Linked markers exclude KIT as the gene responsible for appaloosa coat colour spotting patterns in horses.
Abstract: The appaloosa coat colour pattern of the horse is similar to that caused by the rump-white (Rw) gene in the mouse. In the mouse Rw colour pattern is the result of an inversion involving the proto-oncogene c-kit (KIT). Therefore, we investigated KIT as a candidate gene that encodes the appaloosa coat colour gene (Lp) in horses. KIT plays a critical role in haematopoiesis, gametogenesis, and melanogenesis and encodes a transmembrane tyrosine kinase receptor that belongs to the PDGF/CSF-1/c-KIT receptor subfamily. Half-sib families segregating for Lp were uninformative for a reported polymorphism in KIT. However, KIT is located on horse chromosome 3 close to albumin (ALB), serum carboxylesterase (ES), vitamin D-binding protein (GC) and microsatellite markers ASB23, LEX007, LEX57, and UCDEQ437. Indeed, KIT and ASB23 were localized to ECA3q21-22.1 and 3q22.1-22.3, respectively, by fluorescent in situ hybridization. Family studies were conducted to investigate linkage of Lp to these markers using eight half-sib families in which Appaloosa stallions were mated to solid coloured mares. Linkage of Lp to the chromosome region containing ES, ALB, GC, ASB23, UCDEQ437, LEX57, and LEX007 was investigated by a multipoint linkage analysis using the computer program GENEHUNTER. LOD scores over the interval under investigation ranged from -4.28 to -12.48, with a score of -12.48 at the location for ASB23. Therefore, it was concluded that appaloosa (Lp) is not linked to any of the tested markers on ECA3, and thus Lp is unlikely to be the product of KIT.
Publication Date: 2001-06-26 PubMed ID: 11421946DOI: 10.1046/j.1365-2052.2001.00737.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The research article presents the investigation on whether the KIT gene was responsible for the Appaloosa coat color pattern in horses. However, with the study results, it was concluded that this gene was not linked to this particular coat color pattern.
Objective of the Study
- The objective of the research was to investigate whether the KIT gene, which has been linked to certain color patterns in mice, is responsible for the Appaloosa coat color pattern in horses.
About the KIT Gene
- KIT is a gene that plays a critical role in haematopoiesis, gametogenesis, and melanogenesis in living organisms.
- The KIT gene encodes a transmembrane tyrosine kinase receptor that belongs to the PDGF/CSF-1/c-KIT receptor subfamily.
The Study Methodology
- A number of genes located close to KIT on horse chromosome 3 were also investigated. These genes included albumin (ALB), serum carboxylesterase (ES), vitamin D-binding protein (GC), and some microsatellite markers.
- Family studies were conducted with eight half-sib families of Appaloosa stallions and solid-coloured mares.
- The researchers then used a computer program called GENEHUNTER to conduct a multipoint linkage analysis to investigate possible links of the Lp gene responsible for the Appaloosa coat to these other markers.
Results and Conclusion
- LOD scores representing the evidence for linkage between these markers and the Lp gene ranged from -4.28 to -12.48.
- A score of -12.48 was obtained at the location for ASB23, a marker gene.
- These results led to the conclusion that the Lp gene, which is considered responsible for the Appaloosa coat colour pattern, is not linked to any of the tested markers on ECA3 chromosome, indicating that the KIT gene is not the gene responsible for the Appaloosa colour.
Cite This Article
APA
Terry RR, Bailey E, Bernoco D, Cothran EG.
(2001).
Linked markers exclude KIT as the gene responsible for appaloosa coat colour spotting patterns in horses.
Anim Genet, 32(2), 98-101.
https://doi.org/10.1046/j.1365-2052.2001.00737.x Publication
Researcher Affiliations
- Department of Veterinary Science, University of Kentucky, Lexington, KY 40524, USA. Stormont Laboratories, Woodland, CA 95776, USA. rbellon@pop.uky.edu
MeSH Terms
- Animals
- Chromosome Mapping
- Genetic Linkage / genetics
- Genetic Markers / genetics
- Hair Color / genetics
- Horses / genetics
- Lod Score
- Male
- Phenotype
- Proto-Oncogene Proteins c-kit / genetics
Citations
This article has been cited 2 times.- Li S, Wang C, Yu W, Zhao S, Gong Y. Identification of genes related to white and black plumage formation by RNA-Seq from white and black feather bulbs in ducks.. PLoS One 2012;7(5):e36592.
- Raudsepp T, Lee EJ, Kata SR, Brinkmeyer C, Mickelson JR, Skow LC, Womack JE, Chowdhary BP. Exceptional conservation of horse-human gene order on X chromosome revealed by high-resolution radiation hybrid mapping.. Proc Natl Acad Sci U S A 2004 Feb 24;101(8):2386-91.
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