ICCFGG 2022
#35 Major Histocompatibility Complex (MHC) allele and three-locus haplotype diversity in canid species Lorna J Kennedy1 , Greger Larson2, Elaine Ostrander3, Peter Parham4, Ronald Bontrop5, and William ER Ollier1 Lorna.Kennedy@manchester.ac.uk 1Centre for Integrated Genomic Medical Research, University of Manchester, UK, 2The Palaeogenomics & Bio-Archaeology Research Network, University of Oxford, UK, 3National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA, 4Department of Structural Biology, Stanford University, California, USA, 5Department of Comparative Genetics & Refinement, BPRC, The Netherlands The major histocompatibility complex (MHC) has been investigated in many mammalian species. To date, no substantial level of sharing of alleles and haplotypes has been observed amongst related species. As we describe below, canids are an exception to this finding. We characterised alleles at three loci in the canine MHC (termed DLA): DLA-DRB1/DQA1/DQB1. Alleles were assigned to haplotypes using an iterative process, by initially identifying haplotypes in homozygous dogs. Finding these haplotypes in heterozygous dogs allowed identification of further haplotypes. We have data for 14,476 domestic dogs, 739 village dogs, (from 13 countries), 1,100 grey wolves and 277 coyotes, from multiple locations. Diversity was assessed based on the numbers of homozygous animals, and the number of major haplotypes found in each group. We observed 31% domestic dogs were homozygous at all three loci, 9% village dogs, 20% grey wolves and 12% coyotes. There were 181, 122, 57 and 61 haplotypes in each group, respectively; 72 were shared by domestic and village dogs. However, 66% of haplotypes in grey wolves and 72% of those in coyotes were unique to those species. Overall, eight haplotypes were shared between dog/grey wolf, four between dog/coyote, two between dog/grey wolf/coyote, and six between grey wolf/coyote. This level of allele and haplotype sharing is both significant and unexpected. When we included dingo, golden jackal, Ethiopian wolf, and African wild dog, a complicated pattern of shared alleles at each locus emerged. Previous studies of DLA allele and haplotype sharing were based on relatively small sample sizes within each of the four groups described above. This study provides a unique insight into DLA allele and haplotype distribution in the largest dataset assembled to date. #36 Allele drop-out cases in screening of HCM assoicted ALMS1 gene variant in Italian Sphynx cats Longeri M.3 , Turba M.E.1, Ferrari P.2, Milanesi R.3, Gentilini F.4 maria.longeri@unimi.it 1Genefast srl, Forlì, Italy, 2Osservatorio Veterinario Italiano Cardiopatie, Azzano S. Paolo, Bergamo, Italy, 3Dept. of Veterinary Medicine and Animal Science, University of Milan, Italy, 4Dept. of Veterinary Medical Sciences, University of Bologna, Bologna, Italy Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy in domestic cats. Several clinical forms have been identified and both classification and differentiation from normal variation are still often difficult. In pure breeds (Maine Coon, Ragdoll, and Sphynx) and random-bred cats
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