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PSSM/MIM: The Dream Stealer
When you’ve exhausted all your resources and drained your back account, trying to find what is wrong with your horse, then what do you do? You dig a little deeper, research longer and keep asking questions. You get told you are crazy, your horse has got the better of you, and mostly you are making stuff up. You consider euthanasia but the good days come and you are left feeling hopeful and yet still frustrated. Here is the story of my beloved Tuned up Whiz it, aka Whizzy. Her current diagnosis is PSSM type 2 via biopsy and n/P2, n/Px n/MYHM via EquiSeq DNA testing. I met Whizzy the fall of 2009, she was 4 years old. Her price was way out of my range due to her breeding and intense training to be a reining horse. Whizzy just could not spin in one direction fast enough to meet the needs of the owner. She needed to move her fast as she had already bought another 2 year old. I took her on trial and I had x-rays that revealed some changes in her right front hoof, my farrier thought it no big deal. I made a super low offer…
26 Aug 2025
Blog
K1 Allele of COL6A3
Introduction This blog post explores the K1 allele of the equine COL6A3 gene, which encodes Collagen type VI alpha 3 chain. Portions of this blog post serve as additional sources of information to supplement the COL6A3 Gene Page. The K1 allele of COL6A3 carries a missense mutation, shown below. The protein model XP_014595871.3 was used to assign amino acid positions. Figure 1. Alignment of partial COL6A3 protein sequences from horse, compared to the K1 variant. The position of the amino acid affected by the substitution is highlighted in red. We present data to support the hypothesis that the K1 allele of COL6A3 is damaging. The K1 variant (G1976A) substitutes an alanine for a glycine. The affected amino acid is in the triple-helical portion of COL6A3. The general sequence of this region in all collagens is GLY-X-Y, where every third amino acid is a glycine. The X and Y amino acids are generally poorly conserved. In the formation of the collagen triple-helical region, the glycine residues are points of contact between helices. Glycine has the smallest R group of any amino acid (a hydrogen atom). Other amino acids in these positions interfere with triple helix formation to some extent. For further discussion,…
21 Aug 2025
Blog
P3 allele of FLNC
Introduction This blog post explores the P3 allele of the equine FLNC gene, which encodes filamin-C. Portions of this blog post serve as additional sources of information to supplement the FLNC Gene Page. The P3 allele of FLNC carries two missense mutations, shown below. The protein model XP_023495410.1 was used to assign amino acid positions. Figure 1. Alignment of partial FLNC protein sequences from horse, compared to the P3a and P3b variants. The positions of the amino acids affected by the two substitutions are highlighted in red. We present data to support the hypothesis that the P3 allele of FLNC is damaging. For the P3a variant (E794K), the substitution of lysine (positively charged) for glutamic acid (negatively charged) is a somewhat conservative substitution. For the P3b variant (A1248T), the substitution of threonine (polar uncharged) for alanine (hydrophobic) is a nonconservative substitution. Evolutionary conservation provides convincing evidence that the P3 allele of FLNC is damaging. We use public data to show that the reference allele of P3a (E794) is highly conserved across 389 species of mammals, birds, reptiles, amphibians, and fish representing 29 unique sequences of the 41-amino acid query sequence centered on the position of the E794K allele, covering about 400…
30 Jun 2025
News
Experienced Equestrian Joins EquiSeq Board
Albuquerque, New Mexico, USA June 20, 2025 EquiSeq, a leader in developing genetic tests for horses, is pleased to announce the appointment of Madison R. Sanders to its Board of Directors, effective immediately. Ms. Sanders is an experienced equestrian with a proven track record in sales and marketing. She is a lifelong hunter/jumper equestrian and a driven entrepreneur. She left the corporate world, where she worked in sales and marketing, to found Elite Equine Marketplace, a digital platform tailored to the hunter/jumper community. “We are thrilled to welcome Ms. Sanders to our Board,” said CEO and Chief Scientific Officer Paul Szauter. “Madi combines decades of experience as an equestrian with a record of success in sales and marketing. In her new role, Ms. Sanders will increase the adoption of EquiSeq’s DNA test among horse owners, breeders, and veterinarians.” “I am honored to join EquiSeq at this time of opportunity,” said Ms. Sanders. “I look forward to working with the Board to achieve its goal of improving horse health through genetic testing and breeding programs grounded in science.” EquiSeq is a leading provider of genetic tests for horses. Since its founding in 2015, the company has been committed to identifying genetic…
20 Jun 2025
News
Science Team Meets to Discuss Projects
Four members of EquiSeq’s Scientific Advisory Board. Left to right: David Nannemann, Paul Szauter, Jesse Young, and Jeremy Edwards. Four members of EquiSeq’s Scientific Advisory Board met on June 2 to get acquainted and to discuss ongoing research projects. Science team members Jeremy Edwards (University of New Mexico), Jesse Young (TriCore Reference Laboratories), David Nannemann (Rosetta Design Group), and Paul Szauter (EquiSeq) attended. Jeremy Edwards will lead the effort to screen whole genome sequence data for potentially damaging variants using an extensive gene list developed by Paul Szauter. David Nannemann will assess the effects of current and future variants on protein structure. Jesse Young will explore the possibility of adding ancestry testing to EquiSeq’s offerings. The meeting marked the first time that some members of the Scientific Advisory Board had met each other. They agreed to continue to meet in person from time to time to supplement email and Zoom meetings. Learn more about EquiSeq’s team on our Team Page.
3 Jun 2025
Blog
P4 Allele of MYOZ3
Introduction This blog post explores the P4 allele (S42L) of the equine MYOZ3 gene, which encodes myozenin 3. Portions of this blog post serve as additional sources of information to supplement the MYOZ3 Gene Page. We present data to support the hypothesis that the P4 allele of MYOZ3 (S42L) is damaging. The substitution of leucine (hydrophobic) for serine (polar uncharged) in the P4 allele of MYOZ3 is a nonconservative substitution of a chemically dissimilar amino acid. Evolutionary conservation provides convincing evidence that the P4 allele of MYOZ3 is damaging. We use public data to show that the reference allele is completely conserved across 448 species of mammals and birds representing 155 unique sequences of the 41-amino acid query sequence centered on the S42L allele, covering over 310 million years of evolutionary history. P4 allele of equine MYOZ3 Evolutionary conservation provides evidence on whether the P4 allele of MYOZ3 is damaging. In this approach, predicted MYOZ3 protein sequences are compared among a number of different species. This method, applied to mammals and birds, is shown below. A 41 amino acid segment of the protein sequence of equine MYOZ3 (XP_005599348.1), centered on the position of the variant, is shown below. This sequence is compared to…
1 Apr 2025
Blog
P2 Allele of MYOT
Introduction This blog post explores the P2 allele (S232P) of the equine MYOT gene, which encodes myotilin. Portions of this blog post serve as additional sources of information to supplement the MYOT Gene Page. We present data to support the hypothesis that the P2 allele of MYOT (S232P) is damaging. The substitution of proline (heterocyclic) for serine (polar uncharged) in the P2 variant of MYOT is a nonconservative substitution of a chemically dissimilar amino acid. Evolutionary conservation provides convincing evidence that the P2 allele of MYOT is damaging. We use public data to show that the reference allele is widely conserved across most of 244 species of mammals and birds covering over 310 million years of evolutionary history. There is a prominent exception in humans, where the MYOT gene has a conservative amino acid substitution that has gone to fixation (S232T). The substitution of threonine (polar uncharged) for serine (polar uncharged) in human MYOT is a conservative substitution of a chemically similar amino acid. This variant has gone to fixation in all the great apes most closely related to humans (chimp, bonobo, gorilla, and orangutan), but is absent from Old World monkeys, placing the origin in the common ancestor to…
8 Mar 2025
News
Twenty European countries issue patent on EquiSeq DNA tests
ALBUQUERQUE, NEW MEXICO EquiSeq announced today that a group of twenty countries in Europe have issued a patent on EquiSeq’s DNA test for three genetic variants that predispose to muscle disease. The tests are part of EquiSeq’s current DNA panel. Test results allow horse owners to better manage affected horses, and can be used to improve a breeding program to reduce the incidence of muscle disease. The following European countries have issued the patent: Austria, Belgium, Bulgaria, Germany, Denmark, Estonia, Finland, France, Italy, Ireland, Lithuania, Luxemburg, Latvia, Malta, The Netherlands, Portugal, Romania, Sweden, Slovenia and United Kingdom. The patent for EquiSeq’s DNA test has now been issued in 23 countries. The same patent remains pending before patent examiners in Australia and the United States. A second patent is pending in all the same countries. Generatio GmbH performs EquiSeq’s DNA tests for the European Union and United Kingdom, while EquiSeq performs genetic testing for horse owners in the United States and the rest of the world outside of the EU and UK.
14 Jan 2025
News
Jeremy Edwards speaks on intellectual property
Jeremy Edwards, Chair of Department of Chemistry and Chemical Biology at the University of New Mexico, is one of UNM’s most prolific inventors. Dr. Edwards is part of the EquiSeq science team and is an inventor on two of EquiSeq’s patents. In this interview, Dr. Edwards talks about the importance of protecting intellectual property.
3 Dec 2024
News
South Africa issues patent on EquiSeq DNA tests
ALBUQUERQUE, NEW MEXICO EquiSeq announced today that South Africa has issued a patent on EquiSeq’s DNA tests for three genetic variants in horses that predispose to muscle disease. The tests are part of EquiSeq’s current DNA panel. Test results allow horse owners to better manage affected horses, and can be used to improve a breeding program to reduce the incidence of muscle disease. This is the third patent issued to EquiSeq. The same patent remains pending before patent examiners in Australia, the European Union, and the United States. A second patent is pending in the same countries. Generatio GmbH performs EquiSeq’s DNA tests for the European Union and United Kingdom, while EquiSeq performs genetic testing for horse owners in the United States and the rest of the world outside of the EU and UK.
29 Nov 2024
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