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The Journal of heredity2021; 112(5); 436-442; doi: 10.1093/jhered/esab034

Genetic Background of the Polish Primitive Horse (Konik) Coat Color Variation-New Insight into Dun Dilution Phenotypic Effect.

Abstract: Only the blue dun coat color, produced by the action of the dun allele on the background of a black base coat, is officially permitted in the Polish primitive horse (PPH, Konik) breed, yet the population is not visually homogenous and various coat color shades occur. Herein, the molecular background of PPH coat color was studied based on genotyping of known causative variants in equine coat color-related genes (ASIP, MC1R, TBX3, SLC36A1, SLC45A2, PMEL17, and RALY). Additionally, screening for the new polymorphisms was conducted for the ASIP gene coding sequence and the TBX3 1.6-kb insert (associated with the dun dilution). We did not observe the champagne, silver, or cream color dilution variants in the PPH breed. A significant association (P < 0.01) was recorded for the genotype in TBX3 gene 1.6 kb in/del and the degree of dun coat dilution, demonstrating that the dominant action of the dun mutation is not fully penetrant. In addition to the effect of the 1.6 kb in/del zygosity, variants within the TBX3 insert were significantly associated with PPH coat color variability (P < 0.01), suggesting the presence of an additional allele at this locus. Finally, we identified a high frequency (35%) of genetically bay dun-colored PPH individuals that are officially recorded as blue (black base coat) duns. We propose that the difficulty in distinguishing these 2 phenotypes visually is due to an independent locus upstream of the ASIP gene, which was recently described as darkening the typical bay pigmentation shade.
Publication Date: 2021-08-26 PubMed ID: 34432873DOI: 10.1093/jhered/esab034Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

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This research article investigates the genetic basis for coat color variation in the Polish primitive horse (PPH, Konik) breed. Although only blue dun coat color is officially permitted for this breed, the researchers found a high prevalence of genetically bay dun-colored horses, as well as evidence of other genetic variants affecting coat color.

Introduction and Background

  • The Polish primitive horse, also known as the Konik, is a breed of horse that, officially, only has the blue dun color, caused by the action of the dun allele on a black base coat.
  • Despite this official rule, there is significant variation in coat color within the breed.
  • The researchers wanted to understand the genetic basis for this variation. Specifically, they looked at known genes related to coat color (ASIP, MC1R, TBX3, SLC36A1, SLC45A2, PMEL17, and RALY) and screened for new genetic variants in the ASIP gene and a region of the TBX3 gene associated with dun dilution.

Results and Findings

  • The researchers found that there was a significant relationship between the TBX3 gene and the degree of dun coat dilution, suggesting that the gene’s effect on dun color may be more complex than previously understood, with an additional allele potentially contributing to color variability.
  • A large number (35%) of the PPH horses recorded as having a blue dun coat actually had a genetically bay dun color. This discrepancy is likely due to difficulty in distinguishing the two types visually, and might also be influenced by an independent locus upstream of the ASIP gene, which is known to darken the typical bay pigmentation shade.
  • No evidence was found for some other coat color dilution variants (champagne, silver, or cream) in the PPH breed.

Conclusion

  • This research provides new insight into the genetics of coat color in the Polish primitive horse breed, identifying additional genetic factors that could account for the observed variation in coat color.
  • It also highlights the discrepancy between the official breed standard and the actual genetic coloration observed, raising questions about breed classification and the accuracy of visual phenotype recording.

Cite This Article

APA
Cieslak J, Brooks SA, Wodas L, Mantaj W, Borowska A, Sliwowska JH, Ziarniak K, Mackowski M. (2021). Genetic Background of the Polish Primitive Horse (Konik) Coat Color Variation-New Insight into Dun Dilution Phenotypic Effect. J Hered, 112(5), 436-442. https://doi.org/10.1093/jhered/esab034

Publication

ISSN: 1465-7333
NlmUniqueID: 0375373
Country: United States
Language: English
Volume: 112
Issue: 5
Pages: 436-442

Researcher Affiliations

Cieslak, Jakub
  • Horse Breeding Unit, Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637 Poznan,Poland.
Brooks, Samantha Ann
  • Department of Animal Sciences, UF Genetics Institute, University of Florida, Gainesville, FL 32611-0910, USA.
Wodas, Lukasz
  • Horse Breeding Unit, Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637 Poznan,Poland.
Mantaj, Weronika
  • Laboratory of Neurobiology, Department of Zoology, Poznan University of Life Sciences, 60-625 Poznan, Poland (Sliwowska and Ziarniak).
Borowska, Alicja
  • Horse Breeding Unit, Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637 Poznan,Poland.
Sliwowska, Joanna Helena
  • Laboratory of Neurobiology, Department of Zoology, Poznan University of Life Sciences, 60-625 Poznan, Poland (Sliwowska and Ziarniak).
Ziarniak, Kamil
  • Laboratory of Neurobiology, Department of Zoology, Poznan University of Life Sciences, 60-625 Poznan, Poland (Sliwowska and Ziarniak).
Mackowski, Mariusz
  • Horse Breeding Unit, Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637 Poznan,Poland.
  • Horse Genetic Markers Laboratory, Poznan University of Life Sciences, 60-637 Poznan, Poland (Mackowski).

MeSH Terms

  • Alleles
  • Animals
  • Genetic Background
  • Hair Color / genetics
  • Horses / genetics
  • Phenotype
  • Poland

Citations

This article has been cited 5 times.
  1. An T, Dugarjaviin M. Differential Expression and Analysis of TBX3 Gene in Skin Tissues of Dun Mongolian Horses with and Without Bider Markings. Animals (Basel) 2026 Jan 18;16(2).
    doi: 10.3390/ani16020297pubmed: 41594486google scholar: lookup
  2. Jafari H, Abebe BK, Cong L, Ahmed Z, Zhaofei W, Sun M, Muhatai G, Chuzhao L, Dang R. Review: Genomic insights into the adaptive traits and stress resistance in modern horses. Stress Biol 2026 Jan 12;6(1):5.
    doi: 10.1007/s44154-025-00274-1pubmed: 41521281google scholar: lookup
  3. An T, Dugarjaviin M, Han H. Expression and Analysis of TBX3 Gene in the Skin from Three Locations on Dun Mongolian Bider Horse. Genes (Basel) 2024 Dec 11;15(12).
    doi: 10.3390/genes15121589pubmed: 39766856google scholar: lookup
  4. 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
  5. Mura MC, Carcangiu V, Cosso G, Columbano N, Sanna Passino E, Luridiana S. Discrepancies between Genetic and Visual Coat Color Assignment in Sarcidano Horse. Animals (Basel) 2024 Feb 6;14(4).
    doi: 10.3390/ani14040543pubmed: 38396512google scholar: lookup