OMIA 000439-9793 : Hair, long in Equus asinus

In other species: domestic cat , goat , golden hamster , dog , rabbit , cattle , domestic guinea pig , llama

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FGF5 fibroblast growth factor 5 Equus asinus - no genomic information (-..-) FGF5 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Hair, long FGF5 nonsense (stop-gain) c.245G > A 2014 25927731
Hair, long FGF5 deletion, small (<=20) c.433_434delAT 2014 25927731

Reference


2014 Legrand, R., Tiret, L., Abitbol, M. :
Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys. Genet Sel Evol 46:65, 2014. Pubmed reference: 25927731. DOI: 10.1186/s12711-014-0065-5.

Edit History


  • Created by Frank Nicholas on 15 Sep 2016
  • Changed by Frank Nicholas on 15 Sep 2016