Advertisement

Canine Genetics Facilitates Understanding of Human Biology

  • Elaine A. Ostrander
  • Heidi G. Parker
  • Nathan B. Sutter
Part of the Stadler Genetics Symposia Series book series (SGSS)

Abstract

In the past 15 years the field of canine genetics has advanced dramatically. Dense comparative maps, production of × 1.5 and × 7.5 genome sequences, SNP chips, and a growing sophistication regarding how to tackle problems in complex genetics have all propelled the canine system from a backwater to the forefront of the genomics landscape. In this chapter, we explore some of the critical advances in the field that have occurred in the past 5 years. We discuss the implications of each on disease gene mapping. Complex trait genetics and advances related to finding genes associated with morphology are also discussed. Finally, we speculate on what advances will likely define the field in the coming 5 years.

Keywords

Retinitis Pigmentosa National Human Genome Research Institute Lafora Disease Copper Toxicosis Progressive Retinal Atrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Acland, G.M., Blanton, S.H., Hershfield, B., and Aguiree, G.D., 1994, XLPRA: a canine retinal degeneration inherited as an X-linked trait, Am. J. Med. Genet. 52:27–33.PubMedCrossRefGoogle Scholar
  2. Acland, G.M., Ray, K., Mellersh, C.S., Gu, W., Langston, A.A., Rine, J., Ostrander, E.A., and Aguirre, G.D., 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 95:3048–3053.PubMedCrossRefGoogle Scholar
  3. Acland, G.M., Ray, K., Mellersh, C.S., Gu, W., Langston, A.A., Rine, J., Ostrander, E.A., and Aguirre, G.D., 1999, A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration, Genomics 59:134–142.PubMedCrossRefGoogle Scholar
  4. Aguirre, G., Lolley, R., Farber, D., Fletcher, T., and Chader, G., 1978, Rod-cone dysplasia in Irish Setter dogs: a defect in cyclic GMP metabolism in visual cells, Science 201:1133.CrossRefGoogle Scholar
  5. Aguirre, G.D., and Acland, G.M., 1988, Variation in retinal degeneration phenotype inherited at the prcd locus, Exp. Eye Res. 46:663–687.PubMedCrossRefGoogle Scholar
  6. Aguirre, G.D., Baldwin, V., Pearce-Kelling, S., Narfstrom ,K., Ray, K., and Acland, G.M., 1998, Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol. Vis. 4:23.PubMedGoogle Scholar
  7. American Kennel Club, 1998, The Complete Dog Book, Howell Book House, New York, NY.Google Scholar
  8. American Veterinary Medical Association, 2002, U.S. Pet Onwership and Demographics Sourcebook, pp. 1–136, American Veterinary Medical Association, Schauburg.Google Scholar
  9. Bentolila, S., Bach, J.M., Kessler, J.L., Bordelais, I., Cruaud, C., Weissenbach, J., and Panthier, J.J., 1999, Analysis of major repetitive DNA sequences in the dog (Canis familiaris) genome, Mamm. Genome 10:699–705.PubMedCrossRefGoogle Scholar
  10. Chase, K., Adler, F.R., Miller-Stebbings, K., and Lark, K.G., 1999, Teaching a new dog old tricks: identifying quantitative trait loci using lessons from plants, J. Hered. 90:43–51.PubMedCrossRefGoogle Scholar
  11. Chase, K., Carrier, D.F., Adler, F.R., Ostrander, E.A., and Lark, K.G., 2005a, Size sexual dimorphism in Portugese Water Dogs: interaction between an autosome and the X chromosome, Genome Res. 15:1820–1824.CrossRefGoogle Scholar
  12. Chase, K., Carrier, D.R., Adler, F.R., Jarvik, T., Ostrander, E.A., Lorentzen, T. D., and Lark, K.G., 2002, Genetic basis for systems of skeletal quantitative traits: principal component analysis of the canid skeleton, Proc. Natl. Acad. Sci. USA 99:9930–9935.PubMedCrossRefGoogle Scholar
  13. Chase, K., Lawler, D.F., Adler, F.R., Ostrander, E.A., and Lark, K.G., 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.CrossRefGoogle Scholar
  14. Chase, K., Lawler, D.F., Carrier, D.R., and Lark, K.G., 2005b, Genetic regulation of osteoarthritis: a QTL regulating cranial and caudal acetabular osteophyte formation in the hip joint of the dog (Canis familiaris), Am. J. Hum. Genet. 135:334–335.Google Scholar
  15. Chase, K., Sargan, D., Miller, K., Ostrander, E.A., and Lark, K.G., 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.PubMedCrossRefGoogle Scholar
  16. Clark, L.A., Wahl, J.M., Rees, C.A., and Murphy, K.E., 2006, Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog, Proc. Natl. Acad. Sci. USA 103:1376–1381.PubMedCrossRefGoogle Scholar
  17. Clark, L.A., Wahl, J.M., Steiner, J.M., Zhou, W., Ji, W., Famula, T.R., Williams, D.A., and Murphy, K.E., 2005, Linkage analysis and gene expression profile of pancreatic acinar atrophy in the German Shepherd Dog, Mamm. Genome 16:955–962.PubMedCrossRefGoogle Scholar
  18. Coltman, D.W., and Wright, J.M., 1994, Can SINEs: a family of tRNA-derived retroposons specific to the superfamily Canoidea, Nucleic Acids Res. 22:2726–2730.PubMedCrossRefGoogle Scholar
  19. Goldstein, O., Zangerl, B., Pearce-Kelling, S., Sidjanin, D.J., Kijas, J.W., Felix, J., Acland, G.M., and Aguirre, G.D., 2006, Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome, Genomics 88:551–563.PubMedCrossRefGoogle Scholar
  20. Hitte, C., Madeoy, J., Kirkness, E.F., Priat, C., Lorentzen, T.D., et al., 2005, Facilitating genome navigation: survey sequencing and dense radiation-hybrid gene mapping, Nat. Rev. Genet. 6:643–8.PubMedCrossRefGoogle Scholar
  21. Jonasdottir, T.J., Mellersh, C.S., Moe, L., Heggebo, R., Gamlem, H., Ostrander, E.A., and Lingaas, F., 2000, Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs, Proc. Natl. Acad. Sci. USA 97:4132–4137.PubMedCrossRefGoogle Scholar
  22. Kirkness, E.F., Bafna, V., Halpern, A.L., Levy, S., Remington, K., Rusch, D.B., Delcher, A.L., Pop, M., Wang, W., Fraser, C.M., and Venter, J.C., 2003, The dog genome: survey sequencing and comparative analysis, Science 301:1898–1903.PubMedCrossRefGoogle Scholar
  23. Koskinen, M.T., 2003, Individual assignment using microsatellite DNA reveals unambiguous breed identification in the domestic dog, Anim. Genet. 34:297–301.PubMedCrossRefGoogle Scholar
  24. Koskinen, M.T., and Bredbacka, P., 2000, Assessment of the population structure of five Finnish dog breeds with microsatellites, Anim. Genet. 31:310–317.PubMedCrossRefGoogle Scholar
  25. Kruglyak, L., 1999, Prospects for whole-genome linkage disequilibrium mapping of common disease genes, Nat. Genet. 22:139–144.PubMedCrossRefGoogle Scholar
  26. Kukekova, A.V., Nelson, J., Kuchtey, R.W., Lowe, J.K., Johnson, J.L., Ostrander, E.A., Aguirre, G.D., and Acland, G.M., 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.PubMedCrossRefGoogle Scholar
  27. Lin, L., Faraco, J., Li R., Kadotani, H., Rogers, W., Lin, X., Qiu, X., Jong, P.J., Nishino, S., and Mignot, E., 1999, The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene, Cell 98:365–376.PubMedCrossRefGoogle Scholar
  28. Lindblad-Toh, K., Wade, C.M., Mikkelsen, T.S., Karlsson, E.K., Jaffe, D.B., et al., 2005, Genome sequence, comparative analysis and haplotype structure of the domestic dog, Nature 438:803–819.PubMedCrossRefGoogle Scholar
  29. Lingaas, F., Aarskaug, T., Sletten, M., Bjerkas, I., Grimholt, U., Moe, L., Juneja, R.K., Wilton, A.N., Galibert, F., Holmes, N.G., and Dolf, G., 1998, Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs, Anim. Genet. 29:371–376.PubMedCrossRefGoogle Scholar
  30. Lingaas, F., Comstock, K.E., Kirkness, E.F., Sorensen, A., Aarskaug, T., Hitte, C., Nickerson, M.L., Moe, L., Schmidt, L.S., Thomas, R., Breen, M., Galibert, F., Zbar, B., and Ostrander, E.A., 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.PubMedCrossRefGoogle Scholar
  31. Lohi, H., Young, E.J., Fitzmaurice, S.N., Rusbridge, C., Chan, E.M., Vervoort, M., Turnbull, J., Zhao, X.C., Ianzano, L., Paterson, A.D., Sutter, N.B., Ostrander, E.A., Andre, C., Shelton, G.D., Ackerley, C.A., Scherer, S.W., and Minassian, B.A., 2005, Expanded repeat in canine epilepsy, Science 307:81.PubMedCrossRefGoogle Scholar
  32. Lowe, J.K., Kukekova, A.V., Kirkness, E.F., Langlois, M.C., Aguirre, G.D., Acland, G.M., and Ostrander, E.A., 2003, Linkage mapping of the primary disease locus for collie eye anomaly, Genomics 82:86–95.PubMedCrossRefGoogle Scholar
  33. Mignot, E., Wang, C., Rattazzi, C., Gaiser, C., Lovett, M., Guilleminault, C., Dement, W.C., and Grumet, F.C., 1991, Genetic linkage of autosomal recessive canine narcolepsy with a mu immunoglobulin heavy-chain switch-like segment, Proc. Natl. Acad. Sci. USA 88:3475–3478.PubMedCrossRefGoogle Scholar
  34. Minnick, M.F., Stillwell, L.C., Heineman, J.M., and Stiegler, G.L., 1992, A highly repetitive DNA sequence possibly unique to canids, Gene 110:235–238.PubMedCrossRefGoogle Scholar
  35. Moody, J.A., Famula, T.R., Sampson, R.C., and Murphy, K.E., 2005, Identification of microsatellite markers linked to progressive retinal atrophy in American Eskimo Dogs, Am. J. Vet. Res. 66:1900–1902.PubMedCrossRefGoogle Scholar
  36. Murphy, W.J., Larkin, D.M., Everts-van der Wind, A., Bourque, G., Tesler, G., et al., 2005, Dynamics of mammalian chromosome evolution inferred from multispecies comparative maps, Science 309:613–617.PubMedCrossRefGoogle Scholar
  37. Nickerson, M., Warren, M., Toro, J., Matrosova, V., Glenn, G., Turner, M., Duray, P., Merino, M., Choyke, P., Pavlovich, C., Sharma, N., Walther, M., Munroe, D., Hill, R., Maher, E., Greenberg, C., Lerman, M., Linehan, W., Zbar, B., and Schmidt, L., 2002, Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome, Cancer Cell 2:157.PubMedCrossRefGoogle Scholar
  38. O’Rourke, K., 2005, Mining the canine genome. Identification of genes helps breeders and researchers, J. Am. Vet. Med. Assoc. 226:863–864.PubMedGoogle Scholar
  39. Ostrander, E.A., and Kruglyak, L., 2000, Unleashing the canine genome, Genome Res. 10:1271–1274.PubMedCrossRefGoogle Scholar
  40. Ostrander, E.A., Markianos, K., and Stanford, J.L., 2004, Finding prostate cancer susceptibility genes, Annu. Rev. Genomics Hum. Genet. 5:151–175.PubMedCrossRefGoogle Scholar
  41. Ostrander, E.A., and Wayne, R.K., 2005, The canine genome, Genome Res. 15:1706–1716.PubMedCrossRefGoogle Scholar
  42. Parker, H.G., Kim, L.V., Sutter, N.B., Carlson, S., Lorentzen, T.D., Malek, T.B., Johnson, G.S., DeFrance, H.B., Ostrander, E.A., and Kruglyak, L., 2004, Genetic structure of the purebred domestic dog, Science 304:1160–1164.PubMedCrossRefGoogle Scholar
  43. Parker, H.G., and Ostrander, E.A., 2005, Canine genomics and genetics: Running with the pack, PLoS Genet. 1:e58.PubMedCrossRefGoogle Scholar
  44. Patterson, D., 2000, Companion animal medicine in the age of medical genetics, J. Vet. Internal. Med. 14:1–9.CrossRefGoogle Scholar
  45. Patterson, D.F., Haskins, M.E., and Jezyk, P.F., 1982, Models of human genetic disease in domestic animals, Adv. Hum. Genet. 12:263–339.PubMedGoogle Scholar
  46. Pele M., Tiret L., Kessler J. L., Blot S., and Panthier J. J. 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.PubMedCrossRefGoogle Scholar
  47. Petersen-Jones S. 2005. Advances in the molecular understanding of canine retinal diseases, J. Small Anim Pract. 46:371–380.PubMedCrossRefGoogle Scholar
  48. Safra N., Schaible R.H., and Bannasch D.L. 2006. Linkage analysis with an interbreed backcross maps Dalmatian hyperuricosuria to CFA03, Mamm. Genome. 17: 340–345.PubMedCrossRefGoogle Scholar
  49. Sargan D.R. 2004. IDID: inherited diseases in dogs: web-based information for canine inherited disease genetics, Mamm. Genome 15:503–506.PubMedCrossRefGoogle Scholar
  50. Savolainen, P., Zhang, Y.P., Luo, J., Lundeberg, J., and Leitner, T., 2002, Genetic evidence for an East Asian origin of domestic dogs, Science 298:1610–1613.PubMedCrossRefGoogle Scholar
  51. Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., and Ostrander, E.A. 2002, Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3, Hum. Mol. Genet. 11:1823–1833.PubMedCrossRefGoogle Scholar
  52. Sutter, N.B., Eberle, M.A., Parker, H.G., Pullar, B.J., Kirkness, E.F., Kruglyak, L., and Ostrander, E.A., 2004, Extensive and breed-specific linkage disequilibrium in Canis familiaris, Genome Res. 14:2388–2396.CrossRefGoogle Scholar
  53. Sutter, N.B., and Ostrander, E.A., 2004, Dog star rising: the canine genetic system, Nat. Rev. Genet. 5:900–910.PubMedCrossRefGoogle Scholar
  54. Switonski, M., Szczerbal, I., and Nowacka, J., 2004, The dog genome map and its use in mammalian comparative genomics, J. Appl. Genet. 45:195–214.PubMedGoogle Scholar
  55. van De Sluis, B., Rothuizen, J., Pearson, P.L., van Oost, B.A., and Wijmenga, C., 2002, Identification of a new copper metabolism gene by positional cloning in a purebred dog population, Hum. Mol. Genet. 11:165–173.CrossRefGoogle Scholar
  56. Vassetzky, N.S., and Kramerov, D.A., 2002, CAN—a pan-carnivore SINE family, Mamm. Genome 13:50–57.PubMedCrossRefGoogle Scholar
  57. Vila, C., Savolainen, P., Maldonado, J.E., Amorim, I.R., Rice, J.E., Honeycutt, R.L., Crandall, K.A., Lundeberg, J., and Wayne, R K., 1997, Multiple and ancient origins of the domestic dog, Science 276:1687–1689.PubMedCrossRefGoogle Scholar
  58. Wayne, R.K., 1986a, Cranial morphology of domestic and wild canids the influence of development on morphological change, Evolution 40:243–261.CrossRefGoogle Scholar
  59. Wayne, R.K., 1986b, Limb morphology of domestic and wild canids: the influence of development on morphologic change, J. Morphol. 187:301–319.CrossRefGoogle Scholar
  60. Wayne, R.K., Geffen, E., Girman, D.J., Koeppfli, K.P., Lau, L.M., and Marshall, C.R., 1997, Molecular systematics of the Canidae, Syst. Biol. 46:622–653.PubMedCrossRefGoogle Scholar
  61. Wayne, R.K., Nash, W.G., and O’Brien, S.J., 1987a, Chromosomal evolution of the Canidae. I. Species with high diploid numbers, Cytogenet. Cell Genet. 44:123–133.CrossRefGoogle Scholar
  62. Wayne, R.K., Nash, W.G., and O’Brien, S.J., 1987b, Chromosomal evolution of the Canidae. II. Divergence from the primitive carnivore karyotype, Cytogenet. Cell Genet. 44:134–141.Google Scholar
  63. Wilcox, B., and Walkowicz, C., 1995, “Atlas of Dog Breeds of the World,” T.F.H. Publications, Neptune City, NJ.Google Scholar
  64. Yuzbasiyan-Gurkan, V., Blanton, S.H., Cao, V., Ferguson, P., Li, J., Venta, P.J., and Brewer, G.J., 1997, Linkage of a microsatellite marker to the canine copper toxicosis locus in Bedlington terriers, Am. J. Vet. Res. 58:23–27.PubMedGoogle Scholar
  65. Zangerl ,B., Goldstein, O., Philp, A.R., Lindauer, S.J., Pearce-Kelling, S.E., Mullins, R.F., Graphodatsky, A.S., Ripoll, D., Felix, J.S., Stone, E.M., Acland, G.M., and Aguirre, G.D., 2006, Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans, Genomics 26:26.Google Scholar

Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Elaine A. Ostrander
    • 1
  • Heidi G. Parker
  • Nathan B. Sutter
  1. 1.National Human Genome Research Institute, National Institutes of HealthBethesdaUSA

Personalised recommendations