The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9

BMC Veterinary Research

Volumn 3, Issue , 2007, Pages

  Aguirre Hernández, Jesús ^a   Wickström, Kaisa ^b   Sargan, David R ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b Elainlääkäriasema Akuutti ^*  (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CANIS FAMILIARIS;

DNA; MICROSATELLITE DNA;

ANIMAL; ANIMAL DISEASE; ARTICLE; ATROPHY; CENTROMERE; CHROMOSOME; CHROMOSOME MAP; DOG; DOG DISEASE; FEMALE; FINLAND; GENETICS; GENOTYPE; MALE; MUTATION; PEDIGREE; RETINA DISEASE;

ANIMALS; ATROPHY; CENTROMERE; CHROMOSOME MAPPING; CHROMOSOMES, MAMMALIAN; DNA; DOG DISEASES; DOGS; FEMALE; FINLAND; GENOTYPE; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; RETINAL DISEASES;

EID: 34548217704     PISSN: None     EISSN: 17466148     Source Type: Journal    
DOI: 10.1186/1746-6148-3-14     Document Type: Article

References (36)

1. Sargan DR: IDID: inherited diseases in dogs: web-based information for canine inherited disease genetics. Mamm Genome 2004, 15(6):503-506.
2. Sutter NB, Ostrander EA: Dog star rising: the canine genetic system. Nat Rev Genet 2004, 5(12):900-910.
3. Lander ES, Botstein D: Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987, 236(4808):1567-1570.
4. Mueller RF, Bishop DT: Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. J Med Genet 1993, 30(9):798-799.
5. Farrall M: Homozygosity mapping: familiarity breeds debility. Nat Genet 1993, 5(2):107-108.
6. Sheffield VC, Stone EM, Carmi R: Use of isolated inbred human populations for identification of disease genes. Trends Genet 1998, 14(10):391-396.
7. Moody JA, Famula TR, Sampson RC, Murphy KE: Identification of microsatellite markers linked to progressive retinal atrophy in American Eskimo Dogs. Am J Vet Res 2005, 66(11):1900-1902.
8. Aguirre-Hernandez J, Sargan DR: Evaluation of candidate genes in the absence of positional information: a poor bet on a blind dog! J Hered 2005, 96(5):475-484.
9. Clements PJ, Gregory CY, Peterson-Jones SM, Sargan DR, Bhattacharya SS: Confirmation of the rod cGMP phosphodiesterase beta subunit (PDE beta) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test. Curr Eye Res 1993, 12(9):861-866.
10. Ray K, Baldwin VJ, Acland GM, Blanton SH, Aguirre GD: Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase beta gene and rcd1. Invest Ophthalmol Vis Sci 1994, 35(13):4291-4299.
11. Suber ML, Pittler SJ, Qin N, Wright GC, Holcombe V, Lee RH, Craft CM, Lolley RN, Baehr W, Hurwitz RL: Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci USA 1993, 90(9):3968- 3972.
12. Dekomien G, Runte M, Godde R, Epplen JT: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 2000, 90 (3-4):261-267.
13. Zhang Q, Acland GM, Parshall CJ, Haskell J, Ray K, Aguirre GD: Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia. Gene 1998, 215(2):231-239.
14. Aguirre GD, Baldwin V, Pearce-Kelling S, Narfstrom K, Ray K, Acland GM: Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 1998, 4(1):23.
15. Veske A, Nilsson SE, Narfstrom 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 1998, 63 (suppl):A391.
16. Veske A, Nilsson SE, Narfstrom K, Gal A: Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics 1999, 57(1):57-61.
17. Petersen-Jones SM, Entz DD, Sargan DR: cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest Ophthalmol Vis Sci 1999, 40(8):1637-1644.
18. Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM: Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc Natl Acad Sci USA 2002, 99(9):6328-6333.
19. Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD: Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 2002, 11(9):993-1003.
20. Acland GM, Ray K, Mellersh CS, Langston AA, Rine J, Ostrander EA, Aguirre GD: A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration. Genomics 1999, 59(2):134-142.
21. Kukekova AV, Nelson J, Kuchtey RW, Lowe JK, Johnson JL, Ostrander EA, Aguirre GD, Acland GM: Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32. Invest Ophthalmol Vis Sci 2006, 47(3):1210-1215.
22. Acland GM, Ray K, Mellersh CS, Gu W, Langston AA, Rine J, Ostrander EA, Aguirre GD: Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. Proc Natl Acad Sci USA 1998, 95(6):3048-3053.
23. Aguirre GD, Acland GM: Variation in retinal degeneration phenotype inherited at the prcd locus. Exp Eye Res 1988, 46(5):663-687.
24. Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, et al.: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 2006, 88(5):551-563.
25. Agarwala R, Biesecker LG, Hopkins KA, Francomano CA, Schaffer AA: Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County. Genome Res 1998, 8(3):211-221.
26. Genin E, Todorov AA, Clerget-Darpoux F: Optimization of genome search strategies for homozygosity mapping: influence of marker spacing on power and threshold criteria for identification of candidate regions. Ann Hum Genet 1998, 62 (Pt 5):419-429.
27. Sham PC, Curtis D: Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet 1995, 59 (Pt 1):97-105.
28. Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, Kamal M, Clamp M, Chang JL, Kulbokas EJ 3rd, Zody MC, et al.: Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 2005, 438(7069):803-819.
29. Sheffield VC, Nishimura DY, Stone EM: Novel approaches to linkage mapping. Curr Opin Genet Dev 1995, 5(3):335-341.
30. Barcellos LF, Klitz W, Field LL, Tobias R, Bowcock AM, Wilson R, Nelson MP, Nagatomi J, Thomson G: Association mapping of disease loci, by use of a pooled DNA genomic screen. Am J Hum Genet 1997, 61(3):734-747.
31. Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM: Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 1994, 3(8):1331-1335.
32. Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC: Use of a DNA pooling srategy to identufy a human obesity syndrome locus on chromosome 15. Human Molecular Genetics 1995, 4(1):9-13.
33. Sidjanin DJ, Miller B, Kijas J, McElwee J, Pillardy J, Malek J, Pai G, Feldblyum T, Fraser C, Acland G, et al.: Radiation hybrid map, physical map, and low-pass genomic sequence of the canine prcd region on CFA9 and comparative mapping with the syntenic region on human chromosome 17. Genomics 2003, 81(2):138-148.
34. Edwards BJ, Haynes C, Levenstien MA, Finch SJ, Gordon D: Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies. BMC Genet 2005, 6(1):18.
35. Moskvina V, Holmans P, Schmidt KM, Craddock N: Design of casecontrols studies with unscreened controls. Ann Hum Genet 2005, 69 (Pt 5):566-576.
36. Neff MW, Broman KW, Mellersh CS, Ray K, Acland GM, Aguirre GD, Ziegle JS, Ostrander EA, Rine J: A second-generation genetic linkage map of the domestic dog, Canis familiaris. Genetics 1999, 151(2):803-820.