In other species: domestic cat , ass (donkey) , 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

Disease-related: no

Key variant known: yes

Year key variant first reported: 2006

Cross-species summary: Long hair = angora

Mapping: Jones et al. (2008) conducted an across-breed GWAS on 2,801 dogs from 147 breeds, each genotyped for 674 equally spaced SNPs, plus an additional 862 SNPs located in regions of interest. The results highlighted the region on CFA32 containing the FGF5 gene (shown to be causal by Housley and Venta, 2006) and one of lower significance on CFA25. By conducting a GWAS on "903 dogs from 80 breeds with eight to 12 dogs unrelated at the grandparent level chosen to represent each breed", each dog genotyped with an Affymetrix Version 2 Canine SNP chip (yielding 40,812 informative SNPs for analysis), Cadieu et al. (2009) highlighted the region on chromosome CFA32 that contains the FGF5 gene, a mutation in which had been shown to be causal of hair length by Housley and Venta (2006) (see Molecular Basis section).

Molecular basis: Using the candidate-gene approach, Housley and Venta (2006) sequenced the FGF5 gene in short- and long-haired dogs, and revealed the causative mutation to be "a missense mutation, resulting in the substitution of Phe for Cys, in a highly conserved region. Genotyping of 218 dogs from three breeds fixed for long hair, eight breeds fixed for short hair and five breeds in which long hair is segregating provided evidence that the missense mutation is associated with the hair-length differences among these breeds." Cadieu et al. (2009) confirmed this causal mutation. Dierks et al. (2013) "detected three novel mutations in the coding sequence and one novel non-coding splice-site mutation in FGF5 associated with the long-hair phenotype".

Breeds: Afghan Hound (Dog) (VBO_0200004), Border Collie (Dog) (VBO_0200193), Cocker Spaniel (Dog) (VBO_0200372), Collie (Dog) (VBO_0200375), Dachshund (Dog) (VBO_0200406), German Shepherd Dog (Dog) (VBO_0200577), Golden Retriever (Dog) (VBO_0200610), Pembroke Welsh Corgi (Dog) (VBO_0200995), Pomeranian (Dog) (VBO_0201043), Samoyed (Dog) (VBO_0201174).
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: