In other species: dog , domestic cat , Arabian camel , llama , taurine cattle , goat , sheep , rabbit , golden hamster , domestic guinea pig , domestic yak , alpaca

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 190330 (trait) , 165190 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0008593: trichomegaly

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2014

Cross-species summary: Long hair = angora

Molecular basis: Legrand et al. (2014) "identified a recessive c.433_434delAT frameshift deletion in FGF5, present in Poitou and three other donkey breeds and a recessive nonsense c.245G > A substitution, present in Poitou and four other donkey breeds. The frameshift deletion was associated with the long-hair phenotype in Poitou donkeys when present in two copies (n = 31) or combined with the nonsense mutation (n = 4). The frameshift deletion led to a stop codon at position 159 whereas the nonsense mutation led to a stop codon at position 82 in the FGF5 protein. In silico, the two truncated FGF5 proteins were predicted to lack the critical β strands involved in the interaction between FGF5 and its receptor, a mandatory step to inhibit hair growth."

Breed: Poitou (Ass) (VBO_0000058).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: