ArticleMammalian genome : official journal of the International Mammalian Genome Society2017
A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
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- Chromosome-scale assembly with improved annotation provides insights into breed-wide genomic structure and diversity in domestic cats.Journal of advanced research · 2025Article
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- Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat.Journal of veterinary internal medicine · 2020Article
- A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism.PLoS genetics · 2020Article
- Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon inG3 (Bethesda, Md.) · 2020Article
- A Deletion inGenes · 2020Article
- Precision medicine validation: identifying theJournal of feline medicine and surgery · 2019Article
- Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome bJournal of veterinary internal medicine · 2019Article
- Identification and quantification of domestic feline cytochrome P450 transcriptome across multiple tissues.Journal of veterinary pharmacology and therapeutics · 2019Article
- First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data.BMC genomics · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
Abstract
British shorthair (BSH) kittens in multiple litters died as a result of a severe non-neoplastic lymphoproliferative disease that showed many similarities with human autoimmune lymphoproliferative syndrome (ALPS). Human ALPS is caused by inherited defects in FAS-mediated lymphocyte apoptosis and the possibility of similar defects was investigated in BSH cats. The whole genomes of two affected kittens were sequenced and compared to 82 existing cat genomes. Both BSH kittens had homozygous insertions of an adenine within exon 3 of the FAS-ligand gene. The resultant frameshift and premature stop codon were predicted to result in a severely truncated protein that is unlikely to be able to activate FAS. Three additional affected BSH kittens were homozygous for the variant, while 11 of 16 unaffected, but closely related, BSH cats were heterozygous for the variant. All BSH cats in the study were from a population with significant inbreeding. The variant was not identified in a further survey of 510 non-BSH cats. Identification of a genetic defect in the FAS-mediated apoptosis pathway confirms that the lymphoproliferative disease in BSH cats fulfills the diagnostic criteria for ALPS in humans. These results will enable the development of a genetic test to detect BSH carrier animals.
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