A deletion in FOXN1 is associated with a syndrome characterized by congenital hypotrichosis and short life expectancy in Birman cats

PloS One
Marie AbitbolLaurent Tiret

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 h...Continue Reading

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Citations

Oct 1, 2019·The Journal of Clinical Investigation·Qiumei DuNicolai Sc van Oers
Feb 23, 2019·PloS One·Magdalena A T BrunnerMonika M Welle
Jul 19, 2016·Veterinary Dermatology·Tosso LeebMonika Welle
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Feb 27, 2017·G3 : Genes - Genomes - Genetics·Anina BauerMonika M Welle
Dec 29, 2020·EMBO Reports·Jian LiJanice L Brissette

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Datasets Mentioned

BETA
KJ849281
KJ849282

Methods Mentioned

BETA
genotyping
nuclear translocation
xenograft
PCR

Software Mentioned

Ensembl
PROVEAN
Primer3

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