OMIA:000439-9844 : Hair, long in Lama glama |
In other species: domestic cat , goat , golden hamster , dog , rabbit , cattle , ass , 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:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FGF5 | Lama glama | - | no genomic information (-..-) | FGF5 | Ensembl |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 983 | Long hair | FGF5 | complex rearrangement | Naturally occurring variant | A "a single base deletion (c.348delA), [and] a 12-bp insertion (c.351_352insCATATAACATAG)" that comprise a single likely causal variant | 2017 | 29024003 | ||||||||||
| 984 | Long hair | FGF5 | nonsense (stop-gain) | Naturally occurring variant | c.499C>T | 2017 | 29024003 |
Reference
| 2017 | Daverio, M.S., Vidal-Rioja, L., Frank, E.N., Di Rocco, F. : |
| Molecular characterization of the llama FGF5 gene and identification of putative loss of function mutations. Anim Genet 48:716-719, 2017. Pubmed reference: 29024003 . DOI: 10.1111/age.12616. |
Edit History
- Created by Frank Nicholas on 09 Apr 2018
- Changed by Frank Nicholas on 11 Apr 2018