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Article

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

by
Simone Reiter
1,
Barbara Wallner
1,
Gottfried Brem
1,
Elisabeth Haring
2,3,
Ludwig Hoelzle
4,
Monika Stefaniuk-Szmukier
5,
Bogusława Długosz
5,
Katarzyna Piórkowska
6,
Katarzyna Ropka-Molik
6,
Julia Malvick
7,
Maria Cecilia T. Penedo
7 and
Rebecca R. Bellone
7,8,*
1
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, 1210 Vienna, Austria
2
Central Research Laboratories, Museum of Natural History, 1010 Vienna, Austria
3
Department of Evolutionary Biology, University of Vienna, 1090 Vienna, Austria
4
Institute of Animal Science, University of Hohenheim, 70599 Stuttgart, Germany
5
Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture in Kraków, al. Mickiewicza 24/28, 30-059 Kraków, Poland
6
Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland
7
Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
8
Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
*
Author to whom correspondence should be addressed.
Genes 2020, 11(12), 1518; https://doi.org/10.3390/genes11121518
Submission received: 9 November 2020 / Revised: 16 December 2020 / Accepted: 16 December 2020 / Published: 18 December 2020
(This article belongs to the Special Issue Marker-Assisted Selection in the Equine)
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Abstract

Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate the breed distribution of the WFFS allele, 4081 horses belonging to 38 different breeds were screened. In total, 4.9% of the horses representing 21 breeds carried the WFFS allele. The affected breeds were mainly warmbloods, with carrier frequency as high as 17% in the Hanoverian and Danish Warmblood. The WFFS allele was not detected in most non-warmblood breeds. Exceptions include WFFS carriers in the Thoroughbred (17/716), Haflinger (2/48), American Sport Pony (1/12), and Knabstrupper (3/46). The origin of the WFFS allele remains unknown. The Arabian breed and specifically the stallion Bairactar Or. Ar. (1813), whose offspring were reported to have a similar phenotype in the 19th century, were hypothesized as the origin. DNA from a museum sample of Bairactar Or. Ar. showed that he did not carry the mutated allele. This result, together with the genotypes of 302 Arabians, all homozygous for the reference allele, does not support an Arabian origin of the WFFS allele. Our extensive survey shows the WFFS allele to be of moderate frequency and concern in warmbloods and also in breeds where it may not be expected.
Keywords: PLOD 1; warmblood fragile foal syndrome; Arabians; museum sample PLOD 1; warmblood fragile foal syndrome; Arabians; museum sample

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MDPI and ACS Style

Reiter, S.; Wallner, B.; Brem, G.; Haring, E.; Hoelzle, L.; Stefaniuk-Szmukier, M.; Długosz, B.; Piórkowska, K.; Ropka-Molik, K.; Malvick, J.; et al. Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States. Genes 2020, 11, 1518. https://doi.org/10.3390/genes11121518

AMA Style

Reiter S, Wallner B, Brem G, Haring E, Hoelzle L, Stefaniuk-Szmukier M, Długosz B, Piórkowska K, Ropka-Molik K, Malvick J, et al. Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States. Genes. 2020; 11(12):1518. https://doi.org/10.3390/genes11121518

Chicago/Turabian Style

Reiter, Simone, Barbara Wallner, Gottfried Brem, Elisabeth Haring, Ludwig Hoelzle, Monika Stefaniuk-Szmukier, Bogusława Długosz, Katarzyna Piórkowska, Katarzyna Ropka-Molik, Julia Malvick, and et al. 2020. "Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States" Genes 11, no. 12: 1518. https://doi.org/10.3390/genes11121518

APA Style

Reiter, S., Wallner, B., Brem, G., Haring, E., Hoelzle, L., Stefaniuk-Szmukier, M., Długosz, B., Piórkowska, K., Ropka-Molik, K., Malvick, J., Penedo, M. C. T., & Bellone, R. R. (2020). Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States. Genes, 11(12), 1518. https://doi.org/10.3390/genes11121518

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