Etalon's Research

Welcome to Etalon’s Research Hub

Where your horse’s DNA can make a difference!

Testing your horse with Etalon fuels our ongoing exploration into equine health down to the DNA. From unraveling genetic mysteries linked to health and color to understanding horse performance, you can learn more about our research initiatives and how you can help shape the future of equine genetic testing today!

Every time a horse person, just like you, tests with Etalon, the horse’s DNA sample is added to our secure biobank for future research. And even if you haven’t tested with Etalon before, we are often looking for samples from horses for specific studies to further our understanding of certain conditions. These samples are crucial for our scientists who study the genetic factors behind horse health, disease, coat colors, performance, and more. Our biobank isn’t just for DNA samples, it also collects other information, like vet records and details about how horses are cared for. Our research team analyzes this data to find links between equine genetics and physical attributes, and how they affect a horse’s health.

However, our opportunities to research and more deeply understand our equine companions are limited by three important factors: money, samples, and time.

Financial Investment Research requires resources such as radiographs, veterinary documentation, specialized equipment, materials, and skilled personnel - all of which cost money on your end and ours!

Samples Your DNA samples give us the opportunity to increase our reference population, allowing for more studies and more accurate information for all horses.

Time Data analysis and interpretation are necessary steps in publishing valid scientific findings. Solid scientific research follows the six official steps of the Scientific Method. Once those steps are completed (which takes time!), studies undergo peer review by the scientific community to ensure the findings are valid. The peer review process can be quick or take years for more complex studies.

Ongoing Research Projects

We are actively collecting DNA samples to research several possible genetic-based health conditions and traits, as well as ancestry, but we can’t do it without the help of the horse community.

Horses accepted into our studies will be asked to submit the following information:

1. Create an Etalon account and place an order (select “Study” before checkout). This will populate a sample submission form for you to complete.
2. A pulled hair sample.
3. A veterinarian’s diagnosis.
4. Supporting imagery or diagnostic materials available (i.e., video of movement, radiographs, ultrasounds, photos, etc.).

Color Studies

Unknown Whites Study

If your horse has been DNA tested for color yet displays white markings not associated with known genes, they would be a great candidate for our research.

Additional Requirements:

• Clear front, left side, right side, and behind conformation photographs
• A purchased Ultimate Whites or ProPanel package
• Any other supporting documentation or images

Rabicano Study

The genetic cause of rabicano coloring, which can present as a small number of white hairs at the tail base and range to a roan-like appearance, is currently unknown. If your horse is a rabicano, we would love to include them in our research and solve this genetic mystery.

Additional Requirements:

• Clear front, left side, right side, and behind conformation photographs
• A purchased MiniPanel, ProPanel, Ultimate Whites, or an association diagnostic panel is required for participation so we may rule out other variants which may cause similar markings

Health Studies

C6/ECVM Bone Study

Equine Complex Vertebral Malformation (ECVM) refers to a group of malformations that affect the normal development of C6 and sometimes C7, as well as the first and second sternal ribs. We hope to discover the genetic component of ECVM through this study as these malformations are believed to be inherited.

Additional Requirements:

• ECVM or C6 vertebrae malformation as diagnosed by a veterinarian
• OR if you have a horse with neck x-rays showing that they are clear of ECVM as a negative control
• X-rays specific to this condition and region are required for participation

DSLD Study

Degenerative Suspensory Ligament Desmitis (DSLD) is a debilitating connective tissue disorder that is believed to have a genetic component associated with its development. If you have a horse with DSLD, they would be a great candidate for our future research.

Additional Requirements: Veterinarian diagnosis and diagnostic results and/or clear presentation of DSLD are required for participation

Kissing Spines Phase III Study

This study aims to deepen our genetic understanding of Kissing Spines in horses.

Additional Requirements:

• Kissing Spines as diagnosed by a veterinarian with a veterinary report complete with radiographs
• OR if you have a Thoroughbred horse confirmed negative for Kissing Spines as a negative control (many more are needed for aged Thoroughbreds)
• X-rays are required for participation

Additional Studies

If you have a horse you suspect has a health complication due to white marking variants, including horses that were born and have been determined to have traits making them incompatible with life, they would be a great candidate for our research.

Additional Requirements:

• A pulled hair sample or tissue sample (contact Etalon prior to sending tissue samples)
• A completed sample submission form (select “Study” before checkout)
• A veterinarian diagnosis
• Any supporting imagery or diagnostic materials available (ie video of movement, radiographs, ultrasounds, photos, etc)

If you have a horse with a veterinarian-diagnosed health condition that may have a genetic component, your horse could be helpful in our research efforts.

Requirements:

• A pulled hair sample
• Clear front, left side, right side, and behind conformation photographs
• A purchased MiniPanel, ProPanel, Ultimate Whites, or an association diagnostic panel are required for participation so we may rule out other variants that may cause similar markings.
• Veterinary-supported documentation for any associated health issues

Etalon is committed to uncovering mysteries of the equine genome and we greatly appreciate your help. The more people know about our research efforts, the faster we can be on our way to improving the health and wellness of horses. Please share this information with anyone who may benefit from it and email us at [email protected] or call/text at 650.380.2995 for questions or comments.

Past Discoveries & Publications

At Etalon, we don’t just talk the talk, we walk the walk. Our research team has and continues to unravel the mysteries of equine genetics and how it relates to color, health, performance, and ancestry using the DNA in our biobank. Take a look at our current list of published findings!

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. https://doi.org/10.1016/j.jevs.2021.103756

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. https://doi.org/10.1111/age.13020

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. https://doi.org/10.1016/j.rvsc.2022.06.015

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. Advance online publication. https://doi.org/10.1111/age.13110

Disciplinas esportivas em cavalos de raças de trabalho são associadas ao alelo A no locus DMRT3.

Gaspar, M.C., Araújo, F., Staiger, E.A., Martin, K., Vierra, M., Foster, G., Lundquist. E., Brooks, S.A., Patterson Rosa, L. & Lafayette, C. (2021) Brazilian Journal of Equine Medicine. In press.

Color

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 : an open access journal from MDPI, 14(3), 451. https://doi.org/10.3390/ani14030451

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. https://doi.org/10.1016/j.livsci.2024.105454

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. https://doi.org/10.3390/ani14030517

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, 128, 104875. https://doi.org/10.1016/j.jevs.2023.104875

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. https://doi.org/10.1016/j.jevs.2023.104563

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: an open access journal from MDPI, 12(15), 1958. https://doi.org/10.3390/ani12151958

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. https://doi.org/10.1093/jhered/esab033

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. https://doi.org/10.1111/age.13017

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. https://doi.org/10.1111/age.12913

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. https://doi.org/10.1111/age.12790

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. https://doi.org/10.1111/age.12762

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. https://doi.org/10.1111/age.12556

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. https://doi.org/10.1111/age.12554

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. https://doi.org/10.1111/age.12608

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. https://doi.org/10.1016/j.jevs.2022.103910