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Genes2020; 11(6); doi: 10.3390/genes11060680

Coat Color Roan Shows Association with KIT Variants and No Evidence of Lethality in Icelandic Horses.

Abstract: Roan (Rn) horses show a typical seasonal change of color. Their body is covered with colored and white hair. We performed a descriptive statistical analysis of breeding records of Icelandic horses to challenge the hypothesis of roan being lethal in utero under homozygous condition. The roan to non-roan ratio of foals from roan × roan matings revealed homozygous roan Icelandic horses to be viable. Even though roan is known to be inherited in a dominant mode and epistatic to other coat colors, the causative mutation is still unknown. Nevertheless, an association between roan phenotype and the KIT gene was shown for different horse breeds. In the present study, we identified KIT variants by Sanger sequencing, and show that KIT is also associated with roan in the Icelandic horse breed.
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Publication Date: 2020-06-22 PubMed ID: 32580410PubMed Central: PMC7348759DOI: 10.3390/genes11060680Google Scholar: Lookup
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  • Journal Article

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This research investigates the genetic factors responsible for the unique coat color exhibited by Roan horses, primarily those of the Icelandic breed. The study refutes earlier beliefs that the roan color phenotype could lead to in utero fatalities when inherited in a homozygous state. It also points out an association between the roan coat color and the KIT gene.

Objective and Methodology

The aim of the research was to unravel the genetics behind the unique coat color seen in roan horses, with a focus on the Icelandic breed. Roan horses have a distinct coat color, characterized by a mix of colored and white hair. To debunk the hypothesis that this trait might be lethal in utero when present in its homozygous form, the authors performed a statistical analysis on Icelandic horse breeding records. They specifically examined the ratio of roan to non-roan foals resulting from roan × roan matings.

Findings

  • The analysis revealed that homozygous roan Icelandic horses are viable, debunking the hypothesis that the roan color assortment is lethal in utero when exhibited in its homozygous form.
  • This finding was significant as the roan trait is inherited dominantly and is often ‘epistatic’—it masks the effects of other coat color genes. Yet, the specific genetic mutation causing the roan phenotype remained unknown.
  • However, the researchers found an association between the roan phenotype and the KIT gene. The KIT gene has been associated with color patterns in various horse breeds, but its link with the roan phenotype in Icelandic horses was hitherto unknown.
  • The authors identified variations in the KIT gene through Sanger sequencing, indicating the role of this gene in contributing to the roan coat color in the Icelandic horse breed.

Significance

The study thus sheds light on the genetic underpinnings of the unique roan coat color in horses, especially in the Icelandic breed. By debunking a long-standing hypothesis and pointing out the role of the KIT gene, the research paves the way for more in-depth genetic studies on coat color variation in horses. This can have substantial implications in the world of horse breeding, genetics, and veterinary science.

Cite This Article

APA
Voß K, Tetens J, Thaller G, Becker D. (2020). Coat Color Roan Shows Association with KIT Variants and No Evidence of Lethality in Icelandic Horses. Genes (Basel), 11(6). https://doi.org/10.3390/genes11060680

Publication

Genes
ISSN: 2073-4425
NlmUniqueID: 101551097
Country: Switzerland
Language: English
Volume: 11
Issue: 6

Researcher Affiliations

Voß, Katharina
  • Institute of Animal Breeding and Husbandry, University of Kiel, Olshausenstraße 40, 24098 Kiel, Germany.
Tetens, Julia
  • Institute of Animal Breeding and Husbandry, University of Kiel, Olshausenstraße 40, 24098 Kiel, Germany.
Thaller, Georg
  • Institute of Animal Breeding and Husbandry, University of Kiel, Olshausenstraße 40, 24098 Kiel, Germany.
Becker, Doreen
  • Institute of Genome Biology, Leibniz Institute for Farm Animal Biology, Wilhelm-Stahl-Allee 2, 18196 Dummerstorf, Germany.

MeSH Terms

  • Animals
  • Breeding
  • Color
  • Genes, Lethal / genetics
  • Hair Color / genetics
  • Horse Diseases / genetics
  • Horse Diseases / pathology
  • Horses / genetics
  • Mutation / genetics
  • Phenotype
  • Proto-Oncogene Proteins c-kit / genetics

Conflict of Interest Statement

The authors declare no conflict of interest.

References

This article includes 39 references
  1. Castle W.E.. The Abc of color inheritance in horses.. Genetics 1948;33:22–35.
    pmc: PMC1209395pubmed: 17247268
  2. Hintz H.F., Van Vleck L.D.. Lethal dominant roan in horses.. J. Hered. 1979;70:145–146.
    doi: 10.1093/oxfordjournals.jhered.a109213google scholar: lookup
  3. Andersson L., Sandberg K.. A linkage group composed of three coat color genes and three serum protein loci in horses.. J. Hered. 1982;73:91–94.
    pubmed: 7096983
  4. Sponenberg D.P., Harper H.T., Harper A.L.. Direct evidence for linkage of roan and extension loci in Belgian horses.. J. Hered. 1984;75:413–414.
    doi: 10.1093/oxfordjournals.jhered.a109968pubmed: 6481131google scholar: lookup
  5. Marklund S., Moller M., Sandberg K., Andersson L.. Close association between sequence polymorphism in the KIT gene and the roan coat color in horses.. Mamm. Genome. 1999;10:283–288.
    doi: 10.1007/s003359900987pubmed: 10051325google scholar: lookup
  6. Brooks S.A., Lear T.L., Adelson D.L., Bailey E.. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.. Cytogenet Genome Res. 2007;119:225–230.
    doi: 10.1159/000112065pubmed: 18253033google scholar: lookup
  7. Brooks S.A., Bailey E.. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.. Mamm. Genome. 2005;16:893–902.
    doi: 10.1007/s00335-005-2472-ypubmed: 16284805google scholar: lookup
  8. Haase B., Jude R., Brooks S.A., Leeb T.. An equine chromosome 3 inversion is associated with the tobiano spotting pattern in German horse breeds.. Anim. Genet. 2008;39:306–309.
    doi: 10.1111/j.1365-2052.2008.01715.xpubmed: 18410476google scholar: lookup
  9. Haase B., Brooks S.A., Tozaki T., Burger D., Poncet P.A., Rieder S., Hasegawa T., Penedo C., Leeb T.. Seven novel KIT mutations in horses with white coat colour phenotypes.. Anim. Genet. 2009;40:623–629.
    doi: 10.1111/j.1365-2052.2009.01893.xpubmed: 19456317google scholar: lookup
  10. Ezoe K., Holmes S.A., Ho L., Bennett C.P., Bolognia J.L., Brueton L., Burn J., Falabella R., Gatto E.M., Ishii N.. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.. Am. J. Hum. Genet. 1995;56:58–66.
    pmc: PMC1801299pubmed: 7529964
  11. De Sepulveda P., Peyrieras N., Panthier J.J.. Instability at the W/c-kit locus in mice: Analysis of melanocyte cell lines derived from reversion spots.. Oncogene 1994;9:2655–2661.
    pubmed: 7520149
  12. Duttlinger R., Manova K., Berrozpe G., Chu T.Y., DeLeon V., Timokhina I., Chaganti R.S., Zelenetz A.D., Bachvarova R.F., Besmer P.. The Wsh and Ph mutations affect the c-kit expression profile: c-kit misexpression in embryogenesis impairs melanogenesis in Wsh and Ph mutant mice.. Proc. Natl. Acad. Sci. USA. 1995;92:3754–3758.
    doi: 10.1073/pnas.92.9.3754pmc: PMC42040pubmed: 7537375google scholar: lookup
  13. Geissler E.N., Ryan M.A., Housman D.E.. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene.. Cell 1988;55:185–192.
    doi: 10.1016/0092-8674(88)90020-7pubmed: 2458842google scholar: lookup
  14. Grilz-Seger G., Reiter S., Neuditschko M., Wallner B., Rieder S., Leeb T., Jagannathan V., Mesaric M., Cotman M., Pausch H.. A genome-wide association analysis in noriker horses identifies a SNP associated with roan coat color.. J. Equine Vet. Sci. 2020;88:102950.
    doi: 10.1016/j.jevs.2020.102950pubmed: 32303326google scholar: lookup
  15. Sponenberg D.P., Bellone R.R.. Equine Color Genetics.. 4th ed. John Wiley & Sons; Hoboken, NJ, USA: 2017.
  16. Yokohama M., Nozawa K.. An additional analysis on lethality of roan allele in Hokkaido native horses.. J. Agri. Sci. Tokyo Univ. Agric. 2004;49:147–149.
  17. Yokohama M., Nomura H., Yasuhara T., Nozawa K.. Lethal dominant roan is not found in Hokkaido native horses.. J. Agric. Sci. 2002;47:98–101.
  18. Miller S.A., Dykes D.D., Polesky H.F.. A simple salting out procedure for extracting DNA from human nucleated cells.. Nucleic Acids Res. 1988;16:1215.
    doi: 10.1093/nar/16.3.1215pmc: PMC334765pubmed: 3344216google scholar: lookup
  19. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A., Bender D., Maller J., Sklar P., De Bakker P.I., Daly M.J.. PLINK: A tool set for whole-genome association and population-based linkage analyses.. Am. J. Hum. Genet. 2007;81:559–575.
    doi: 10.1086/519795pmc: PMC1950838pubmed: 17701901google scholar: lookup
  20. Thiruvenkadan A.K., Kandasamy N., Panneerselvam S.. Coat colour inheritance in horses.. Livest. Sci. 2008;117:109–129.
    doi: 10.1016/j.livsci.2008.05.008google scholar: lookup
  21. Terry R.B., Archer S., Brooks S., Bernoco D., Bailey E.. Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1.. Anim. Genet. 2004;35:134–137.
    doi: 10.1111/j.1365-2052.2004.01113.xpubmed: 15025575google scholar: lookup
  22. Sponenberg D.P., Carr G., Simak E., Schwink K.. The inheritance of the leopard complex of spotting patterns in horses.. J. Hered. 1990;81:323–331.
    doi: 10.1093/oxfordjournals.jhered.a110997pubmed: 2177073google scholar: lookup
  23. Neves A.P., Schwengber E.B., Albrecht F.F., Isola J.V., De Salles van der Linden L.. Beyond fifty shades: The genetics of horse colors.. In: Abubakar M., editor. Trends and Advances in Veterinary Genetics. IntechOpen; London, UK: 2017.
    doi: 10.5772/65848google scholar: lookup
  24. Garcia-Ruiz A., Wiggans G.R., Ruiz-Lopez F.J.. Pedigree verification and parentage assignment using genomic information in the Mexican Holstein population.. J. Dairy Sci. 2019;2:1806–1810.
    doi: 10.3168/jds.2018-15076pubmed: 30591329google scholar: lookup
  25. Sanders K., Bennewitz J., Kalm E.. Wrong and missing sire information affects genetic gain in the Angeln dairy cattle population.. J. Dairy Sci. 2006;89:315–321.
    doi: 10.3168/jds.S0022-0302(06)72096-3pubmed: 16357295google scholar: lookup
  26. Visscher P.M., Woolliams J.A., Smith D., Williams J.L.. Estimation of pedigree errors in the UK dairy population using microsatellite markers and the impact on selection.. J. Dairy Sci. 2002;85:2368–2375.
    doi: 10.3168/jds.S0022-0302(02)74317-8pubmed: 12362470google scholar: lookup
  27. Ron M., Domochovsky R., Golik M., Seroussi E., Ezra E., Shturman C., Weller J.I.. Analysis of vaginal swabs for paternity testing and marker-assisted selection in cattle.. J. Dairy Sci. 2003;86:1818–1820.
    doi: 10.3168/jds.S0022-0302(03)73767-9pubmed: 12778592google scholar: lookup
  28. Seyedabadi H.R., Savar Sofla S.. Microsatellite analysis for parentage verification and genetic characterization of the Turkmen horse population.. Kafkas Univ. Vet. Fak. 2017;23:467–471.
    doi: 10.9775/kvfd.2016.17096google scholar: lookup
  29. Sereno F., Sereno J.R.B., Vega-Pla J.L., Delado J.V.. DNA testing for parentage verification in a conservation nucleus of Pantaneiro horse.. Genet. Mol. Biol. 2008;31:64–67.
    doi: 10.1590/S1415-47572008000100013google scholar: lookup
  30. Wright S.. Color inheritance in mammals: VI, Cattle—Explanation of reds, roans, whites in short-horns long a matter of dispute—Annlysis shows that only a single pair of mendelian factors can be involved aside from minor variations—Colors in general determined by combination of independent sets of allelomorphs and not by polygamous factors—Dun the dilute form of black.. J. Hered. 1917;8:521–527.
    doi: 10.1093/oxfordjournals.jhered.a111676google scholar: lookup
  31. Babcock E.B., Clausen R.E.. Genetics in Relation to Agriculture.. McGraw-Hill; New York, NY, USA: 1918.
  32. Butaye R.. Inheritance of coat colour in Belgian horses.. Vlaams Dier. Tijdshrift. 1974;43:464–486.
  33. Wagner H.J., Reissmann M.. New polymorphism detected in the horse MC1R gene.. Anim. Genet. 2000;31:289–290.
    doi: 10.1046/j.1365-2052.2000.00655.xpubmed: 11086549google scholar: lookup
  34. Haase B., Brooks S.A., Schlumbaum A., Azor P.J., Bailey E., Alaeddine F., Mevissen M., Burger D., Poncet P.A., Rieder S.. Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.. PLoS Genet. 2007;3:e195.
    doi: 10.1371/journal.pgen.0030195pmc: PMC2065884pubmed: 17997609google scholar: lookup
  35. 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. 2016;57:519–525.
    doi: 10.1007/s13353-016-0352-7pubmed: 27194311google scholar: lookup
  36. Clark L.A., Wahl J.M., Rees C.A., Murphy K.E.. Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.. Proc. Natl. Acad. Sci. USA. 2006;103:1376–1381.
    doi: 10.1073/pnas.0506940103pmc: PMC1360527pubmed: 16407134google scholar: lookup
  37. Martin P.M., Palhiere I., Ricard A., Tosser-Klopp G., Rupp R.. Genome wide association study identifies new loci associated with undesired coat color phenotypes in Saanen Goats.. PLoS ONE. 2016;11:e0152426.
    doi: 10.1371/journal.pone.0152426pmc: PMC4816504pubmed: 27030980google scholar: lookup
  38. Jivanji S., Worth G., Lopdell T.J., Yeates A., Couldrey C., Reynolds E., Tiplady K., McNaughton L., Johnson T.J.J., Davis S.R.. Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle.. Genet. Sel. Evol. 2019;51:62.
    doi: 10.1186/s12711-019-0506-2pmc: PMC6839108pubmed: 31703548google scholar: lookup
  39. Hong E.P., Park J.W.. Sample size and statistical power calculation in genetic association studies.. Genom. Inform. 2012;10:117–122.
    doi: 10.5808/GI.2012.10.2.117pmc: PMC3480678pubmed: 23105939google scholar: lookup

Citations

This article has been cited 5 times.
  1. Everts RE, Caron R, Foster G, McLoone K, Simiele L, Martin K, Brooks SA, Lafayette C. Identification of a Novel Haplotype Associated with Roan Coat Color in American Quarter Horses. Animals (Basel) 2025 Aug 14;15(16).
    doi: 10.3390/ani15162386pubmed: 40867714google scholar: lookup
  2. Everts RE, Caron R, Foster G, McLoone K, Martin K, Brooks SA, Lafayette C. Identification of Two Genetic Haplotypes Associated with the Roan Coat Color in the American Quarter Horse and Other Equine Breeds. Animals (Basel) 2025 Jun 9;15(12).
    doi: 10.3390/ani15121705pubmed: 40564257google scholar: lookup
  3. 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
  4. Durward-Akhurst SA, Marlowe JL, Schaefer RJ, Springer K, Grantham B, Carey WK, Bellone RR, Mickelson JR, McCue ME. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep 2024 Apr 10;14(1):8396.
    doi: 10.1038/s41598-024-57872-8pubmed: 38600096google scholar: lookup
  5. Dong H, Dong Z, Wang F, Wang G, Luo X, Lei C, Chen J. Whole Genome Sequencing Provides New Insights Into the Genetic Diversity and Coat Color of Asiatic Wild Ass and Its Hybrids. Front Genet 2022;13:818420.
    doi: 10.3389/fgene.2022.818420pubmed: 35646088google scholar: lookup
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