ICCFGG 2022
#16 Canine lineages reveal genetic drivers of dog behavioral diversification
Emily V. Dutrow 1 , James A. Serpell 2 , Elaine A. Ostrander 1 emily.dutrow@nih.gov 1 National Human Genome Research Institute, National Institutes of Health, Bethesda MD,, USA 2 De- partment of Clinical Sciences and Advanced Medicine, University of Pennsylvania School of Veterinary Medicine, Philadelphia PA, USA Selective breeding of domestic dogs for specific working and sporting occupations has produced an unparalleled system for studying the genetic underpinnings of behavioral diversity. However, identification of loci driving canine behavioral diversification is challenging due to the complexity of canine population structure, shaped by frequent bottlenecks and varying degrees of selective breeding for behavioral and aesthetic traits. Here, we develop a novel framework for uncovering relationships between domestic dogs and the behavioral characteristics that define them in order to overcome longstanding barriers to identifying genetic drivers of complex canine traits. Using a dimensionality reduction approach aimed at capturing complex relationships between individ- ual dogs, breeds, and larger canine populations, we identify 10 major lineages of canine genetic variation based on genetic data from over 4,000 domestic, semi-feral, and wild canids. Next, we establish behavioral correlates of the major canine lineages using a comprehensive behavioral dataset for over 46,000 purebred dogs, uncovering key phenotypic shifts corresponding to divergent working roles. Using whole genome sequencing data, we identify variants underlying canine phe- notypic specificity, determining that breed diversification is principally driven by regulatory variation often implicated in neurodevelopmental functions. We identify a sheepdog-associated enrichment for interrelated axon guidance functions, suggesting a complex mode of inheritance for herding-re- lated behaviors involving variants that iteratively modulate neuronal circuity. This study provides a critical advance in identifying genetic drivers of canine behavior and deepens our understanding of how human beings shaped the domestic dog genome. #17 Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats Heidi Anderson 1 , Stephen Davison 1 , Katherine M. Lytle 1 , Leena Honkanen 1 , Jamie Freyer 1 , Julia Mathlin 1 , Kaisa Kyöstilä 2,3,4 , Laura Inman 1 , Annette Louviere 1 , Rebecca Chodroff Foran 1 , Oliver P. Forman 1 , Hannes Lohi 2,3,4 , Jonas Donner 1 heidi.anderson@kinship.co 1 Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, USA, 2 Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland, 3 Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland, 4 Folkhälsan Research Center, Helsinki, Finland In the largest DNA-based study of domestic cats to date, 11,036 individuals were genotyped via commercial panel testing elucidating the distribution and frequency of known disease, blood type, and physical trait associated genetic variants across cat breeds. This study provides allele frequencies for many disease-associated variants for the first time and updates on previously reported information with evidence suggesting that DNA testing has been effectively used to reduce disease-associated variants within certain pedigreed cat populations over time. We identified 13 disease-associated variants in 47 breeds or breed types in which the variant had not previously
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