Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65

Genomics

Volumn 57, Issue 1, 1999, Pages 57-61

  Veske, Andres ^a   Nilsson, Sven Erik G ^b   Narfström, Kristina ^c   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b LINKÖPING UNIVERSITY   (Sweden)

^c SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DOG; FRAMESHIFT MUTATION; GENE DELETION; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN MODIFICATION; RETINA DYSTROPHY; STOP CODON;

ANIMALIA; CANIS FAMILIARIS; MAMMALIA;

EID: 0033118884     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.5754     Document Type: Article

References (23)

1. Bavik C.-O., Levy F., Hellmann U., Wernstedt C., Eriksson U. The retinal pigment epithelial membrane receptor for plasma retinol-binding protein: Isolation and cDNA cloning of the 63-kDa protein. J. Biol. Chem. 268:1993;20540-20546.
2. Bunge S., Fuchs S., Gal A. Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids. Methods in Molecular Genetics. 1996;Academic Press, Orlando. p. 26-39.
3. Chenchik A., Moqadam F., Siebert F. Marathon cDNA amplification: A new method for cloning full-length cDNAs. CLONTECHniques. 1:1995;5-8.
4. Don R. H., Cox B. J., Wainwright B. J., Baker K., Mattick J. S. "Touchdown" PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res. 19:1991;4008.
5. Frohman M. A., Dush M. K., Martin G. R. Rapid production of full-length cDNA from rare transcripts: Amplification using a single gene-specific oligonucleotide primer. Proc. Natl. Acad. Sci. USA. 85:1988;8998-9002.
6. Gal A., Gu S.-G., Bremser D., Lorenz B., Apfelstedt-Sylla E., Zrenner E., Gerding H., Denton M. J., Thompson D. A. Mutation spectrum ofRPE65. Inv. Ophthalmol. Vis. Sci. 39:1998;S901.
7. Gu S.-G., Thompson D. A., Srikumari C. R. S., Lorenz B., Finckh U., Nicoletti A., Murthy K. R., Rathmann M., Kumaramanickavel G., Denton M. J., Gal A. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 17:1997;194-197.
8. Hamel C. P., Tsilou E., Pfeffer B. A., Hooks J. J., Detrick B., Redmond T. M. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro. J. Biol. Chem. 268:1993;15751-15757.
9. Marlhens F., Bareil C., Griffoin J.-M., Zrenner E., Amalric P., Eliaou C., Liu S.-Y., Harris E., Redmond T. M., Arnaud B., Clausters M., Hamel C. P. Mutations in RPE65 cause Leber's congenital amaurosis. Nat. Genet. 17:1997;194-197.
10. Morimura H., Fishman G. A., Grover S. A., Fulton A. B., Berson E. L., Dryja T. P. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc. Natl. Acad. Sci. USA. 95:1998;3088-3093.
11. Narfström K., Wrigstad A., Ekesten B., Nilsson S. E. G. Hereditary retinal dystrophy in the briard dog: Clinical and hereditary characteristics. Vet. Comp. Ophthalmol. 4:1994;85-92.
12. Narfström K., Wrigstad A., Nilsson S. E. G. The briard dog: A new animal model for congenital stationary night blindness. Br. J. Ophthalmol. 73:1989;750-756.
13. Nicoletti A., Wong D. J., Kawase K., Gibson L. H., Yang-Feng T. L., Richards J. E., Thompson D. A. Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium. Hum. Mol. Genet. 4:1995;641-649.
14. Nilsson S. E. G., Wrigstad A. The electrophysiology in some animal and human hereditary diseases involving the retinal pigment epithelium. Eye. 11:1997;698-706.
15. Nilsson S. E. G., Wrigstad A., Narfström K. Changes in the DC electroretinogram in briard dogs with hereditary congenital night blindness and partial day blindness. Exp. Eye Res. 54:1992;291-296.
16. Redmond T. M., Yu S., Lee E., Bok D., Hamasaki D., Chen N., Goletz P., Ma J-X., Crouch R. K., Pfeifer K. Rpe65cis. Nat. Genet. 20:1998;344-351.
17. Veske A., Narfström K., Finkch U., Sargan D. R., Nilsson S. E. G., Gal A. Isolation of canine retinal arrestin cDNA and exclusion of three candidate genes for Swedish briard retinal dystrophy. Curr. Eye Res. 16:1997a;270-274.
18. Veske A., Nilsson S. E. G., Finkch U., Narfström K., Petersen-Jones S., Gould D., Sargan D., Gal A. Hereditary retinal dystrophy of Swedish briard dogs: Exclusion of six candidate genes by molecular genetic analysis. LaVail M., Hollyfield J. G., Anderson R. E. Degenerative Retinal Diseases. 1997b;81-87 Plenum, New York.
19. Veske A., Nilsson S. E. G., Gal A. Characterization of canine rod photoreceptor cGMP-gated cation channel α-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish briards. Gene. 202:1997c;115-119.
20. Veske A., Nilsson S. E. G., Gal A. Organization of the canine gene encoding the E isoform of retinal guanylate cyclase (cGC-E) and exclusion of its involvement in the inherited Swedish briard-beagle retinal dystrophy. Biochem. Biophys. Acta. 1372:1998a;69-77.
21. Veske A., Nilsson S. E. G., Narfström K., Gal A. Retinal dystrophy of Swedish Briard/Briard-Beagle dogs is due to a 4-bp deletion in the canine RPE65 gene. Am. J. Hum. Genet. 63:1998b;A391.
22. Wrigstad A., Narfström K., Nilsson S. E. G. Slowly progressive changes of the retina and retinal pigment epithelium in briard dogs with hereditary retinal dystrophy. Doc. Ophthalmol. 87:1994;337-354.
23. Wrigstad A., Nilsson S. E. G., Narfström K. Ultrastructural changes of the retina and the retinal pigment epithelium in briard dogs with hereditary congenital night blindness and partial day blindness. Exp. Eye Res. 55:1992;805-818.