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Home / Equine Research Bank / Anim Genet / A novel KIT deletion variant in a German Riding Pony with wh...
Animal genetics2019; 50(6); 761-763; doi: 10.1111/age.12840

A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.

Abstract: White spotting phenotypes in horses may be caused by developmental alterations impairing melanoblast differentiation, survival, migration and/or proliferation. Candidate genes for white-spotting phenotypes in horses include EDNRB, KIT, MITF, PAX3 and TRPM1. We investigated a German Riding Pony with a sabino-like phenotype involving extensive white spots on the body together with large white markings on the head and almost completely white legs. We obtained whole genome sequence data from this horse. The analysis revealed a heterozygous 1273-bp deletion spanning parts of intron 2 and exon 3 of the equine KIT gene (Chr3: 79 579 925-79 581 197). We confirmed the breakpoints of the deletion by PCR and Sanger sequencing. Knowledge of the functional impact of similar KIT variants in horses and other species suggests that this deletion represents a plausible candidate causative variant for the white-spotting phenotype. We propose the designation W28 for the mutant allele.
© 2019 Stichting International Foundation for Animal Genetics.
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Publication Date: 2019-08-28 PubMed ID: 31463981DOI: 10.1111/age.12840Google 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 highlights the discovery of a specific genetic variation in a German Riding Pony which appears to cause large white spots in its coat. This genetic variation affects the equine KIT gene, and is believed to be responsible for the white-spotting seen in some horses.

Objective of the Study

  • The aim of this study was to uncover the genetic factors that influence the appearance of white patches in the coat of a German Riding Pony. Understanding the genetic basis of such phenotypic traits is crucial for animal breeding, health, and managing genetic diversity.

Methods and Approach

  • The researchers made use of Whole Genome Sequencing (WGS), a process that provides a comprehensive map of an organism’s genetic material to discover new genetic variations. For this study, they collected WGS data from a German Riding Pony that exhibited significant white spots on its coat.
  • To confirm their findings, they carried out additional tests, such as Polymerase Chain Reaction (PCR) and Sanger Sequencing, to validate the specific mutation within the KIT gene.

Key Findings

  • The detailed genetic investigation discovered a 1,273 base-pair (bp) deletion in the equine KIT gene, which spanned parts of two important segments – intron 2 and exon 3. This particular deletion was identified as being heterozygous, meaning the pony inherited different forms of the gene from each parent.
  • This genetic deletion is a plausible candidate for the horse’s white-spotting phenotype, as previous research suggests that similar KIT gene variations can affect coat pigmentation in horses and other species.
  • The researchers proposed the scientific designation ‘W28’ for this mutated allele.

Implications of the Study

  • This newly identified genetic variant provides a better understanding of the genetic factors influencing coat color traits in horses, which is important for the equestrian and breeding communities.
  • This research could also aid in various fields of animal genetics, including conservation planning and disease management, as the KIT gene is also associated with other developmental traits and disorders in multiple species.

Cite This Article

APA
Hug P, Jude R, Henkel J, Jagannathan V, Leeb T. (2019). A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype. Anim Genet, 50(6), 761-763. https://doi.org/10.1111/age.12840

Publication

Animal genetics
ISSN: 1365-2052
NlmUniqueID: 8605704
Country: England
Language: English
Volume: 50
Issue: 6
Pages: 761-763

Researcher Affiliations

Hug, P
  • Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3001, Switzerland.
  • DermFocus, University of Bern, Bern, 3001, Switzerland.
Jude, R
  • RJC, Weilerswist, 53919, Germany.
Henkel, J
  • Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3001, Switzerland.
  • DermFocus, University of Bern, Bern, 3001, Switzerland.
Jagannathan, V
  • Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3001, Switzerland.
  • DermFocus, University of Bern, Bern, 3001, Switzerland.
Leeb, T
  • Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3001, Switzerland.
  • DermFocus, University of Bern, Bern, 3001, Switzerland.

MeSH Terms

  • Animals
  • Exons
  • Hair Color
  • Horses / genetics
  • Stem Cell Factor / genetics

Grant Funding

  • 31003A_172964 / Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

References

This article includes 15 references
  1. Brooks SA, Bailey E. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.. Mammalian Genome 16, 893-902.
  2. 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.. Animal Genetics 48, 727-8.
  3. 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.. Animal Genetics 48, 183-5.
  4. Haase B, Brooks SA, Schlumbaum A. Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.. PLoS Genetics 3, e195.
  5. Haase B, Brooks SA, 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.. Animal Genetics 40, 623-9.
  6. Haase B, Obexer-Ruff G, Dolf G, Rieder S, Burger D, Poncet PA, Gerber V, Howard J, Leeb T. Haematological parameters are normal in dominant white Franches-Montagnes horses carrying a KIT mutation.. Veterinary Journal 184, 315-7.
  7. Haase B, Jagannathan V, Rieder S, Leeb T. A novel KIT variant in an Icelandic horse with white-spotted coat colour.. Animal Genetics 46, 466.
  8. Hauswirth R, Haase B, Blatter M. Mutations in MITF and PAX3 cause ‘splashed white’ and other white spotting phenotypes in horses.. PLoS Genetics 8, e1002653.
  9. Hauswirth R, Jude R, Haase B. Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.. Animal Genetics 44, 763-5.
  10. Hoban R, Castle K, Hamilton N, Haase B. Novel KIT variants for dominant white in the Australian horse population.. Animal Genetics 49, 99-100.
  11. Holl H, Brooks S, Bailey E. De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern.. Animal Genetics 41(Suppl 2), 196-8.
  12. Holl H, Brooks S, 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.. Animal Genetics 48, 497-8.
  13. Jagannathan V, Gerber V, Rieder S, Tetens J, Thaller G, Drögemüller C, Leeb T. Comprehensive characterization of horse genome variation by whole genome sequencing of 88 horses.. Animal Genetics 50, 74-7.
  14. Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP. integrative genomics viewer.. Nature Biotechnology 29, 24-6.
  15. Thomas AJ, Erickson CA. The making of a melanocyte: the specification of melanoblasts from the neural crest.. Pigment Cell and Melanoma Research 21, 598-610.

Citations

This article has been cited 6 times.
  1. Górska A, Drobik-Czwarno W, Górska A, Bryś J. Genetic Determination of the Amount of White Spotting: A Case Study in Siberian Cats. Genes (Basel) 2022 Jun 2;13(6).
    doi: 10.3390/genes13061006pubmed: 35741768google scholar: lookup
  2. Esdaile E, Kallenberg A, Avila F, Bellone RR. Identification of W13 in the American Miniature Horse and Shetland Pony Populations. Genes (Basel) 2021 Dec 14;12(12).
    doi: 10.3390/genes12121985pubmed: 34946933google scholar: lookup
  3. 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
  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. McFadden A, Vierra M, Robilliard H, Martin K, Brooks SA, Everts RE, Lafayette C. Population Analysis Identifies 15 Multi-Variant Dominant White Haplotypes in Horses. Animals (Basel) 2024 Feb 5;14(3).
    doi: 10.3390/ani14030517pubmed: 38338160google scholar: lookup
  6. 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
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