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

Categories: Integument (skin) phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 190330 (trait) , 165190 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: Long hair = angora

Molecular basis: Daverio et al. (2017): "All animals analyzed were homozygous for one of the . . . [two likely causal variants, namely the haplotype comprising c.348delA and c.351_352insCATATAACATAG, or the [nonsense] variant c.499T] or compound heterozygous for both (i.e. c.348delA, c.351_352insCATATAACATAG/c.499T). Sequencing of guanaco samples showed that the FGF5 gene encodes a full-length 270-amino acid protein. These results suggest that FGF5 is likely functional in short-haired wild species and non-functional in the domestic fiber-producing species, the llama". Noting that the haplotype variant results in "a putative truncated protein of 123 amino acids" and the nonsense variant "leads to a premature stop codon at position 168", and "Sequencing of guanaco samples showed that the FGF5 gene encodes a full-length 270-amino acid protein", Daverio et al. (2017) concluded that "These results suggest that FGF5 is likely functional in short-haired wild species and non-functional in the domestic fiber-producing species, the llama".

Associated gene: