OMIA:002197-9615 : Coat colour, phaeomelanin dilution, MFSD12-related in Canis lupus familiaris (dog) |
In other species: horse
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 617745 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2019
Cross-species summary: pheomelanin dilution, pigment intensity
Species-specific name: This entry describes the Intensity (I) locus; sometimes called the Intense (Int) locus
Species-specific symbol: I; previously called Int
Species-specific description: Hédan et al. (2019): "Thanks to a multiple step GWAS approach, we confirmed that solid white coat color in dogs may result from the absence of eumelanin (e/e at the MC1R locus) and an extreme dilution of phaeomelanin, confirming the hypothesis of Sponenberg and Rothschild [2001] on the existence of an I locus and later, the work of Schmutz and Berryere [2007; J. Heredity]."
History: As summarised by Carver (1984), Iljin (1932) proposed a locus with "a series of phaeomelanin intensifying alleles" with order of dominance "Int/- (cream) > int^f/- (fawn) > int/int (tan)". Iljin (1941) named the locus "intensification of the zonarity", with the symbol "Int", where "zonarity" refers to the differentially-pigmented band on a hair fibre that is characteristic of the agouti coat colour (OMIA 000201-9615). Following Iljin (1941), Carver (1984) called this the Int locus. Citing Iljin (1932) and Carver (1984), Sponenberg and Rothschild (2001) hypothesised "an autosomal locus [that] affects the intensity of phaeomelanic areas but leaves eumelanic areas relatively unchanged". They called this the Intense locus (Int). Schmutz and Berryere (2007; Animal Genetics) changed the locus symbol to "I", to render it consistent with the convention for single-letter canine pigmentation locus symbols. Hédan et al. (2019) refer to the locus as "Intensity" with symbol "I", which can now be regarded as the preferred name and symbol. (Thanks to Sheila Schmutz for invaluable contributions to this summary)
Mapping: Hédan et al. (2019) mapped the I locus to chromosome CFA20 at around 55Mb.
Molecular basis: Hédan et al. (2019) "identified a unique missense variant that was located in the first exon of MFSD12 [CFA20: g.55,850,145C>T]. . . , based on alignments with the human genome and the annotation of the human orthologous transcript ENST00000355415: MFSD12: p.(Arg51Cys). This dog variant is exactly orthologous to the human variant rs751585493 (ENST00000355415 Chr19:3557253 G > A; p.(Arg51Cys)."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MFSD12 | major facilitator superfamily domain containing 12 | Canis lupus familiaris | 20 | NC_051824.1 (56514447..56522856) | MFSD12 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1081 | Afghan Hound (Dog) Akita (Dog) Alaskan Malamute (Dog) Bichon Frise (Dog) Coton de Tulear (Dog) German Shepherd Dog (Dog) Leonberger (Dog) Poodle (Dog) Pug (Dog) Puli (Dog) Saluki (Dog) Samoyed (Dog) Schnauzer (Dog) Scottish Terrier (Dog) West Highland White Terrier (Dog) White Swiss Shepherd Dog (Dog) | Coat colour, white or cream | MFSD12 | missense | Naturally occurring variant | UU_Cfam_GSD_1.0 | 20 | NC_049241.1:g.56252402C>T | XM_038567816.1:c.151C>T | XP_038423744.1:p.(R51C) | rs22915955 | 2019 | 31117290 | The cDNA coordinate kindly provided by Tosso Leeb [19/05/23] and genomic coordinates were corrected by Claire Wade [30/05/24] ; the previously linked EVA ID (rs22915955) was removed as incorrect [30/05/2024] |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002197-9615: 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.
| 2023 | Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. : |
| Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7. | |
| 2022 | [No authors listed] : |
| Canine coat pigmentation genetics: a review. Anim Genet 53:474-475, 2022. Pubmed reference: 35510419. DOI: 10.1111/age.13185. | |
| Brancalion, L., Haase, B., Wade, C.M. : | |
| Canine coat pigmentation genetics: a review. Anim Genet 53:33-34, 2022. Pubmed reference: 34751460. DOI: 10.1111/age.13154. | |
| 2021 | Slavney, A.J., Kawakami, T., Jensen, M.K., Nelson, T.C., Sams, A.J., Boyko, A.R. : |
| Five genetic variants explain over 70% of hair coat pheomelanin intensity variation in purebred and mixed breed domestic dogs. PLoS One 16:e0250579, 2021. Pubmed reference: 34043658. DOI: 10.1371/journal.pone.0250579. | |
| 2019 | Hédan et al., Hédan, B., Cadieu, E., Botherel, N., Dufaure de Citres, C., Letko, A., Rimbault, M., Drögemüller, C., Jagannathan, V., Derrien, T., Schmutz, S., Leeb, T., André, C. : |
| Identification of a missense variant in MFSD12 involved in dilution of phaeomelanin leading to white or cream coat color in dogs. Genes (Basel) 10:386, 2019. Pubmed reference: 31117290. DOI: 10.3390/genes10050386. | |
| 2007 | Schmutz, SM., Berryere, TG. : |
| The genetics of cream coat color in dogs. J Hered 98:544-8, 2007. Pubmed reference: 17485734. DOI: 10.1093/jhered/esm018. | |
| Schmutz, SM., Berryere, TG. : | |
| Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet 38:539-49, 2007. Pubmed reference: 18052939. DOI: 10.1111/j.1365-2052.2007.01664.x. | |
| 2001 | Sponenberg, D.P., Rothschild, M.F. : |
| Genetics of coat colour and hair texture (chapter 4) The Genetics of the Dog (eds A. Runinsky and J. Sampson) CAB International :61-85, 2001. | |
| 1984 | Carver, E.A. : |
| Coat colour genetics of the German shepherd dog Journal of Heredity 75:247-252, 1984. DOI: 10.1093/oxfordjournals.jhered.a109926. | |
| 1941 | Iljin, N.A. : |
| Wolf-dog genetics Journal of Genetics 42:359-414, 1941. DOI: 10.1007/BF02982879. | |
| 1932 | Iljin, N.A. : |
| Genetics and Breeding of the Dog. Seljskohozgiz, Moscow , 1932. |
Edit History
- Created by Frank Nicholas on 23 May 2019
- Changed by Frank Nicholas on 23 May 2019
- Changed by Frank Nicholas on 24 May 2019
- Changed by Frank Nicholas on 28 May 2019
- Changed by Imke Tammen2 on 01 Jun 2021