OMIA:000439-9793 : Hair, long in Equus asinus |
In other species: domestic cat , goat , golden hamster , dog , rabbit , taurine cattle , domestic guinea pig , llama , 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
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).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FGF5 | fibroblast growth factor 5 | Equus asinus | 3 | NC_052179.1 (161372969..161394000) | FGF5 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 347 | Hair, long | FGF5 | nonsense (stop-gain) | Naturally occurring variant | c.245G>A | 2014 | 25927731 | ||||||||||
| 560 | Hair, long | FGF5 | deletion, small (<=20) | Naturally occurring variant | 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