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PLoS genetics2007; 3(11); e195; doi: 10.1371/journal.pgen.0030195

Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.

Abstract: White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes in horses. It shows considerable phenotypic variation, ranging from approximately 50% depigmented areas up to a completely white coat. In the horse, the four depigmentation phenotypes roan, sabino, tobiano, and dominant white were independently mapped to a chromosomal region on ECA 3 harboring the KIT gene. KIT plays an important role in melanoblast survival during embryonic development. We determined the sequence and genomic organization of the approximately 82 kb equine KIT gene. A mutation analysis of all 21 KIT exons in white Franches-Montagnes Horses revealed a nonsense mutation in exon 15 (c.2151C>G, p.Y717X). We analyzed the KIT exons in horses characterized as dominant white from other populations and found three additional candidate causative mutations. Three almost completely white Arabians carried a different nonsense mutation in exon 4 (c.706A>T, p.K236X). Six Camarillo White Horses had a missense mutation in exon 12 (c.1805C>T, p.A602V), and five white Thoroughbreds had yet another missense mutation in exon 13 (c.1960G>A, p.G654R). Our results indicate that the dominant white color in Franches-Montagnes Horses is caused by a nonsense mutation in the KIT gene and that multiple independent mutations within this gene appear to be responsible for dominant white in several other modern horse populations.
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Publication Date: 2007-11-14 PubMed ID: 17997609PubMed Central: PMC2065884DOI: 10.1371/journal.pgen.0030195Google Scholar: Lookup
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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.

The research article centers around the investigation of dominant white (W) horses’ varying degrees of depigmentation. The researchers analyzed certain genetic mutations in different horse populations and conclude that various independent mutations within the KIT gene account for the dominant white in several modern horse populations.

Objectives and Methods of Research

  • The main objective of this research was to investigate the genetic variations in dominant white horses and their depigmentation levels. This is significant as white coat color has been highly valued for at least 2,000 years in horses.
  • The researchers focused on the KIT gene, which is associated with four depigmentation phenotypes in horses: roan, sabino, tobiano, and dominant white. The gene is located in a particular chromosomal region on ECA 3.
  • By determining the genomic organization and sequence of the approximately 82 kb equine KIT gene, the researchers provided a foundation for the mutation analysis performed later in the study.
  • The researchers performed a mutation analysis on all 21 KIT exons in white Franches-Montagnes Horses, which revealed a particular mutation (nonsense mutation in exon 15).

Key Findings

  • The mutation analysis revealed three additional mutations in horses categorized as dominant white from other populations.
  • Three nearly completely white Arabians had a different nonsense mutation in exon 4, while six Camarillo White Horses presented a missense mutation in exon 12.
  • Five white Thoroughbreds possessed another missense mutation in exon 13. A missense mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.
  • The results imply that the white coat color in Franches-Montagnes Horses originates from a mutation in the KIT gene.
  • The researchers conclude that multiple independent mutations within the KIT gene account for dominant white in several modern horse populations.

Implications of research

  • The findings from this study shed light on the genetic variations responsible for dominant white coloring in different horse populations. By identifying the specific mutations in the KIT gene contributing to these color variations, the research offers insight into the genetics of coat color in horses.
  • This research can be instrumental in future studies exploring depigmentation phenotypes or white coat color genetics in horses. It can also contribute to broader genetic studies involving other species.

Cite This Article

APA
Haase B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, Alaeddine F, Mevissen M, Burger D, Poncet PA, Rieder S, Leeb T. (2007). Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genet, 3(11), e195. https://doi.org/10.1371/journal.pgen.0030195

Publication

PLoS genetics
ISSN: 1553-7404
NlmUniqueID: 101239074
Country: United States
Language: English
Volume: 3
Issue: 11
Pages: e195
PII: e195

Researcher Affiliations

Haase, Bianca
  • Institute of Genetics, Vetsuisse Faculty, University of Berne, Berne, Switzerland.
Brooks, Samantha A
    Schlumbaum, Angela
      Azor, Pedro J
        Bailey, Ernest
          Alaeddine, Ferial
            Mevissen, Meike
              Burger, Dominik
                Poncet, Pierre-André
                  Rieder, Stefan
                    Leeb, Tosso

                      MeSH Terms

                      • Alleles
                      • Animals
                      • Base Sequence
                      • Blotting, Western
                      • Breeding
                      • Cytosine
                      • DNA Mutational Analysis
                      • Genes, Dominant
                      • Genetic Heterogeneity
                      • Genome
                      • Guanine
                      • Horses / genetics
                      • Molecular Sequence Data
                      • Phenotype
                      • Polymorphism, Genetic
                      • Proto-Oncogene Proteins c-kit / genetics
                      • Skin / metabolism

                      Conflict of Interest Statement

                      Competing interests. The authors have declared that no competing interests exist.

                      References

                      This article includes 28 references
                      1. Lehmann-Mathildenhöh E. Beitrag zur Vererbung weißgeborener Pferde. Z Tierz Züchtungsbio 1941;49:191–195.
                      2. Mau C, Poncet PA, Bucher B, Stranzinger G, Rieder S. Genetic mapping of dominant white (W), a homozygous lethal condition in the horse (Equus caballus). J Anim Breed Genet 2004;121:374–383.
                      3. Home page Camarillo White Horse Association. 2007. Available: http://www.camarillowhitehorses.org/. Accessed 10 October 2007.
                      4. Pulos WL, Hutt FB. Lethal dominant white in horses.. J Hered 1969 Mar-Apr;60(2):59-63.
                        pubmed: 5816567doi: 10.1093/oxfordjournals.jhered.a107933google 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 Mar;10(3):283-8.
                        pubmed: 10051325doi: 10.1007/s003359900987google scholar: lookup
                      6. Brooks SA, Bailey E. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.. Mamm Genome 2005 Nov;16(11):893-902.
                        pubmed: 16284805doi: 10.1007/s00335-005-2472-ygoogle scholar: lookup
                      7. Brooks SA, Lear TL, Adelson DL, Bailey E. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.. Cytogenet Genome Res 2007;119(3-4):225-30.
                        pubmed: 18253033doi: 10.1159/000112065google scholar: lookup
                      8. Hintz HF, van Vleck LD. Lethal dominant roan in horses. J Hered 1979;70:145–146.
                      9. Roskoski R Jr. Structure and regulation of Kit protein-tyrosine kinase--the stem cell factor receptor.. Biochem Biophys Res Commun 2005 Dec 23;338(3):1307-15.
                        pubmed: 16226710doi: 10.1016/j.bbrc.2005.09.150google scholar: lookup
                      10. Blume-Jensen P, Claesson-Welsh L, Siegbahn A, Zsebo KM, Westermark B, Heldin CH. Activation of the human c-kit product by ligand-induced dimerization mediates circular actin reorganization and chemotaxis.. EMBO J 1991 Dec;10(13):4121-8.
                        pmc: PMC453162pubmed: 1721869doi: 10.1002/j.1460-2075.1991.tb04989.xgoogle scholar: lookup
                      11. Rönnstrand L. Signal transduction via the stem cell factor receptor/c-Kit.. Cell Mol Life Sci 2004 Oct;61(19-20):2535-48.
                        pubmed: 15526160doi: 10.1007/s00018-004-4189-6google scholar: lookup
                      12. Roskoski R Jr. Signaling by Kit protein-tyrosine kinase--the stem cell factor receptor.. Biochem Biophys Res Commun 2005 Nov 11;337(1):1-13.
                        pubmed: 16129412doi: 10.1016/j.bbrc.2005.08.055google scholar: lookup
                      13. Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.. Proc Natl Acad Sci U S A 1991 Oct 1;88(19):8696-9.
                        pmc: PMC52576pubmed: 1717985doi: 10.1073/pnas.88.19.8696google scholar: lookup
                      14. Fleischman RA, Saltman DL, Stastny V, Zneimer S. Deletion of the c-kit protooncogene in the human developmental defect piebald trait.. Proc Natl Acad Sci U S A 1991 Dec 1;88(23):10885-9.
                        pmc: PMC53036pubmed: 1720553doi: 10.1073/pnas.88.23.10885google scholar: lookup
                      15. Spritz RA. Molecular basis of human piebaldism.. J Invest Dermatol 1994 Nov;103(5 Suppl):137S-140S.
                        pubmed: 7525736doi: 10.1111/1523-1747.ep12399455google scholar: lookup
                      16. Geissler EN, Ryan MA, Housman DE. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene.. Cell 1988 Oct 7;55(1):185-92.
                        pubmed: 2458842doi: 10.1016/0092-8674(88)90020-7google scholar: lookup
                      17. Chabot B, Stephenson DA, Chapman VM, Besmer P, Bernstein A. The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus.. Nature 1988 Sep 1;335(6185):88-9.
                        pubmed: 2457811doi: 10.1038/335088a0google scholar: lookup
                      18. Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, Sugahara H, Butterfield JH, Ashman LK, Kanayama Y. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product.. J Clin Invest 1993 Oct;92(4):1736-44.
                        pmc: PMC288334pubmed: 7691885doi: 10.1172/jci116761google scholar: lookup
                      19. Schmutz SM, Berryere TG, Goldfinch AD. TYRP1 and MC1R genotypes and their effects on coat color in dogs.. Mamm Genome 2002 Jul;13(7):380-7.
                        pubmed: 12140685doi: 10.1007/s00335-001-2147-2google scholar: lookup
                      20. Drögemüller C, Leeb T, Harlizius B, Tammen I, Distl O, Höltershinken M, Gentile A, Duchesne A, Eggen A. Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4).. BMC Genet 2007 Feb 23;8:5.
                        pmc: PMC1810560pubmed: 17319939doi: 10.1186/1471-2156-8-5google scholar: lookup
                      21. Marklund S, Kijas J, Rodriguez-Martinez H, Rönnstrand L, Funa K, Moller M, Lange D, Edfors-Lilja I, Andersson L. Molecular basis for the dominant white phenotype in the domestic pig.. Genome Res 1998 Aug;8(8):826-33.
                        pmc: PMC310759pubmed: 9724328doi: 10.1101/gr.8.8.826google scholar: lookup
                      22. Santschi EM, Purdy AK, Valberg SJ, Vrotsos PD, Kaese H, Mickelson JR. Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses.. Mamm Genome 1998 Apr;9(4):306-9.
                        pubmed: 9530628doi: 10.1007/s003359900754google scholar: lookup
                      23. Guerif F, Cadoret V, Plat M, Magistrini M, Lansac J, Hochereau-De Reviers MT, Royere D. Characterization of the fertility of Kit haplodeficient male mice.. Int J Androl 2002 Dec;25(6):358-68.
                        pubmed: 12406368doi: 10.1046/j.1365-2605.2002.00382.xgoogle scholar: lookup
                      24. Pielberg G, Mikko S, Sandberg K, Andersson L. Comparative linkage mapping of the Grey coat colour gene in horses.. Anim Genet 2005 Oct;36(5):390-5.
                        pubmed: 16167981doi: 10.1111/j.1365-2052.2005.01334.xgoogle scholar: lookup
                      25. Sturtevant AH. A critical examination of recent studies on coat colour inheritance in horses. J Genet 1912;2:41–51.
                      26. Junkelmann M. Die Reiter Roms Teil 1: Reise, Jagd, Triumph und Circusrennen. Kulturgeschichte der antiken Welt Bd 1990;45:61.
                      27. Tacitus GT. Germania. 98; Chapter 10.
                      28. Leeb T, Vogl C, Zhu B, de Jong PJ, Binns MM, Chowdhary BP, Scharfe M, Jarek M, Nordsiek G, Schrader F, Blöcker H. A human-horse comparative map based on equine BAC end sequences.. Genomics 2006 Jun;87(6):772-6.
                        pubmed: 16603334doi: 10.1016/j.ygeno.2006.03.002google scholar: lookup

                      Citations

                      This article has been cited 38 times.
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