A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.
Abstract: Tobiano is a white spotting pattern in horses caused by a dominant gene, Tobiano(TO). Here, we report TO associated with a large paracentric chromosome inversion on horse chromosome 3. DNA sequences flanking the inversion were identified and a PCR test was developed to detect the inversion. The inversion was only found in horses with the tobiano pattern, including horses with diverse genetic backgrounds, which indicated a common genetic origin thousands of years ago. The inversion does not interrupt any annotated genes, but begins approximately 100 kb downstream of the KIT gene. This inversion may disrupt regulatory sequences for the KIT gene and cause the white spotting pattern.
Copyright (c) 2008 S. Karger AG, Basel.
Publication Date: 2008-02-01 PubMed ID: 18253033DOI: 10.1159/000112065Google Scholar: Lookup The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The research looks into the Tobiano spotting pattern in horses, which is due to a specific dominant gene. This gene is intricately connected to a large paracentric chromosome inversion on horse chromosome 3, which might potentially disrupt regulatory sequences for the KIT gene causing the distinctive white spotting pattern in horses.
Research Background and Gene Association
- The study focuses on Tobiano spotting in horses, induced by a dominant gene names Tobiano(TO).
- The primary association discovered in the study is the link between TO and a sizable paracentric chromosome inversion on horse chromosome 3.
Detection of Inversion
- The researchers identified the DNA sequences surrounding this inversion. Based on these sequences, they were able to develop a PCR (polymerase chain reaction) test to detect the presence of inversion.
Inversion Co-relation with Tobiano Pattern
- The inversion of interest was exclusively found in horses expressing the Tobiano pattern. These horses came from a variety of genetic backgrounds.
- This finding suggests a collective genetic source for the Tobiano pattern dating back several centuries.
Inversion’s Impact on Gene and Pattern
- Importantly, the inversion does not disrupt any documented genes directly.
- However, it starts approximately 100 kb downstream of the KIT gene. The researchers hypothesize that this inversion’s location may impact the regulatory sequences for the KIT gene, triggering the white spotting pattern characteristic of the Tobiano.
Cite This Article
APA
Brooks SA, Lear TL, Adelson DL, Bailey E.
(2008).
A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.
Cytogenet Genome Res, 119(3-4), 225-230.
https://doi.org/10.1159/000112065 Publication
Researcher Affiliations
- Department of Veterinary Science, University of Kentucky, Lexington, KY, USA. samantha.brooks@uky.edu
MeSH Terms
- Albumins / genetics
- Animals
- Breeding
- Chromosome Inversion / genetics
- Chromosomes, Mammalian / genetics
- Genetic Markers
- Haplotypes
- Horses / genetics
- In Situ Hybridization, Fluorescence
- Molecular Sequence Data
- Pigmentation / genetics
- Polymerase Chain Reaction
- Polymorphism, Single Nucleotide / genetics
- Proto-Oncogene Proteins c-kit / genetics
- Vitamin D-Binding Protein / genetics