Hostname: page-component-8448b6f56d-c47g7 Total loading time: 0 Render date: 2024-04-20T04:03:09.164Z Has data issue: false hasContentIssue false
  • English
  • Français

TBX3 and ASIP genotypes reveal discrepancies in officially recorded coat colors of Hucul horses

Published online by Cambridge University Press:  07 January 2019

M. Mackowski ,
L. Wodas ,
S. A. Brooks  and
J. Cieslak Open the ORCID record for J. Cieslak [Opens in a new window]
M. Mackowski
Affiliation:
Department of Horse Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637 Poznan, Poland Horse Genetic Markers Laboratory, Poznan University of Life Sciences, Wolynska 33, 60-637Poznan, Poland
L. Wodas
Affiliation:
Department of Horse Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637 Poznan, Poland
S. A. Brooks
Affiliation:
Department of Animal Science, University of Florida, Gainesville, FL 32611, USA
J. Cieslak*
Affiliation:
Department of Horse Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637 Poznan, Poland
*
†E-mail: jcieslak@up.poznan.pl
Get access

Abstract

Although only a few specific pigmentation types are allowed within the Hucul horse registry, accurate determination of particular coat colors can be uncertain due to the presence of variation in color shades and segregation of multiple dun dilution variants. Herein, we genotyped the previously identified polymorphisms within two coat color loci TBX3 (T-box 3) and ASIP (Agouti Signaling Protein) in 462 Hucul individuals and compared the genotype predicted phenotypes with observed pigmentation types provided in the Polish Horse Breeders Association database. We identified disagreement between the predicted and recorded coat color in 157 horses (34%). The most common error was misclassification of horses with the nd1/nd1 and nd1/nd2 genotypes, what may be related with the occurrence of some ‘intermediate’ dilution phenotypes in such individuals. We have also proven that the frequency of the dominant dun dilution allele (D) (0.30) is higher than previously predicted by available studbooks. The D allele(s) is easily ‘hidden’ in various phenotypic groups including dark bay and black, therefore we hypothesized that the dun dilution effect itself is not as strongly epistatic in the Hucul horse as described in other horse breeds. This may be the result of an additional genetic modifier suppressing D allele phenotypic effect.

Keywords

horse pigmentationdun dilutionDNA polymorphismallele frequencygenotype frequency
Type
Research Article
Information
animal , Volume 13 , Issue 9 , September 2019 , pp. 1811 - 1816
Copyright
© The Animal Consortium 2019 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Bellone, RR 2010. Pleiotropic effects of pigmentation genes in horses. Animal Genetics 2 (Suppl.), 100–110.CrossRefGoogle Scholar
Cieslak, J, Cholewinski, G and Mackowski, M 2013. Genotyping of coat color genes (MC1R, ASIP, PMEL17 and MATP) polymorphisms in cold-blooded horses bred in Poland reveals sporadic mistakes in phenotypic descriptions. Animal Science Papers and Reports 31, 159–164.Google Scholar
Finn, JL, Haase, B, Willet, CE, van Rooy, D, Chew, T, Wade, CM, Hamilton, NA and Velie, BD 2016. The relationship between coat colour phenotype and equine behaviour: a pilot study. Applied Animal Behaviour Science 174, 66–69.CrossRefGoogle Scholar
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 and Andersson, L 2016. Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses. Nature Genetics 48, 152–158.CrossRefGoogle ScholarPubMed
Jacobs, LN, Staiger, EA, Albright, JD and Brooks, SA 2016. The MC1R and ASIP coat color loci may impact behavior in the horse. Journal of Heredity 107, 214–219.CrossRefGoogle Scholar
Koressaar, T and Remm, M 2007. Enhancements and modifications of primer design program Primer3. Bioinformatics 23, 1289–1291.CrossRefGoogle ScholarPubMed
Ludwig, A, Pruvost, M, Reissmann, M, Benecke, N, Brockmann, GA, Castaños, P, Cieslak, M, Lippold, S, Llorente, L, Malaspinas, AS, Slatkin, M and Hofreiter, M 2009. Coat color variation at the beginning of horse domestication. Science 324, 485.CrossRefGoogle ScholarPubMed
Mackowski, M, Mucha, S, Cholewinski, G and Cieslak, J 2015. Genetic diversity in Hucul and Polish primitive horse breeds. Archives Animal Breeding 58, 23–31.CrossRefGoogle Scholar
Moore, KJ, Seperack, PK, Strobel, MC, Swing, DA, Copeland, NG and Jenkins, NA 1998. Dilute suppressor dsu acts semidominantly to suppress the coat color phenotype of a deletion mutation, dl20J, of the murine dilute locus. Proceedings of the National Academy of Sciences of the United States of America 85, 8131–8135.CrossRefGoogle Scholar
Rieder, S, Taourit, S, Mariat, D, Langlois, B and Guérin, G 2001. Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus). Mammalian Genome 12, 450–455.CrossRefGoogle Scholar
Stachurska, A, Brodacki, A and Grabowska, J 2012. Allele frequency in loci which control coat colours in Hucul horse population. Czech Journal of Animal Science 57, 178–186.CrossRefGoogle Scholar
Stachurska, A and Jansen, P 2015. Crypto-tobiano horses in Hucul breed. Czech Journal of Animal Science 60, 1–9.CrossRefGoogle Scholar
Stefaniuk-Szmukier, M, Ropka-Molik, K, Piórkowska, K, Szmatoła, T, Długosz, B, Pisarczyk, W and Bugno-Poniewierska, M 2017. Variation in TBX3 gene region in dun coat color Polish Konik horses. Journal of Equine Veterinary Science 49, 60–62.CrossRefGoogle Scholar
Supplementary material: PDF

Mackowski et al. supplementary material

Figure S1

Download Mackowski et al. supplementary material(PDF)
PDF 3.8 MB
Supplementary material: PDF

Mackowski et al. supplementary material

Table S1

Download Mackowski et al. supplementary material(PDF)
PDF 31 KB
Supplementary material: PDF

Mackowski et al. supplementary material

Table S2

Download Mackowski et al. supplementary material(PDF)
PDF 37.4 KB
Supplementary material: PDF

Mackowski et al. supplementary material

Table S3

Download Mackowski et al. supplementary material(PDF)
PDF 89.6 KB