Current developments in canine genetics

Berliner und Munchener Tierarztliche Wochenschrift

Volumn 123, Issue 7-8, 2010, Pages 325-338

  Marschall, Yvonne ^a   Distl, Ottmar ^a  

^a UNIVERSITY OF VETERINARY MEDICINE HANNOVER   (Germany)

Author keywords

Dog; Dog genome; Gene tests; Hip dysplasia; Quantitative trait loci (QTL)

Indexed keywords

CANIS FAMILIARIS;

ANIMAL; ANIMAL DISEASE; ARTICLE; BIOLOGICAL MODEL; CLASSIFICATION; DOG; DOG DISEASE; FEMALE; GENETIC DISORDER; GENETIC LINKAGE; GENETICS; GENOME; HUMAN; MUTATION; QUANTITATIVE TRAIT LOCUS; RESEARCH; SINGLE NUCLEOTIDE POLYMORPHISM; SPECIES DIFFERENCE;

ANIMALS; DOG DISEASES; DOGS; FEMALE; GENETIC DISEASES, INBORN; GENOME; HUMANS; LINKAGE (GENETICS); MODELS, GENETIC; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; RESEARCH; SPECIES SPECIFICITY;

EID: 77956627179     PISSN: 00059366     EISSN: None     Source Type: Journal    
DOI: 10.2376/0005-9366-123-325     Document Type: Article

References (154)

1. Aguirre GD, Baldwin V, Pearce-Kelling S, Narfström K, Ray K, Acland GM (1998): Congenital stationary night blidness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 30: 4-23.
2. Ameratunga R, Winkelstein JA, Brody L, Binns M, Cork LC, Colombani P, Valle D (1998): Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible fort he hereditary canine C3 deficiency. J Immunol 160: 2824-2830.
3. Andelfinger G, Wright KN, Lee HS, Siemens LM, Benson DW (2003): Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. J Med Genet 40: 320-324.
4. Andersson L, Georges M (2004): Domestic-animal genomics: deciphering the genetics of complex traits. Nat Reviews 5: 202-212. (Pubitemid 38294549)
5. Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB (2000): Canine heparin sulphate sulfamidase and the molecular pathology underlying Sanfilippo Syndrome Type A in Dachshunds. Genomics 68: 80-84.
6. Awano T, Katz ML, O'Brien DP, Taylor JF, Evans J, Khan S, Sohar I, Lobel P, Johnson GS (2006a): A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid Upofuscinosis. Mol Genet Metabol 87: 341-348.
7. Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, Coates JR, Khan S, Johnson GC, Giger U, Johnson GS (2006b): A frame shift mutation in canine TPPl (ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid Upofuscinosis. Mol Genet Metabol 89: 254-260.
8. Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M (2003): Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet 35: 90-96. (Pubitemid 37048601)
9. Berryere TG, Kerns JA, Barsh GS, Schmutz SM (2005): Association of an Agouti allele with fawn or sable coat colour in domestic dogs. Mamm Genome 16: 262-272.
10. Boudreux MK, Catalfarno JL (2001): Molecular and genetic basis for thrombasthenic thrombopathia in Otterhounds. Am J Vet Res 62:1797-1804.
11. Bradbury J (2005): Canine epilepsy gene mutation identified. Lancet Neurol 4:143.
12. Breen M, Bullerdiek J, Langford CF (1999): The DAPI banded karyotype of the domestic dog (Canis familiaris) generated using chromosome-specific paint probes. Chromosome Res 7: 401-406.
13. Breen M, Jouquand S, Renier C, Mellersh CS, Hitte C, Holmes NG, Chéron A, Suter N, Vignaux F, Bristow AE, Priat C, Mccann E, André C, Boundy S, Gitsham P, Thomas R, Bridge WL, Spriggs HF, Ryder EJ, Curson A, Sampson J, Ostrander EA, Binns MM, Galibert F (2001): Chromosome-specific single-locus HSH probes allow the anchorage of an 1800-marker integrated radiation-hybrid/linkage map of the domestic dog genome to all chromosomes. Genome Res 11:1784-1795. (Pubitemid 33040506)
14. Breen M, Hitte C, Lorentzen TD, Thomas R, Cadieu E, Sabacan L, Scott A, Evanno G, Parker HG, Kirkness EF, Hudson R, Guyon R, Mahairas GG, Gelfenbeyn B, Fraser CM, André C, Galibert F, Ostrander EA (2004): An integrated 4249 marker FISH/RH map of the canine genome. BMC Genomics 5: 65.
15. Brooks MB, Erb HN, Foureman PA, Ray K (2001): von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers. Am J Vet Res 62: 364-369. (Pubitemid 33605595)
16. Burton-Wurster N, Matescu RG, Todhunter RJ, Clements KM, Sun Q, Scarpino V, Lust G (2005): Genes in canine articular cartilage that respond to mechanical injury: gene expression studies with Affymetrix canine GeneChip. J Hered 96: 821-828.
17. Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U, High KA (2006): A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost 4: 2616-2622.
18. Cameron JM, Maj MC, Levabdovskiy V, Mackay N, Shelton GD, Robinson BH (2007): Identification of a canine model of pyruvate dehydrogenase phosphatise 1 deficiency. Mol Genet Metab 90:15-23.
19. Campbell BG, Wootton JA, Macleod JN, Minor RR (2001): Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha2(I) and severe osteogenesis imperfecta. J Bone Miner Res 16:1147-1153.
20. Capt A, Spirito F, Guaguere E, Spadafora A, Ortonne JP, Meneguzzi G (2005): Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol 124: 530-535.
21. Casal ML, Scheidt JL, Rhodes JL, Henthorn PS, Werner P (2005): Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm Genome 16: 524-531.
22. Chase K, Carrier DR, Adler FR, Jarvik T, Ostrander EA, Lorentzen TD, Lark KG (2002): Genetic basis for systems of skeletal quantitative traits: principal component analysis of the canid skeleton. Proc Natl Acad Sci USA 99: 9930-9935.
23. Chase K, Lawler DF, Adler FR, Ostrander EA, Lark KG (2004): Bilaterally asymmetric effects of quantitative trait loci (QTLs): QTLs that affect laxity in the right versus left coxofemoral (hip) joints of the dog (Canis familiaris). Am J Med Genet 124: 239-247.
24. Chase K, Lawler DF, Carrier DR, Lark KG (2005): Genetic regulation of osteoarthritis: A QTL regulating cranial and caudal acetabular osteophyte formation in the hip joint of the dog (Canis familiaris). Am J Med Genet 135: 334-335.
25. Chen X, Johnson GS, Schnabel RD, Taylor JF, Johnson GC, Parker HG, Patterson EE, Katz ML, Awano T, Khan S, O'Brien DP (2008): A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenet 9: 41-49.
26. Clark LA, Tsai KL, Steiner JM, Williams DA, Guerra T, Ostrander EA, Galibert F, Murphy KE (2004): Chromosome-specific microsatellite multiplex sets for linkage studies in the domestic dog. Genomics 84: 550-554.
27. Clark LA, Wahl JM, Rees CA, Murphy KE (2006): Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sei USA 103:1157-1158.
28. Credille KM, Barnhart KF, Minor JS, Dunstan RW (2005): Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol 153: 51-58.
29. Davidson AG, Bell RJ, Lees GE, Kashtan CE, Davidson GS, Murphy KE (2007): Genetic cause of autosomal recessive hereditary nephropathy in the English Cocker Spaniel. J Vet Intern Med 21: 394-401.
30. Dekomien G, Runte M, Gödde 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.
31. Derrien T, Andrè C, Galibert F, Hitte C (2007): Analysis of the unassembled part of the dog genome sequence: chromosomal localization of 115 genes inferred from multispecies comparative genomics. J Hered 98: 461-467.
32. Deschenes SM, Puck JM, Dutra AS, Somberg RL, Felsburg PJ, Henthorn PS (1994): Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency. Genomics 23: 62-68.
33. Ding Q, Bramble L, Yuzbasiyan-Gurkan V, Bell T, Meek K (2002): DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia. Gene 283: 263-269.
34. Drögemüller C, Karlsson EK, Hytönen MK, Perloski M, Dolf G, Sainio K, Lohi H, Lindblad-Toh K, Leeb T (2008): A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science 321:1462.
35. Ellinwood NM, Wang P, Skeen T, Sharp NJH, Cesta M, Decker S, Edwards NJ, Bublot I, Thomson JN, Bush W, Hardam E, Haskins ME, Giger U (2003): A model of mucopolysaccharidosis IIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha- Dglucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26: 489-504. (Pubitemid 37080620)
36. Evans J, Katz ML, Levesque D, Shelton GD, De Lahunta A, O'Brien D (2005): A variant form of neural ceroid Upofuscinosis in American bulldogs. J Vet Intern Med 19: 44-51.
37. Evans JP, Brinkhous KM, Brayer GD, Reisner HM, High KA (1989): Canine hemophilia B resulting from a point mutation with unusual consequences. Proc Natl Acad Sci USA 86: 10095-10099.
38. Everts RE, Rothuizen J, Van Oost BA (2000): Identification of a premature stop codon in the melanocyte-stimulationg hormone receptor gene (MClR) in Labrador and Golden retrievers with yeUow coat colour. Anim Genet 31:194-199.
39. Finnigan DF, Hanna WJ, Poma R, Bendall AJ (2007): A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog. J Vet Intern Med 21: 458-463.
40. Fischer PE, Holmes NG, Dickens HF, Thomas R, Binns MM, Nacheva EP (1996): The application of FISH techniques for physical mapping in the dog (Canis familiaris). Mamm Genome 7: 37-41.
41. Forman OP, Boursnell MEG, Dunmore BJ, Stendall N, Van De Sluis B, Fretwell N, Jones C, Wijmenga C, Rothuizen J, Van Oost BA, Holmes NG, Binns MM (2005): Characterization of the COMMDl (MURR1) mutation causing copper toxicosis in BedUngton terriers. Anim Genet 36: 497-501. (Pubitemid 43951333)
42. Francisco LV, Langston AA, Mellersh CS, Neal CL, Ostrander EA (1996): A class of highly polymorphic tetranucleotide repeats for canine genetic mapping. Mamm Genome 7: 359-362.
43. Fyfe JC, Kampschmidt K, Dang V, Poteet BA, He Q, Lowrie C, Graham PA, Fetro VM (2003): Congenital hypothyroidism with goiter in toy fox terriers. J Vet Intern Med 17: 50-57. (Pubitemid 37465371)
44. Galibert F, Andre C, Hitte C (2004): (Dog as a mammalian genetic model) Med. Sci. (Paris) 20: 761-766.
45. Geldermann H, Pieper U, Roth B (1985): Effects of marker chromosome sections on milk performances in cattle. Theor Appl Genet 70:138-146.
46. Geyer J, Klintzsch S, Meerkamp K, Wöhlke A, Distl O, Moritz A, Petzinger E (2007): Detection of the nt230(del4) MDR1 mutation in White Swiss Shepherd dogs: case reports of doramectin toxicosis, breed predisposition, and microsatelllite analysis. J Vet Pharmacol Therap 30: 482-485.
47. Goldstein O, Zangerl B, Pearce-Kelling S, Sidjanin DJ, Kijas JW, Felix J, Acland GM, Aguirre GD (2006): Linkage disequiUbrium mapping in domestic dog breeds narrows the progressive rod-degeneration interval and identifies ancestral diseasetransmitting chromosome. Genomics 88: 541-550.
48. Gregory BL, Shelton GD, Bali DS, Chen YT, Fyfe JC (2007): Glycogen storage disease type Ilia in curly-coated retrievers. J Vet Intern Med 21: 40-46.
49. Guyon R, Lorentzen TD, Hitte C, Kim L, Cadieu E, Parker HG, Quignon P, Lowe JK, Renier C, Gelfenbeyn B, Vignaux F, Defrance HB, Gloux S, Mahairas GG, André C, Galibert F, Ostrander EA (2003): A 1-Mb resolution radiation hybrid map of the canine genome. Proc Natl Acad Sci USA 100: 5296-5301. (Pubitemid 36542699)
50. Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, Grahn BH, Stone EM, Acland GM, Aguirre GD (2007): Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959-1967.
51. Haworth K, Putt W, Cattanach B, Breen M, Binns M, Lingaas F, Edwards YH (2001): Canine homolog of the T-box transcription factor T; failure of the protein to bind to its DNA target leads to a short-taU phenotype. Mamm Genome 12: 212-218.
52. He Q, Madsen M, Kilkenney A, Gregory B, Christensen EI, Vorum H, Hojrup P, Schärfer AA, Kirkness EF, Tanner SM, De La Chapelle A, Giger U, Moestrup SK, Fyfe JC (2005): Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. Blood 106:1447-1453. (Pubitemid 41129614)
53. Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ (1994): IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. Genomics 23: 69-74.
54. Henthorn PS, Liu J, Gidalevich T, Fang J, Casai M, Patterson D, Giger U (2000): Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Hum Genet 107: 295-303.
55. Holmes NG, Mellersh CS, Humphreys SJ, Binns MM, Holliman A, Curtis R, Sampson J (1993): Isolation and characterization of microsatelUtes from the canine genome. Anim Genet 24: 289-292.
56. Holmes NG, Dickens HF, Parker HL, Binns MM, Mellersh CS, Sampsons J (1995): Eighteen canine microsatellites. Anim Genet 26:132-133.
57. Hungs M, Fan J, Lin L, Maki RA, Mignot E (2001): Identification and functional analysis of mutations in the hypocretin (orexin) genes of narcoleptic canines. Genome Res 11: 531-539.
58. Jeon JT, Carlborg O, Törnsten A, Giuffra E, Armager V, Chardon P, Andersson-Eklund L, Andersson K, Hanson I, Lundström K, Andersson L (1999): A paternally expressed QTL affecting skeletal and cardiac muscle mass in pigs maps to the IGF2 locus. Nat Genet 21:157-158. (Pubitemid 29070357)
59. Kaae JA, Callan MB, Brooks MB (2007): Hereditary factor VII deficiency in the Alaskan Klee Kai dog. J Vet Intern Med 21: 976-981.
60. Karlsson EK, Baranowska I, Wade CM, Salmon Hillbertz NHC, Zody MC, Anderson N, Biagi TM, Patterson N, Rosengren Pielberg G, Kulbokas III E, Comstock KE, Keller ET, Mesirov JP, Von Euler H, Kämpe O, Hedhammar A, Lander ES, Andersson G, Andersson L, Lindblad-Toh K (2007): Efficient mapping of mendelian traits in dogs through genomewide association. Nat Genet 39:1321-1328. (Pubitemid 350034994)
61. Katz ML, Khan S, Awano T, Shahid SA, Siakotos AN, Johnson GS (2005): A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 327: 541-547.
62. Kennedy LJ, O'Neill TO, House A, Barness A, Kyöstila K, Innes K, Fretwell N, Day MJ, Catchpole B, Lohi H, Ollier WER (2008): Risk of anal furunculosis in German shepherd dogs is associated with the major histocompatibility complex. Tiss Antigens 71: 51-56. (Pubitemid 350243382)
63. Kerns JA, Newton J, Berryere TG, Rubin EM, Cheng JF, Schmutz SM, Barsh GS (2004): Characterization of the dog agouti gene and a nonagouti mutation in German shepherd dogs. Mamm Genome 15: 798-808.
64. Kerns JA, Cargill EJ, Clark LA, Candille SI, Berryere TG, Olivier M, Lust G, Todhunter RJ, Schmutz SM, Murphy KE, Barsh GS (2007): Linkage and segregation analysis of black and brindle coat colour in domestic dogs. Genet 176:1679-1689. (Pubitemid 47105226)
65. Kijas JM, Bauer TR Jr, Gäfvert S, Marklund S, Trowald-Wigh G, Johannisson A, Hedhammar A, Binns M, Juneja RK, Hickstein DD, Andersson L (1999): A missense mutation in the beta-2 integrin (ITGB2) causes canine leukocyte adhesion deficiency. Genomics 61:101-107. (Pubitemid 29487626)
66. Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM (2002): Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc Natl Acad Sci USA 99: 6328-6333.
67. Kirkness EF, Bafna V, Halpern AL, Levy S, Remington K, Rusch DB, Delcher AL, Pop M, Wang W, Fraser CM, Venter JC (2003): The dog genome: survey sequencing and comparative analysis. Science 301:1898-1903. (Pubitemid 37221394)
68. Kramer JW, Venta PJ, Klein SR, Cao Y, Schall WD, Yusbasiyan V (2004): A von Willebrand's factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand's disease in a line of german shorthaired pointer dogs.Vet Pathol 41: 221-228.
69. Kreutzer R, Leeb T, Müller G, Moritz A, Baumgärtner W (2005): A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan Huskies. Genetics 170:1857-1861.
70. Kukekova A, Nelson J, Kuchtey RW, Lowe JK, Johnson JI, Ostrander EA, Aguirre GD, Acland GM (2006): Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32. Invest Ophthalmol Vis Sci 47:1210-1215.
71. Langford CF, Fischer PE, Binns MM, Holmes NG, Carter NP (1996): Chromosome-specific paints from high-resolution flowkaryotype of the dog. Chromosome Res 4:115-123.
72. Lark KG, Chase K, Sutter NB (2006): Genetic architecture of the dog: sexual size dimorphism and functional morphology. Trends Genet 22:537-544.
73. Li FY, Cuddon PA, Song J, Wood SL, Patterson JS, Shelton GD, Duncan ID (2006): Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b Neurobiol Dis 21: 35-42.
74. Lin L, Faraco J, Li R, Kadotani H, Rogers W, Lin X, Qiu X, De Jong PJ, Nishino S, Mignot E (1999): The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 98: 365-376. (Pubitemid 29380571)
75. Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, Kamal M, Clamp M, Chang JL, Kulbokas EJ, Zody MC, Mauceli E, Xie X, Breen M, Wayne RK, Ostrander EA, Poning CP, Galibert F, Smith DR, Dejong PJ, Kirkness E, Alvarez P, Biagi T, Brockman W, Butler J, Chin CW, Cook A, Cuff J, Daly MJ, Decaprio D, Gnerre S, Grabherr M, Kellis M, Kleber M, Bardeleben C, Goodstadt L, Heger A, Hitte C, Kim L, Koepfli KP, Parker HG, Pollinger JP, Searle SM, Sutter NB, Thomas R, Webber C, Broad Institute Genome Sequencing Platform, Lander ES (2005): Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 438: 803-819. (Pubitemid 41753059)
76. Lingaas F, Sorensen A, Juneja RK, Johansson S, Fredholm M, Wintero AK, Sampson J, Mellersh C, Curzon A, Holmes NG, Binns MM, Dickens HF, Ryder EJ, Gerlach J, Baumle E, Dolf G (1997): Towards construction of a canine Unkage map: establishment of 16 linkage groups. Mamm Genome 8: 218-221. (Pubitemid 28060703)
77. Lingaas F, Comstock KE, Kirkness EF, Sorensen A, Aarskaug X Hitte C, Nickerson ML, Moe L, Schmidt LS, Thomas R, Breen M, Galibert F, Zbar B, Ostrander EA (2003): A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German shepherd dog. Hum Mol Genet 12: 3043-3053. (Pubitemid 37508877)
78. Lipscomb DL, Bourne C, Boudreaux MK (2000): Two genetic defects in alphallb are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: a 14-base insertion in exon13 and a splicing defect of intron 13. Vet Pathol 37: 581-588.
79. Liu T, Todhunter RJ, Wu S, Hou W, Mateescu R, Zhang Z, Burton-Wurster NI, Acland GM, Lust G, Wu R (2007): A random model for mapping imprinting quantitative trait loci in a structured pedigree: An implication for mapping canine hip dysplasia. Genomics 90: 276-284.
80. Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, Andre C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA (2005): Expanded repeat in canine epilepsy. Science 307: 81. (Pubitemid 40093480)
81. Lowe JK, Kukekova AV, Kirkness EF, Langlois MC, Aguirre GD, Acland GM, Ostrander EA (2003): Linkage mapping of the primary disease locus for collie eye anomaly. Genomics 82: 86-95. (Pubitemid 36693923)
82. Magnol JP, Pin D, Palazzi X, Lacour JP, Gache Y, Meneguzzi G (2005): (Characterization of a canine model of dystrophic bullous epidermolysis [DBE]. Development of a gene therapy protocol). Bull Acad Natl Med 189:119-121.
83. Marschall Y, Distl O (2007): Mapping Quantitative Trait Loci for canine hip dysplasia in German shepherd dogs. Mamm. Genome 18: 861-870.
84. Mauser AE, Whitlark J, Whitney KM, Lothrop CD (1996): A deletion mutation causes hemophilia B in Lhasa Apso dogs. Blood 88: 3451-3455.
85. Mealey KL, Bentjen SA, Gay JM, Cantor GH (2001): Ivermectin sensitivity in collies is associated with a deletion mutation of the MDR1 gene. Pharmacogenetics 11: 727-733.
86. Mellersh CS, Langston AA, Acland GM, Fleming MA, Ray K, Wiegand NA, Francisco LV, Gibbs M, Aguirre GD, Ostrander EA (1997): A Unkage map of the canine genome. Genomics 46: 326-336.
87. Mellersh CS, Hitte C, Richman M, Vignaux F, Priat C, Jouquand S, Werner P, André C, Derose S, Patterson DF, Ostrander EA, Galibert F (2000): An integrated linkage-radiation hybrid map of the canine genome. Mamm Genome 11:120-130. (Pubitemid 30054414)
88. Mellersh CS, Boursnell MEG, Pettitt L, Ryder EJ, Holmes NG, Grafham D, Forman OP, Sampson J, Barnett KC, Blanton S, Binns MM, Vaudin M (2006): Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 88: 293-301. (Pubitemid 44308275)
89. Mellersh CS, Pettitt L, Forman OP, Vaudin M, Barnett KC (2006): Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol 9: 369-378.
90. Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN (2005): A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86: 287-294.
91. Menon KP, Tieu PT, Neufeld EF (1992): Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics 14: 763-768.
92. Mosher DS, Quignon P, Bustamante CD, Sutter NB, Mellersh CS, Parker HG, Ostrander EA (2007): A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS Genet 3 (5): e79.
93. Nadon NL, Duncan ID, Hudson LD (1990): A point mutation in the proteolipid protein gene of the "shaking pup" interrupts oligodendrocyte development. Develop 110: 529-537.
94. Nakamura K, Watanabe M, Takanaka K, Sasaki Y, Ikeda T (2000): cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme. Int J Biochem Cell Biol 32:1183-1193.
95. Neff MW, Broman KW, Mellersh CS, Ray K, Acland GM, Aguirre GD, Ziegle JS, Ostrander EA, Rine J (1999): A second-generation genetic linkage map of the domestic dog, Canis familiaris. Genetics 151: 803-820. (Pubitemid 29082946)
96. Nelson OL, Carsten E, Bentjen SA, Mealey KL (2003): Ivermectin toxicity in an AustraUan Shepherd dog with the MDR1 mutation associated with ivermectin sensitivity in Collies. J Vet Intern Med 17: 354-356.
97. Oberbauer AM, Grossmann DI, Irion N, Schaffer AL, Eggleston ML, Famula TR (2003): The genetics of epilepsy in the Belgian Tervuren and Sheepdog. J Hered 94: 57-63. (Pubitemid 37553182)
98. Occhiodoro T, Anson DS (1996): Isolation of the canine alpha-Lfucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels. Mamm Genome 7: 271-274.
99. O' Sullivan FM, Murphy SK, Simel LR, McCann A, Callanan JJ, Nolan CM (2007): Imprinted expression of the canine IGF2R, in the absence of an anti-sense transcript or promoter methylation. Evol Dev 9: 579-589.
100. Ostrander EA, Sprague GF, Rine J (1993): Identification and characterization of dinucleotide repeat (CA)n markers for genetic mapping in dog. Genomics 16: 207-213.
101. Ostrander EA, Mapa FA, Yee M, Rine J (1995): One hundred and one new simple sequence repeat-based markers for the canine genome. Mamm Genome 6:192-195.
102. Ostrander EA, Galibert F, Patterson DF (2000): Canine genetics comes of age. Trends Genet 16:117-123.
103. Ostrander EA, Kruglyak L (2000): Unleashing the canine genome. Genome Res 10:1271-1274.
104. Parker HG, Kukekova AV, Akey DT, Goldstein O, Kirkness EF, Baysac KC, Mosher DS, Aguirre GD, Acland GM, Ostrander EA (2007): Breed relationships facilitate fine-mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Res 17:1562-1571.
105. Patterson D (2000): Companion animal medicine in the age of medical genetics. J Vet Intern Med 14:1-9.
106. Patterson EE, Minor KM, Tchernatynskaia AV, Taylor SM, Shelton GD, Ekenstedt KJ, Mickelson JR (2008): A canine DNM1 mutation is highly associated with the syndrome of exerciseinduced collapse. Nat Genet 40:1235-1239.
107. Pele M, Tiret L, Kessler JL, Blot S, Panthier JJ (2005): SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 14:1417-1427.
108. Penderis J, Calvin J, Abramson C, Jakobs C, Pettitt L, Binns MM, Verhoeven NM, O'Driscoll E, Platt SR, Mellersh CS (2007): L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 44: 334-340.
109. Petersen-Jones SM, Zhu FX (2000): Development and use of a polymerase chain reaction-based diagnostic test for the causal mutation of progressive retinal atrophy in Cardigan Welsh Corgis. Am J Vet Res 61: 844-846.
110. Philipp U, Hamann H, Mecklenburg L, Nishino S, Mignot E, Günzel-Apel AR, Schmutz SM, Leeb T (2005): Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs. BMC Genet 16: 6-34.
111. Priat C, Hitte C, Vignaux F, Renier C, Jiang Z, Jouquand S, Chéron A, André C, Galibert F (1998): A whole-genome radiation hybrid map of the dog genome. Genomics 54: 361-378. (Pubitemid 29036223)
112. Proschowsky HF, Flagstadt A, Cirera S, Joergensen CB, Fredholm M (2007): Identification of a mutation in the CHAT gene of Old Danish Pointing dogs affected with congenital myasthenic syndrome. J Hered 98: 539-543.
113. Rak SG, Drögemüller C, Leeb T, Quignon P, André C, Scott A, Breen M, Distl O (2003): Chromosomal assignment of 20 candidate genes for canine congenital sensorineural deafness by FISH and RH mapping. Cytogenet. Genome Res 101:130-135.
114. Ray J, Haskins ME, Ray K (1998): Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharidosis type VTI locus in dogs. Am J Vet Res 59:1092-1095.
115. Rhodes TH, Vite CH, Giger U, Patterson DF, Fahlke C, George AL Jr (1999): A missense mutation in canine C1C-1 causes recessive myotonia congenital in the dog. FEBS Lett 456: 54-58.
116. Richman M, Mellersh CS, André C, Galibert F, Ostrander EA (2001): Characterization of a minimal screening set of 172 microsatellite markers for genome-wide screens of the canine genome. J Biochem Biophys Methods 47:137-149.
117. Rieger M, Schwarz HP, Turecek PL, Dorner F, Van Mourik JA, Mannhalter C (1998): Identification of mutations in the canine von WUlebrand factor gene associated with type III von Willebrand disease. Thromb Haemost 80: 332-337.
118. Roberts MC, Mickelson JR, Patterson EE, Nelson TE, Armstrong PJ, Brunson DB, Hogan K (2001): Autosomal dominant canine maUgnant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1). Anesthesiology 95: 716-725.
119. Salmon Hillbertz NHC, Isaksson M, Karlsson EK, Hellmén E, Pielberg GR, Savolainen P, Wade CM, Von Euler H, Gustafson U, Hedhammar A, Nilsson M, Lindblad-Toh K, Andersson L, Andersson G (2007): Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nature Genet 39: 318-320.
120. Sargan DR (2004): IDID: inherited diseases in dogs: web-based information for canine inherited disease genetics. Mamm Genome 15: 503-506.
121. Sargan DR, Aquirre-Hernandez J, Galibert F, Ostrander EA (2007): An extended microsatellite set for linkage mapping in the domestic dog. J Hered 98: 221-231.
122. Schmutz SM, Berryere TG, Goldfinch AD (2002): TYRP1 and MC1R genotypes and their effects on coat color in dogs. Mamm Genome 13: 380-387.
123. Senger F, Cadieu E, Evanno G, Hitte C, Berkova N, Priat C, André C, Galibert F (2006): Construction and characterization of a high-resolution, 9000-rad canine radiation hybrid panel. Anim Genet 37: 527.
124. Sheridan O, Wortmann J, Harvey C, Hayden J, Haskins M (1994): Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII. Craniofac. Genet. Dev Biol 14: 7-15.
125. Sharp NJ, Kornegay JN, Van Camp SD, Herbstreith MH, Secore SL, Kettle S, Hund WY, Constantinou CD, Dykstra MJ, Roses AD (1992): An error in dystrophin mRNA processing in Golden Retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics 13:115-121.
126. Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA (2002): Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet 11:1823-1833.
127. Skelly BJ, Wallace M, Rajpurohit YR, Wang P, Giger U (1999): Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. Am J Vet Res 60:1169-1172.
128. Smith BF, Stedman H, Rajpurohit Y, Henthorn PS, Wolfe JH, Patterson DF, Giger U (1996): Molecular basis of canine muscle type phosphofructokinase deficiency. Am Soc Biochem Mol Biol 271: 20070-20074.
129. Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn PS (1995): A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunopathol 47: 203-213.
130. Starkey MP, Scase TJ, Mellersh CS, Murphy S (2005): Dogs really are man's best friend - canine genomics has applications in veterinary and human medicine! Brief Funct Genomic Proteomic 4:112-128.
131. Suber ML, Pittler SJ, Qin N, Wright GC, Holcombe V, Lee RH, Craft CM, Lolley RN, Baehr W, Hurwitz RL (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 USA 90: 3968-3972.
132. Sutter NB, Eberle MA, Parker HG, Pullar BJ, Kirkness EF, Kruglyak L, Ostrander EA (2004): Extensive and breed-specific Unkage disequilibrium in Canis familiaris. Genome Res 14: 2388-2396.
133. Sutter NB, Bustamante CD, Chase K, Gray MM, Zhao K, Zhu L, Padhukasahasram B, Karlins E, Davis S, Jones PG, Quignon P, Johnson GS, Parker HG, Fretwell N, Mosher DS, Lawier DF, Satyaraj E, Nordborg M, Lark KG, Wayne RK, Ostrander EA (2007): A single IGF1 allele is a major determinant of small size in dogs. Science 316:112-115. (Pubitemid 46559530)
134. Switonski M, Reimann N, Bosma AA, Long S, Bartnitzke S, Pienkowska A, Moreno-Milan MM, Fischer P (1996): Report on the progress of standardization of the G-banded canine (Canis familiaris) karyotype. Chromosome Res 4: 306-309.
135. Switonski M, Szczerbal I, Nowacka J (2004): The dog genome map and its use in mammalian comparative genomics. J Appl Genet 45:195-214.
136. Syvänen AC (2005): Toward genome-wide SNP genotyping. Nat Genet 37: 5-10.
137. Thomas R, Duke SE, Bloom SK, Breen TE, Young AC, Feistl E, Seiser EL, Tsai PC, Langford CF, Ellis P, Karlsson EK, Lindblad-Toh K, Breen M (2007): A cytogenetically characterized, genome-anchored 10-Mb BAC and CGH array for the domestic dog. J Hered 98: 474-184.
138. Todhunter RJ, Mateescu R, Lust G, Burton-Wurster NI, Dykes NL, Bliss SP, Williams AJ, Vernier-Singer M, Corey E, Harjes C, Quaas RL, Zhang Z, Gilbert RO, Volkman D, Casella G, Wu R, Acland GM (2005): Quantitative trait loci for hip dysplasia in a crossbreed canine pedigree. Mamm Genome 16: 720-730. (Pubitemid 41484217)
139. Tsai KL, Murphy KE (2006): Clinical and genetic assessments of hip joint laxity in the Boykin spaniel. Can J Vet Res 70:148-150.
140. Vacik X Forejt J (2003): Quantification of expression and methylation of the Igf2r imprinted gene in a segmental trisomie mouse model. Genomics 82: 261-268.
141. Van De Sluis B, Rothuizen J, Pearson PL, Van Oost BA, Wijmenga C (2002): Idenitfication of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 11:165-173.
142. Venta PJ, Li J, Yuzbasiyan-Gurkan V, Brewer GJ, Schall WD (2000): Mutation causing von Willebrand's disease in Scottish Terriers. J Vet Intern Med 14:10-19.
143. Victoria T, Rafi MA, Wenger DA (1996): Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn Terriers. Genomics 33: 457-462.
144. Vignaux F, Hitte C, Priat C, Chuat JC, Andre C, Galibert F (1999): Construction and optimization of a dog whole-genome radiation hybrid panel. Mamm Genome 10: 888-894.
145. Wang ZH, Zeng B, Shibuya H, Johnson GS, Alroy J, Pastores GM, Raghavan S, Kolodny EH (2000): Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis 23: 593-606.
146. Wayne ML, Mclntyre LM (2002): Combining mapping and arraying: An approach to candidate gene identification. Proc Natl Acad Sci USA 99:14903-14906.
147. Werner P, Mellersh CS, Raducha MG, Derose S, Acland GM, Prociuk U, Wiegand N, Aguirre GD, Henthorn PS, Patterson DF, Ostrander EA (1999): Anchoring of canine linkage groups with chromosome-specific markers. Mamm Genome 10: 814-823. (Pubitemid 29390558)
148. Wiik AC, Wade C, Biagi T, Ropstad EO, Bjerkås E, Lindblad-Toh K, Lingaas F (2008): A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired Dachshund. Genome Res 18:1415-1421.
149. Whitney KM, Goodman SA, Bailey EM, Lothrop CD jr (1994): The molecular basis of canine pyruvate kinase deficiency. Exp Hematol 22: 866-874.
150. Yamato O, Endoh D, Kobayashi A, Masuoka Y, Yonemura M, Hatakeyama A, Satoh H, Tajima M, Yamasaki M, Maede Y (2002): A novel mutation in the gene for canine acid betagalactosidase that causes GM1-gangliosidosis in Shiba dogs. J Inherit Metab Dis 25: 525-526.
151. Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD (2006): Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88: 551-563. (Pubitemid 44512077)
152. Zhang Q, Acland GM, Parshall CJ, Haskell J, Ray K, Aguirre GD (1998): Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia. Gene 215: 231-239.
153. Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD (2002): Different RPGR exon ORF15 mutations in canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 11: 993-1003.
154. Zheng K, Thorner PS, Marrano P, Baumal R, Mcinnes RR (1994): Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV. Proc Natl Acad Sci USA 91: 3989-3993.