OMIA 000439-9844 : Hair, long in Lama glama |
In other species:
dog
,
domestic cat
,
ass
,
cattle
,
goat
,
rabbit
,
golden hamster
,
domestic guinea pig
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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| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Long hair | FGF5 | complex rearrangement | A "a single base deletion (c.348delA), [and] a 12-bp insertion (c.351_352insCATATAACATAG)" that comprise a single likely causal variant | 2017 | 29024003 | |||||||||
| Long hair | FGF5 | nonsense (stop-gain) | 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