Linkage of the gene for equine combined immunodeficiency disease to microsatellite markers HTG8 and HTG4; synteny and FISH mapping to ECA9.
Abstract: Equine combined immunodeficiency disease (CID) is caused by homozygosity for an autosomal recessive gene. To identify linked markers for the disease, we studied a family segregating for the equine CID gene. A stallion and 19 of his CID-affected offspring were tested for marker segregation at 23 microsatellite DNA loci. His CID-affected offspring inherited only one of his two alleles at the HTG8 and HTG4 loci, namely HTG8-186 and HTG4-124, respectively. Lod scores for linkage to the CID gene using a theta of 0.01 were 5.34 for HTG8 and 2.37 for HTG4. The apparent genotypes also suggested linkage disequilibrium between the HTG8-186 allele and the gene for CID. The gene for the DNA protein kinase catalytic subunit (DNA-PK) was recently suggested as a candidate gene for equine CID. A defect of this gene causes a disease in mice that is similar to equine CID. Therefore, we investigated whether this gene might be associated with the microsatellite markers. Analysis of a somatic cell hybrid panel demonstrated synteny of DNA-PK with HTG4 and HTG8 (Kentucky Synteny Group 3). Fluorescence in situ hybridization (FISH) studies demonstrated that DNA-PK is located on horse chromosome ECA9p12. This work supports the hypothesis of DNA-PK as the probable cause of equine CID.
Publication Date: 1997-08-01 PubMed ID: 9345723DOI: 10.1111/j.1365-2052.1997.00152.xGoogle 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.
- Comparative Study
- Journal Article
- Research Support
- Non-U.S. Gov't
- Research Support
- U.S. Gov't
- Non-P.H.S.
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 is about the identification of genes linked to equine combined immunodeficiency disease (CID), suggesting that the gene for the DNA protein kinase catalytic subunit (DNA-PK) might be a probable cause.
Study Overview
- The purpose of the study was to identify genetic markers linked to equine combined immunodeficiency disease (CID), a severe condition in horses caused by a recessive gene.
- The researchers studied a family of horses that demonstrated a prevalence for CID. The family included a stallion and his 19 CID-affected descendants.
- They performed marker segregation tests on the family, focusing specifically on 23 selected microsatellite DNA loci.
Main Findings
- The researchers found evidence linking the HTG8 and HTG4 loci, specific areas on chromosomes to the CID gene. It was also observed that the CID-affected descendants consistently inherited only one of the two alleles found at these loci.
- The apparent genotypes recorded suggested a genetic inequilibrium connection between the HTG8-186 allele and CID’s causative gene.
Link to DNA-PK
- The DNA protein kinase catalytic subunit (DNA-PK) gene was held under scrutiny. This gene was previously proposed as a candidate gene for equine CID, as defects in this gene have been linked to a similar disease in mice.
- The study confirmed the synteny – the physical co-localization of genes on the same chromosome, of DNA-PK with HTG4 and HTG8. This was identified as a part of the Kentucky Synteny Group 3.
- Fluorescence in situ hybridization (FISH), a cytogenetic technique to locate the position of specific DNA sequences on chromosomes, confirmed that DNA-PK is present on ECA9p12of the horse chromosome.
Conclusion
- The findings from this research support the hypothesis that the DNA-PK gene could be the probable cause of equine CID.
- The discovery of the linkage between the HTG8 and HTG4 markers and equine CID disease will enable further in-depth studies, contributing to a deeper understanding of the disease and potential remedies.
Cite This Article
APA
Bailey E, Reid RC, Skow LC, Mathiason K, Lear TL, McGuire TC.
(1997).
Linkage of the gene for equine combined immunodeficiency disease to microsatellite markers HTG8 and HTG4; synteny and FISH mapping to ECA9.
Anim Genet, 28(4), 268-273.
https://doi.org/10.1111/j.1365-2052.1997.00152.x Publication
Researcher Affiliations
- M H Gluck Equine Research Center, Department of Veterinary Science, University of Kentucky, Lexington 40546-0099, USA.
MeSH Terms
- Alleles
- Animals
- Chromosome Mapping
- Female
- Genetic Linkage
- Horse Diseases / genetics
- Horses / genetics
- Hybrid Cells
- Immunologic Deficiency Syndromes / genetics
- Immunologic Deficiency Syndromes / veterinary
- In Situ Hybridization, Fluorescence
- Linkage Disequilibrium
- Male
- Mice
- Microsatellite Repeats
Citations
This article has been cited 5 times.- Machado FB, de Vasconcellos Machado L, Bydlowski CR, Bydlowski SP, Medina-Acosta E. Gametic phase disequilibrium between the syntenic multiallelic HTG4 and HMS3 markers widely used for parentage testing in Thoroughbred horses. Mol Biol Rep 2012 Feb;39(2):1447-52.
- Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer. Equine Vet J 2010 Oct;42(7):658-70.
- Lindgren G, Breen M, Godard S, Bowling A, Murray J, Scavone M, Skow L, Sandberg K, Guérin G, Binns M, Ellegren H. Mapping of 13 horse genes by fluorescence in-situ hybridization (FISH) and somatic cell hybrid analysis. Chromosome Res 2001;9(1):53-9.
- Lindgren G, Sandberg K, Persson H, Marklund S, Breen M, Sandgren B, Carlstén J, Ellegren H. A primary male autosomal linkage map of the horse genome. Genome Res 1998 Sep;8(9):951-66.
- Lear TL, Breen M, Ponce de Leon FA, Coogle L, Ferguson EM, Chambers TM, Bailey E. Cloning and chromosomal localization of MX1 and ETS2 to chromosome 26 of the horse (Equus caballus). Chromosome Res 1998 Jun;6(4):333-5.
Use Nutrition Calculator
Check if your horse's diet meets their nutrition requirements with our easy-to-use tool Check your horse's diet with our easy-to-use tool
Talk to a Nutritionist
Discuss your horse's feeding plan with our experts over a free phone consultation Discuss your horse's diet over a phone consultation
Submit Diet Evaluation
Get a customized feeding plan for your horse formulated by our equine nutritionists Get a custom feeding plan formulated by our nutritionists
