Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States
| Autor: | Julia Malvick, Ludwig E. Hoelzle, Katarzyna Piórkowska, Elisabeth Haring, Bogusława Długosz, Katarzyna Ropka-Molik, Maria Cecilia T. Penedo, Rebecca R. Bellone, Gottfried Brem, Monika Stefaniuk-Szmukier, Barbara Wallner, Simone Reiter |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
lcsh:QH426-470
040301 veterinary sciences PLOD 1 Mutation Missense Datasets as Topic Breeding Article 0403 veterinary science Species Specificity warmblood fragile foal syndrome biology.animal Genotype Genetics Animals Point Mutation Arabians Horses Allele Alleles Genetics (clinical) biology Procollagen-Lysine 2-Oxoglutarate 5-Dioxygenase Pony 0402 animal and dairy science Skin Diseases Genetic Horse 04 agricultural and veterinary sciences museum sample 040201 dairy & animal science United States Breed Europe lcsh:Genetics Warmblood Foal Mutation (genetic algorithm) Horse Diseases |
| Zdroj: | Genes Genes, Vol 11, Iss 1518, p 1518 (2020) |
| DOI: | 10.3390/genes11121518 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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