- About this Journal ·
- Abstracting and Indexing ·
- Advance Access ·
- Aims and Scope ·
- Annual Issues ·
- Article Processing Charges ·
- Articles in Press ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
Stem Cells International
Volume 2012 (2012), Article ID 685901, 12 pages
Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to an RPGRIP1 Mutation
1Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA
2Department of Ophthalmology, Mason Eye Institute, University of Missouri, Columbia, MO 65211, USA
3Department of Veterinary Medicine and Surgery, College of Veterinary Medicine and BK21 Program for Veterinary Science, Seoul National University, Seoul 151-742, Republic of Korea
4Eye Care For Animals, VA, 20176-3367, USA
5Biostatistics, School of Medicine, University of Missouri, Columbia, MO 65211, USA
6Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 750 07 Uppsala, Sweden
Received 12 September 2011; Revised 9 November 2011; Accepted 15 November 2011
Academic Editor: Henry J. Klassen
Copyright © 2012 Kristina Narfström et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- K. Lindblad-Toh, C. M. Wade, T. S. Mikkelsen et al., “Genome sequence, comparative analysis and haplotype structure of the domestic dog,” Nature, vol. 438, no. 7069, pp. 803–819, 2005.
- J. A. Leonard, R. K. Wayne, J. Wheeler, R. Valadez, S. Guillén, and C. Vilà, “Ancient DNA evidence for old world origin of New World dogs,” Science, vol. 298, no. 5598, pp. 1613–1616, 2002.
- P. Savolainen, Y. P. Zhang, J. Luo, J. Lundeberg, and T. Leitner, “Genetic evidence for an East Asian origin of domestic dogs,” Science, vol. 298, no. 5598, pp. 1610–1613, 2002.
- B. M. Vonholdt, J. P. Pollinger, K. E. Lohmueller et al., “Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication,” Nature, vol. 464, no. 7290, pp. 898–902, 2010.
- E. K. Karlsson, I. Baranowska, C. M. Wade et al., “Efficient mapping of mendelian traits in dogs through genome-wide association,” Nature Genetics, vol. 39, no. 11, pp. 1321–1328, 2007.
- S. Petersen-Jones, “Advances in the molecular understanding of canine retinal diseases,” Journal of Small Animal Practice, vol. 46, no. 8, pp. 371–380, 2005.
- M. Menotti-Raymond, V. A. David, A. A. Schäffer et al., “Mutation in CEP290 discovered for cat model of human retinal degeneration,” Journal of Heredity, vol. 98, no. 3, pp. 211–220, 2007.
- A. I. den Hollander, R. Roepman, R. K. Koenekoop, and F. P. M. Cremers, “Leber congenital amaurosis: genes, proteins and disease mechanisms,” Progress in Retinal and Eye Research, vol. 27, no. 4, pp. 391–419, 2008.
- B. Zangerl, O. Goldstein, A. R. Philp et al., “Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans,” Genomics, vol. 88, no. 5, pp. 551–563, 2006.
- G. Dekomien, M. Runte, R. Gödde, and J. T. Epplen, “Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene,” Cytogenetics and Cell Genetics, vol. 90, no. 3-4, pp. 261–267, 2000.
- L. M. Downs, B. Wallin-Håkansson, M. Boursnell et al., “A frameshift mutation in Golden Retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations,” PLoS ONE, vol. 6, no. 6, article e21452, 2011.
- M. B. Jeong, C. H. Han, K. Narfström et al., “A phosducin (PDC) gene mutation does not cause progressive retinal atrophy in Korean miniature schnauzers,” Animal Genetics, vol. 39, no. 4, pp. 455–456, 2008.
- E. M. Stone, “Leber congenital amaurosis—a model for efficient genetic testing of heterogeneous disorders. LXIV Edward Jackson Memorial Lecture,” American Journal of Ophthalmology, vol. 144, no. 6, pp. 791–811, 2007.
- E. M. Stone, “Finding and interpreting genetic variations that are important to ophthalmologists,” Transactions of the American Ophthalmological Society, vol. 101, pp. 437–484, 2003.
- K. Narfström and S. Petersen-Jones, “Diseases of the canine ocular fundus,” in Veterinary Ophthalmology, K. N. Gelatt, Ed., vol. 2, pp. 944–1025, Blackwell Publishing, 4th edition, 2007.
- J. Hyman, S. A. Koch, J. P. Pickett, and S. Estep, “A unique retinal degenerative disease in the English Springer Spaniel; a continued prospective study,” in Proceedings of the European College of Veterinary Ophthalmology Stockholm Meeting, p. 34, 2001.
- T. P. Dryja, S. M. Adams, J. L. Grimsby et al., “Null RPGRIP1 alleles in patients with Leber congenital amaurosis,” American Journal of Human Genetics, vol. 68, no. 5, pp. 1295–1298, 2001.
- A. Hameed, A. Abid, A. Aziz, M. Ismail, S. Q. Mehdi, and S. Khaliq, “Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy,” Journal of Medical Genetics, vol. 40, no. 8, pp. 616–619, 2003.
- J. C. Booij, R. J. Florijn, J. B. ten Brink et al., “Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa,” Journal of Medical Genetics, vol. 42, no. 11, p. e67, 2005.
- R. Roepman, N. Bernoud-Hubac, D. E. Schick et al., “The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors,” Human Molecular Genetics, vol. 9, no. 14, pp. 2095–2105, 2000.
- Q. Zhang, G. M. Acland, W. X. Wu et al., “Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration,” Human Molecular Genetics, vol. 11, no. 9, pp. 993–1003, 2002.
- E. O. Ropstad, K. Narfström, F. Lingaas, C. Wiik, A. Bruun, and E. Bjerkas, “Functional and structural changes in the retina of wirehaired dachshunds with early onset cone-rod dystrophy,” Investigative Ophthalmology & Visual Science, vol. 49, no. 3, pp. 1106–1115, 2008.
- A. C. Wiik, C. Wade, T. Biagi et al., “A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund,” Genome Research, vol. 18, no. 9, pp. 1415–1421, 2008.
- K. Narfström, K. Holland Deckman, and M. Menotti-Rymond, “The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness,” Journal of Ophthalmology, vol. 2011, Article ID 906943, 8 pages, 2011.
- G. J. Pazour, S. A. Baker, J. A. Deane et al., “The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance,” Journal of Cell Biology, vol. 157, no. 1, pp. 103–113, 2002.
- Y. Zhao, D. H. Hong, B. Pawlyk et al., “The retinitis pigmentosa GTPase regulator (RPGR)-interacting protein: subserving RPGR function and participating in disk morphogenesis,” Proceedings of the National Academy of Sciences of the United States of America, vol. 100, no. 7, pp. 3965–3970, 2003.
- C. S. Mellersh, M. E. G. Boursnell, L. Pettitt et al., “Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis,” Genomics, vol. 88, no. 3, pp. 293–301, 2006.
- K. Narfström, E. Bjerkås, and B. Ekesten, “Visual impairment,” in Small Animal Ophthalmology, a Problem Oriented Approach, R. L. Peiffer and S. M. Petersen-Jones, Eds., pp. 85–165, Saunders, 2nd edition, 2000.
- S. Rozen and H. Skaletsky, “Primer3 on the WWW for general users and for biologist programmers,” Methods in Molecular Biology, vol. 132, pp. 365–386, 2000.
- K. Narfström, B. Ekesten, S. G. Rosolen, B. M. Spiess, C. L. Percicot, and R. Ofri, “Guidelines for clinical electroretinography in the dog,” Documenta Ophthalmologica, vol. 105, no. 2, pp. 83–92, 2002.
- R. Guyon, S. E. Pearce-Kelling, C. J. Zeiss, G. M. Acland, and G. D. Aguirre, “Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa,” Molecular Vision, vol. 13, pp. 1094–1105, 2007.
- N. Udar, S. Yelchits, M. Chalukya et al., “Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance,” Human Mutation, vol. 21, no. 2, pp. 170–171, 2003.
- K. Yagasaki and S. G. Jacobson, “Cone-rod dystrophy. Phenotypic diversity by retinal function testing,” Archives of Ophthalmology, vol. 107, no. 5, pp. 701–708, 1989.
- K. Miyadera, K. Kato, J. Aguirre-Hernández et al., “Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation,” Molecular Vision, vol. 15, pp. 2287–2305, 2009.
- O. Goldstein, J. G. Mezey, A. R. Boyko et al., “An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9,” Molecular Vision, vol. 16, pp. 1549–1569, 2010.
- G. Dekomien, C. Vollrath, E. Petrasch-Parwez et al., “Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene,” Neurogenetics, vol. 11, no. 2, pp. 163–174, 2010.
- D. J. Sidjanin, J. K. Lowe, J. L. McElwee et al., “Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3,” Human Molecular Genetics, vol. 11, no. 16, pp. 1823–1833, 2002.
- A. V. Kukekova, O. Goldstein, J. L. Johnson et al., “Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3,” Mammalian Genome, vol. 20, no. 2, pp. 109–123, 2009.
- J. W. Kijas, A. V. Cideciyan, T. S. Aleman et al., “Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa,” Proceedings of the National Academy of Sciences of the United States of America, vol. 99, no. 9, pp. 6328–6333, 2002.
- A. Veske, S. E. G. Nilsson, K. Narfström, and A. Gal, “Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65,” Genomics, vol. 57, no. 1, pp. 57–61, 1999.
- K. E. Guziewicz, B. Zangerl, S. J. Lindauer et al., “Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease,” Investigative Ophthalmology and Visual Science, vol. 48, no. 5, pp. 1959–1967, 2007.
- M. L. Suber, S. J. Pittler, N. Qin et al., “Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase β-subunit gene,” Proceedings of the National Academy of Sciences of the United States of America, vol. 90, no. 9, pp. 3968–3972, 1993.
- S. M. Petersen-Jones, D. D. Entz, and D. R. Sargan, “cGMP phosphodiesterase-α mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog,” Investigative Ophthalmology and Visual Science, vol. 40, no. 8, pp. 1637–1644, 1999.
- Q. Zhang, G. M. Acland, C. J. Parshall, J. Haskell, K. Ray, and G. D. Aguirre, “Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia,” Gene, vol. 215, no. 2, pp. 231–239, 1998.
- G. M. Acland, G. D. Aguirre, J. Ray et al., “Gene therapy restores vision in a canine model of childhood blindness,” Nature Genetics, vol. 28, no. 1, pp. 92–95, 2001.
- A. M. Maguire, K. A. High, A. Auricchio et al., “Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial,” The Lancet, vol. 374, no. 9701, pp. 1597–1605, 2009.
- F. Simonelli, A. M. Maguire, F. Testa et al., “Gene therapy for leber's congenital amaurosis is safe and effective through 1.5 years after vector administration,” Molecular Therapy, vol. 18, no. 3, pp. 643–650, 2010.
- R. Ofri and K. Narfström, “Light at the end of the tunnel? Advances in the understanding and treatment of glaucoma and inherited retinal degeneration,” Veterinary Journal, vol. 174, no. 1, pp. 10–22, 2007.