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Genes2021; 12(12); 1985; doi: 10.3390/genes12121985

Identification of W13 in the American Miniature Horse and Shetland Pony Populations.

Abstract: Coat color is a trait of economic significance in horses. Variants in seven genes have been documented to cause white patterning in horses. Of the 34 variants that have been identified in KIT proto-oncogene, receptor tyrosine kinase (), 27 have only been reported in a single individual or family and thus not all are routinely offered for genetic testing. Therefore, to enable proper use of marker-assisted selection, determining breed specificity for these alleles is warranted. Screening 19 unregistered all-white Shetland ponies for 16 white patterning markers identified 14 individuals whose phenotype could not be explained by testing results. In evaluating other known dominant white variants, 14 horses were heterozygous for W13. W13 was previously only reported in two quarter horses and a family of Australian miniature horses. Genotyping known white spotting variants in 30 owner-reported white animals (25 Miniature Horses and five Shetland ponies) identified two additional American Miniature Horses. The estimated allele frequency of W13 in the American Miniature Horse was 0.0063 (79 , 1 ) and the allele was not detected in a random sample ( = 59) of Shetland ponies. No homozygous W13 individuals were identified and ponies had a similar all-white coat with pink skin phenotype, regardless of the other white spotting variants present, demonstrating that W13 results in a Mendelian inherited dominant white phenotype and homozygosity is likely lethal. These findings document the presence of W13 in the American Miniature Horse and Shetland pony populations at a low frequency and illustrate the importance of testing for this variant in additional breeds.
Publication Date: 2021-12-14 PubMed ID: 34946933PubMed Central: PMC8702037DOI: 10.3390/genes12121985Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

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The research discusses the identification of a specific variant linked to white coat color in horses, named W13, predominantly in American Miniature Horses and Shetland Ponies. The results showed the W13 variant has a dominant white phenotype and is likely lethal when homozygous.

Objective of the Research

The research aimed at identifying the breed specificity of the 34 genetic variants causing white patterning in horses. Among these, W13 variant was found to cause white coloration in horse coats. The identification of breed-specific alleles assists in marker-assisted selection for specific traits, like coat color.

Methodology of the Research

  • The researchers screened 19 unregistered all-white Shetland ponies for 16 white patterning markers.
  • They noticed that the phenotype of 14 ponies could not be explained by the testing results which urged them to evaluate other known dominant white variants.
  • After evaluation, 14 horses were found to be heterozygous for W13, a variant previously only reported in two quarter horses and a family of Australian mini horses.
  • To further confirm, white spotting variants were genotyped in 30 owner-reported white animals which included 25 Miniature Horses and five Shetland ponies.

Findings of the Research

  • Two additional American Miniature horses were identified as having the W13 variant.
  • The estimated allele frequency of W13 in the American Miniature Horse was 0.0063. The allele was not detected in a random sample of 59 Shetland ponies.
  • No homozygous W13 individuals were identified, suggesting homozygosity could possibly be lethal.
  • All the identified W13 individuals displayed a similar trait of all-white coat with pink skin phenotype, which indicated W13 results in a Mendelian inherited dominant white phenotype.
  • The research concluded that W13 is present in American miniature Horse and Shetland Pony populations at a low frequency and underscores the need for testing this variant in additional breeds.

Cite This Article

APA
Esdaile E, Kallenberg A, Avila F, Bellone RR. (2021). Identification of W13 in the American Miniature Horse and Shetland Pony Populations. Genes (Basel), 12(12), 1985. https://doi.org/10.3390/genes12121985

Publication

ISSN: 2073-4425
NlmUniqueID: 101551097
Country: Switzerland
Language: English
Volume: 12
Issue: 12
PII: 1985

Researcher Affiliations

Esdaile, Elizabeth
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.
Kallenberg, Angelica
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.
Avila, Felipe
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.
Bellone, Rebecca R
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.
  • Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.

MeSH Terms

  • Alleles
  • Animals
  • Biomarkers
  • Gene Frequency / genetics
  • Genetic Association Studies
  • Hair Color / genetics
  • Homozygote
  • Horses / genetics
  • Phenotype
  • Pigmentation / genetics
  • Proto-Oncogene Proteins c-kit / genetics

Conflict of Interest Statement

R.R.B., F.A., A.K., and E.E. are affiliated with the Veterinary Genetics Laboratory, a laboratory offering parentage and diagnostic DNA tests in horses and other species.

References

This article includes 37 references
  1. Hurst CC. On the inheritance of coat colour in horses.. Proc. R. Soc. Lond. B. 1906;77:388–394.
    doi: 10.1098/rspb.1906.0026google scholar: lookup
  2. Wilson J. The inheritance of coat colour in horses.. Sci. Proc. R. Dublin Soc. 1910;12:331–348.
    doi: 10.1007/BF01730018google scholar: lookup
  3. Sturtevant AH. On the inheritance of color in the American harness horse.. Biol. Bull. 1910;19:204–216.
    doi: 10.2307/1535965google scholar: lookup
  4. Anderson WS. The inheritance of coat color in horses.. Am. Nat. 1913;47:615–624.
    doi: 10.1086/279375google scholar: lookup
  5. Rieder S, Taourit S, Mariat D, Langlois B, Guérin G. Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus).. Mamm Genome 2001 Jun;12(6):450-5.
    doi: 10.1007/s003350020017pubmed: 11353392google scholar: lookup
  6. Marklund L, Moller MJ, Sandberg K, Andersson L. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses.. Mamm Genome 1996 Dec;7(12):895-9.
    doi: 10.1007/s003359900264pubmed: 8995760google scholar: lookup
  7. Wagner HJ, Reissmann M. New polymorphism detected in the horse MC1R gene.. Anim Genet 2000 Aug;31(4):289-90.
  8. Mariat D, Taourit S, Guérin G. A mutation in the MATP gene causes the cream coat colour in the horse.. Genet Sel Evol 2003 Jan-Feb;35(1):119-33.
    doi: 10.1186/1297-9686-35-1-119pmc: PMC2732686pubmed: 12605854google scholar: lookup
  9. Sevane N, Sanz CR, Dunner S. Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses.. Anim Genet 2019 Jun;50(3):275-278.
    doi: 10.1111/age.12784pubmed: 30968968google scholar: lookup
  10. Cook D, Brooks S, Bellone R, Bailey E. Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.. PLoS Genet 2008 Sep 19;4(9):e1000195.
  11. Imsland F, McGowan K, Rubin CJ, Henegar C, Sundström E, Berglund J, Schwochow D, Gustafson U, Imsland P, Lindblad-Toh K, Lindgren G, Mikko S, Millon L, Wade C, Schubert M, Orlando L, Penedo MC, Barsh GS, Andersson L. Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses.. Nat Genet 2016 Feb;48(2):152-8.
    doi: 10.1038/ng.3475pmc: PMC4731265pubmed: 26691985google scholar: lookup
  12. Tanaka J, Leeb T, Rushton J, Famula TR, Mack M, Jagannathan V, Flury C, Bachmann I, Eberth J, McDonnell SM, Penedo MCT, Bellone RR. Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.. Genes (Basel) 2019 Oct 19;10(10).
    doi: 10.3390/genes10100826pmc: PMC6827053pubmed: 31635058google scholar: lookup
  13. 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 Genet 2006 Oct 9;7:46.
    doi: 10.1186/1471-2156-7-46pmc: PMC1617113pubmed: 17029645google scholar: lookup
  14. Brooks SA, Bailey E. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.. Mamm Genome 2005 Nov;16(11):893-902.
    doi: 10.1007/s00335-005-2472-ypubmed: 16284805google scholar: lookup
  15. Brooks SA, Lear TL, Adelson DL, Bailey E. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.. Cytogenet Genome Res 2007;119(3-4):225-30.
    doi: 10.1159/000112065pubmed: 18253033google scholar: lookup
  16. Haase B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, Alaeddine F, Mevissen M, Burger D, Poncet PA, Rieder S, Leeb T. Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.. PLoS Genet 2007 Nov;3(11):e195.
  17. Haase B, Brooks SA, Tozaki T, Burger D, Poncet PA, Rieder S, Hasegawa T, Penedo C, Leeb T. Seven novel KIT mutations in horses with white coat colour phenotypes.. Anim Genet 2009 Oct;40(5):623-9.
  18. Holl H, Brooks S, Bailey E. De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern.. Anim. Genet. 2010;41:196–198.
  19. Haase B, Rieder S, Tozaki T, Hasegawa T, Penedo MC, Jude R, Leeb T. Five novel KIT mutations in horses with white coat colour phenotypes.. Anim Genet 2011 Jun;42(3):337-9.
  20. Hauswirth R, Jude R, Haase B, Bellone RR, Archer S, Holl H, Brooks SA, Tozaki T, Penedo MC, Rieder S, Leeb T. Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.. Anim Genet 2013 Dec;44(6):763-5.
    doi: 10.1111/age.12057pubmed: 23659293google scholar: lookup
  21. Haase B, Jagannathan V, Rieder S, Leeb T. A novel KIT variant in an Icelandic horse with white-spotted coat colour.. Anim Genet 2015 Aug;46(4):466.
    doi: 10.1111/age.12313pubmed: 26059442google scholar: lookup
  22. Dürig N, Jude R, Holl H, Brooks SA, Lafayette C, Jagannathan V, Leeb T. Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes.. Anim Genet 2017 Aug;48(4):483-485.
    doi: 10.1111/age.12556pubmed: 28444912google scholar: lookup
  23. Holl HM, Brooks SA, Carpenter ML, Bustamante CD, Lafayette C. A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes.. Anim Genet 2017 Aug;48(4):497-498.
    doi: 10.1111/age.12554pubmed: 28378922google scholar: lookup
  24. Capomaccio S, Milanesi M, Nocelli C, Giontella A, Verini-Supplizi A, Branca M, Silvestrelli M, Cappelli K. Splicing site disruption in the KIT gene as strong candidate for white dominant phenotype in an Italian Trotter.. Anim Genet 2017 Dec;48(6):727-728.
    doi: 10.1111/age.12590pubmed: 28856698google scholar: lookup
  25. Hoban R, Castle K, Hamilton N, Haase B. Novel KIT variants for dominant white in the Australian horse population.. Anim Genet 2018 Feb;49(1):99-100.
    doi: 10.1111/age.12627pubmed: 29333746google scholar: lookup
  26. Hug P, Jude R, Henkel J, Jagannathan V, Leeb T. A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.. Anim Genet 2019 Dec;50(6):761-763.
    doi: 10.1111/age.12840pubmed: 31463981google scholar: lookup
  27. Martin K, Patterson Rosa L, Vierra M, Foster G, Brooks SA, Lafayette C. De novo mutation of KIT causes extensive coat white patterning in a family of Berber horses.. Anim Genet 2021 Feb;52(1):135-137.
    doi: 10.1111/age.13017pubmed: 33111383google scholar: lookup
  28. Patterson Rosa L, Martin K, Vierra M, Foster G, Lundquist E, Brooks SA, Lafayette C. Two Variants of KIT Causing White Patterning in Stock-Type Horses.. J Hered 2021 Aug 25;112(5):447-451.
    doi: 10.1093/jhered/esab033pubmed: 34223905google scholar: lookup
  29. Metallinos DL, Bowling AT, Rine J. A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease.. Mamm Genome 1998 Jun;9(6):426-31.
    doi: 10.1007/s003359900790pubmed: 9585428google scholar: lookup
  30. Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S, Sandmeyer L, Ludwig A, Foerster D, Pruvost M, Reissmann M, Bortfeldt R, Adelson DL, Lim SL, Nelson J, Haase B, Engensteiner M, Leeb T, Forsyth G, Mienaltowski MJ, Mahadevan P, Hofreiter M, Paijmans JL, Gonzalez-Fortes G, Grahn B, Brooks SA. Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.. PLoS One 2013;8(10):e78280.
  31. Hauswirth R, Haase B, Blatter M, Brooks SA, Burger D, Drögemüller C, Gerber V, Henke D, Janda J, Jude R, Magdesian KG, Matthews JM, Poncet PA, Svansson V, Tozaki T, Wilkinson-White L, Penedo MC, Rieder S, Leeb T. Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.. PLoS Genet 2012;8(4):e1002653.
  32. Henkel J, Lafayette C, Brooks SA, Martin K, Patterson-Rosa L, Cook D, Jagannathan V, Leeb T. Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness.. Anim Genet 2019 Apr;50(2):172-174.
    doi: 10.1111/age.12762pubmed: 30644113google scholar: lookup
  33. Magdesian KG, Tanaka J, Bellone RR. A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse.. J Hered 2020 May 20;111(3):287-293.
    doi: 10.1093/jhered/esaa009pmc: PMC7238438pubmed: 32242630google scholar: lookup
  34. Holl HM, Brooks SA, Archer S, Brown K, Malvick J, Penedo MC, Bellone RR. Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting.. Anim Genet 2016 Feb;47(1):91-101.
    doi: 10.1111/age.12375pubmed: 26568529google scholar: lookup
  35. Rosengren Pielberg G, Golovko A, Sundström E, Curik I, Lennartsson J, Seltenhammer MH, Druml T, Binns M, Fitzsimmons C, Lindgren G, Sandberg K, Baumung R, Vetterlein M, Strömberg S, Grabherr M, Wade C, Lindblad-Toh K, Pontén F, Heldin CH, Sölkner J, Andersson L. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse.. Nat Genet 2008 Aug;40(8):1004-9.
    doi: 10.1038/ng.185pubmed: 18641652google scholar: lookup
  36. Mack M, Kowalski E, Grahn R, Bras D, Penedo MCT, Bellone R. Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino Horses.. G3 (Bethesda) 2017 Aug 7;7(8):2799-2806.
    doi: 10.1534/g3.117.043786pmc: PMC5555483pubmed: 28655738google scholar: lookup
  37. Locke MM, Penedo MC, Bricker SJ, Millon LV, Murray JD. Linkage of the grey coat colour locus to microsatellites on horse chromosome 25.. Anim Genet 2002 Oct;33(5):329-37.

Citations

This article has been cited 2 times.
  1. Liu X, Peng Y, Zhang X, Wang X, Chen W, Kou X, Liang H, Ren W, Khan MZ, Wang C. Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes. Animals (Basel) 2024 Jun 17;14(12).
    doi: 10.3390/ani14121802pubmed: 38929421google scholar: lookup
  2. McFadden A, Vierra M, Martin K, Brooks SA, Everts RE, Lafayette C. Spotting the Pattern: A Review on White Coat Color in the Domestic Horse. Animals (Basel) 2024 Jan 30;14(3).
    doi: 10.3390/ani14030451pubmed: 38338094google scholar: lookup