Etalon Publications and Research
Health
Is HERDA Always a Death Sentence? Horse Discovered Homozygous for HERDA with Minimal Signs
Patterson Rosa, L., Troop, T. W., Martin, K., Vierra, M., Foster, G., Lundquist, E., Brooks, S. A., & Lafayette, C. (2021). Hereditary Equine Regional Dermal Asthenia homozygote adult working horse with mild signs - A Case Report. Journal of Equine Veterinary Science, 106, 103756.
Fragile Foal Syndrome
Martin, K., Brooks, S., Vierra, M., Lafayette, W. T., McClure, S., Carpenter, M., & Lafayette, C. (2020). Fragile Foal Syndrome (PLOD1 c.2032G>A) occurs across diverse horse populations. Animal Genetics, 52(1), 137–138.
Kissing Spines
Patterson Rosa, L., Whitaker, B., Allen, K., Peters, D., Buchanan, B., McClure, S., Honnas, C., Buchanan, C., Martin, K., Lundquist, E., Vierra, M., Foster, G., Brooks, S., & Lafayette, C. (2022). Genomic loci associated with performance limiting equine overriding spinous processes (kissing spines). Research in Veterinary Science, 150, 65-71.
Performance
DMRT3 in Stock Horses
Patterson Rosa, L., Staiger, E. A., Martin, K., Vierra, M., Foster, G., Lundquist, E., Brooks, S. A., & Lafayette, C. (2021). Stock-type equine disciplines Hunter, Reining and Roping are associated with the A allele at the DMRT3 locus for gait phenotypes in the horse. Animal Genetics, 10.1111/age.13110.
Disciplinas esportivas em cavalos de raças de trabalho são associadas ao alelo A no locus DMRT3.
Gaspar, M. C., Campos, F. A., Staiger, E. A., Martin, K., Vierra, M., Foster, G., ... & Lafayette, C. (2021). Disciplinas esportivas em cavalos de raças de trabalho são associadas ao alelo A no locus DMRT3. Equina, 15, 4-8.
Color
Three Novel KIT Polymorphisms Found in Horses with White Coat Color Phenotypes.
Obradovic, N. A., McFadden, A., Martin, K., Vierra, M., McLoone, K., Martin, E., ... & Lafayette, C. (2025). Three Novel KIT Polymorphisms Found in Horses with White Coat Color Phenotypes. Animals, 15(7), 915.
Spotting the Pattern: A Review on White Coat Color in the Domestic Horse.
McFadden, A., Vierra, M., Martin, K., Brooks, S. A., Everts, R. E., & Lafayette, C. (2024). Spotting the Pattern: A Review on White Coat Color in the Domestic Horse. Animals , 14(3), 451.
Eden White 1-3 (EDXW1, EDXW2, EDXW3)
McFadden, A., Martin, K., Vierra, M., Robilliard, H., Lundquist, E. W., Everts, R. E., Brooks, S. A., & Lafayette, C. (2024). Three HPS5 mutations associated with depigmentation in diverse horse breeds. Livestock Science, 282, 105454.
Population Analysis Identifies 15 Multi-Variant Dominant White Haplotypes in Horses
McFadden, A., Vierra, M., Robilliard, H., Martin, K., Brooks, S. A., Everts, R. E., & Lafayette, C. (2024). Population Analysis Identifies 15 Multi-Variant Dominant White Haplotypes in Horses. Animals, 14(3), 517.
Splashed White 9 and Splashed White 10 (SW9 and SW10, Giltor)
McFadden, A., Martin, K., Foster, G., Vierra, M., Lundquist, E. W., Everts, R. E., Martin, E., Volz, E., McLoone, K., Brooks, S. A., & Lafayette, C. (2023). Two Novel Variants in MITF and PAX3 Associated With Splashed White Phenotypes in Horses. [_Journal of Equine Veterinary Science-}(https://doi.org/10.1016/j.jevs.2023.104875), 128, 104875.
Dominant White 35 (W35, Holiday White)
McFadden, A., Martin, K., Foster, G., Vierra, M., Lundquist, E. W., Everts, R. E., Martin, E., Volz, E., McLoone, K., Brooks, S. A., & Lafayette, C. (2023). 5′UTR Variant in KIT Associated With White Spotting in Horses. Journal of Equine Veterinary Science, 127, 104563.
Dominant White 34 (W34)
Patterson Rosa, L., Martin, K., Vierra, M., Lundquist, E., Foster, G., Brooks, S. A., & Lafayette, C. (2022). A KIT Variant Associated with Increased White Spotting Epistatic to MC1R Genotype in Horses (Equus caballus). Animals, 12(15), 1958.
Non‐frameshift deletion on MITF is associated with a novel splashed white spotting pattern in horses (Equus caballus)
Patterson Rosa, L., Martin, K., Vierra, M., Foster, G., Brooks, S. A., & Lafayette, C. (2022). Non‐frameshift deletion on MITF is associated with a novel splashed white spotting pattern in horses (Equus caballus). Animal genetics, 53(4).
Dominant White 31 and Dominant White 32 (W31 and W32, Merada White and Scandalous White)
Patterson Rosa, L., Martin, K., Vierra, M., Foster, G., Lundquist, E., Brooks, S. A., & Lafayette, C. (2021). Two Variants of KIT Causing White Patterning in Stock-Type Horses. Journal of Heredity, 112(5), 447-451.
Dominant White 30 (W30)
Martin, K., Rosa, L. P., Vierra, M., Foster, G., Brooks, S. A., & Lafayette, C. (2021). De novo mutation of KIT causes extensive coat white patterning in a family of Berber horses. Animal Genetics, 52(1), 135-137.
Snowdrop (Sno)
Bisbee, D., Carpenter, M. L., Hoefs-Martin, K., Brooks, S. A., & Lafayette, C. (2020). Identification of a novel missense variant in SLC45A2 associated with dilute snowdrop phenotype in Gypsy horses. Animal Genetics, 51(2), 342-343.
Pearl (prl) and Sunshine (Sun)
Holl, H. M., Pflug, K. M., Yates, K. M., Hoefs-Martin, K., Shepard, C., Cook, D. G., Lafayette, C., & Brooks, S. A. (2019). A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses. Animal Genetics, 50(3), 271-274.
Splashed White 5 (SW5)
Henkel, J., Lafayette, C., Brooks, S. A., Martin, K., Patterson-Rosa, L., Cook, D., Jagannathan, V., & Leeb, T. (2019). Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness. Animal Genetics, 50(2), 172-174.
Dominant White 22 (W22, Airdrie Apache)
Dürig, N., Jude, R., Holl, H., Brooks, S. A., Lafayette, C., Jagannathan, V., & Leeb, T. (2017). Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes. Animal Genetics, 48(4), 483-485.
Dominant White 23 (W23) and homozygous W15 (Khartoon Khlassic)
Holl, H. M., Brooks, S. A., Carpenter, M. L., Bustamante, C. D., & Lafayette, C. (2017). A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes. Animal Genetics, 48(4), 497–498.
Ancestry & Parentage
Parentage Testing through SNPs in the Horse
Holl, H. M., Vanhnasy, J., Everts, R. E., Hoefs-Martin, K., Cook, D., Brooks, S. A., Carpenter, M. L., Bustamante, C. D., & Lafayette, C. (2017). Single nucleotide polymorphisms for DNA typing in the domestic horse. Animal Genetics, 48(6), 669-676.
Demystifying the Genetic Origins of the Mangalarga Horse Through the Influential Stallion Turbante J.O.
Patterson Rosa, L., Campos, F. A., Martin, K., Vierra, M., Foster, G., Lundquist, E., Brooks, S. A., & Lafayette, C. (2022). Demystifying the Genetic Origins of the Mangalarga Horse Through the Influential Stallion Turbante J.O. Journal of equine veterinary science, 113, 103910.
Medical Relevancy
Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness.
Henkel J, Lafayette C, Brooks SA, Martin K, Patterson-Rosa L, Cook D, Jagannathan V, Leeb T. (2019). Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness. Anim Genet. 50(2):172-174. doi: 10.1111/age.12762.
This publication shows an equine equivalent of Waardenburg Syndrome
More Horse Health
Lordosis
Lordosis (L1, L2, L3, L4), also known as "Swayback", is a curvature or dip in the spine that is often seen in older horses. However, in the American Saddlebred, this condition also affects younger horses. These animals do not appear to experience pain from their condition and are still able to be used under saddle.
Malignant Hyperthermia
Malignant hyperthermia (MH) is a muscle disorder in which anesthesia, stress, or extreme exercise trigger a hyperthermic state. Symptoms include high temperature, increased heart rate, high blood pressure, sweating, acidosis, and muscle rigidity. If symptoms are not immediately resolved, death is likely to occur.
Myosin-Heavy Chain Myopathy
Myosin-Heavy Chain Myopathy (MY; previously "IMM") is a genetic muscle disease found most commonly in stock-type horses that can result in two different presentations, Immune-Mediated Myositis (IMM) and Nonexertional Rhabdomyolysis “tying up,” which are both characterized by muscle damage or loss. Both presentations are associated with the same genetic variant. Horses with MYHM may exhibit one or both presentations at different times in their lives, although some horses carrying the variant might not display any symptoms at all.
Myotonia
Myotonia (MYT) is a rare disorder involving a slowed relaxation of muscles after contraction. The most well-known example of myotonia is “fainting goats,” a breed that is characterized by sudden rigidy and/or falling over when startled. In the single documented horse, this resulted in a protruding third eyelid when excited, as well as problems with muscle stiffness.