OMIA 001438-9796 : Coat colour, silver in Equus caballus

In other species: domestic cat

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2006

Species-specific name: Silver dapple

Species-specific symbol: Z

Mapping: PMEL17 is located on ECA6q23

Molecular basis: Brunberg et al. (2006) reported "a missense mutation in exon 11 [of PMEL17] changing the second amino acid in the cytoplasmic region from arginine to cysteine (Arg618Cys . . . showed complete association with the Silver phenotype across multiple horse breeds, and was not found among non-Silver horses with one clear exception; a chestnut colored individual that had several Silver offspring when mated to different non-Silver stallions also carried the exon 11 mutation."

Andersson et al. (2013) concluded that this same mutation is causal for Multiple Congenital Ocular Anomalies (MCOA); see OMIA OMIA 000733-9796, i.e. the Arg618Cys (now Arg625Cys) mutation in PMEL17 is pleiotropic.

PMEL17, also known as SILV, is now known as PMEL.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PMEL premelanosome protein Equus caballus 6 NC_009149.3 (74578149..74569524) PMEL 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
American Miniature Horse Icelandic Rocky Mountain Coat colour, silver AND Multiple congenital ocular anomalies PMEL missense g.73665304C>T p.R625C 2006 17029645

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 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.
2013 Andersson, L.S., Wilbe, M., Viluma, A., Cothran, G., Ekesten, B., Ewart, S., Lindgren, G. :
Equine Multiple Congenital Ocular Anomalies and Silver Coat Colour Result from the Pleiotropic Effects of Mutant PMEL. PLoS One 8:e75639, 2013. Pubmed reference: 24086599. DOI: 10.1371/journal.pone.0075639.
2011 Watt, B., Tenza, D., Lemmon, M.A., Kerje, S., Raposo, G., Andersson, L., Marks, M.S. :
Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathogenic. PLoS Genet 7:e1002286, 2011. Pubmed reference: 21949659. DOI: 10.1371/journal.pgen.1002286.
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 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.
2007 Reissmann, M., Bierwolf, J., Brockmann, GA. :
Two SNPs in the SILV gene are associated with silver coat colour in ponies. Anim Genet 38:1-6, 2007. Pubmed reference: 17257181. DOI: 10.1111/j.1365-2052.2006.01553.x.
2006 Brunberg, E., Andersson, L., Cothran, G., Sandberg, K., Mikko, S., Lindgren, G. :
A missense mutation in PMEL17 is associated with the Silver coat color in the horse. BMC Genetics 7:46, 2006. Pubmed reference: 17029645. DOI: 10.1186/1471-2156-7-46.

Edit History


  • Created by Frank Nicholas on 13 Sep 2010
  • Changed by Frank Nicholas on 10 Aug 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 13 Oct 2013
  • Changed by Frank Nicholas on 12 Dec 2017
  • Changed by Frank Nicholas on 29 Jan 2018