OMIA 000031-452646 : Coat colour, dilute in Neovison vison

In other species: dog , domestic cat , horse , cattle , rabbit

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609227

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2013

Cross-species summary: Also known as Coat colour, dilution

Species-specific name: Silver-blue coat colour

Species-specific symbol: p

Inheritance: The silver-blue coat colour, which is analogous to the dilute phenotype in other species, is inherited as an autosomal recessive at the Silver locus (Anistoroaei and Christensen, 2007). The symbol for the recessive allele is p.

Mapping: Anistoroaei and Christensen (2007) linkage-mapped this locus to chromosome NVI13, and showed that this locus was coincident with "A Canis familiaris BAC clone containing the melanophilin gene (which generates 'silver-like' phenotype in dog)", strongly suggesting that the silver locus in American mink is the MLPH locus. Using three microsatellites from a contig containing MLPH, Cicera et al. (2013) confirmed these results by linkage-mapping all three markers to the appropriate region of chromosome NVI3. They also reported physically mapping one of the microsatellites to NVI3q1.3-2.2.

Molecular basis: By sequencing the positional candidate MLPH gene (see mapping section above) in silverblue, violet and wild-type mink, Cirera et al. (2013) "identified two deletions of the entire intron 7 and of the 5′ end of intron 8 in the sequence of the Silverblue MLPH gene". Investigation of MLPH mRNA revealed that "the Silverblue animals completely lack exon 8, which encodes 65 residues, of which 47 define the Myosin Va (MYO5A) binding domain. This may cause the incorrect anchoring of the MLPH protein to MYO5A in Silverblue animals, resulting in an improper pigmentation as seen in diluted phenotypes." Interestingly, even though the silverblue allele lacks the entire exon 8, it has "retained part of the intron 8 in the coding region. This introduces a stop codon, leading to a truncated protein 284 residues long that is lacking almost all MYO5A Va and all actin-binding domains". In addition, the authors reported that "in the MLPH mRNA of wt, Violet and Silverblue phenotypes, part of intron 8 is retained resulting in a truncated MLPH protein, which is 359 residues long in wt and Violet and 284 residues long in Silverblue."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MLPH Neovison vison - no genomic information (-..-) MLPH 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
Coat colour, silver-blue MLPH deletion, gross (>20) deletion of exon 8 2013 23747352

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.
2013 Cirera, S., Markakis, M.N., Christensen, K., Anistoroaei, R. :
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink. Gene 527:48-54, 2013. Pubmed reference: 23747352. DOI: 10.1016/j.gene.2013.05.047.
2009 Trapezov, O.V., Trapezova, L.I., alekhina, T.A., Klochkov, D.V., Ivanov, I.u.N. :
[Effects of monorecessive and double recessive mutations affecting coat color on the monoamine content of the brain of the American mink (Mustela vison Schreber, 1777)]. Genetika 45:1641-5, 2009. Pubmed reference: 20198975.
2007 Anistoroaei, R., Christensen, K. :
Mapping of the silver gene in mink and its association with the dilution gene in dog. Cytogenet Genome Res 116:316-8, 2007. Pubmed reference: 17431331. DOI: 10.1159/000100417.
1996 Popova, N.K., Nikulina, E.M., Voitenko, N.N., Avgustinovich, D.F., Trapezov, O.V. :
The one-locus silver-blue fur color mutation (pp) in minks affects the dopamine system of the brain [Russian] Genetika 32:452-454, 1996. Pubmed reference: 8723640.

Edit History


  • Created by Frank Nicholas on 15 Sep 2018
  • Changed by Frank Nicholas on 15 Sep 2018