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Population Genomics of Domestication and Breed Development in Canines in the Context of Cognitive, Social, Behavioral, and Disease Traits

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Population Genomics

Part of the book series: Population Genomics ((POGE))

Abstract

Dogs are unique because they are known to be the first species domesticated by humans, have the greatest morphological variation among terrestrial mammals, and exhibit unique bonds with humans. Yet, until very recently, the history of domestication and the associated consequences of this artificial selection have been a matter of speculation. Domesticated dogs are the ideal organism to study population genomics of domestication and the impact artificial selection has had on cognitive, social, behavioral, and disease traits. Because dogs have been associated with humans for tens of thousands of years, they are uniquely suited to investigate the genetic basis of selection for dietary adaptation during the agricultural revolution. Through a variety of large-scale genomics approaches, the history and consequences of dog domestication are no longer a matter of speculation. This chapter delves into the ancient origins of human-canine interactions and follows the domestication of wolves into dogs with a particular focus on (a) the selection of phenotypes underlying the strong bond between humans and their companion dogs, (b) the morphological variation underlying dog breeds, and (c) the genetic basis of canine diseases. The historical picture that is beginning to emerge provides a genomics framework for understanding why and how the dog became “our best friend.”

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References

  • Ahonen SJ, Kaukonen M, Nussdorfer FD, Harman CD, Komaromy AM, Lohi H. A novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucoma. PLoS One. 2014;9:e111941.

    Article  Google Scholar 

  • Appleyard SM, Hayward M, Young JI, Butler AA, Cone RD, Rubinstein M, Low MJ. A role for the endogenous opioid beta-endorphin in energy homeostasis. Endocrinology. 2003;144:1753–60.

    Article  CAS  Google Scholar 

  • Arendt M, Fall T, Lindblad-Toh K, Axelsson E. Amylase activity is associated with AMY2B copy numbers in dog: implications for dog domestication, diet and diabetes. Anim Genet. 2014;45:716–22.

    Article  CAS  Google Scholar 

  • Arendt ML, Melin M, Tonomura N, Koltookian M, Courtay-Cahen C, Flindall N, Bass J, Boerkamp K, Megquir K, Youell L, Murphy S, McCarthy C, London C, Rutteman GR, Starkey M, Lindblad-Toh K. Genome-wide association study of golden retrievers identifies germ-line risk factors predisposing to mast cell tumours. PLoS Genet. 2015;11:e1005647.

    Article  Google Scholar 

  • Arendt M, Cairns KM, Ballard JW, Savolainen P, Axelsson E. Diet adaptation in dog reflects spread of prehistoric agriculture. Heredity (Edinb). 2016;117:301–6.

    Article  CAS  Google Scholar 

  • Axelsson E, Ratnakumar A, Arendt ML, Maqbool K, Webster MT, Perloski M, Liberg O, Arnemo JM, Hedhammar A, Lindblad-Toh K. The genomic signature of dog domestication reveals adaptation to a starch-rich diet. Nature. 2013;495:360–4.

    Article  CAS  Google Scholar 

  • Bannasch D, Young A, Myers J, Truvé K, Dickinson P, Gregg J, Davis R, Bongcam-Rudloff E, Webster MT, Lindblad-Toh K, Pedersen N. Localization of canine brachycephaly using an across breed mapping approach. PLoS One. 2010;5:e9632.

    Article  Google Scholar 

  • Barrientos LS, Zapata G, Crespi JA, Posik DM, Díaz S, It V, Peral-García P, Giovambattista G. A study of the association between chronic superficial keratitis and polymorphisms in the upstream regulatory regions of DLA-DRB1, DLA-DQB1 and DLA-DQA1. Vet Immunol Immunopathol. 2013;156:205–10.

    Article  CAS  Google Scholar 

  • Bauer A, Waluk DP, Galichet A, Timm K, Jagannathan V, Sayar BS, Wiener DJ, Dietschi E, Müller EJ, Roosje P, Welle MM, Leeb T. A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS Genet. 2017;13:e1006651.

    Article  Google Scholar 

  • Bence M, Marx P, Szantai E, Kubinyi E, Ronai Z, Banlaki Z. Lessons from the canine Oxtr gene: populations, variants and functional aspects. Genes Brain Behav. 2017;16:427–38.

    Article  CAS  Google Scholar 

  • Borge KS, Nord S, Van Loo P, Lingjærde OC, Gunnes G, Alnæs GI, Solvang HK, Lüders T, Kristensen VN, Børresen-Dale AL, Lingaas F. Canine mammary tumours are affected by frequent copy number aberrations, including amplification of MYC and loss of PTEN. PLoS One. 2015;10:e0126371.

    Article  Google Scholar 

  • Boyko AR, et al. A simple genetic architecture underlies morphological variation in dogs. PLoS Biol. 2010;8:e1000451.

    Article  Google Scholar 

  • Cagan A, Blass T. Identification of genomic variants putatively targeted by selection during dog domestication. BMC Evol Biol. 2016;16:10.

    Article  Google Scholar 

  • Challis BG, Pritchard LE, Creemers JW, Delplanque J, Keogh JM, Luan J, Wareham NJ, Yeo GS, Bhattacharyya S, Froguel P, White A, Farooqi IS, O’Rahilly S. A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism. Hum Mol Genet. 2002;11:1997–2004.

    Article  CAS  Google Scholar 

  • Christopherson PW, Bacek LM, King KB, Boudreaux MK. Two novel missense mutations associated with hemophilia A in a family of Boxers, and a German Shepherd dog. Vet Clin Pathol. 2014;43:312–6.

    Article  Google Scholar 

  • Cooper AE, Ahonen S, Rowlan JS, Duncan A, Seppälä EH, Vanhapelto P, Lohi H, Komáromy AM. A novel form of progressive retinal atrophy in Swedish vallhund dogs. PLoS One. 2014;9:e106610.

    Article  Google Scholar 

  • Downs LM, Wallin-Håkansson B, Boursnell M, Marklund S, Hedhammar Å, Truvé K, Hübinette L, Lindblad-Toh K, Bergström T, Mellersh CS. A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One. 2011;6:e21452.

    Article  CAS  Google Scholar 

  • Downs LM, Hitti R, Pregnolato S, Mellersh CS. Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol. 2014;17:126–30.

    Article  CAS  Google Scholar 

  • Drogemuller M, Jagannathan V, Dolf G, Butenhoff K, Kottmann-Berger S, Wess G, Leeb T. A single codon insertion in the PICALM gene is not associated with subvalvular aortic stenosis in Newfoundland dogs. Hum Genet. 2015;134:127–9.

    Article  Google Scholar 

  • Feldman R. The neurobiology of human attachments. Trends Cogn Sci. 2017;21:80–99.

    Article  Google Scholar 

  • Ferraresso S, et al. Epigenetic silencing of TFPI-2 in canine diffuse large B-cell lymphoma. PLoS One. 2014;9:e92707.

    Article  Google Scholar 

  • Freedman AH, et al. Genome sequencing highlights the dynamic early history of dogs. PLoS Genet. 2014;10:e1004016.

    Article  Google Scholar 

  • Haas MA, Ngo L, Li SS, Schleich S, Qu Z, Vanyai HK, Cullen HD, Cardona-Alberich A, Gladwyn-Ng IE, Pagnamenta AT, Taylor JC, Stewart H, Kini U, Duncan KE, Teleman AA, Keays DA, Heng JI. De novo mutations in DENR disrupt neuronal development and link congenital neurological disorders to faulty mRNA translation re-initiation. Cell Rep. 2016;15:2251–65.

    Article  CAS  Google Scholar 

  • Hejjas K, Vas J, Topal J, Szantai E, Ronai Z, Szekely A, Kubinyi E, Horvath Z, Sasvari-Szekely M, Miklosi A. Association of polymorphisms in the dopamine D4 receptor gene and the activity-impulsivity endophenotype in dogs. Anim Genet. 2007;38:629–33.

    Article  CAS  Google Scholar 

  • Holder AL, Price JA, Adams JP, Volk HA, Catchpole B. A retrospective study of the prevalence of the canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK. Canine Genet Epidemiol. 2016;1:10.

    Article  Google Scholar 

  • Howrigan DP, Simonson MA, Keller MC. Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithms. BMC Genomics. 2011;12:460.

    Article  CAS  Google Scholar 

  • Karyadi DM, Karlins E, Decker B, vonHoldt BM, Carpintero-Ramirez G, Parker HG, Wayne RK, Ostrander EA. A copy number variant at the KITLG locus likely confers risk for canine squamous cell carcinoma of the digit. PLoS Genet. 2013;9:e1003409.

    Article  CAS  Google Scholar 

  • Kathrani A, House A, Catchpole B, Murphy A, German A, Werling D, Allenspach K. Polymorphisms in the TLR4 and TLR5 gene are significantly associated with inflammatory bowel disease in German Shepherd dogs. PLoS One. 2010;5:e15740.

    Article  CAS  Google Scholar 

  • Kathrani A, Lee H, White C, Catchpole B, Murphy A, German A, Werling D, Allenspach K. Association between nucleotide oligomerisation domain two (Nod2) gene polymorphisms and canine inflammatory bowel disease. Vet Immunol Immunopathol. 2014;161:32–41.

    Article  CAS  Google Scholar 

  • Kirkness EF, Bafna V, Halpern AL, Levy S, Remington K, Rusch DB, Delcher AL, Pop M, Wang W, Fraser CM, Venter JC. The dog genome: survey sequencing and comparative analysis. Science. 2003;301:1898–903.

    Article  Google Scholar 

  • Kis A, Bence M, Lakatos G, Pergel E, Turcsán B, Pluijmakers J, Vas J, Elek Z, Brúder I, Földi L, Sasvári-Székely M, Miklósi A, Rónai Z, Kubinyi E. Oxytocin receptor gene polymorphisms are associated with human directed social behavior in dogs (Canis familiaris). PLoS One. 2014;9:e83993.

    Article  Google Scholar 

  • Kovacs K, Kis A, Pogany A, Koller D, Topal J. Differential effects of oxytocin on social sensitivity in two distinct breeds of dogs (Canis familiaris). Psychoneuroendocrinology. 2016;74:212–20.

    Article  CAS  Google Scholar 

  • Kubinyi E, Vas J, Hejjas K, Ronai Z, Brúder I, Turcsán B, Sasvari-Szekely M, Miklósi A. Polymorphism in the tyrosine hydroxylase (TH) gene is associated with activity-impulsivity in German Shepherd dogs. PLoS One. 2012;7:e30271.

    Article  CAS  Google Scholar 

  • Kuchtey J, Kunkel J, Esson D, Sapienza JS, Ward DA, Plummer CE, Gelatt KN, Kuchtey RW. Screening ADAMTS10 in dog populations supports Gly661Arg as the glaucoma-causing variant in beagles. Invest Ophthalmol Vis Sci. 2013;54:1881–6.

    Article  CAS  Google Scholar 

  • Lee YS, Challis BG, Thompson DA, Yeo GS, Keogh JM, Madonna ME, Wraight V, Sims M, Vatin V, Meyre D, Shield J, Burren C, Ibrahim Z, Cheetham T, Swift P, Blackwood A, Hung CC, Wareham NJ, Froguel P, Millhauser GL, O’Rahilly S, Farooqi IS. A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance. Cell Metab. 2006;3:135–40.

    Article  Google Scholar 

  • Lee EJ, Merriwether DA, Kasparov AK, Nikolskiy PA, Sotnikova MV, Pavlova EY, Pitulko VV. Ancient DNA analysis of the oldest canid species from the Siberian Arctic and genetic contribution to the domestic dog. PLoS One. 2015;10:e0125759.

    Article  Google Scholar 

  • Li Y, Vonholdt BM, Reynolds A, Boyko AR, Wayne RK, Wu DD, Zhang YP. Artificial selection on brain-expressed genes during the domestication of dog. Mol Biol Evol. 2013;30:1867–76.

    Article  CAS  Google Scholar 

  • Li Y, Wang GD, Wang MS, Irwin DM, Wu DD, Zhang YP. Domestication of the dog from the wolf was promoted by enhanced excitatory synaptic plasticity: a hypothesis. Genome Biol Evol. 2014;6:3115–21.

    Article  Google Scholar 

  • Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, Kamal M, Clamp M, Chang JL, Kulbokas EJ 3rd, Zody MC, Mauceli E, Xie X, Breen M, Wayne RK, Ostrander EA, Ponting CP, Galibert F, Smith DR, PJ DJ, 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, Baldwin J, Abebe A, Abouelleil A, Aftuck L, Ait-Zahra M, Aldredge T, Allen N, An P, Anderson S, Antoine C, Arachchi H, Aslam A, Ayotte L, Bachantsang P, Barry A, Bayul T, Benamara M, Berlin A, Bessette D, Blitshteyn B, Bloom T, Blye J, Boguslavskiy L, Bonnet C, Boukhgalter B, Brown A, Cahill P, Calixte N, Camarata J, Cheshatsang Y, Chu J, Citroen M, Collymore A, Cooke P, Dawoe T, Daza R, Decktor K, DeGray S, Dhargay N, Dooley K, Dooley K, Dorje P, Dorjee K, Dorris L, Duffey N, Dupes A, Egbiremolen O, Elong R, Falk J, Farina A, Faro S, Ferguson D, Ferreira P, Fisher S, FitzGerald M, Foley K, Foley C, Franke A, Friedrich D, Gage D, Garber M, Gearin G, Giannoukos G, Goode T, Goyette A, Graham J, Grandbois E, Gyaltsen K, Hafez N, Hagopian D, Hagos B, Hall J, Healy C, Hegarty R, Honan T, Horn A, Houde N, Hughes L, Hunnicutt L, Husby M, Jester B, Jones C, Kamat A, Kanga B, Kells C, Khazanovich D, Kieu AC, Kisner P, Kumar M, Lance K, Landers T, Lara M, Lee W, Leger JP, Lennon N, Leuper L, LeVine S, Liu J, Liu X, Lokyitsang Y, Lokyitsang T, Lui A, Macdonald J, Major J, Marabella R, Maru K, Matthews C, McDonough S, Mehta T, Meldrim J, Melnikov A, Meneus L, Mihalev A, Mihova T, Miller K, Mittelman R, Mlenga V, Mulrain L, Munson G, Navidi A, Naylor J, Nguyen T, Nguyen N, Nguyen C, Nguyen T, Nicol R, Norbu N, Norbu C, Novod N, Nyima T, Olandt P, O’Neill B, O’Neill K, Osman S, Oyono L, Patti C, Perrin D, Phunkhang P, Pierre F, Priest M, Rachupka A, Raghuraman S, Rameau R, Ray V, Raymond C, Rege F, Rise C, Rogers J, Rogov P, Sahalie J, Settipalli S, Sharpe T, Shea T, Sheehan M, Sherpa N, Shi J, Shih D, Sloan J, Smith C, Sparrow T, Stalker J, Stange-Thomann N, Stavropoulos S, Stone C, Stone S, Sykes S, Tchuinga P, Tenzing P, Tesfaye S, Thoulutsang D, Thoulutsang Y, Topham K, Topping I, Tsamla T, Vassiliev H, Venkataraman V, Vo A, Wangchuk T, Wangdi T, Weiand M, Wilkinson J, Wilson A, Yadav S, Yang S, Yang X, Young G, Yu Q, Zainoun J, Zembek L, Zimmer A, Lander ES. Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature. 2005;438:803–19.

    Article  CAS  Google Scholar 

  • Lingaas F, Comstock KE, Kirkness EF, Sørensen A, Aarskaug T, Hitte C, Nickerson ML, Moe L, Schmidt LS, Thomas R, Breen M, Galibert F, Zbar B, Ostrander EA. 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. 2003;12:3043–53.

    Article  CAS  Google Scholar 

  • Massey J, Short AD, Catchpole B, House A, Day MJ, Lohi H, Ollier WE, Kennedy LJ. Genetics of canine anal furunculosis in the German Shepherd dog. Immunogenetics. 2014;66:311–24.

    Article  CAS  Google Scholar 

  • Melin M, Rivera P, Arendt M, Elvers I, Murén E, Gustafson U, Starkey M, Borge KS, Lingaas F, Häggström J, Saellström S, Rönnberg H, Lindblad-Toh K. Genome-wide analysis identifies germ-line risk factors associated with canine mammary tumours. PLoS Genet. 2016;12:e1006029.

    Article  Google Scholar 

  • Meurs KM, Lahmers S, Keene BW, White SN, Oyama MA, Mauceli E, Lindblad-Toh K. A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher. Hum Genet. 2012;131:1319–25.

    Article  CAS  Google Scholar 

  • Monteagudo LV, Tejedor MT. The b(c) allele of TYRP1 is causative for the recessive brown (liver) colour in German Shepherd dogs. Anim Genet. 2015;46:588–9.

    Article  Google Scholar 

  • Mosher DS, Quignon P, Bustamante CD, Sutter NB, Mellersh CS, Parker HG, Ostrander EA. A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS Genet. 2007;3:e79.

    Article  Google Scholar 

  • Nagasawa M, Mitsui S, En S, Ohtani N, Ohta M, Sakuma Y, Onaka T, Mogi K, Kikusui T. Social evolution. Oxytocin-gaze positive loop and the coevolution of human-dog bonds. Science. 2015;348:333–6.

    Article  CAS  Google Scholar 

  • Oliver JA, Forman OP, Pettitt L, Mellersh CS. Two independent mutations in ADAMTS17 are associated with primary open angle glaucoma in the Basset Hound and Basset Fauve de Bretagne breeds of dog. PLoS One. 2015;10:e0140436.

    Article  Google Scholar 

  • Ovodov ND, Crockford SJ, Kuzmin YV, Higham TF, Hodgins GW, van der Plicht J. A 33,000-year-old incipient dog from the Altai Mountains of Siberia: evidence of the earliest domestication disrupted by the last glacial maximum. PLoS One. 2011;6:e22821.

    Article  CAS  Google Scholar 

  • Parker HG, Ostrander EA. Canine genomics and genetics: running with the pack. PLoS Genet. 2005;1:e58.

    Article  Google Scholar 

  • Persson ME, Wright D, Roth LS, Batakis P, Jensen P. Genomic regions associated with interspecies communication in dogs contain genes related to human social disorders. Sci Rep. 2016;6:33439.

    Article  CAS  Google Scholar 

  • Philipp U, Vollmar A, Haggstrom J, Thomas A, Distl O. Multiple Loci are associated with dilated cardiomyopathy in Irish wolfhounds. PLoS One. 2012;7:e36691.

    Article  CAS  Google Scholar 

  • Quignon P, Herbin L, Cadieu E, Kirkness EF, Hédan B, Mosher DS, Galibert F, André C, Ostrander EA, Hitte C. Canine population structure: assessment and impact of intra-breed stratification on SNP-based association studies. PLoS One. 2007;2:e1324.

    Article  Google Scholar 

  • Raffan E, Dennis RJ, O’Donovan CJ, Becker JM, Scott RA, Smith SP, Withers DJ, Wood CJ, Conci E, Clements DN, Summers KM, German AJ, Mellersh CS, Arendt ML, Iyemere VP, Withers E, Söder J, Wernersson S, Andersson G, Lindblad-Toh K, Yeo GS, O’Rahilly S. A deletion in the canine POMC gene is associated with weight and appetite in obesity-prone labrador retriever dogs. Cell Metab. 2016;23:893–900.

    Article  CAS  Google Scholar 

  • Reiter T, Jagoda E, Capellini TD. Dietary variation and evolution of gene copy number among dog breeds. PLoS One. 2016;11:e0148899.

    Article  Google Scholar 

  • Romero T, Nagasawa M, Mogi K, Hasegawa T, Kikusui T. Oxytocin promotes social bonding in dogs. Proc Natl Acad Sci U S A. 2014;111:9085–90.

    Article  CAS  Google Scholar 

  • Saetre P, Lindberg J, Leonard JA, Olsson K, Pettersson U, Ellegren H, Bergström TF, Vilà C, Jazin E. From wild wolf to domestic dog: gene expression changes in the brain. Brain Res Mol Brain Res. 2004;126:198–206.

    Article  CAS  Google Scholar 

  • Schoenebeck JJ, Hutchinson SA, Byers A, Beale HC, Carrington B, Faden DL, Rimbault M, Decker B, Kidd JM, Sood R, Boyko AR, Fondon JW 3rd, Wayne RK, Bustamante CD, Ciruna B, Ostrander EA. Variation of BMP3 contributes to dog breed skull diversity. PLoS Genet. 2012;8:e1002849.

    Article  CAS  Google Scholar 

  • Shannon LM, Boyko RH, Castelhano M, Corey E, Hayward JJ, McLean C, White ME, Abi Said M, Anita BA, Bondjengo NI, Calero J, Galov A, Hedimbi M, Imam B, Khalap R, Lally D, Masta A, Oliveira KC, Pérez L, Randall J, Tam NM, Trujillo-Cornejo FJ, Valeriano C, Sutter NB, Todhunter RJ, Bustamante CD, Boyko AR. Genetic structure in village dogs reveals a Central Asian domestication origin. Proc Natl Acad Sci U S A. 2015;112:13639–44.

    Article  CAS  Google Scholar 

  • Shearin AL, Ostrander EA. Canine morphology: hunting for genes and tracking mutations. PLoS Biol. 2010;8:e1000310.

    Article  Google Scholar 

  • Stern JA, White SN, Lehmkuhl LB, Reina-Doreste Y, Ferguson JL, Nascone-Yoder NM, Meurs KM. A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs. Hum Genet. 2014;133:1139–48.

    Article  Google Scholar 

  • Stern JA, Hsue W, Song KH, Ontiveros ES, Luis Fuentes V, Stepien RL. Severity of mitral valve degeneration is associated with chromosome 15 loci in whippet dogs. PLoS One. 2015;10:e0141234.

    Article  Google Scholar 

  • Tengvall K, Kierczak M, Bergvall K, Olsson M, Frankowiack M, Farias FH, Pielberg G, Carlborg Ö, Leeb T, Andersson G, Hammarström L, Hedhammar Å, Lindblad-Toh K. Genome-wide analysis in German Shepherd dogs reveals association of a locus on CFA 27 with atopic dermatitis. PLoS Genet. 2013;9:e1003475.

    Article  CAS  Google Scholar 

  • Tengvall K, Kozyrev S, Kierczak M, Bergvall K, Farias FH, Ardesjö-Lundgren B, Olsson M, Murén E, Hagman R, Leeb T, Pielberg G, Hedhammar Å, Andersson G, Lindblad-Toh K. Multiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German Shepherd dogs. BMC Genet. 2016;17:97.

    Article  Google Scholar 

  • Thalmann O, Shapiro B, Cui P, Schuenemann VJ, Sawyer SK, Greenfield DL, Germonpré MB, Sablin MV, López-Giráldez F, Domingo-Roura X, Napierala H, Uerpmann HP, Loponte DM, Acosta AA, Giemsch L, Schmitz RW, Worthington B, Buikstra JE, Druzhkova A, Graphodatsky AS, Ovodov ND, Wahlberg N, Freedman AH, Schweizer RM, Koepfli KP, Leonard JA, Meyer M, Krause J, Pääbo S, Green RE, Wayne RK. Complete mitochondrial genomes of ancient canids suggest a European origin of domestic dogs. Science. 2013;342:871–4.

    Article  CAS  Google Scholar 

  • Toro R, Pérez-Serra A, Campuzano O, Moncayo-Arlandi J, Allegue C, Iglesias A, Mangas A, Brugada R. Familial dilated cardiomyopathy caused by a novel frameshift in the BAG3 gene. PLoS One. 2016;11:e0158730.

    Article  Google Scholar 

  • Truvé K, Dickinson P, Xiong A, York D, Jayashankar K, Pielberg G, Koltookian M, Murén E, Fuxelius HH, Weishaupt H, Swartling FJ, Andersson G, Hedhammar Å, Bongcam-Rudloff E, Forsberg-Nilsson K, Bannasch D, Lindblad-Toh K. Utilizing the dog genome in the search for novel candidate genes involved in glioma development-genome wide association mapping followed by targeted massive parallel sequencing identifies a strongly associated locus. PLoS Genet. 2016;12:e1006000.

    Article  Google Scholar 

  • Tsai KL, Starr-Moss AN, Venkataraman GM, Robinson C, Kennedy LJ, Steiner JM, Clark LA. Alleles of the major histocompatibility complex play a role in the pathogenesis of pancreatic acinar atrophy in dogs. Immunogenetics. 2013;65:501–9.

    Article  CAS  Google Scholar 

  • Vaysse A, Ratnakumar A, Derrien T, Axelsson E, Rosengren Pielberg G, Sigurdsson S, Fall T, Seppälä EH, Hansen MS, Lawley CT, Karlsson EK, Consortium LUPA, Bannasch D, Vilà C, Lohi H, Galibert F, Fredholm M, Häggström J, Hedhammar A, André C, Lindblad-Toh K, Hitte C, Webster MT. Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. PLoS Genet. 2011;7:e1002316.

    Article  CAS  Google Scholar 

  • Vonholdt BM, Pollinger JP, Lohmueller KE, Han E, Parker HG, Quignon P, Degenhardt JD, Boyko AR, Earl DA, Auton A, Reynolds A, Bryc K, Brisbin A, Knowles JC, Mosher DS, Spady TC, Elkahloun A, Geffen E, Pilot M, Jedrzejewski W, Greco C, Randi E, Bannasch D, Wilton A, Shearman J, Musiani M, Cargill M, Jones PG, Qian Z, Huang W, Ding ZL, Zhang YP, Bustamante CD, Ostrander EA, Novembre J, Wayne RK. Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication. Nature. 2010;464:898–902.

    Article  CAS  Google Scholar 

  • Voorbij AM, van Steenbeek FG, Vos-Loohuis M, Martens EE, Hanson-Nilsson JM, van Oost BA, Kooistra HS, Leegwater PA. A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German Shepherd dogs. PLoS One. 2011;6:e27940.

    Article  CAS  Google Scholar 

  • Wang GD, Zhai W, Yang HC, Fan RX, Cao X, Zhong L, Wang L, Liu F, Wu H, Cheng LG, Poyarkov AD, Poyarkov NA Jr, Tang SS, Zhao WM, Gao Y, Lv XM, Irwin DM, Savolainen P, Wu CI, Zhang YP. The genomics of selection in dogs and the parallel evolution between dogs and humans. Nat Commun. 2013;4:1860.

    Article  Google Scholar 

  • Wiik AC, Ropstad EO, Ekesten B, Karlstam L, Wade CM, Lingaas F. Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet. 2015;46:515–21.

    Article  CAS  Google Scholar 

  • Wijesena HR, Schmutz SM. A missense mutation in SLC45A2 is associated with albinism in several small long haired dog breeds. J Hered. 2015;106:285–8.

    Article  CAS  Google Scholar 

  • Winkler PA, Gornik KR, Ramsey DT, Dubielzig RR, Venta PJ, Petersen-Jones SM, Bartoe JT. A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. PLoS One. 2014;9:e92127.

    Article  Google Scholar 

  • Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Arzi B, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FW, Murray JC, Wade CM, Marazita ML, Bannasch DL. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet. 2015;11:e1005059.

    Article  Google Scholar 

  • Wong AK, Ruhe AL, Robertson KR, Loew ER, Williams DC, Neff MW. A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs. Anim Genet. 2013;44:305–10.

    Article  CAS  Google Scholar 

  • Yang M, Geng GJ, Zhang W, Cui L, Zhang HX, Zheng JL. SNP genotypes of olfactory receptor genes associated with olfactory ability in German Shepherd dogs. Anim Genet. 2016;47:240–4.

    Article  CAS  Google Scholar 

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Acknowledgments

Dr. Irizarry acknowledges the role his father and mother had in inspiring him to write this chapter by introducing Dr. Irizarry to the human-animal bond through special relationships with family dogs. Furthermore, Dr. Irizarry wishes to acknowledge the many conversations he had with his parents about cognition, dogs, domestication, and what makes dogs “our best friend.” Those experiences and conversations ultimately paved the path to this chapter. The authors thank Dr. Om Rajora for reading the manuscript and making suggestions during the editing process. Dr. Rajora is acknowledged for simplifying, helping improve text, and favorably upgrading canine knowledge in our chapter. The authors wish to thank Chris Vander Veen for taking time to help prepare documents, without which, this chapter could not be published. The authors are most thankful for the invention of computers, the Internet, word processing programs, and internet-accessible storage platforms which have greatly enhanced collaborative production and sharing of this chapter. The authors fully recognize the hard work of all the people who contributed to the IT environment at Western University of Health Sciences and on Earth. Their commitment to technology ultimately allowed this chapter to be created and reviewed across multiple countries. Without their hard work, this chapter would never see the light of day. The authors are also most appreciative of the hundreds of veterinarians, doctors, scientists, and authors that have published the papers and figures that contributed to the content of this chapter. We truly thank, respect, and value each one of you. Finally, the authors would like to acknowledge the wonderful dogs each of us has known that have inspired and motivated us to learn more about their origins, their health, and their cognition.

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Correspondence to Kristopher J. L. Irizarry .

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Irizarry, K.J.L., Vasconcelos, E.J.R. (2018). Population Genomics of Domestication and Breed Development in Canines in the Context of Cognitive, Social, Behavioral, and Disease Traits. In: Rajora, O. (eds) Population Genomics. Population Genomics. Springer, Cham. https://doi.org/10.1007/13836_2018_43

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