Haematological parameters are normal in dominant white Franches-Montagnes horses carrying a KIT mutation.
Abstract: The KIT receptor protein-tyrosine kinase plays an important role during embryonic development. Activation of KIT is crucial for the development of various cell lineages such as melanoblasts, stem cells of the haematopoietic system, spermatogonia and intestinal cells of Cajal. In mice, many mutations in the Kit gene cause pigmentation disorders accompanied by pleiotropic effects on blood cells and male fertility. Previous work has demonstrated that dominant white Franches-Montagnes horses carry one copy of the KIT gene with the p.Y717X mutation. The targeted breeding of white horses would be ethically questionable if white horses were known to suffer from anaemia or leukopenia. The present study demonstrates that no statistically significant differences in peripheral blood parameters are detectable between dominant white and solid-coloured Franches-Montagnes horses. The data indicate that KIT mutations may have different effects in mice, pigs, and horses. The KIT p.Y717X mutation does not have a major negative effect on the haematopoietic system of dominant white horses.
Copyright 2009 Elsevier Ltd. All rights reserved.
Publication Date: 2009-04-10 PubMed ID: 19362501DOI: 10.1016/j.tvjl.2009.02.017Google Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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This study revealed that dominant white Franches-Montagnes horses carrying a KIT mutation do not exhibit notable differences in peripheral blood parameters compared to solid-coloured horses, indicating that this specific mutation does not significantly impact the horse’s haematopoietic (blood cell production) system.
Background
- The KIT protein-tyrosine kinase, a type of receptor protein, has significant functions during embryonic development. It is instrumental in the development of several cell lineages, including cells that produce melanin (melanoblasts), blood cells (haematopoietic stem cells), sperm cells (spermatogonia), and intestinal cells of Cajal.
- In mouse models, mutations in the Kit gene can lead to pigmentation disorders, and they also have “pleiotropic” effects, meaning the mutations influence blood cells and male fertility.
- Prior research has shown that dominant white Franches-Montagnes horses carry a KIT gene mutation known as p.Y717X.
Study Objectives and Methods
- The researchers of this study aimed to find out whether the p.Y717X mutation in dominant white Franches-Montagnes horses had any negative influence on their haematopoietic system, as such effects have been observed in mice.
- If this breed of white horses were found to be prone to blood disorders like anaemia or leukopenia due to this mutation, continuing to breed them for their colour could raise ethical concerns.
- To answer this question, the scientists compared the peripheral blood parameters of dominant white and solid-coloured Franches-Montagnes horses.
Results and Conclusions
- Analysis of the data showed no statistically significant difference in peripheral blood parameters between the two groups of horses, implying that the KIT p.Y717X mutation does not cause major problems to the haematopoietic system of these dominant white horses.
- The findings suggested that the impact of KIT mutations might differ across species – in this case, mice, pigs, and horses.
Cite This Article
APA
Haase B, Obexer-Ruff G, Dolf G, Rieder S, Burger D, Poncet PA, Gerber V, Howard J, Leeb T.
(2009).
Haematological parameters are normal in dominant white Franches-Montagnes horses carrying a KIT mutation.
Vet J, 184(3), 315-317.
https://doi.org/10.1016/j.tvjl.2009.02.017 Publication
Researcher Affiliations
- Institute of Genetics, Vetsuisse-Faculty, University of Berne, Bremgartenstr. 109a, P.O. Box 8466, 3001 Berne, Switzerland.
MeSH Terms
- Alleles
- Anemia / blood
- Anemia / genetics
- Anemia / veterinary
- Animal Welfare
- Animals
- Breeding
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Hair
- Hematologic Tests / veterinary
- Horse Diseases / blood
- Horse Diseases / genetics
- Horses / blood
- Horses / genetics
- Leukopenia / blood
- Leukopenia / genetics
- Leukopenia / veterinary
- Male
- Pigmentation / genetics
- Proto-Oncogene Proteins c-kit / genetics
Citations
This article has been cited 3 times.- Holl H, Isaza R, Mohamoud Y, Ahmed A, Almathen F, Youcef C, Gaouar S, Antczak DF, Brooks S. A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel.. Genes (Basel) 2017 Mar 9;8(3).
- Ponsuksili S, Reyer H, Trakooljul N, Murani E, Wimmers K. Single- and Bayesian Multi-Marker Genome-Wide Association for Haematological Parameters in Pigs.. PLoS One 2016;11(7):e0159212.
- Luo W, Chen S, Cheng D, Wang L, Li Y, Ma X, Song X, Liu X, Li W, Liang J, Yan H, Zhao K, Wang C, Wang L, Zhang L. Genome-wide association study of porcine hematological parameters in a Large White × Minzhu F2 resource population.. Int J Biol Sci 2012;8(6):870-81.
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