OMIA:002275-452646 : Coat colour, HPS3-related in Neovison vison (American mink) |
In other species: dog
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 614072 (trait) , 606118 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2024
Cross-species summary: Loss of function variants in the HPS3 gene encoding "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1" may lead to a phenotype characterized by pigment dilution, (mildly) impaired visual acuity, nystagmus, and a (mild) bleeding disorder. Phene was renamed from 'Coat colour, cocoa' to 'Coat colour, HPS3-related' [29/08/2024]
Species-specific name: royal pastel coat colour
Species-specific symbol: b
Molecular basis: Manakhov et al. (2024) "identified an insertion of endogenous retroviral element type 1 (ERV1) into the first intron of the gene encoding the HPS3 protein, which regulates the trafficking of tyrosinase-containing vesicles to maturing melanosomes" as likely causal variant for Royal pastel fur colour.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| HPS3 | HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | Neovison vison | 6 | NC_058096.1 (75137396..75176765) | HPS3 | Homologene, Ensembl , NCBI gene |
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1731 | Coat colour, Royal pastel | HPS3 | b | insertion, gross (>20) | Naturally occurring variant | NNQGG.v01 | 6 | NC_058096.1:g.75137871_75137872ins[OR863243];75137865_75137871 | 2024 | 38956930 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002275-452646: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Manakhov, A.D., Aarakelyan, N.A., Lapteacru, A.V., Andreeva, T.V., Trapezov, O.V., Rogaev, E.I. : |
| Genomic analysis links the American mink Royal pastel coat phenotype to retroviral element type 1 insertion in the HPS3 gene. Anim Genet , 2024. Pubmed reference: 38956930. DOI: 10.1111/age.13461. | |
| 2022 | Valipour, S., Karimi, K., Do, D.N., Barrett, D., Sargolzaei, M., Plastow, G., Wang, Z., Miar, Y. : |
| Genome-Wide Detection of Selection Signatures for Pelt Quality Traits and Coat Color Using Whole-Genome Sequencing Data in American Mink. Genes (Basel) 13:1939, 2022. Pubmed reference: 36360176. DOI: 10.3390/genes13111939. | |
| 1994 | Prasolova, L.A., Tichomirov, I.B., Vsevolodov, E.B., Latypov, I.F., Trapezov, O.V. : |
| Phenogenetic Analysis of Pigmentation of a New Coat Color Mutation of American Mink (Mustela vison schr L) and Its Combinations with Some of the Known Mutations Genetika 30:255-60, 1994. Pubmed reference: 8045387. |
Edit History
- Created by Imke Tammen2 on 29 Aug 2024
- Changed by Imke Tammen2 on 29 Aug 2024