ArticlePloS one2015
A deletion in FOXN1 is associated with a syndrome characterized by congenital hypotrichosis and short life expectancy in Birman cats.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- The late arrival of domestic cats in China via the Silk Road after 3,500 years of human-leopard cat commensalism.Cell genomics · 2026Article
- Comprehensive phenotypic analysis of diverse FOXN1 variants.The Journal of allergy and clinical immunology · 2023Article
- Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome.The Journal of clinical investigation · 2022Article
- Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.PLoS genetics · 2022Article
- Article
- A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits.Genetics, selection, evolution : GSE · 2021Article
- Modeling by disruption and a selected-for partner for the nude locus.EMBO reports · 2021Article
- Werewolf, There Wolf: Variants inGenes · 2020Article
- Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.Frontiers in immunology · 2020Review
- FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.The Journal of clinical investigation · 2019Article
- Article
- Sp1 is an important transcriptional regulation factor for forkhead box N1 in pig.Journal of genetics · 2018Article
- Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin βVeterinary clinical pathology · 2017Article
- A Nonsense Variant in theG3 (Bethesda, Md.) · 2017Article
- Cats are not small dogs: is there an immunological explanation for why cats are less affected by arthropod-borne disease than dogs?Parasites & vectors · 2016Review
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4 authors.
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Abstract
An autosomal recessive syndrome characterized by congenital hypotrichosis and short life expectancy has been described in the Birman cat breed (Felis silvestris catus). We hypothesized that a FOXN1 (forkhead box N1) loss-of-function allele, associated with the nude phenotype in humans, mice and rats, may account for the syndrome observed in Birman cats. To the best of our knowledge, spontaneous mutations in FOXN1 have never been described in non-human, non-rodent mammalian species. We identified a recessive c.1030_1033delCTGT deletion in FOXN1 in Birman cats. This 4-bp deletion was associated with the syndrome when present in two copies. Percentage of healthy carriers in our French panel of genotyped Birman cats was estimated to be 3.2%. The deletion led to a frameshift and a premature stop codon at position 547 in the protein. In silico, the truncated FOXN1 protein was predicted to lack the activation domain and critical parts of the forkhead DNA binding domain, both involved in the interaction between FOXN1 and its targets, a mandatory step to promote normal hair and thymic epithelial development. Our results enlarge the panel of recessive FOXN1 loss-of-function alleles described in mammals. A DNA test is available; it will help owners avoid matings at risk and should prevent the dissemination of this morbid mutation in domestic felines.
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