Gibson TJ, (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22: 4673-4680.
    • (1994) Nucleic Acids Res , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3


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