OMIA 001249-452646 : Coat colour, brown, TYRP1-related in Neovison vison

In other species: cattle , horse , dog , domestic cat , sheep , pig , golden hamster , North American deer mouse , goat , rabbit , Mongolian gerbil

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612271 , 203290 , 115501

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)

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYRP1 Neovison vison - no genomic information (-..-) TYRP1 Ensembl

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

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
American Palomino coat colour TYRP1 b^p insertion, gross (>20) "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

References


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.

Edit History


  • Created by Frank Nicholas on 13 Apr 2016
  • Changed by Frank Nicholas on 13 Apr 2016
  • Changed by Frank Nicholas on 27 Oct 2020