OMIA 001344-9796 : Coat colour, cream dilution in Equus caballus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606574

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2003

Species-specific name: Palomino

Species-specific description: In 2003, Mariat et al. showed that this classic coat-colour locus encodes membrane-associated transporter protein (MATP), now renamed SLC45A2, and that the dilution allele in horses is due to a missense mutation [FN 16 Oct 2003]

Mapping: Mariat et al. (2003) showed that the candidate gene MATP is completely linked (theta = 0) to the equine cream locus.

Molecular basis: Building on the strong evidence from mapping (see Mapping section above), Mariat et al. (2003) identified a missense G457A transition in the equine MATP gene (now called SLC45A2), giving rise to a D153N amino acid substitution in cream horses.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC45A2 solute carrier family 45, member 2 Equus caballus 21 NC_009164.3 (31683230..31717264) SLC45A2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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, cream dilution SLC45A2 missense EquCab2 21 g.30666626G>A c.457G>A p.D153N 2003 12605854 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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 Martin, L., Damaso, N., Mills, D. :
Detection of single nucleotide polymorphisms (SNP) in equine coat color genes using SNaPshot(TM) Multiplex kit or Pluronic F-108 tri-block copolymer and capillary electrophoresis. Electrophoresis :, 2016. Pubmed reference: 27542347. DOI: 10.1002/elps.201600245.
Reissmann, M., Musa, L., Zakizadeh, S., Ludwig, A. :
Distribution of coat-color-associated alleles in the domestic horse population and Przewalski's horse. J Appl Genet 57:519-525, 2016. Pubmed reference: 27194311. DOI: 10.1007/s13353-016-0352-7.
2010 Bellone, RR. :
Pleiotropic effects of pigmentation genes in horses. Anim Genet 41 Suppl 2:100-10, 2010. Pubmed reference: 21070283. DOI: 10.1111/j.1365-2052.2010.02116.x.
Li, B., He, XL., Zhao, YP., Wang, XJ., Manglai, D., Zhang, YR. :
[Molecular basis and applicability in equine color genetics]. Yi Chuan 32:1133-40, 2010. Pubmed reference: 21513164.
2009 Kakoi, H., Tozaki, T., Nagata, S., Gawahara, H., Kijima-Suda, I. :
Development of a method for simultaneously genotyping multiple horse coat colour loci and genetic investigation of basic colour variation in Thoroughbred and Misaki horses in Japan. J Anim Breed Genet 126:425-31, 2009. Pubmed reference: 19912416. DOI: 10.1111/j.1439-0388.2009.00841.x.
Lewin, H.A. :
Genetics. It's a bull's market. Science 324:478-9, 2009. Pubmed reference: 19390037. DOI: 10.1126/science.1173880.
Rieder, S. :
Molecular tests for coat colours in horses. J Anim Breed Genet 126:415-24, 2009. Pubmed reference: 19912415. DOI: 10.1111/j.1439-0388.2009.00832.x.
2008 Royo, L.J., Fernández, I., Azor, P.J., Alvarez, I., Pérez-Pardal, L., Goyache, F. :
Technical note: a novel method for routine genotyping of horse coat color gene polymorphisms. J Anim Sci 86:1291-5, 2008. Pubmed reference: 18310485. DOI: 10.2527/jas.2007-0498.
2003 Mariat, D., Taourit, S., Guerin, G. :
A mutation in the MATP gene causes the cream coat colour in the horse Genetics Selection Evolution 35:119-33, 2003. Pubmed reference: 12605854. DOI: 10.1051/gse:2002039.
2001 Locke, M.M., Ruth, L.S., Millon, L.V., Penedo, M.C.T., Murray, J.D., Bowling, A.T. :
The cream dilution gene, responsible for the palomino and buckskin coat colours, maps to horse chromosome 21 Animal Genetics 32:340-343, 2001. Pubmed reference: 11736803.
1974 Adalsteinsson, S. :
Inheritance of the palomino color in Icelandic horses. J Hered 65:15-20, 1974. Pubmed reference: 4847742.
1961 Castle, W.E., Singleton, W.R. :
The palomino horse. Genetics 46:1143-50, 1961. Pubmed reference: 13877241.
1951 Castle, W.E., King, F.L. :
New evidence on the genetics of the Palomino horse Journal of Heredity 42:60-64, 1951. Pubmed reference: 14832452.
1948 Castle, W.E. :
The Abc of Color Inheritance in Horses. Genetics 33:22-35, 1948. Pubmed reference: 17247268.
1946 Castle, W.E. :
Genetics of the Palomino horse; confirmation of the Salisbury-Britton hypothesis. J Hered 37:35-38, 1946. Pubmed reference: 21025138.

Edit History


  • Created by Frank Nicholas on 12 Sep 2010
  • Changed by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 14 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Sep 2012
  • Changed by Frank Nicholas on 06 Jan 2013
  • Changed by Frank Nicholas on 28 Sep 2015