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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

Horse Human Genetics