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FELINE PHENOTYPE ONTOLOGY

Leslie A. Lyons, PhD

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Gilbreath McLorn Endowed Professor of Comparative Medicine

Department of Veterinary Medicine & Surgery

College of Veterinary Medicine

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lyonsla@missouri.edu

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Inbread Cats

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FELINE GENETICS & GENOMICS FUNDING

Donations!

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  • Phenotype ontology - a standardized vocabulary of phenotypic abnormalities

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  • Cats tend to follow human nomenclature for gene names: MTM1, LYST, MAOA,….

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  • Cat phene repository – Online Mendelian Inheritance in Animals (OMIA)

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Feline Phenotype Ontology

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Exome - $250

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WGS - $650 (30x & library)

2022 Cost – NovaSeq 6000 @ MU

Access to Illumina Xten

$ 3,000 per 2.6 Gb @ 30x

Now cheaper than some veterinary diagnostics and procedures

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CAUSAL DNA VARIANTS IN CATS

  • OMIA – 99 cat traits/ disorders with known variants

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  • Approximately 160 causal variants (14 AB blood type)

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  • Breed-associated disease variants = 30
    • (1 cancer-association)

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  • Random bred cat disease variants = 62

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  • Phenotypic variants = 51

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  • Cat specific = 2 (Sweet taste receptor, Def. acetaminophen glucuronidation

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FELINE PHENOTYPES

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MUNCHKINS – NEW DWARFISM MODEL - UGDH

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CANINE PRECISION / GENOMIC MEDICINE

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MARS – WISDOM HEALTH – OPTIMAL SELECTION

~150 genetic mutations known in cats

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CAT STANDARDIZATION

  • Ad hoc group of scientists, veterinarians & cat breeders / judges

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  • To be used by: OMIA, literature, cat registries, commercial services, veterinary software

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  • Follow established nomenclature standards
    • Human & mouse

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  • Ehlers-Danlos = ectodermal dysplasia = cutaneous asthenia

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  • Retinitis pigmentosa = progressive retinal atrophy

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BREED & ALLELE STANDARDS

  • Comprehensive list of cats breeds with standard 3 letter acronyms established

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  • Conversion of phenotypic alleles to mouse / humans standards

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  • Standard set of disease & phenotype descriptions
    • For veterinarians & commercial services

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99 LIVES SEQUENCE CONTRIBUTORS - 340 CATS �38 CONTRIBUTORS

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POSITIONS OF DNA VARIANTS

Only 30 – 40% of diseases solved because variant is in the exon

Gene Regulation sequences

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New cat genome reference = Fca126

Cinnamon = cat genome reference = retired!

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Cats rule, dogs drool!