Man's best friend becomes biology's best in show: Genome analyses in the domestic dog

Annual Review of Genetics

Volumn 44, Issue , 2010, Pages 309-336

  Parker, Heidi G ^a   Shearin, Abigail L ^a,b   Ostrander, Elaine A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

canine; complex traits; domestication; genomics; GWAS; linkage disequilibrium

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CYTOKERATIN 7; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; FIBROBLAST GROWTH FACTOR 5; OREXIN 2 RECEPTOR;

ANIMAL GENETICS; ANXIETY; ATTENTION DEFICIT DISORDER; BREED DIFFERENCE; BREEDING LINE; CENTROMERE; COMPULSION; COPY NUMBER VARIATION; DOG; DOG DISEASE; DOMESTIC ANIMAL; DOMESTICATION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NONHUMAN; PHENOTYPE; POPULATION GENETIC STRUCTURE; PRIORITY JOURNAL; RETROPOSON; REVIEW; SHORT INTERSPERSED REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ANIMALS; DISEASE MODELS, ANIMAL; DOG DISEASES; DOGS; GENOME; HUMANS;

CANIS FAMILIARIS;

EID: 78149417257     PISSN: 00664197     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev-genet-102808-115200     Document Type: Review

References (168)

1. Acland GM, Ray K, Mellersh CS, Gu W, Langston AA, et al. 1998. 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 96:3048-53
2. Agnarsson I, Kuntner M, May-Collado LJ. 2009. Dogs, cats, and kin: a molecular species-level phylogeny of Carnivora. Mol. Phylogenet. Evol. 54:726-45
3. Akey JM, Ruhe AL, Akey DT, Wong AK, Connelly CF, et al. 2010. Tracking footprints of artificial selection in the dog genome. Proc. Natl. Acad. Sci. USA 107:1160-65
4. American Kennel Club. 1999. Breed Registry Data Base. New York: AKC
5. Anderson TM, vonHoldt BM, Candille SI, Musiani M, Greco C, et al. 2009. Molecular and evolutionary history of melanism in North American gray wolves. Science 323:1339-43
6. Andl T, Reddy ST, Gaddapara T, Millar SE. 2002. WNT signals are required for the initiation of hair follicle development. Dev. Cell 2:643-53
7. Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, et al. 2009. Genome-wide association analysis reveals aSOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc. Natl. Acad. Sci. USA 106:2794-99
8. Badino P, Odore R, Osella MC, Bergamasco L, Francone P, et al. 2004. Modifications of serotonergic and adrenergic receptor concentrations in the brain of aggressive Canis familiaris. Comp. Biochem. Physiol. A Mol. Integr. Physiol. 139:343-50
9. Baldeschi C, Gache Y, Rattenholl A, Bouille P, Danos O, et al. 2003. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum. Mol. Genet. 12:1897-905
10. Benson KF, Li FQ, Person RE, Albani D, Duan Z, et al. 2003. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat. Genet. 35:90-96
11. Berryere TG, Kerns JA, Barsh GS, Schmutz SM. 2005. Association of an Agouti allele with fawn or sable coat color in domestic dogs. Mamm. Genome 16:262-72
12. Bjornerfeldt S, Hailer F, Nord M, Vila C. 2008. Assortative mating and fragmentation within dog breeds. BMC Evol. Biol. 8:28
13. Bjornerfeldt S, Webster MT, Vila C. 2006. Relaxation of selective constraint on dog mitochondrial DNA following domestication. Genome Res. 16:990-94
14. Blackshaw JK, Sutton RH, Boyhan MA. 1994. Tail chasing or circling behavior in dogs. Canine Practice 19:7-11
15. Boudreaux MK, Catalfamo JL. 2001. Molecular and genetic basis for thrombasthenic thrombopathia in otterhounds. Am. J. Vet. Res. 62:1797-804
16. Boyko A, Quignon P, Lin L, Schoenebeck J, Degenhardt JD, et al. 2010. A simple genetic architecture underlies quantitative traits in dogs. PLoS Biol. In press
17. Boyko AR, Boyko RH, Boyko CM, Parker HG, Castelhano M, et al. 2009. Complex population structure in African village dogs and its implications for inferring dog domestication history. Proc. Natl. Acad. Sci. USA 106:13903-8
18. Bradshaw JW, Goodwin D. 1999. Determination of behavioural traits of pure-bred dogs using factor analysis and cluster analysis; a comparison of studies in the USA and UK. Res. Vet. Sci. 66:73-76
19. Breen M, Modiano JF. 2008. Evolutionarily conserved cytogenetic changes in hematological malignancies of dogs and humans: man and his best friend share more than companionship. Chromosome Res. 16:145-54
20. Cadieu E, Neff M, Quignon P, Walsh K, Chase K, et al. 2009. Coat variation in the domestic dog is governed by variants in three genes. Science 326:150-53
21. Candille SI, Kaelin CB, Cattanach BM, Yu B, Thompson DA, et al. 2007. A β-defensin mutation causes black coat color in domestic dogs. Science 318:1418-23
22. 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. 124:530-35
23. Casal ML, Scheidt JL, Rhodes JL, Henthorn PS, Werner P. 2005. Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm. Genome 16:524-31
24. Catchpole B, Kennedy LJ, Davison LJ, Ollier WE. 2008. Canine diabetes mellitus: from phenotype to genotype. J. Small Anim. Pract. 49:4-10
25. Chabas D, Taheri S, Renier C, Mignot E. 2003. The genetics of narcolepsy. Annu. Rev. Genomics Hum. Genet. 4:459-83
26. Chan EF, Gat U, McNiff JM, Fuchs E. 1999. A common human skin tumour is caused by activating mutations in beta-catenin. Nat. Genet. 21:410-13
27. Chase K, Carrier DR, Adler FR, Jarvik T, Ostrander EA, et al. 2002. Genetic basis for systems of skeletal quantitative traits: principal component analysis of the canid skeleton. Proc. Natl. Acad. Sci. USA 99:9930-35
28. Chase K, Sargan D, Miller K, Ostrander EA, Lark KG. 2006. Understanding the genetics of autoimmune disease: two loci that regulate late onset Addison's disease in Portuguese Water Dogs. Int. J. Immunogenet. 33:179-84
29. Chen WK, Swartz JD, Rush LJ, Alvarez CE. 2009. Mapping DNA structural variation in dogs. Genome Res. 19:500-9
30. Chen X, Johnson GS, Schnabel RD, Taylor JF, Johnson GC, et al. 2008. A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics 9:41-49
31. 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. Sci. USA 103:1376-81
32. Clevers H. 2006. Wnt/beta-catenin signaling in development and disease. Cell 127:469-80
33. Cruz F, Vila C, Webster MT. 2008. The legacy of domestication: accumulation of deleterious mutations in the dog genome. Mol. Biol. Evol. 25:2331-36
34. de Bie P, van de Sluis B, Klomp L, Wijmenga C. 2005. The many faces of the copper metabolism protein MURR1/COMMD1. J. Hered. 96:803-11
35. Derrien T, Theze J, Vaysse A, Andre C, Ostrander EA, et al. 2009. Revisiting the missing protein-coding gene catalog of the domestic dog. BMC Genomics 10:62
36. Dodman NH, Karlsson EK, Moon-Fanelli A, Galdzicka M, Perloski M, et al. 2010. A canine chromosome 7 locus confers compulsive disorder susceptibility. Mol. Psychiatry 15:8-10
37. Drogemuller C, Karlsson EK, Hytonen MK, Perloski M, Dolf G, et al. 2008. A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science 321:1462
38. Drogemuller C, Philipp U, Haase B, Gunzel-Apel AR, Leeb T. 2007. A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs. J. Hered. 98:468-73
39. Eizirik E, Murphy WJ, Koepfli KP, Johnson WE, Dragoo JW, et al. 2010. Pattern and timing of diversification of the mammalian order Carnivora inferred from multiple nuclear gene sequences. Mol. Phylogenet. Evol. 56(1):49-63
40. Engenvall A, Bonnett BN, Ohagen P, Olson P, Hedhammer A, von Euler H. 2005. Incidence of and survival after mammary tumors in a population of over 80,000 insured female dogs in Sweden from 1995 to 2002. Prev. Vet. Med. 69:109-27
41. 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 86:10095-99
42. Everts RE, Rothuizen J, van Oost BA. 2000. Identification of a premature stop codon in the melanocyte-stimulating hormone receptor gene (MC1R) in labrador and golden retrievers with yellow coat colour. Anim. Genet. 31:194-99
43. Fondon JW 3rd, Garner HR. 2004. Molecular origins of rapid and continuous morphological evolution. Proc. Natl. Acad. Sci. USA 101:18058-63
44. Forman OP, Boursnell ME, Dunmore BJ, Stendall N, Van Den Sluis B, et al. 2005. Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers. Anim. Genet. 36:497-501
45. Galibert F, Andre C. 2002. The canine genome: alternative model for the functional analysis of mammalian genes. Bull. Acad. Natl. Med. 186:1489-99; discussion 99-502
46. Garcia M. 2005. Ichnologie generale de la grotte chauvet. Bull. Soc. Prehistoique Fr. 102:102-8
47. Germonpre M, Sablin MV, Stevens RE, Hedges REM, Hofreiter M, et al. 2009. Fossil dogs and wolves from Palaeolithic sites in Belgium, the Ukraine and Russia: osteometry, ancient DNA and stable isotopes. J. Archaeol. Sci. 36:473-90
48. Glickman LT, Raghavan M, Knapp DW, Bonney PL, Dawson MH. 2004. Herbicide exposure and the risk of transitional cell carcinoma of the urinary bladder in Scottish Terriers. J. Am. Vet. Med. Assoc. 224:1290-97
49. Goldstein O, Zangerl B, Pearce-Kelling S, Sidjanin DJ, Kijas JW, et al. 2006. Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics 88:541-50
50. Gray MM, Granka JM, Bustamante CD, Sutter NB, Boyko AR, et al. 2009. Linkage disequilibrium and demographic history of wild and domestic canids. Genetics 181:1493-505
51. Gray MM, Sutter NB, Ostrander EA, Wayne RK. 2010. The IGF1 small dog haplotype is derived from Middle Eastern gray wolves. BMC Biol. 8:16
52. Hare B, Brown M, Williamson C, Tomasello M. 2002. The domestication of social cognition in dogs. Science 298:1634-36
53. Hart BL, Hart L. 2005. Breed-specific profiles of canine (Canis familiaris) behavior. In Current Issues and Research in Veterinary Behavioral Medicine, ed. D Mills, E Levine, G Landsberg, D Horwitz, M Duxbury, et al., pp. 107-12. West Lafayette, IN: Purdue University Press
54. Hart BL, Miller MF. 1985. Behavioral profiles of dog breeds. J. Am. Vet. Med. Assoc. 186:1175-80
55. He Q, Fyfe JC, Schaffer AA, Kilkenney A, Werner P, et al. 2003. Canine Imerslund-Grasbeck syndrome maps to a region orthologous to HSA14q. Mamm. Genome 14:758-64
56. He Q, Madsen M, Kilkenney A, Gregory B, Christensen EI, et al. 2005. Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. Blood 106:1447-53
57. Hejjas K, Kubinyi E, Ronai Z, Szekely A, Vas J, et al. 2009. Molecular and behavioral analysis of the intron 2 repeat polymorphism in the canine dopamine D4 receptor gene. Genes Brain Behav. 8:330-36
58. Hejjas K, Vas J, Kubinyi E, Sasvari-Szekely M, Miklosi A, Ronai Z. 2007. Novel repeat polymorphisms of the dopaminergic neurotransmitter genes among dogs and wolves. Mamm. Genome 18:871-79
59. Hejjas K, Vas J, Topal J, Szantai E, Ronai Z, et al. 2007. Association of polymorphisms in the dopamine D4 receptor gene and the activity-impulsivity endophenotype in dogs. Anim. Genet. 38:629-33
60. Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, et al. 2000. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Hum. Genet. 107:295-303
61. 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
62. Hillbertz NH, Andersson G. 2006. Autosomal dominant mutation causing the dorsal ridge predisposes for dermoid sinus in Rhodesian ridgeback dogs. J. Small Anim. Pract. 47:184-88
63. Hitte C, Madeoy J, Kirkness EF, Priat C, Lorentzen TD, et al. 2005. Facilitating genome navigation: survey sequencing and dense radiation-hybrid gene mapping. Nat. Rev. Genet. 6:643-48
64. Hoffman EP, Brown RH Jr, Kunkel LM. 1987. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919-28
65. Housley DJ, Venta PJ. 2006. The long and the short of it: evidence that FGF5 is a major determinant of canine "hair"-itability. Anim. Genet. 37:309-15
66. Howell JM, Fletcher S, Kakulas BA, O'Hara M, Lochmuller H, Karpati G. 1997. Use of the dog model for Duchenne muscular dystrophy in gene therapy trials. Neuromuscul. Disord. 7:325-28
67. Hungs M, Fan J, Lin L, Lin X, Maki RA, Mignot E. 2001. Identification and functional analysis of mutations in the hypocretin (orexin) genes of narcoleptic canines. Genome Res. 11:531-39
68. Huson HJ, Parker HG, Runstadler J, Ostrander EA. 2010. A genetic dissection of breed composition and performance enhancement in the Alaskan sled dog. BMC Genetics 11:62
69. Jackson IJ. 1994. Molecular and developmental genetics of mouse coat color. Annu. Rev. Genet. 28:189-217
70. John J, Wu MF, Maidment NT, Lam HA, Boehmer LN, et al. 2004. Developmental changes in CSF hypocretin-1 (orexin-A) levels in normal and genetically narcoleptic doberman pinschers. J. Physiol. 560:587-92
71. Jones P, Chase K, Martin A, Ostrander EA, Lark KG. 2008. Single-nucleotide-polymorphism-based association mapping of dog stereotypes. Genetics 179:1033-44
72. Kanetsky PA, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck TR. 2002. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am. J. Hum. Genet. 70:770-75
73. Karlsson EK, Baranowska I, Wade CM, Salmon Hillbertz NH, Zody MC, et al. 2007. Efficient mapping of mendelian traits in dogs through genome-wide association. Nat. Genet. 39:1321-28
74. 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. 327:541-47
75. Kazanskaya O, Glinka A, del Barco Barrantes I, Stannek P, Niehrs C, Wu W. 2004. R-Spondin2 is a secreted activator of Wnt/beta-catenin signaling and is required for xenopus myogenesis. Dev. Cell 7:525-34
76. Kerns J, Cargill E, Clark LA, Candille S, Berryere T, et al. 2007. Linkage and segregation analysis of black and brindle coat color in domestic dogs. Genetics 176:1679-89
77. Kerns JA, Newton J, Berryere TG, Rubin EM, Cheng JF, et al. 2004. Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs. Mamm. Genome 15:798-808
78. Kerns JA, Olivier M, Lust G, Barsh GS. 2003. Exclusion of melanocortin-1 receptor (mc1r) and agouti as candidates for dominant black in dogs. J. Hered. 94:75-79
79. Kijas J, Cideciyan A, Aleman T, Pianta M, Pearce-Kelling S, et al. 2002. Naturally-occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 99:6328-33
80. Kijas JM, Bauer TR Jr, Gafvert S, Marklund S, Trowald-Wigh G, et al. 1999. A missense mutation in the beta-2 integrin gene (ITGB2) causes canine leukocyte adhesion deficiency. Genomics 61:101-7
81. Kirkness EF. 2005. SINEs of canine genomic diversity. In The Dog and Its Genome, ed. EA Ostrander, U Giger, K Lindblad-Toh, pp. 209-19. Cold Spring Harbor, NY: Cold Spring Harbor Press
82. Kirkness EF, Bafna V, Halpern AL, Levy S, Remington K, et al. 2003. The dog genome: survey sequencing and comparative analysis. Science 301:1898-903
83. Kramer JW, Venta PJ, Klein SR, Cao Y, Schall WD, Yuzbasiyan-Gurkan 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. 41:221-28
84. Kukekova AV, Goldstein O, Johnson JL, Richardson MA, Pearce-Kelling SE, et al. 2009. Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm. Genome 20:109-23
85. Laidlaw J, Gelfand Y, Ng KW, Garner HR, Ranganathan R, et al. 2007. Elevated basal slippage mutation rates among the Canidae. J. Hered. 98:452-60
86. Leonard JA, Wayne RK, Wheeler J, Valadez R, Guillen S, Vila C. 2002. Ancient DNA evidence for Old World origin of New World dogs. Science 298:1613-16
87. Lin L, Faraco J, Li R, Kadotani H, Rogers W, et al. 1999. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 98:365-76
88. Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, et al. 2005. Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 438:803-19
89. Lingaas F, Aarskaug T, Sletten M, Bjerkas I, Grimholt U, et al. 1998. Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs. Anim. Genet. 29:371-76
90. Lingaas F, Comstock KE, Kirkness EF, Sorensen A, Aarskaug T, et al. 2003. A mutation in the canine BHD geneisassociated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum. Mol. Genet. 12:3043-53
91. Lipscomb DL, Bourne C, Boudreaux MK. 2000. Two genetic defects in alphaIIb are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: a 14-base insertion in exon 13 and a splicing defect of intron 13. Vet. Pathol. 37:581-88
92. Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, et al. 2005. Expanded repeat in canine epilepsy. Science 307:81
93. Lowe JK, Kukekova AV, Kirkness EF, Langlois MC, Aguirre GD, et al. 2003. Linkage mapping of the primary disease locus for Collie eye anomaly. Genomics 82:86-95
94. Lozier JN, Dutra A, Pak E, Zhou N, Zheng Z, et al. 2002. The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion. Proc. Natl. Acad. Sci. USA 99:12991-96
95. Malmstrom H, Vila C, Gilbert MT, Stora J, Willerslev E, et al. 2008. Barking up the wrong tree: modern northern European dogs fail to explain their origin. BMC Evol. Biol. 8:71
96. Mamedov IZ, Arzumanyan ES, Amosova AL, Lebedev YB, Sverdlov ED. 2005. Whole-genome experimental identification of insertion/deletion polymorphisms of interspersed repeats by a new general approach. Nucleic Acids Res. 33:e16
97. Mealey KL, Bentjen SA, Gay JM, Cantor GH. 2001. Ivermectin sensitivity in collies is associated with a deletion mutation of the mdr1 gene. Pharmacogenetics 11:727-33
98. Mellersh CS, Graves KT, McLaughlin B, Ennis RB, Pettitt L, et al. 2007. Mutation in HSF4 associated with early but not late-onset hereditary cataract in the Boston Terrier. J. Hered. 98:531-33
99. 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. 9:369-78
100. Meuten DJ, ed. 2002. Tumors in Domestic Animals. Ames, Iowa: Blackwell Publ. 788 pp.
101. Minnick MF, Stillwell LC, Heineman JM, Stiegler GL. 1992. A highly repetitive DNA sequence possibly unique to canids. Gene 110:235-38
102. Moon-Fanelli AA, Dodman NH. 1998. Description and development of compulsive tail chasing in terriers and response to clomipramine treatment. J. Am. Vet. Med. Assoc. 212:1252-57
103. Mosher DS, Quignon P, Bustamante CD, Sutter NB, Parker HG, et al. 2007. A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS Genet. 3:e79
104. Mueller F, Fuchs B, Kaser-Hotz B. 2007. Comparative biology of human and canine osteosarcoma. Anticancer Res. 27:155-64
105. Nadon NL, Duncan ID, Hudson LD. 1990. A point mutation in the proteolipid protein gene of the "shaking pup" interrupts oligodendrocyte development. Development 110:529-37
106. Newton JM, Wilkie AL, He L, Jordan SA, Metallinos DL, et al. 2000. Melanocortin 1 receptor variation in the domestic dog. Mamm. Genome 11:24-30
107. Nicholas TJ, Cheng Z, Ventura M, Mealey K, Eichler EE, Akey JM. 2009. The genomic architecture of segmental duplications and associated copy number variants in dogs. Genome Res. 19:491-99
108. Niimi Y, Inoue-Murayama M, Murayama Y, Ito S, Iwasaki T. 1999. Allelic variation of the D4 dopamine receptor polymorphic region in two dog breeds, golden retriever and shiba. J. Vet. Med. Sci. 61:1281-86
109. Ostrander EA, Giniger E. 1997. Semper fidelis: what man's best friend can teach us about human biology and disease. Am. J. Hum. Genet. 61:475-80
110. Ostrander EA, Kruglyak L. 2000. Unleashing the canine genome. Genome Res. 10:1271-74
111. Ostrander EA, Lindblad-Toh K, Giger U. 2006. The Dog and Its Genome. Cold Spring Harbor: Cold Spring Harbor Press. 584 pp.
112. Ostrander EA, Wayne RK. 2005. The canine genome. Genome Res. 15:1706-16
113. Overall KL. 2000. Natural animal models of human psychiatric conditions: assessment of mechanism and validity. Prog. Neuropsychopharmacol. Biol. Psychiatry 24:727-76
114. Pang JF, Kluetsch C, Zou XJ, Zhang AB, Luo LY, et al. 2009. mtDNA data indicate a single origin for dogs south of Yangtze River, less than 16,300 years ago, from numerous wolves. Mol. Biol. Evol. 26:2849-64
115. Paoloni MC, Khanna C. 2007. Comparative oncology today. Vet. Clin. North Am. Small Anim. Pract. 37:1023-32; v
116. Parker HG, Kim LV, Sutter NB, Carlson S, Lorentzen TD, et al. 2004. Genetic structure of the purebred domestic dog. Science 304:1160-64
117. Parker HG, Kukekova AV, Akey DT, Goldstein O, Kirkness EF, et al. 2007. Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Res. 17:1562-71
118. Parker HG, VonHoldt BM, Quignon P, Margulies EH, Shao S, et al. 2009. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science 325:995-98
119. Patterson D. 2000. Companion animal medicine in the age of medical genetics. J. Vet. Internal. Med. 14:1-9
120. Patterson EE, Minor KM, Tchernatynskaia AV, Taylor SM, Shelton GD, et al. 2008. A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nat. Genet. 40:1235-39
121. 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. 14:1417-27
122. Petersen-Jones SM. 1998. A review of research to elucidate the causes of the generalized progressive retinal atrophies [see comments]. Vet. J. 155:5-18
123. Petersen-Jones SM, Entz DD, Sargan DR. 1999. cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest. Ophthalmol. Vis. Sci. 40:1637-44
124. Philipp U, Hamann H, Mecklenburg L, Nishino S, Mignot E, et al. 2005. Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs. BMC Genet. 6:34
125. Podberscek AL, Serpell JA. 1997. Aggressive behaviour in English cocker spaniels and the personality of their owners. Vet. Rec. 141:73-76
126. Quignon P, Herbin L, Cadieu E, Kirkness EF, Hedan B, et al. 2007. Canine population structure: assessment and impact of intra-breed stratification on SNP-based association studies. PLoS ONE 2:e1324
127. Reisner IR, Houpt KA, Shofer FS. 2005. National survey of owner-directed aggression in English springer spaniels. J. Am. Vet. Med. Assoc. 227:1594-603
128. Reisner IR, Mann JJ, Stanley M, Huang YY, Houpt KA. 1996. Comparison of cerebrospinal fluid monoamine metabolite levels in dominant-aggressive and non-aggressive dogs. Brain Res. 714:57-64
129. Rivera P, Melin M, Biagi T, Fall T, Haggstrom J, et al. 2009. Mammary tumor development in dogs is associated with BRCA1 and BRCA2. Cancer Res. 69:8770-74
130. Runkel F, Klaften M, Koch K, Bohnert V, Bussow H, et al. 2006. Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71rco12 and Krt71rco13. Mamm. Genome 17:1172-82
131. Sablin MV, Khlopachev GA. 2002. The earliest ice age dogs: evidence from eliseevichi 1. Curr. Anthropol. 43:795-98
132. Saetre P, Strandberg E, Sundgren PE, Pettersson U, Jazin E, Bergstrom TF. 2006. The genetic contribution to canine personality. Genes Brain Behav. 5:240-48
133. Salmon Hillbertz NHC, Isaksson M, Karlsson EK, Hellmen E, Pielberg GR, et al. 2007. Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nat. Genet. 39:1318-20
134. Savolainen P, Zhang YP, Luo J, Lundeberg J, Leitner T. 2002. Genetic evidence for an East Asian origin of domestic dogs. Science 298:1610-13
135. Schmutz SM, Berryere TG, Ellinwood NM, Kerns JA, Barsh GS. 2003. MC1R studies in dogs with melanistic mask or brindle patterns. J. Hered. 94:69-73
136. Schmutz SM, Berryere TG, Goldfinch AD. 2002. TYRP1 and MC1R genotypes and their effects on coat color in dogs. Mamm. Genome 13:380-87
137. Sharp NJ, Kornegay JN, Van Camp SD, Herbstreith MH, Secore SL, et al. 1992. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics 13:115-21
138. Shearin AL, Ostrander EA. 2010. Leading the way: canine models of genomics and disease. Dis. Model Mech. 3:27-34
139. Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, et al. 2002. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum. Mol. Genet. 11:1823-33
140. Singh S, Ganesh S. 2009. Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Hum. Mutat. 30:715-23
141. Suber ML, Pittler SJ, Qin N, Wright GC, Holcombe V, et al. 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 90:3968-72
142. Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, et al. 2007. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 39:1443-52
143. Sutter NB, Bustamante CD, Chase K, Gray MM, Zhao K, et al. 2007. A single IGF1 allele is a major determinant of small size in dogs. Science 316:112-15
144. Sutter NB, Eberle MA, Parker HG, Pullar BJ, Kirkness EF, et al. 2004. Extensive and breed-specific linkage disequilibrium in Canis familiaris. Genome Res. 14:2388-96
145. Takeuchi Y, Kaneko F, Hashizume C, Masuda K, Ogata N, et al. 2009. Association analysis between canine behavioural traits and genetic polymorphisms in the Shiba Inu breed. Anim. Genet. 40:616-22
146. Takeuchi Y, Mori Y. 2006. A comparison of the behavioral profiles of purebred dogs in Japan to profiles of those in the United States and the United Kingdom. J. Vet. Med. Sci./Japanese Soc. Vet. Sci. 68:789-96
147. Tchernov E, Valla FF. 1996. Two new dogs, and other Natufian dogs, from the Southern Levant. J. Archaeol. Sci. 24:65-95
148. Tiret L, Blot S, Kessler JL, Gaillot H, Breen M, Panthier JJ. 2003. The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. Hum. Genet. 113:297-306
149. Vage J, Wade C, Biagi T, Fatjo J, Amat M, et al. 2010. Association of dopamine-and serotonin-related genes with canine aggression. Genes Brain Behav. 9(4):372-78
150. Valverde P, Healy E, Jackson I, Rees JL, Thody AJ. 1995. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat. Genet. 11:328-30
151. Van De Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C. 2002. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum. Mol. Genet. 11:165-73
152. Van Den Berg L, Vos-Loohuis M, Schilder MB, van Oost BA, Hazewinkel HA, et al. 2008. Evaluation of the serotonergic genes htr1A, htr1B, htr2A, and slc6A4 in aggressive behavior of golden retriever dogs. Behav. Genet. 38:55-66
153. 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
154. VerginelliF,CapelliC,CoiaV,MusianiM,FalchettiM,etal. 2005.Mitochondrial DNA from prehistoric canids highlights relationships between dogs and Southeast European wolves. Mol. Biol. Evol. 22:2541-51
155. Veske A, Nilsson SE, Narfstrom K, Gal A. 1999. Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics 57:57-61
156. Vila C, Savolainen P, Maldonado JE, Amorim IR, Rice JE, et al. 1997. Multiple and ancient origins of the domestic dog. Science 276:1687-89
157. Vila C, Seddon J, Ellegren H. 2005. Genes of domestic mammals augmented by backcrossing with wild ancestors. Trends Genet. 21:214-18
158. Vonholdt BM, Pollinger JP, Lohmueller KE, Han E, Parker HG, et al. 2010. Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication. Nature 464:898-902
159. Walmsley GL, Arechavala-Gomeza V, Fernandez-Fuente M, Burke MM, Nagel N, et al. 2010. A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. PLoS One 5:e8647
160. Wang Z, Chamberlain JS, Tapscott SJ, Storb R. 2009. Gene therapy in large animal models of muscular dystrophy. ILAR J. 50:187-98
161. Wayne RK, Ostrander EA. 2007. Lessons learned from the dog genome. Trends Genet. 23:557-67
162. Wiik AC, Wade C, Biagi T, Ropstad EO, Bjerkas E, et al. 2008. A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. Genome Res. 18:1415-21
163. Wilbe M, Jokinen P, Hermanrud C, Kennedy LJ, Strandberg E, et al. 2009. MHC class II polymorphism is associated with a canine SLE-related disease complex. Immunogenetics 61:557-64
164. Yuzbasiyan-Gurkan V, Blanton SH, Cao V, Ferguson P, Li J, et al. 1997. Linkage of a microsatellite marker to the canine copper toxicosis locus in Bedlington terriers. Am. J. Vet. Res. 58:23-27
165. Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, et al. 2006. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 26:26
166. Zanna G, Fondevila D, Bardagi M, Docampo MJ, Bassols A, Ferrer L. 2008. Cutaneous mucinosis in shar-pei dogs is due to hyaluronic acid deposition and is associated with high levels of hyaluronic acid in serum. Vet. Dermatol. 19:314-18
167. Zhang F, Gu W, Hurles ME, Lupski JR. 2009. Copy number variation in human health, disease, and evolution. Annu. Rev. Genomics Hum. Genet. 10:451-81
168. 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 91:3989-93