COAT COLOUR INHERITANCE PATTERNS ASSOCIATED WITH THE LEOPARD COMPLEX IN HORSES (A REVIEW)
Abstract and keywords
Abstract:
The aim of the study is to summarize the published results of studies on the inheritance patterns of the piebald coat color in domestic horses. Objectives: to analyze scientific papers aimed at studying the variability of the piebald coat color and its genetic determination. In preparing the review, publications of leading research groups working in the field of equine genetics were used. The search for scientific publications was performed using the following electronic library resources and databases: Wiley (https://onlinelibrary.wiley.com), PubMed Central (https://pmc.ncbi.nlm.nih.gov), ResearchGate (https://researchgate.net), OMIA – Online Mendelian Inheritance in Animals (https://www.omia.org). The list of references included 7 monographs and 55 scientific articles. Among horses with traits of the leopard complex, an extremely wide variety of phenotypes in color is observed. The LP (Leopard) mutation in the TRPM1 gene plays a key role, causing unique depigmentation patterns in horses. The LP mutation appeared in ancient horse populations long before their domestication and was caused by a retroviral insertion into intron 1 of the TRPM1 gene. To date, two loci have been identified whose mutations are associated with the control of leopard skin color variation in domestic horses: the incompletely dominant mutant LP allele (ECA1:g.108297929_ 108297930ins1378) and the dominant modifying allele PATN-1 (SNP ECA3:g.23658447T>G). It is important to note that, as a rule, only heterozygosity for the LP allele in combination with the presence of the dominant modifier PATN-1 in the horse's genotype leads to the preferred, well-defined leopard skin color phenotype. The LP mutation is the main factor determining the presence of various depigmentation variants observed in piebald horses. Heterozygous horses (with the LP/lp genotype) typically exhibit classic piebald patterns, such as leopard spots on a white background, or a roan color. The nature and intensity of depigmentation signs can vary significantly depending on additional genetic factors.

Keywords:
domestic horses, equine coat colors, leopard skin complex, TRPM1 gene
References

1. Librado P, Fages A, Gaunitz C, et al. The Evolutionary Origin and Genetic Makeup of Domestic Horses. Genetics. 2016;204(2):423-434. DOI:https://doi.org/10.1534/genetics.116.194860.

2. Andersson L. How selective sweeps in domestic animals provide new insight into biological mechanisms. Journal of Internal Medicine. 2012;271(1):1-14. DOI:https://doi.org/10.1111/j.1365-2796.2011.02450.x.

3. Librado P, Gamba C, Gaunitz C, et al. Ancient genomic changes associated with domestication of the horse. Science. 2017;356(6336):442-445. DOI:https://doi.org/10.1126/science.aam5298.

4. Linderholm A, Larson G. The role of humans in facilitating and sustaining coat colour variation in domestic animals. Seminars in Cell & Developmental Biology. 2013;24(6-7):587-593. DOI:https://doi.org/10.1016/j.semcdb.2013.03.015.

5. Ludwig A, Pruvost M, Reissmann M, et al. Coat color variation at the beginning of horse domestication. Science. 2009;324(5926):485. DOI:https://doi.org/10.1126/science.1172750.

6. Marklund L, Moller MJ, Sandberg K, et al. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mammalian Genome. 1996;7:895-899. DOI:https://doi.org/10.1007/s003359900264.

7. Rieder S, Taourit S, Mariat D, et al. 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. 2001;12:450-455. DOI:https://doi.org/10.1007/s003350020017.

8. Rieder S. Molecular tests for coat colours in horses. Journal of Animal Breeding and Genetics. 2009;126(6):415-424. DOI:https://doi.org/10.1111/j.1439-0388.2009.00832.x.

9. Cotman M, Kotiščak J, Mesarič M. Variation in the ASIP and DUN genes responsible for coat colour in Bosnian mountain horse. Slovenian Veterinary Research. 2024;61(1):49-56. DOI:https://doi.org/10.26873/SVR-1810-2024.

10. Avila F, Hughes SS, Magdesian KG, et al. Breed Distribution and Allele Frequencies of Base Coat Color, Dilution, and White Patterning Variants across 28 Horse Breeds. Genes. 2022;13(9):1641. DOI:https://doi.org/10.3390/genes13091641.

11. Wade CM, Giulotto E, Sigurdsson S, et al. Genome sequence, comparative analysis and population genetics of the domestic horse (Equus caballus). Science. 2009;326(5954):865-867. DOI:https://doi.org/10.1126/science.1178158.

12. Doan R, Cohen ND, Sawyer J, et al. Whole-Genome sequencing and genetic variant analysis of a quarter Horse mare. MC Genomics. 2012;13:78. DOI:https://doi.org/10.1186/1471-2164-13-78.

13. Chowdhary BP. Equine genomics. Wiley-Blackwell, 2013.

14. Obradovic NA, McFadden A, Martin K, et al. Three novel KIT polymorphisms found in horses with white coat color phenotypes. Animals. 2025;15(7):915. DOI:https://doi.org/10.3390/ani15070915.

15. McFadden A., Vierra M., Martin K., et al. Spotting the Pattern: A review on white coat color in the domestic horse. Animals. 2024;14(3):451. DOI:https://doi.org/10.3390/ani14030451.

16. Bellone RR, Tanaka J, Esdaile E, et al. A de novo 2.3 kb structural variant in MITF explains a novel splashed white phenotype in a Thoroughbred family. Animal Genetics. 2023;54(6):752-762. DOI:https://doi.org/10.1111/age.13352.

17. Patterson Rosa L, Martin K, Vierra M, et al. Non-frameshift deletion on MITF is associated with a novel splashed white spotting pattern in horses (Equus caballus). Animal Genetics. 2022;53(4):538-540. DOI:https://doi.org/10.1111/age.13225.

18. Liu X, Peng Y, Zhang X, et al. Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes. Animals. 2024;14(12):1802. DOI:https://doi.org/10.3390/ani14121802.

19. Rubin C-J, Hodge McK, Naboulsi R, et al. An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses. Nature Communications. 2024;15(1):7510. DOI:https://doi.org/10.1038/s41467-024-51898-2.

20. Reissmann M. Die Farben der Pferde. Cadmos, 2009.

21. Bailey EF, Brooks SA. Horse genetics, 2nd edition. CABI, 2013.

22. Bailey EF, Brooks SA. Horse genetics, 3rd edition. CABI, 2020.

23. Arriens H. Farben und Farbvererbung beim Pferd. Teil IV: Scheckungen und Tiger (E-Book-Version). Tierbuchverlag Irene Hohe, 2013.

24. Sponenberg DP, Bellone R. Equine color genetics. Willey-Blackwell, 2017.

25. Sponenberg DP, Carr G, Simak E, et al. The inheritance of the leopard complex of spotting patterns in horses. Journal of Heredity. 1990;81(4):323-331. DOI:https://doi.org/10.1093/oxfordjournals.jhered.a110997.

26. Sandmeyer LS, Breaux CB, Archer S., et.al. Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. Veterinary Ophthalmology. 2007;10(6):368-375. DOI:https://doi.org/10.1111/j.1463-5224.2007.00572.x.

27. Bellone RR, Brooks SA, Sandmeyer L, et al. Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns (LP) in the Appaloosa Horse (Equus caballus). Genetics. 2008;179(4):1861-1870. DOI:https://doi.org/10.1534/genetics.108.088807.

28. Sandmeyer LS, Bellone RR, Archer S, et al. Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse. Veterinary Ophthalmology. 2012;15(1):18-22. DOI:https://doi.org/10.1111/j.1463-5224.2011.00903.x.

29. Sandmeyer LS, Kingsley NB, Walder C, et al. Risk factors for equine recurrent uveitis in a population of Appaloosa horses in western Canada. Veterinary Ophthalmology. 2020;23(3):515-525. DOI:https://doi.org/10.1111/vop.12749.

30. Kingsley NB, Sandmeyer L, Parker SE, et al. Risk factors for insidious uveitis in the Knabstrupper breed. Equine Veterinary Journal. 2023;55(5):820-830. DOI:https://doi.org/10.1111/evj.13879.

31. Kingsley NB, Sandmeyer L, Bellone RR. A review of investigated risk factors for developing equine recurrent uveitis. Veterinary Ophthalmology. 2023;26(2):86-100. DOI:https://doi.org/10.1111/vop.13002.

32. Rockwell H, Mack M, Famula T, et al. Genetic investigation of equine recurrent uveitis in Appaloosa horses. Animal Genetics. 2020;51(1):111-116. DOI:https://doi.org/10.1111/age.12883.

33. Komáromy AM, Lenstra JA. Genetic Eye Diseases in Animals: A Selected Review of Recent Advances. Animal Genetics. 2024;55(5):711-713. DOI:https://doi.org/10.1111/age.13460.

34. Bellone RR. Pleiotropic effects of pigmentation genes in horses. Animal Genetics. 2010;41(s2):100-110. DOI:https://doi.org/10.1111/j.1365-2052.2010.02116.x.

35. Reissmann M, Ludwig A. Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals. Seminars in Cell & Developmental Biology. 2013;24(6-7):576-586. DOI: 10.1016/ j.semcdb.2013.03.014.

36. McCabe L, Griffin LD, Kinzer A, et al. Overo lethal white foal syndrome: Equine model of aganglionic megacolon (Hirschsprung disease). American Journal of Medical Genetics. 1990;36(3):336-340. DOI:https://doi.org/10.1002/ajmg.1320360319.

37. Keppers HA, Gonda MG. Lethal white foal syndrome: a review. Canadian Journal of Animal Science. 2025;105:1-8. DOI:https://doi.org/10.1139/cjas-2024-0077.

38. AbouEl Ela NH, El Araby IE, Saleh AA, et al. Evidence for origin of lavender foal syndrome among Egyptian Arabian horses in Egypt. Equine Veterinary Journal. 2023;55(3):487-493. DOI:https://doi.org/10.1111/evj. 13604.

39. Brooks SA, Gabreski N, Miller D, et al. Whole-Genome SNP Association in the Horse: Identification of a Deletion in Myosin Va Responsible for Lavender Foal Syndrome. PLoS Genetics. 2010;6(4):e1000909. DOI:https://doi.org/10.1371/journal.pgen.1000909.

40. Brunberg E, Andersson L, Cothran G, et al. A missense mutation in PMEL17 is associated with the Silver coat color in the horse. BMC Genetics. 2006;7:46. DOI:https://doi.org/10.1186/1471-2156-7-46.

41. Reissmann M, Bierwolf J, Brockmann GA. Two SNPs in the SILV gene are associated with silver coat colour in ponies. Animal Genetics. 2007;38(1):1-6. DOI:https://doi.org/10.1111/j.1365-2052.2006.01553.x.

42. Andersson LS, Wilbe M,Viluma A, et al. Equine Multiple Congenital Ocular Anomalies and Silver Coat Colour Result from the Pleiotropic Effects of Mutant PMEL. PLOS One. 2013;8(9):e75639. DOI:https://doi.org/10.1371/journal.pone.0075639.

43. Henkel J, Lafayette C, Brooks SA, et al. Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness. Animal Genetics. 2019;50(2):172-174. DOI:https://doi.org/10.1111/age.12762.

44. Barbitoff YA, Bogaichuk PM, Pavlova NS, et.al. Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits. Molecular Biology and Evolution. 2025;42(10):msaf232. DOI:https://doi.org/10.1093/molbev/msaf232.

45. Sponenberg DP. Equine color genetics. Willey-Blackwell, 2003.

46. Ellegren H, Johansson M, Sandberg K, et al. Cloning of highly polymorphic microsatellites in the horse. Animal Genetics. 1992;23(2):133-142. DOI:https://doi.org/10.1111/j.1365-2052.1992.tb00032.x.

47. Guérin G, Bailey E, Bernoco D, et al. Report of the International Equine Gene Mapping Workshop: male linkage map. Animal Genetics. 1999;30(5):325-405. DOI:https://doi.org/10.1046/j.1365-2052.1999.00510.x.

48. Terry RB, Bailey E, Bernoco D, et al. Linked markers exclude KIT as the gene responsible for appaloosa coat colour spotting patterns in horses. Animal Genetics. 2001;32(2):98-101. DOI:https://doi.org/10.1046/j.1365-2052.2001.00737.x.

49. Terry RB, Bailey E, Lear T, et al. Rejection of MITF and MGF as the genes responsible for appaloosa coat colour patterns in horses. Animal Genetics. 2002;33(1):82-84. DOI:https://doi.org/10.1046/j.1365-2052.2002.0742h.x.

50. Terry RB, Archer S, Brooks S, et al. Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1. Animal Genetics. 2004;35(2):134-137. DOI:https://doi.org/10.1111/j.1365-2052.2004.01113.x.

51. Bellone RR, Forsyth G, Leeb T, et al. Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses. Briefings in Functional Genomics. 2010;9(3):193-207. DOI:https://doi.org/10.1093/bfgp/elq002.

52. Bellone RR, Archer S, Wade CM, et al. Association analysis of candidate SNPs in TRPM1 with leopard complex spotting (LP) and congenital stationary night blindness (CSNB) in horses. Animal Genetics. 2010;41(s2):207. DOIhttps://doi.org/10.1111/j.1365-2052.2010.02119.x.

53. Pruvost M, Bellone R, Benecke N, et al. Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art. Proceedings of the National Academy of Sciences of the United States of America. 2011;108(46):18626-30. DOI:https://doi.org/10.1073/pnas.1108982108.

54. Bellone RR, Holl H, Setaluri V, et al. 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. DOI:https://doi.org/10.1371/journal.pone.0078280.

55. Jiang R, Zhou J, Liu Y, et al. Endogenous Retroviruses in Host-Virus Coevolution: From Genomic Domestication to Functional Innovation. Genes (Basel). 2025;16(8):964. DOI:https://doi.org/10.3390/genes16080964.

56. Zhu H, Gifford RJ, Murcia PR. Distribution, Diversity, and Evolution of Endogenous Retroviruses in Perissodactyl Genomes. Journal of Virology. 2018;92(23):e00927-18. DOI:https://doi.org/10.1128/jvi.00927-18.

57. Ludwig A, Reissmann M, Benecke N, et al. Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 2015;370(1660):20130386. DOI:https://doi.org/10.1098/rstb.2013.0386.

58. Holl HM, Brooks SA, Archer S, et al. Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Animal Genetics. 2016;47(1):91-101. DOI:https://doi.org/10.1111/age.12375.

59. Druml T, Baumung R, Sölkner J. Pedigree analysis in the Austrian Noriker draught horse: genetic diversity and the impact of breeding for coat colour on population structure. Journal of Animal Breeding and Genetics. 2009;126(5):348-356. DOI:https://doi.org/10.1111/j.1439-0388.2008.00790.x.

60. Grilz-Seger G, Neuhauser B, Druml T, et al. Classification and nomenclature of the leopard complex spotting in the Noriker horse breed and its relevance for the breeding for color. Züchtungskunde. 2017;89(5):359-374.

61. Druml T, Grilz-Seger G, Neuditschko M, et al. Phenotypic and Genetic Analysis of the Leopard Complex Spotting in Noriker Horses. Journal of Heredity. 2017;108(5):505-514. DOI:https://doi.org/10.1093/jhered/esx039.

62. Grilz‐Seger G, Druml T, Neuditschko M, et al. Analysis of ROH patterns in the Noriker horse breed reveals signatures of selection for coat color and body size. Animal Genetics. 2019;50(4):334-346. DOI:https://doi.org/10.1111/age.12797.


Login or Create
* Forgot password?