Strategies for identification of mutations causing hereditary retinal diseases in dogs: Evaluation of opsin as a candidate gene

Journal of Heredity

Volumn 90, Issue 1, 1999, Pages 133-137

  Ray, Kunal ^a   Wang, W ^a   Czarnecki, J ^a   Zhang, Q ^a   Acland, G M ^a   Aguirre, G D ^a  

^a Cornell University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; OPSIN;

ANIMAL MODEL; CONFERENCE PAPER; DOG; GENE MUTATION; GENETIC DISORDER; GENETIC LINKAGE; NIGHT BLINDNESS; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DISEASE; RETINA GYRATE ATROPHY;

ANIMALS; DOG DISEASES; DOGS; EXONS; HETERODUPLEX ANALYSIS; LINKAGE (GENETICS); MUTATION; NIGHT BLINDNESS; OPSIN; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RETINAL DEGENERATION;

ANIMALIA; CANIS FAMILIARIS;

EID: 0032950959     PISSN: 00221503     EISSN: None     Source Type: Journal    
DOI: 10.1093/jhered/90.1.133     Document Type: Conference Paper

References (32)

1. Acland GM and Aguirre GD, 1987. Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds. Exp Eye Res 44:491-521.
2. Acland GM, Fletcher RT, Gentleman S, Chader GJ, and Aguirre GD, 1989. Non-allelism of three genes (rcd1, rcd2 and erd) for early-onset hereditary retinal degeneration. Exp Eye Res 49:983-998.
3. Acland GM, Blanton SH, Hershfield B, and Aguirre, GD, 1994. XLPRA: a canine retinal degeneration inherited as an X-linked trait. Am J Med Genet 52:27-33.
4. Aguirre GD and Acland GM, 1988. Variation in retinal degeneration phenotype inherited at the prcd locus. Exp Eye Res 46:663-687.
5. Aguirre GD and Acland GM, 1991. Inherited retinal degeneration in the Labrador retriever. A new animal model of RP? [abstract]. Invest Ophthalmol Vis Sci 32(suppl):889.
6. Al-Maghtheh M, Gregory C, Inglehearn C, Hardcastle A, and Bhattacharya S, 1993. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Hum Mutat 2: 249-255.
7. Bowes C, Li T, Dancinger M, Baxter LC, Applebury ML, and Farber DB, 1990. Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase. Nature 347:677-680.
8. Chotai J, 1984. On the LOD score method in linkage analysis. Ann Hum Genet 48:359-378.
9. Dryja TP, 1997. Gene-based approach to human gene-phenotype correlations. Proc Natl Acad Sci USA 94: 12117-12121.
10. Dryja TP and Li T, 1995. Molecular genetics of retinitis pigmentosa. Hum Mol Genet 4:1739-1743.
11. Ganguly A, Rock MJ, and Prockop DJ, 1993. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329.
12. Gould DJ, Petersen-Jones SM, Sohal A, Barnett KC, and Sargan DR, 1995. Investigation of the role of opsin gene polymorphism in generalized progressive retinal atrophies in dogs. Anim Genet 26:261-267.
13. Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, and Dryja TP, 1995. Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase. Nat Genet 11:468-471.
14. Kumaramanickavel G, Maw M, Denton MJ, John S, Srisailapathy Srikumari CR, Orth U, Oehlmann R, Gal A, 1994. Missense rhodopsin mutation in a family with recessive RP. Nat Genet 8:10-11.
15. Lathrop GM and Lalouel JM, 1984. Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465.
16. Lingaas F, Sørensen A, Junja RK, Johansson S, Fredholm M, Winterø AK, Sampson J, Mellersh C, Curzon A, Holmes NG, Binns MM, Dickens HF, Ryder EJ, Gerlach J, Bäumle E, and Dolf G, 1997. Towards construction of a canine linkage map: establishment of 16 linkage groups. Mamm Genome 8:218-221.
17. Mellersh CS, Langston AA, Acland GM, Fleming MA, Ray K, Weigand NA, Francisco LV, Gibbs M, Aguirre GD, Ostrander EA, 1997. A linkage map of the canine genome. Genomics 46:326-336.
18. Narfström K, Wrigstad A, and Nilsson SEG, 1989. The Briard dog: a new animal model of congenital stationary night blindness. Br J Ophthalmol. 73:750-756.
19. Narfström K, Wrigstad A, Ekesten B, and Nilsson SEG, 1994. Hereditary retinal dystrophy in the briard dog: clinical and hereditary characteristics. Vet Comp Ophthalmol 4:85-92.
20. Parshall C, Wyman M, Nitroy S, Acland G, and Aguirre G, 1991. Photoreceptor dysplasia: an inherited progressive retinal atrophy of miniature Schnauzer dogs. Prog Vet Comp Ophthalmol 1:187-203.
21. Pittler SJ and Baehr W, 1991. Identification of a non-sense mutation in the rod photoreceptor cGMP phosphodiesterase β-subunit gene of the rd mouse. Proc Natl Acad Sci USA 88:8322-8326.
22. Ray K, Baldwin V, Acland G, Blanton S, and Aguirre G, 1994. Co-segregation of codon 807 mutation of the rod cGMP phosphodiesterase β gene (PDEB) in rcd1. Invest Ophthalmol Vis Sci 35:4291-4299.
23. Ray K, Baldwin VJ, Acland GM, and Aguirre GD, 1995. Molecular diagnostic tests for ascertainment of genotype at the rod cone dysplasia 1 (rcd1) locus in Irish setters. Curr Eye Res 14:243-247.
24. Ray K, Baldwin VJ, Zeiss C, Acland GM, and Aguirre GD, 1997. Canine rod transducin α-1: cloning of the cDNA and evaluation of the gene as a candidate for progressive retinal atrophy. Curr Eye Res 16:71-77.
25. Ray K, Trepanier LA, Acland GM, and Aguirre GD, 1996. PCR/RFLP marker in the canine opsin gene. Anim Genet 27:293-294.
26. Rosenfeld PJ, Cowley GS, McGee TL, Sondberg MA, Berson EL, and Dryja TP, 1992. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1: 209-213.
27. Sambrook J, Fritsch EF, and Maniatis T, 1989. Molecular cloning: a laboratory manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
28. Sieving PA, Richards JE. Naarendrop F, Bingham EL, Scott K, and Alpern M, 1995. Dark-light: model for night-blindness from the human rhodopsin Gly-90 → Asp mutation. Proc Natl Acad Sci USA 92:880-884.
29. Suber ML. Pittler SJ, Qin N, Wright GC, Holcombe V, Lee RH, Craft CM, Lolley RN, Baehr W, and Hurwitz RL, 1993. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase β-subunit gene. Proc Natl Acad Sci USA 90:3968-3972.
30. Terwilliger JD and Ott J, 1994. Handbook of human genetic linkage. Baltimore: Johns Hopkins University Press.
31. Werner P, Raducha MG, Prociuk U, Henthorn PS, and Patterson DF, 1997. Physical and linkage mapping of human chromosome 17 loci to dog chromosome 9 and 5. Genomics 42:74-82.
32. Wrigstad A, 1994. Hereditary dystrophy of the retina and the retinal pigment epithelium in a strain of briard dogs: a clinical, morphologic and electroretinographic study (medical dissertation 423). Linköping, Sweden: Linköping University.