OMIA:001249-452646 : Coat colour, brown, TYRP1-related in Neovison vison
Categories: Pigmentation phene
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: 2016
Species-specific description: The following summary has been provide by Cirera et al. (2016): "In American mink (Neovison vison), a total of 12 phenotypes display a brown appearance in a wide range (Nes et al., 1988). . . . The various brown coat colours in American mink have a brownish appearance that can vary within the phenotype but also during the animal life. However, for commercial purposes the colours are recorded at the pelting time, which is when the fur colour has reached its “maturity”. One important colour in the brown spectrum of mink is American Palomino (AP) . . . symbolized as kk in the Scandinavian nomenclature and b^p b^p in the American nomenclature (Nes et al. 1988). The AP mutant appeared first in a farm in Canada in the middle of the twentieth century (King 1951). The coat colour appears as a clear pale tan, and on a prime pelt it easily turns slightly red while the eyes are pink or red (Nes et al. 1988).
Inheritance: "All brown phenotypes are inherited as a simple recessive trait, thus only homozygous individuals display the phenotype." (Cirera et al., 2016)
Mapping: Based on mink sequence homology to human and dog (Graphodatsky et al. 2000; Hameister et al. 1997), the gene and sequences were located by Cirera et al. (2016) to mink chromosome 2, close to the centromere.
Molecular basis: Sequencing of the positional/functional candidate gene TRYP1 revealed the likely causal variant of the Palomino coat colour to be an insert of approximately 8kb at the beginning of intron 2, which is likely to disrupt slicing (Cicera et al., 2016)
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYRP1||Neovison vison||-||no genomic information (-..-)||TYRP1||Ensembl|
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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|
|1255||American Palomino coat colour||TYRP1||b^p||insertion, gross (>20)||Naturally occurring variant||"a large insertion of approximately eight kb. The insertion most likely disrupts different elements necessary for the splicing of intron 2 of the TYRP1 gene" (Cicera et al., 2016)||2016||26886941|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2016||Cirera, S., Markakis, M.N., Kristiansen, T., Vissenberg, K., Fredholm, M., Christensen, K., Anistoroaei, R. :|
|A large insertion in intron 2 of the TYRP1 gene associated with American Palomino phenotype in American mink. Mamm Genome 27:135-43, 2016. Pubmed reference: 26886941 . DOI: 10.1007/s00335-016-9620-4.|
|2000||Graphodatsky, A.S., Yang, F., Serdukova, N., Perelman, P., Zhdanova, N.S., Ferguson-Smith, M.A. :|
|Dog chromosome-specific paints reveal evolutionary inter- and intrachromosomal rearrangements in the American mink and human. Cytogenet Cell Genet 90:275-8, 2000. Pubmed reference: 11124533 . DOI: 56788.|
|1997||Hameister, H., Klett, C., Bruch, J., Dixkens, C., Vogel, W., Christensen, K. :|
|Zoo-FISH analysis: the American mink (Mustela vison) closely resembles the cat karyotype. Chromosome Res 5:5-11, 1997. Pubmed reference: 9088638 .|
|1988||Nes, N.N., Einarsson, E.J., Lohi, O. :|
|Beautiful fur animals—and their colour genetics Scientifur, Hilleroed :, 1988.|
|1951||King, R.C. :|
|Genetics of mink International Publishers Co, Duluth :, 1951.|
- Created by Frank Nicholas on 13 Apr 2016
- Changed by Frank Nicholas on 13 Apr 2016
- Changed by Frank Nicholas on 27 Oct 2020